Incidental Mutation 'R0400:Nfia'
ID |
38112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfia
|
Ensembl Gene |
ENSMUSG00000028565 |
Gene Name |
nuclear factor I/A |
Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
MMRRC Submission |
038605-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0400 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97951373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 400
(V400A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052018]
[ENSMUST00000075448]
[ENSMUST00000092532]
[ENSMUST00000107057]
[ENSMUST00000107062]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052018
AA Change: V378A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099856 Gene: ENSMUSG00000028565 AA Change: V378A
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 |
possibly damaging
Transcript: ENSMUST00000075448
AA Change: V400A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000074899 Gene: ENSMUSG00000028565 AA Change: V400A
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: V357A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000130032 Gene: ENSMUSG00000028565 AA Change: V357A
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 |
unknown
Transcript: ENSMUST00000107057
AA Change: V271A
|
SMART Domains |
Protein: ENSMUSP00000102672 Gene: ENSMUSG00000028565 AA Change: V271A
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: V400A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102677 Gene: ENSMUSG00000028565 AA Change: V400A
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 |
unknown
Transcript: ENSMUST00000148930
AA Change: V230A
|
SMART Domains |
Protein: ENSMUSP00000122641 Gene: ENSMUSG00000028565 AA Change: V230A
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
Pfam:CTF_NFI
|
45 |
274 |
1.5e-102 |
PFAM |
|
Meta Mutation Damage Score |
0.5960 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
Validation Efficiency |
97% (76/78) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
T |
A |
11: 30,376,360 (GRCm39) |
H169L |
probably benign |
Het |
9130230L23Rik |
T |
C |
5: 66,147,699 (GRCm39) |
D28G |
unknown |
Het |
Abca12 |
T |
A |
1: 71,298,935 (GRCm39) |
|
probably benign |
Het |
Acsl5 |
T |
C |
19: 55,282,143 (GRCm39) |
V573A |
probably damaging |
Het |
Agap1 |
A |
G |
1: 89,770,972 (GRCm39) |
|
probably benign |
Het |
Arid2 |
A |
G |
15: 96,254,806 (GRCm39) |
|
probably benign |
Het |
B430305J03Rik |
T |
A |
3: 61,271,556 (GRCm39) |
|
probably benign |
Het |
Brsk2 |
T |
C |
7: 141,552,290 (GRCm39) |
L584P |
probably damaging |
Het |
C2cd4c |
A |
G |
10: 79,449,043 (GRCm39) |
Y35H |
probably damaging |
Het |
Cacul1 |
A |
G |
19: 60,551,591 (GRCm39) |
|
probably benign |
Het |
Cers3 |
T |
C |
7: 66,414,078 (GRCm39) |
V88A |
probably benign |
Het |
Cnnm1 |
A |
T |
19: 43,456,803 (GRCm39) |
H614L |
probably damaging |
Het |
Col1a1 |
T |
A |
11: 94,832,195 (GRCm39) |
|
probably benign |
Het |
Cyp1b1 |
T |
A |
17: 80,021,016 (GRCm39) |
D242V |
probably damaging |
Het |
Cyp4a31 |
T |
C |
4: 115,420,915 (GRCm39) |
M1T |
probably null |
Het |
Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
Dclk2 |
A |
T |
3: 86,721,054 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 117,972,904 (GRCm39) |
S2010P |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,480,934 (GRCm39) |
L246P |
probably damaging |
Het |
Dus2 |
A |
T |
8: 106,775,309 (GRCm39) |
T279S |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,423,522 (GRCm39) |
|
probably null |
Het |
Esco2 |
C |
A |
14: 66,069,155 (GRCm39) |
V52F |
possibly damaging |
Het |
Fbp1 |
T |
A |
13: 63,012,882 (GRCm39) |
T104S |
probably benign |
Het |
Foxj2 |
A |
T |
6: 122,810,767 (GRCm39) |
Q249L |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 58,037,023 (GRCm39) |
Y122C |
probably damaging |
Het |
Gimd1 |
T |
C |
3: 132,340,588 (GRCm39) |
Y35H |
probably benign |
Het |
Gipc2 |
A |
G |
3: 151,871,305 (GRCm39) |
F74L |
probably damaging |
Het |
Glt1d1 |
T |
A |
5: 127,734,139 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,290,141 (GRCm39) |
T2325A |
probably damaging |
Het |
Iffo1 |
A |
G |
6: 125,130,434 (GRCm39) |
K471R |
probably damaging |
Het |
Ireb2 |
G |
A |
9: 54,803,782 (GRCm39) |
R491H |
probably benign |
Het |
Isg20 |
A |
G |
7: 78,566,473 (GRCm39) |
N141D |
possibly damaging |
Het |
Kmt5c |
G |
A |
7: 4,749,243 (GRCm39) |
R100H |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,640,926 (GRCm39) |
D3506G |
probably benign |
Het |
Lrrn4 |
A |
C |
2: 132,719,940 (GRCm39) |
F287V |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,555,427 (GRCm39) |
K349E |
probably benign |
Het |
Mmrn1 |
A |
C |
6: 60,954,099 (GRCm39) |
K793N |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,421,830 (GRCm39) |
V8227A |
possibly damaging |
Het |
Myh2 |
C |
T |
11: 67,083,424 (GRCm39) |
|
probably benign |
Het |
Nalcn |
T |
A |
14: 123,528,372 (GRCm39) |
|
probably benign |
Het |
Nxph4 |
T |
A |
10: 127,362,127 (GRCm39) |
T255S |
possibly damaging |
Het |
Olfm5 |
G |
A |
7: 103,803,386 (GRCm39) |
T359I |
probably damaging |
Het |
Or1e33 |
T |
C |
11: 73,738,867 (GRCm39) |
Y28C |
probably benign |
Het |
Or5t18 |
A |
G |
2: 86,636,995 (GRCm39) |
M116T |
probably damaging |
Het |
Or8b44 |
A |
G |
9: 38,410,207 (GRCm39) |
M81V |
possibly damaging |
Het |
Or8g21 |
G |
T |
9: 38,906,494 (GRCm39) |
P79Q |
probably damaging |
Het |
Pak5 |
T |
C |
2: 135,939,499 (GRCm39) |
I545M |
possibly damaging |
Het |
Pcdhb15 |
T |
C |
18: 37,608,948 (GRCm39) |
F727L |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,646,818 (GRCm39) |
N202K |
possibly damaging |
Het |
Phlpp1 |
T |
A |
1: 106,320,664 (GRCm39) |
I1553N |
probably benign |
Het |
Pink1 |
T |
C |
4: 138,045,229 (GRCm39) |
T282A |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,838,240 (GRCm39) |
F1706S |
probably benign |
Het |
Pycr1 |
G |
A |
11: 120,532,352 (GRCm39) |
|
probably benign |
Het |
Rigi |
A |
G |
4: 40,235,257 (GRCm39) |
Y78H |
probably benign |
Het |
Skint9 |
A |
G |
4: 112,271,198 (GRCm39) |
S71P |
probably damaging |
Het |
Smad1 |
A |
G |
8: 80,098,399 (GRCm39) |
|
probably benign |
Het |
Snapc5 |
A |
T |
9: 64,087,789 (GRCm39) |
E33D |
probably damaging |
Het |
Snrnp40 |
T |
C |
4: 130,256,443 (GRCm39) |
L56P |
probably damaging |
Het |
Stab2 |
A |
C |
10: 86,708,474 (GRCm39) |
I1697S |
probably damaging |
Het |
Tfap2a |
G |
T |
13: 40,870,888 (GRCm39) |
|
probably benign |
Het |
Tph2 |
A |
G |
10: 114,916,025 (GRCm39) |
|
probably benign |
Het |
Triml1 |
A |
G |
8: 43,594,077 (GRCm39) |
V118A |
probably benign |
Het |
Ttbk2 |
T |
A |
2: 120,580,723 (GRCm39) |
T538S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,545,616 (GRCm39) |
V32569A |
possibly damaging |
Het |
U2af1 |
T |
A |
17: 31,867,166 (GRCm39) |
Y158F |
probably benign |
Het |
Usp7 |
A |
T |
16: 8,534,496 (GRCm39) |
|
probably benign |
Het |
Vdr |
A |
G |
15: 97,767,232 (GRCm39) |
S179P |
probably benign |
Het |
Vps13d |
A |
C |
4: 144,792,397 (GRCm39) |
S663A |
probably benign |
Het |
Wdr62 |
T |
A |
7: 29,940,887 (GRCm39) |
T844S |
possibly damaging |
Het |
Wipi1 |
C |
T |
11: 109,467,956 (GRCm39) |
R407Q |
probably damaging |
Het |
Zbtb43 |
A |
G |
2: 33,343,909 (GRCm39) |
C439R |
probably damaging |
Het |
Zfp507 |
T |
A |
7: 35,491,171 (GRCm39) |
H704L |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,786,068 (GRCm39) |
R2080K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCACTGAACATGGAGAGGCAAC -3'
(R):5'- TCAGTCAGCATGGACATTACAACCC -3'
Sequencing Primer
(F):5'- GTCTTAGCGCCTTAAAGGAAC -3'
(R):5'- GCATGGACATTACAACCCAAAGTC -3'
|
Posted On |
2013-05-23 |