Incidental Mutation 'R7669:Nfia'
| ID |
592034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfia
|
| Ensembl Gene |
ENSMUSG00000028565 |
| Gene Name |
nuclear factor I/A |
| Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
| MMRRC Submission |
045741-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97671742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 151
(V151I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052018]
[ENSMUST00000075448]
[ENSMUST00000092532]
[ENSMUST00000107057]
[ENSMUST00000107062]
[ENSMUST00000152023]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052018
AA Change: V151I
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: V151I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
1.6e-31 |
PFAM |
|
DWA
|
67 |
175 |
2.4e-21 |
SMART |
|
Pfam:CTF_NFI
|
192 |
487 |
7.3e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075448
AA Change: V151I
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: V151I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
6 |
46 |
5.6e-30 |
PFAM |
|
DWA
|
67 |
175 |
2.4e-21 |
SMART |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
214 |
508 |
1.8e-135 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092532
AA Change: V151I
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: V151I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
1.2e-30 |
PFAM |
|
DWA
|
67 |
175 |
2.4e-21 |
SMART |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
214 |
318 |
4.1e-48 |
PFAM |
|
Pfam:CTF_NFI
|
315 |
466 |
1.5e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107057
AA Change: V151I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: V151I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
1.2e-31 |
PFAM |
|
DWA
|
67 |
175 |
2.4e-21 |
SMART |
|
Pfam:CTF_NFI
|
180 |
380 |
7.8e-96 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107062
AA Change: V151I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: V151I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
1.7e-31 |
PFAM |
|
DWA
|
67 |
175 |
2.4e-21 |
SMART |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
214 |
494 |
6.2e-128 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152023
AA Change: V143I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114880
Gene: ENSMUSG00000028565
AA Change: V143I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
1 |
38 |
2.6e-28 |
PFAM |
|
DWA
|
59 |
167 |
2.4e-21 |
SMART |
|
low complexity region
|
178 |
193 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
206 |
225 |
2.8e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0680 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display perinatal lethality, hydrocephalus, agenesis of the corpus callosum and hippocampal commissure. Fertility is surviving homozygotes is compromised. A decrease in the number of heterozygous animals is associated with a maternal effect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,831,221 (GRCm39) |
P930S |
probably benign |
Het |
| Ada |
T |
A |
2: 163,570,111 (GRCm39) |
K301* |
probably null |
Het |
| Alb |
T |
C |
5: 90,611,850 (GRCm39) |
L93P |
possibly damaging |
Het |
| Aldh1l1 |
G |
A |
6: 90,547,844 (GRCm39) |
G435S |
probably benign |
Het |
| Alox12b |
A |
T |
11: 69,060,167 (GRCm39) |
I627F |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,025,946 (GRCm39) |
I503V |
probably benign |
Het |
| Arhgap29 |
C |
T |
3: 121,786,461 (GRCm39) |
A342V |
probably damaging |
Het |
| BC024139 |
G |
A |
15: 76,004,768 (GRCm39) |
P636L |
possibly damaging |
Het |
| Bmp6 |
G |
T |
13: 38,668,896 (GRCm39) |
R293L |
probably damaging |
Het |
| Cfd |
G |
A |
10: 79,727,447 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,967,273 (GRCm39) |
A3197T |
probably damaging |
Het |
| Flii |
G |
A |
11: 60,613,490 (GRCm39) |
L166F |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,195,822 (GRCm39) |
N507K |
unknown |
Het |
| Foxe1 |
C |
A |
4: 46,344,545 (GRCm39) |
R118S |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,840,483 (GRCm39) |
V1646A |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,711 (GRCm39) |
T262A |
possibly damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,575,658 (GRCm39) |
S282T |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,462,029 (GRCm39) |
N641K |
probably damaging |
Het |
| Grin2a |
T |
G |
16: 9,810,327 (GRCm39) |
N24T |
probably benign |
Het |
| Gstm2 |
T |
G |
3: 107,892,992 (GRCm39) |
D40A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,426,143 (GRCm39) |
I657N |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,282,656 (GRCm39) |
E1102G |
possibly damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,276,146 (GRCm39) |
Y39C |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,635,944 (GRCm39) |
N366K |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,510 (GRCm39) |
V35E |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,224 (GRCm39) |
F381S |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,048 (GRCm39) |
H1474R |
possibly damaging |
Het |
| Mtrf1l |
G |
T |
10: 5,765,620 (GRCm39) |
A239E |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,625,200 (GRCm39) |
A2297E |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,207,827 (GRCm39) |
E73G |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Nol6 |
A |
G |
4: 41,118,717 (GRCm39) |
L720P |
probably damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,128 (GRCm39) |
F254S |
probably damaging |
Het |
| Or7e165 |
A |
G |
9: 19,694,839 (GRCm39) |
N137D |
possibly damaging |
Het |
| Patj |
A |
G |
4: 98,407,179 (GRCm39) |
E1054G |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,037,325 (GRCm39) |
D1861G |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,241,045 (GRCm39) |
T80A |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,876,234 (GRCm39) |
S569G |
possibly damaging |
Het |
| Sgsm1 |
C |
A |
5: 113,400,890 (GRCm39) |
R1000L |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,935,516 (GRCm39) |
D199G |
possibly damaging |
Het |
| Suox |
T |
C |
10: 128,506,780 (GRCm39) |
D416G |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,011,531 (GRCm39) |
T38M |
probably damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,912,975 (GRCm39) |
C421* |
probably null |
Het |
| Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,282 (GRCm39) |
G143* |
probably null |
Het |
| Trappc12 |
T |
C |
12: 28,761,957 (GRCm39) |
I544V |
probably benign |
Het |
| Trmt1 |
G |
A |
8: 85,424,180 (GRCm39) |
V434I |
probably benign |
Het |
| Ttc5 |
T |
C |
14: 51,014,787 (GRCm39) |
H160R |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,521 (GRCm39) |
H1587Q |
probably benign |
Het |
| Zfp523 |
C |
T |
17: 28,420,015 (GRCm39) |
T220M |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,819,362 (GRCm39) |
S1234T |
probably damaging |
Het |
|
| Other mutations in Nfia |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Nfia
|
APN |
4 |
97,953,623 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02663:Nfia
|
APN |
4 |
97,929,856 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02691:Nfia
|
APN |
4 |
97,970,045 (GRCm39) |
nonsense |
probably null |
|
|
IGL02705:Nfia
|
APN |
4 |
97,671,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03226:Nfia
|
APN |
4 |
97,951,286 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0400:Nfia
|
UTSW |
4 |
97,951,373 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0611:Nfia
|
UTSW |
4 |
97,671,694 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1568:Nfia
|
UTSW |
4 |
97,999,461 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1716:Nfia
|
UTSW |
4 |
97,951,365 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3855:Nfia
|
UTSW |
4 |
97,951,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4038:Nfia
|
UTSW |
4 |
97,909,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4441:Nfia
|
UTSW |
4 |
97,661,150 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4849:Nfia
|
UTSW |
4 |
97,970,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Nfia
|
UTSW |
4 |
97,671,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5201:Nfia
|
UTSW |
4 |
97,999,462 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5254:Nfia
|
UTSW |
4 |
97,902,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5391:Nfia
|
UTSW |
4 |
97,671,538 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5551:Nfia
|
UTSW |
4 |
97,902,497 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5794:Nfia
|
UTSW |
4 |
97,671,838 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5905:Nfia
|
UTSW |
4 |
97,999,488 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5965:Nfia
|
UTSW |
4 |
97,999,529 (GRCm39) |
makesense |
probably null |
|
|
R6028:Nfia
|
UTSW |
4 |
97,999,488 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7246:Nfia
|
UTSW |
4 |
97,953,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Nfia
|
UTSW |
4 |
97,953,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8864:Nfia
|
UTSW |
4 |
97,951,382 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8916:Nfia
|
UTSW |
4 |
97,888,667 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9175:Nfia
|
UTSW |
4 |
97,671,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9691:Nfia
|
UTSW |
4 |
97,671,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0018:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0019:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0020:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0021:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0022:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0023:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0024:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0027:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0050:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0052:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0053:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0054:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0057:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0058:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0060:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0061:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0062:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0063:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0064:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0065:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0066:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0067:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTGGCCAAGTTACGGAAAG -3'
(R):5'- GTCACAGAGGCCATCAGAAG -3'
Sequencing Primer
(F):5'- TCTGGCCAAGTTACGGAAAGATATCC -3'
(R):5'- CAGAGGCCATCAGAAGAGACAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation