Incidental Mutation 'R5254:Nfia'
ID |
399319 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfia
|
Ensembl Gene |
ENSMUSG00000028565 |
Gene Name |
nuclear factor I/A |
Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
MMRRC Submission |
042825-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5254 (G1)
|
Quality Score |
205 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97902534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 262
(M262K)
|
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: M240K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099856 Gene: ENSMUSG00000028565 AA Change: M240K
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: M262K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000074899 Gene: ENSMUSG00000028565 AA Change: M262K
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: M262K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000130032 Gene: ENSMUSG00000028565 AA Change: M262K
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
|
SMART Domains |
Protein: ENSMUSP00000102672 Gene: ENSMUSG00000028565
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: M262K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102677 Gene: ENSMUSG00000028565 AA Change: M262K
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 |
noncoding transcript
Transcript: ENSMUST00000133011
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148930
AA Change: M92K
|
SMART Domains |
Protein: ENSMUSP00000122641 Gene: ENSMUSG00000028565 AA Change: M92K
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
98% (82/84) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
G |
T |
8: 71,911,042 (GRCm39) |
C296* |
probably null |
Het |
Adam11 |
T |
A |
11: 102,665,098 (GRCm39) |
Y413* |
probably null |
Het |
Ankhd1 |
A |
G |
18: 36,789,768 (GRCm39) |
I907V |
probably benign |
Het |
Arrdc5 |
A |
G |
17: 56,604,897 (GRCm39) |
I130T |
probably benign |
Het |
Asic5 |
T |
A |
3: 81,928,294 (GRCm39) |
I419K |
probably damaging |
Het |
Atp4a |
A |
T |
7: 30,414,955 (GRCm39) |
E248V |
probably damaging |
Het |
Avil |
C |
A |
10: 126,847,630 (GRCm39) |
V154L |
probably benign |
Het |
Bclaf1 |
T |
A |
10: 20,199,282 (GRCm39) |
H226Q |
possibly damaging |
Het |
Cald1 |
A |
G |
6: 34,723,351 (GRCm39) |
|
probably benign |
Het |
Cd200r4 |
A |
C |
16: 44,652,453 (GRCm39) |
D27A |
possibly damaging |
Het |
Cdsn |
T |
A |
17: 35,863,099 (GRCm39) |
M1K |
probably null |
Het |
Cfap46 |
T |
A |
7: 139,258,430 (GRCm39) |
H281L |
possibly damaging |
Het |
Chaf1a |
T |
C |
17: 56,369,606 (GRCm39) |
F533L |
probably benign |
Het |
Chil4 |
T |
A |
3: 106,126,768 (GRCm39) |
I5F |
probably benign |
Het |
Ctu2 |
A |
T |
8: 123,203,327 (GRCm39) |
R48W |
probably damaging |
Het |
Daam1 |
A |
T |
12: 71,993,350 (GRCm39) |
H373L |
unknown |
Het |
Dcaf10 |
T |
A |
4: 45,370,415 (GRCm39) |
Y328N |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,217,012 (GRCm39) |
K1151* |
probably null |
Het |
Ect2 |
T |
C |
3: 27,184,219 (GRCm39) |
D503G |
probably damaging |
Het |
Epm2a |
C |
A |
10: 11,333,089 (GRCm39) |
D307E |
probably benign |
Het |
Exph5 |
A |
T |
9: 53,249,230 (GRCm39) |
D73V |
probably damaging |
Het |
Fam20b |
C |
T |
1: 156,533,310 (GRCm39) |
G102D |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,172,001 (GRCm39) |
N2904S |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,312,500 (GRCm39) |
Q147L |
possibly damaging |
Het |
Fndc11 |
A |
G |
2: 180,863,956 (GRCm39) |
T254A |
possibly damaging |
Het |
Galnt15 |
C |
T |
14: 31,780,244 (GRCm39) |
R514* |
probably null |
Het |
Gbgt1 |
A |
G |
2: 28,395,220 (GRCm39) |
D286G |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,415,032 (GRCm39) |
|
probably null |
Het |
Gm26526 |
A |
T |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
H2-K2 |
T |
C |
17: 34,216,436 (GRCm39) |
T237A |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,857,067 (GRCm39) |
S1010T |
probably damaging |
Het |
Il21 |
T |
C |
3: 37,281,884 (GRCm39) |
T87A |
possibly damaging |
Het |
Kmt2b |
G |
A |
7: 30,268,600 (GRCm39) |
R2010C |
probably damaging |
Het |
Kmt2c |
G |
A |
5: 25,519,592 (GRCm39) |
P2173S |
probably benign |
Het |
Krt1 |
A |
T |
15: 101,754,803 (GRCm39) |
S512T |
unknown |
Het |
Krtap16-1 |
G |
A |
11: 99,876,424 (GRCm39) |
R327* |
probably null |
Het |
Lama1 |
T |
A |
17: 68,063,711 (GRCm39) |
I745N |
probably benign |
Het |
Lrrk1 |
T |
A |
7: 65,956,855 (GRCm39) |
N372I |
probably benign |
Het |
Lyst |
A |
T |
13: 13,857,655 (GRCm39) |
E2481D |
probably benign |
Het |
Map2k1 |
A |
T |
9: 64,095,027 (GRCm39) |
|
probably benign |
Het |
Mbip |
A |
G |
12: 56,384,228 (GRCm39) |
V215A |
probably damaging |
Het |
Mdc1 |
T |
A |
17: 36,158,814 (GRCm39) |
V398D |
probably benign |
Het |
Mog |
T |
G |
17: 37,323,264 (GRCm39) |
I225L |
probably benign |
Het |
Mrgprx3-ps |
T |
A |
7: 46,959,184 (GRCm39) |
|
noncoding transcript |
Het |
Muc5b |
C |
T |
7: 141,418,277 (GRCm39) |
S3741L |
probably benign |
Het |
Myo5a |
A |
T |
9: 75,037,402 (GRCm39) |
I202F |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,833,677 (GRCm39) |
I818F |
possibly damaging |
Het |
Nisch |
C |
T |
14: 30,928,524 (GRCm39) |
|
probably null |
Het |
Nkd1 |
A |
G |
8: 89,315,822 (GRCm39) |
D64G |
probably damaging |
Het |
Nt5c2 |
T |
A |
19: 46,881,999 (GRCm39) |
K284* |
probably null |
Het |
Or14a259 |
A |
T |
7: 86,013,398 (GRCm39) |
V49E |
possibly damaging |
Het |
Or4k15b |
C |
A |
14: 50,272,135 (GRCm39) |
A242S |
possibly damaging |
Het |
Or4l1 |
A |
T |
14: 50,166,236 (GRCm39) |
I255N |
probably damaging |
Het |
Or52z14 |
T |
G |
7: 103,252,996 (GRCm39) |
I45R |
probably benign |
Het |
Or5an1c |
A |
G |
19: 12,218,612 (GRCm39) |
S138P |
probably damaging |
Het |
Or5j3 |
A |
T |
2: 86,128,265 (GRCm39) |
Y35F |
probably damaging |
Het |
Or8g55 |
A |
T |
9: 39,784,741 (GRCm39) |
T57S |
possibly damaging |
Het |
Or8k24 |
A |
T |
2: 86,216,484 (GRCm39) |
S93T |
possibly damaging |
Het |
Pcdhb17 |
A |
T |
18: 37,619,878 (GRCm39) |
D556V |
probably damaging |
Het |
Pcdhga8 |
A |
T |
18: 37,859,673 (GRCm39) |
D243V |
probably benign |
Het |
Polq |
A |
T |
16: 36,909,681 (GRCm39) |
Q2355L |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc5a4a |
C |
A |
10: 76,018,572 (GRCm39) |
Y506* |
probably null |
Het |
Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
G |
A |
8: 127,193,895 (GRCm39) |
H336Y |
probably damaging |
Het |
Tas2r134 |
T |
G |
2: 51,517,559 (GRCm39) |
F13V |
probably benign |
Het |
Tgfb2 |
A |
G |
1: 186,436,680 (GRCm39) |
Y98H |
probably damaging |
Het |
Tmprss11a |
C |
A |
5: 86,559,665 (GRCm39) |
V376L |
probably damaging |
Het |
Tmprss11f |
T |
A |
5: 86,685,892 (GRCm39) |
K158N |
probably benign |
Het |
Tnip2 |
G |
T |
5: 34,660,922 (GRCm39) |
Q177K |
probably damaging |
Het |
Trp53inp1 |
T |
A |
4: 11,165,075 (GRCm39) |
|
probably null |
Het |
Ttc28 |
C |
T |
5: 111,419,104 (GRCm39) |
P1398S |
probably benign |
Het |
Umodl1 |
T |
G |
17: 31,199,333 (GRCm39) |
I308S |
possibly damaging |
Het |
Vcan |
A |
T |
13: 89,839,719 (GRCm39) |
S1942T |
probably damaging |
Het |
Vmn2r124 |
T |
A |
17: 18,283,339 (GRCm39) |
N344K |
probably benign |
Het |
Vmn2r25 |
C |
G |
6: 123,802,277 (GRCm39) |
C542S |
probably damaging |
Het |
Wiz |
T |
A |
17: 32,597,470 (GRCm39) |
|
probably benign |
Het |
Wrap73 |
A |
G |
4: 154,239,803 (GRCm39) |
Y343C |
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 |
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'- ACTGCACTAACATTGGTTCTTG -3'
(R):5'- GCACCTTACCATTTTGGACAAAG -3'
Sequencing Primer
(F):5'- GCACTAACATTGGTTCTTGATCAC -3'
(R):5'- TGTCTGGTTCCCTAATAAGAAAGC -3'
|
Posted On |
2016-07-06 |