Incidental Mutation 'R9175:Nfia'
| ID |
696610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfia
|
| Ensembl Gene |
ENSMUSG00000028565 |
| Gene Name |
nuclear factor I/A |
| Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
| MMRRC Submission |
068948-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97671362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 24
(R24H)
|
| 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 |
probably damaging
Transcript: ENSMUST00000052018
AA Change: R24H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: R24H
| 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: R24H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: R24H
| 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 |
probably damaging
Transcript: ENSMUST00000092532
AA Change: R24H
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: R24H
| 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 damaging
Transcript: ENSMUST00000107057
AA Change: R24H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: R24H
| 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: R24H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: R24H
| 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: R16H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114880
Gene: ENSMUSG00000028565
AA Change: R16H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
A |
7: 12,249,412 (GRCm39) |
D82N |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,531,593 (GRCm39) |
K4607E |
probably damaging |
Het |
| Agpat4 |
G |
C |
17: 12,417,669 (GRCm39) |
G70A |
probably damaging |
Het |
| Ank2 |
G |
A |
3: 126,722,402 (GRCm39) |
T1017I |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,678,421 (GRCm39) |
I339V |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,296,644 (GRCm39) |
N1221Y |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,468,042 (GRCm39) |
S101P |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,968,968 (GRCm39) |
I442F |
probably damaging |
Het |
| Cnot2 |
A |
T |
10: 116,334,051 (GRCm39) |
M373K |
possibly damaging |
Het |
| Coch |
C |
A |
12: 51,645,060 (GRCm39) |
H205N |
possibly damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,560 (GRCm39) |
V88A |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,419,601 (GRCm39) |
T35A |
probably benign |
Het |
| Gm28360 |
A |
T |
1: 117,781,328 (GRCm39) |
K106N |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,256,657 (GRCm39) |
F1467L |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,252,499 (GRCm39) |
T18A |
|
Het |
| Iqcm |
A |
G |
8: 76,710,867 (GRCm39) |
K472E |
possibly damaging |
Het |
| Kcnk5 |
A |
T |
14: 20,192,117 (GRCm39) |
V348D |
probably benign |
Het |
| Kcns3 |
C |
T |
12: 11,169,801 (GRCm39) |
|
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,366,093 (GRCm39) |
D2787G |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,471,576 (GRCm39) |
C84R |
probably damaging |
Het |
| Opa3 |
C |
T |
7: 18,989,466 (GRCm39) |
R110C |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,590 (GRCm39) |
D74G |
probably damaging |
Het |
| Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
| Pdia4 |
A |
C |
6: 47,775,417 (GRCm39) |
S464R |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 185,009,360 (GRCm39) |
D1092G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,730,764 (GRCm39) |
K2763E |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,534,518 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
A |
T |
19: 40,315,018 (GRCm39) |
L598Q |
probably damaging |
Het |
| Sppl2b |
A |
T |
10: 80,698,807 (GRCm39) |
M154L |
probably benign |
Het |
| Stk33 |
A |
G |
7: 108,920,724 (GRCm39) |
I331T |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,933,035 (GRCm39) |
E494G |
probably benign |
Het |
| Supt6 |
C |
T |
11: 78,112,052 (GRCm39) |
R1010Q |
possibly damaging |
Het |
| Tada1 |
G |
A |
1: 166,210,005 (GRCm39) |
R69H |
probably damaging |
Het |
| Tent4a |
A |
G |
13: 69,663,915 (GRCm39) |
L268P |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tomm34 |
A |
G |
2: 163,912,385 (GRCm39) |
|
probably null |
Het |
| Tpi1 |
T |
C |
6: 124,788,871 (GRCm39) |
T223A |
probably damaging |
Het |
| Trpc3 |
T |
A |
3: 36,709,279 (GRCm39) |
N399I |
probably benign |
Het |
| Vgll2 |
A |
G |
10: 51,903,635 (GRCm39) |
H166R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,577,051 (GRCm39) |
I350F |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,527,212 (GRCm39) |
K440M |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,385,793 (GRCm39) |
Y729C |
possibly damaging |
Het |
| Zfp106 |
G |
T |
2: 120,353,197 (GRCm39) |
A1554E |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,169,997 (GRCm39) |
Y176C |
probably damaging |
Het |
| Zswim5 |
T |
A |
4: 116,822,941 (GRCm39) |
N470K |
probably benign |
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 |
|
R7669:Nfia
|
UTSW |
4 |
97,671,742 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- GTGCCGATAGTAGATTCCCC -3'
(R):5'- TCCGTAACTTGGCCAGAAGTC -3'
Sequencing Primer
(F):5'- GATAGTAGATTCCCCTTCCCCTGG -3'
(R):5'- CAGAAGTCGGGAAGCCCAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation