Incidental Mutation 'R6018:Nfat5'
| ID |
478716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfat5
|
| Ensembl Gene |
ENSMUSG00000003847 |
| Gene Name |
nuclear factor of activated T cells 5 |
| Synonyms |
OREBP, B130038B15Rik, nfatz, TonEBP |
| MMRRC Submission |
044192-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
R6018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
108020102-108106149 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 108082283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075922]
[ENSMUST00000075922]
[ENSMUST00000077440]
[ENSMUST00000077440]
[ENSMUST00000125721]
[ENSMUST00000125721]
[ENSMUST00000133026]
[ENSMUST00000144100]
[ENSMUST00000151114]
[ENSMUST00000154474]
[ENSMUST00000169453]
[ENSMUST00000169453]
[ENSMUST00000147588]
|
| AlphaFold |
Q9WV30 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075922
|
| SMART Domains |
Protein: ENSMUSP00000075311
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
282 |
439 |
7.8e-23 |
PFAM |
|
IPT
|
444 |
542 |
3.33e-15 |
SMART |
|
low complexity region
|
647 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
977 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000075922
|
| SMART Domains |
Protein: ENSMUSP00000075311
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
282 |
439 |
7.8e-23 |
PFAM |
|
IPT
|
444 |
542 |
3.33e-15 |
SMART |
|
low complexity region
|
647 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
977 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000077440
|
| SMART Domains |
Protein: ENSMUSP00000076653
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
206 |
363 |
1.5e-22 |
PFAM |
|
IPT
|
368 |
466 |
3.33e-15 |
SMART |
|
low complexity region
|
571 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
901 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
927 |
1110 |
7.13e-8 |
PROSPERO |
|
internal_repeat_1
|
935 |
1128 |
2.59e-11 |
PROSPERO |
|
internal_repeat_2
|
1122 |
1324 |
7.13e-8 |
PROSPERO |
|
internal_repeat_1
|
1207 |
1426 |
2.59e-11 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000077440
|
| SMART Domains |
Protein: ENSMUSP00000076653
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
206 |
363 |
1.5e-22 |
PFAM |
|
IPT
|
368 |
466 |
3.33e-15 |
SMART |
|
low complexity region
|
571 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
901 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
927 |
1110 |
7.13e-8 |
PROSPERO |
|
internal_repeat_1
|
935 |
1128 |
2.59e-11 |
PROSPERO |
|
internal_repeat_2
|
1122 |
1324 |
7.13e-8 |
PROSPERO |
|
internal_repeat_1
|
1207 |
1426 |
2.59e-11 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125721
|
| SMART Domains |
Protein: ENSMUSP00000116094
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
282 |
439 |
1e-22 |
PFAM |
|
IPT
|
444 |
542 |
3.33e-15 |
SMART |
|
low complexity region
|
647 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
977 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1003 |
1186 |
2.22e-8 |
PROSPERO |
|
internal_repeat_1
|
1011 |
1204 |
5.31e-12 |
PROSPERO |
|
internal_repeat_2
|
1198 |
1400 |
2.22e-8 |
PROSPERO |
|
internal_repeat_1
|
1283 |
1502 |
5.31e-12 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125721
|
| SMART Domains |
Protein: ENSMUSP00000116094
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
282 |
439 |
1e-22 |
PFAM |
|
IPT
|
444 |
542 |
3.33e-15 |
SMART |
|
low complexity region
|
647 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
977 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1003 |
1186 |
2.22e-8 |
PROSPERO |
|
internal_repeat_1
|
1011 |
1204 |
5.31e-12 |
PROSPERO |
|
internal_repeat_2
|
1198 |
1400 |
2.22e-8 |
PROSPERO |
|
internal_repeat_1
|
1283 |
1502 |
5.31e-12 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126333
|
| SMART Domains |
Protein: ENSMUSP00000118130
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RHD_DNA_bind
|
30 |
132 |
6.8e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126397
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133026
|
| SMART Domains |
Protein: ENSMUSP00000116631
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144100
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151114
|
| SMART Domains |
Protein: ENSMUSP00000119370
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
210 |
N/A |
INTRINSIC |
|
Pfam:RHD_DNA_bind
|
300 |
457 |
1.1e-22 |
PFAM |
|
IPT
|
462 |
560 |
3.33e-15 |
SMART |
|
low complexity region
|
665 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
995 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1021 |
1204 |
2.24e-8 |
PROSPERO |
|
internal_repeat_1
|
1029 |
1222 |
5.32e-12 |
PROSPERO |
|
internal_repeat_2
|
1216 |
1418 |
2.24e-8 |
PROSPERO |
|
internal_repeat_1
|
1301 |
1520 |
5.32e-12 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154474
|
| SMART Domains |
Protein: ENSMUSP00000115036
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
70 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169453
|
| SMART Domains |
Protein: ENSMUSP00000127784
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
210 |
N/A |
INTRINSIC |
|
Pfam:RHD_DNA_bind
|
300 |
457 |
1.1e-22 |
PFAM |
|
IPT
|
462 |
560 |
3.33e-15 |
SMART |
|
low complexity region
|
665 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
995 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1021 |
1204 |
2.24e-8 |
PROSPERO |
|
internal_repeat_1
|
1029 |
1222 |
5.32e-12 |
PROSPERO |
|
internal_repeat_2
|
1216 |
1418 |
2.24e-8 |
PROSPERO |
|
internal_repeat_1
|
1301 |
1520 |
5.32e-12 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169453
|
| SMART Domains |
Protein: ENSMUSP00000127784
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
210 |
N/A |
INTRINSIC |
|
Pfam:RHD_DNA_bind
|
300 |
457 |
1.1e-22 |
PFAM |
|
IPT
|
462 |
560 |
3.33e-15 |
SMART |
|
low complexity region
|
665 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
995 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1021 |
1204 |
2.24e-8 |
PROSPERO |
|
internal_repeat_1
|
1029 |
1222 |
5.32e-12 |
PROSPERO |
|
internal_repeat_2
|
1216 |
1418 |
2.24e-8 |
PROSPERO |
|
internal_repeat_1
|
1301 |
1520 |
5.32e-12 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147588
|
| SMART Domains |
Protein: ENSMUSP00000122871
Gene: ENSMUSG00000003847
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IPT
|
1 |
42 |
3e-20 |
BLAST |
|
PDB:1IMH|D
|
1 |
44 |
2e-20 |
PDB |
|
SCOP:d1bfta_
|
1 |
44 |
3e-14 |
SMART |
|
low complexity region
|
146 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
476 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
502 |
685 |
1.17e-6 |
PROSPERO |
|
internal_repeat_1
|
510 |
703 |
1.39e-9 |
PROSPERO |
|
internal_repeat_2
|
697 |
899 |
1.17e-6 |
PROSPERO |
|
internal_repeat_1
|
782 |
1001 |
1.39e-9 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one of several knock-out allele exhibit lethality between E14.5 and E17.5 as well as around P10 with kidney, cardiac or immune defects depending on the allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,448 (GRCm39) |
Y155N |
probably damaging |
Het |
| 1700019A02Rik |
C |
T |
1: 53,202,405 (GRCm39) |
|
probably null |
Het |
| 2310022B05Rik |
A |
G |
8: 125,365,853 (GRCm39) |
F297L |
probably benign |
Het |
| Acbd3 |
T |
C |
1: 180,579,903 (GRCm39) |
S516P |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,190 (GRCm39) |
N227S |
probably damaging |
Het |
| Ak6 |
C |
T |
13: 100,802,459 (GRCm39) |
Q151* |
probably null |
Het |
| Ano4 |
A |
G |
10: 88,865,128 (GRCm39) |
L297P |
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
| Ap5s1 |
G |
A |
2: 131,054,915 (GRCm39) |
W212* |
probably null |
Het |
| Arl9 |
A |
G |
5: 77,155,253 (GRCm39) |
Q113R |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,627,430 (GRCm39) |
H519R |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,125,579 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
G |
A |
10: 98,846,622 (GRCm39) |
A808T |
probably damaging |
Het |
| Bckdhb |
C |
A |
9: 83,951,237 (GRCm39) |
T342K |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,174,732 (GRCm39) |
H1996R |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,926,235 (GRCm39) |
I1148M |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,937,414 (GRCm39) |
M766K |
probably benign |
Het |
| Ctnnd1 |
T |
A |
2: 84,480,812 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,499,436 (GRCm39) |
N41I |
probably damaging |
Het |
| D2hgdh |
G |
T |
1: 93,754,182 (GRCm39) |
V52L |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,109,490 (GRCm39) |
Y77* |
probably null |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,481 (GRCm39) |
S770P |
probably damaging |
Het |
| Fbxl16 |
A |
T |
17: 26,036,709 (GRCm39) |
D230V |
probably damaging |
Het |
| Gm4847 |
G |
A |
1: 166,471,017 (GRCm39) |
A11V |
probably damaging |
Het |
| Gm9978 |
C |
T |
10: 78,322,915 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
G |
11: 102,371,741 (GRCm39) |
L599P |
unknown |
Het |
| Hdac4 |
A |
G |
1: 91,886,120 (GRCm39) |
L254P |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,419,828 (GRCm39) |
I384V |
probably benign |
Het |
| Heatr1 |
A |
T |
13: 12,420,939 (GRCm39) |
Q410L |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,260,804 (GRCm39) |
I1065V |
probably benign |
Het |
| Igkv6-14 |
A |
G |
6: 70,412,024 (GRCm39) |
S87P |
probably damaging |
Het |
| Il2rb |
G |
T |
15: 78,366,266 (GRCm39) |
Q344K |
possibly damaging |
Het |
| Ipo4 |
A |
G |
14: 55,863,609 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
A |
G |
1: 135,318,274 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
T |
C |
4: 129,613,887 (GRCm39) |
T374A |
probably benign |
Het |
| Lamc3 |
G |
T |
2: 31,795,724 (GRCm39) |
G370W |
probably damaging |
Het |
| Lipn |
T |
A |
19: 34,054,335 (GRCm39) |
L191Q |
probably damaging |
Het |
| Lpl |
T |
C |
8: 69,353,940 (GRCm39) |
V427A |
probably benign |
Het |
| Magi3 |
T |
C |
3: 104,013,128 (GRCm39) |
S120G |
probably damaging |
Het |
| Mgl2 |
T |
C |
11: 70,027,937 (GRCm39) |
*382Q |
probably null |
Het |
| Nab2 |
G |
A |
10: 127,500,793 (GRCm39) |
Q100* |
probably null |
Het |
| Nqo1 |
T |
C |
8: 108,115,500 (GRCm39) |
H259R |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,870,944 (GRCm39) |
D190E |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,815,148 (GRCm39) |
|
probably benign |
Het |
| Osmr |
G |
A |
15: 6,845,276 (GRCm39) |
P830L |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
| Pde11a |
T |
A |
2: 75,848,194 (GRCm39) |
M878L |
probably benign |
Het |
| Pik3ap1 |
T |
C |
19: 41,373,455 (GRCm39) |
|
probably benign |
Het |
| Pla2g3 |
T |
C |
11: 3,441,916 (GRCm39) |
L360P |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,779,710 (GRCm39) |
V244A |
probably benign |
Het |
| Pramel16 |
C |
T |
4: 143,677,469 (GRCm39) |
A37T |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,345,422 (GRCm39) |
V8A |
probably benign |
Het |
| Rbbp5 |
T |
C |
1: 132,422,078 (GRCm39) |
V199A |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,423,059 (GRCm39) |
V7A |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,720,889 (GRCm39) |
T1347A |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,056,118 (GRCm39) |
H767Q |
probably benign |
Het |
| Sis |
G |
A |
3: 72,820,525 (GRCm39) |
P1413L |
possibly damaging |
Het |
| Slc22a5 |
G |
T |
11: 53,766,846 (GRCm39) |
A214E |
probably damaging |
Het |
| Snx13 |
G |
T |
12: 35,097,318 (GRCm39) |
|
probably benign |
Het |
| Sun5 |
T |
A |
2: 153,700,363 (GRCm39) |
I295F |
probably damaging |
Het |
| Themis3 |
C |
T |
17: 66,900,204 (GRCm39) |
A55T |
probably damaging |
Het |
| Tmem255b |
T |
C |
8: 13,505,138 (GRCm39) |
Y148H |
probably benign |
Het |
| Tmem74b |
A |
G |
2: 151,548,639 (GRCm39) |
E122G |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,710,756 (GRCm39) |
V862A |
probably damaging |
Het |
| Trim35 |
A |
T |
14: 66,546,199 (GRCm39) |
D322V |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,753,547 (GRCm39) |
F1319S |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,785,020 (GRCm39) |
R756S |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,268 (GRCm39) |
N645K |
possibly damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,521,875 (GRCm39) |
S155P |
possibly damaging |
Het |
| Vstm4 |
G |
A |
14: 32,585,627 (GRCm39) |
A65T |
probably benign |
Het |
|
| Other mutations in Nfat5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Nfat5
|
APN |
8 |
108,094,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01145:Nfat5
|
APN |
8 |
108,093,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01700:Nfat5
|
APN |
8 |
108,065,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01721:Nfat5
|
APN |
8 |
108,071,611 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01796:Nfat5
|
APN |
8 |
108,094,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01976:Nfat5
|
APN |
8 |
108,094,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Nfat5
|
APN |
8 |
108,088,450 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02150:Nfat5
|
APN |
8 |
108,094,584 (GRCm39) |
nonsense |
probably null |
|
|
IGL02174:Nfat5
|
APN |
8 |
108,065,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02224:Nfat5
|
APN |
8 |
108,071,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02226:Nfat5
|
APN |
8 |
108,078,154 (GRCm39) |
nonsense |
probably null |
|
|
IGL02324:Nfat5
|
APN |
8 |
108,092,808 (GRCm39) |
splice site |
probably benign |
|
|
IGL02724:Nfat5
|
APN |
8 |
108,085,367 (GRCm39) |
missense |
probably damaging |
0.97 |
|
fettfeld
|
UTSW |
8 |
108,074,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Grunefeld
|
UTSW |
8 |
108,082,140 (GRCm39) |
splice site |
probably null |
|
|
Kleinfeld
|
UTSW |
8 |
108,078,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lisa
|
UTSW |
8 |
108,074,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
viola
|
UTSW |
8 |
108,085,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Nfat5
|
UTSW |
8 |
108,066,014 (GRCm39) |
splice site |
probably benign |
|
|
R0003:Nfat5
|
UTSW |
8 |
108,065,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Nfat5
|
UTSW |
8 |
108,065,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Nfat5
|
UTSW |
8 |
108,065,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Nfat5
|
UTSW |
8 |
108,065,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0135:Nfat5
|
UTSW |
8 |
108,065,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Nfat5
|
UTSW |
8 |
108,065,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Nfat5
|
UTSW |
8 |
108,065,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Nfat5
|
UTSW |
8 |
108,085,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Nfat5
|
UTSW |
8 |
108,094,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Nfat5
|
UTSW |
8 |
108,092,927 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0691:Nfat5
|
UTSW |
8 |
108,082,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0743:Nfat5
|
UTSW |
8 |
108,094,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1329:Nfat5
|
UTSW |
8 |
108,095,659 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1550:Nfat5
|
UTSW |
8 |
108,097,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1590:Nfat5
|
UTSW |
8 |
108,020,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Nfat5
|
UTSW |
8 |
108,088,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Nfat5
|
UTSW |
8 |
108,093,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1918:Nfat5
|
UTSW |
8 |
108,092,868 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2679:Nfat5
|
UTSW |
8 |
108,071,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2850:Nfat5
|
UTSW |
8 |
108,020,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Nfat5
|
UTSW |
8 |
108,078,053 (GRCm39) |
splice site |
probably benign |
|
|
R3966:Nfat5
|
UTSW |
8 |
108,093,921 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4301:Nfat5
|
UTSW |
8 |
108,082,327 (GRCm39) |
intron |
probably benign |
|
|
R4596:Nfat5
|
UTSW |
8 |
108,078,132 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4602:Nfat5
|
UTSW |
8 |
108,093,855 (GRCm39) |
nonsense |
probably null |
|
|
R4627:Nfat5
|
UTSW |
8 |
108,095,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Nfat5
|
UTSW |
8 |
108,051,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Nfat5
|
UTSW |
8 |
108,051,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Nfat5
|
UTSW |
8 |
108,078,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5495:Nfat5
|
UTSW |
8 |
108,095,079 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5566:Nfat5
|
UTSW |
8 |
108,095,767 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5851:Nfat5
|
UTSW |
8 |
108,074,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Nfat5
|
UTSW |
8 |
108,093,765 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6364:Nfat5
|
UTSW |
8 |
108,094,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6404:Nfat5
|
UTSW |
8 |
108,097,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6466:Nfat5
|
UTSW |
8 |
108,082,140 (GRCm39) |
splice site |
probably null |
|
|
R7056:Nfat5
|
UTSW |
8 |
108,094,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Nfat5
|
UTSW |
8 |
108,095,823 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7128:Nfat5
|
UTSW |
8 |
108,085,323 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7214:Nfat5
|
UTSW |
8 |
108,020,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7276:Nfat5
|
UTSW |
8 |
108,093,731 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7560:Nfat5
|
UTSW |
8 |
108,097,221 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7844:Nfat5
|
UTSW |
8 |
108,085,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7993:Nfat5
|
UTSW |
8 |
108,082,134 (GRCm39) |
splice site |
probably null |
|
|
R8407:Nfat5
|
UTSW |
8 |
108,094,047 (GRCm39) |
nonsense |
probably null |
|
|
R8428:Nfat5
|
UTSW |
8 |
108,095,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8798:Nfat5
|
UTSW |
8 |
108,074,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:Nfat5
|
UTSW |
8 |
108,095,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9067:Nfat5
|
UTSW |
8 |
108,094,536 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9123:Nfat5
|
UTSW |
8 |
108,078,141 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9226:Nfat5
|
UTSW |
8 |
108,095,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Nfat5
|
UTSW |
8 |
108,065,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Nfat5
|
UTSW |
8 |
108,074,388 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Nfat5
|
UTSW |
8 |
108,065,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTGGTGGCTCTTCTATGTAAAAC -3'
(R):5'- GTCAGAACTGGAAGGAACCTC -3'
Sequencing Primer
(F):5'- GCTTGCATAGCTGTTCAG -3'
(R):5'- ACTGGAAGGAACCTCAAATAATTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation