Incidental Mutation 'IGL00904:Nfia'
| ID |
27209 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfia
|
| Ensembl Gene |
ENSMUSG00000028565 |
| Gene Name |
nuclear factor I/A |
| Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00904
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97953623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 325
(P325S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052018]
[ENSMUST00000075448]
[ENSMUST00000092532]
[ENSMUST00000107057]
[ENSMUST00000107062]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052018
AA Change: P432S
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: P432S
| 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 benign
Transcript: ENSMUST00000075448
AA Change: P454S
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: P454S
| 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 benign
Transcript: ENSMUST00000092532
AA Change: P411S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: P411S
| 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: P325S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: P325S
| 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 |
possibly damaging
Transcript: ENSMUST00000107062
AA Change: P454S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: P454S
| 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 benign
Transcript: ENSMUST00000148930
|
| SMART Domains |
Protein: ENSMUSP00000122641
Gene: ENSMUSG00000028565
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
45 |
274 |
1.5e-102 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,923,135 (GRCm39) |
G236C |
probably damaging |
Het |
| Abi1 |
C |
T |
2: 22,831,942 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,364,598 (GRCm39) |
G532R |
probably damaging |
Het |
| Bysl |
C |
T |
17: 47,912,796 (GRCm39) |
M331I |
probably benign |
Het |
| Ccdc121rt3 |
G |
A |
5: 112,502,994 (GRCm39) |
R237* |
probably null |
Het |
| Cndp1 |
A |
G |
18: 84,629,790 (GRCm39) |
S468P |
probably benign |
Het |
| Esd |
A |
G |
14: 74,987,128 (GRCm39) |
*266W |
probably null |
Het |
| F5 |
T |
C |
1: 164,021,578 (GRCm39) |
V1351A |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,920,829 (GRCm39) |
D454G |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,975,195 (GRCm39) |
M1415L |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,602 (GRCm39) |
Y222F |
probably benign |
Het |
| Gtf3c2 |
C |
T |
5: 31,330,202 (GRCm39) |
S299N |
probably damaging |
Het |
| Ice1 |
C |
T |
13: 70,750,408 (GRCm39) |
D93N |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,328,276 (GRCm39) |
|
probably null |
Het |
| Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,499,017 (GRCm39) |
H308Q |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,462,401 (GRCm39) |
D319G |
probably benign |
Het |
| Mrpl55 |
T |
A |
11: 59,096,499 (GRCm39) |
S84T |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,950,374 (GRCm39) |
V123A |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,406,944 (GRCm39) |
|
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,794,535 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
C |
11: 97,149,132 (GRCm39) |
V130G |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,597 (GRCm39) |
S51T |
probably damaging |
Het |
| Pja2 |
G |
T |
17: 64,590,526 (GRCm39) |
T669K |
probably damaging |
Het |
| Rnf112 |
G |
T |
11: 61,343,610 (GRCm39) |
D98E |
probably damaging |
Het |
| Rsl1d1 |
G |
A |
16: 11,017,558 (GRCm39) |
T136I |
probably damaging |
Het |
| Samsn1 |
A |
T |
16: 75,706,008 (GRCm39) |
|
probably benign |
Het |
| Slc6a9 |
T |
C |
4: 117,721,814 (GRCm39) |
L280P |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,097,398 (GRCm39) |
N1382D |
probably benign |
Het |
| Vmn2r100 |
T |
G |
17: 19,746,262 (GRCm39) |
C474G |
probably damaging |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,788 (GRCm39) |
R186H |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,929,302 (GRCm39) |
I1046T |
probably benign |
Het |
|
| Other mutations in Nfia |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation