Incidental Mutation 'R5551:Nfia'
ID |
435116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfia
|
Ensembl Gene |
ENSMUSG00000028565 |
Gene Name |
nuclear factor I/A |
Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
MMRRC Submission |
043108-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5551 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97902497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 250
(E250K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130032
(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: E228K
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099856 Gene: ENSMUSG00000028565 AA Change: E228K
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: E250K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000074899 Gene: ENSMUSG00000028565 AA Change: E250K
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: E250K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130032 Gene: ENSMUSG00000028565 AA Change: E250K
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 |
possibly damaging
Transcript: ENSMUST00000107062
AA Change: E250K
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102677 Gene: ENSMUSG00000028565 AA Change: E250K
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: E80K
|
SMART Domains |
Protein: ENSMUSP00000122641 Gene: ENSMUSG00000028565 AA Change: E80K
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB041806 |
G |
T |
4: 138,123,312 (GRCm39) |
P3T |
probably damaging |
Het |
Abl1 |
C |
T |
2: 31,691,682 (GRCm39) |
A1048V |
probably benign |
Het |
Acap2 |
A |
G |
16: 30,923,726 (GRCm39) |
V659A |
probably damaging |
Het |
Acox1 |
A |
G |
11: 116,080,317 (GRCm39) |
S29P |
possibly damaging |
Het |
Adamts1 |
A |
G |
16: 85,594,634 (GRCm39) |
I405T |
probably benign |
Het |
Afm |
A |
T |
5: 90,679,511 (GRCm39) |
E335V |
probably null |
Het |
Akap6 |
C |
T |
12: 52,842,747 (GRCm39) |
P32S |
probably damaging |
Het |
Alk |
T |
C |
17: 72,182,028 (GRCm39) |
M1332V |
possibly damaging |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Atp2c1 |
C |
A |
9: 105,336,936 (GRCm39) |
A16S |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,844,753 (GRCm39) |
E1438G |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,404,741 (GRCm39) |
Y2376H |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 48,177,492 (GRCm39) |
T349A |
probably benign |
Het |
Ctsr |
A |
T |
13: 61,307,357 (GRCm39) |
M313K |
probably damaging |
Het |
Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,031,718 (GRCm39) |
S3516P |
possibly damaging |
Het |
Ehd4 |
A |
G |
2: 119,958,100 (GRCm39) |
S162P |
possibly damaging |
Het |
Ets2 |
T |
C |
16: 95,513,165 (GRCm39) |
W114R |
probably damaging |
Het |
Fignl1 |
A |
T |
11: 11,751,603 (GRCm39) |
V484E |
probably damaging |
Het |
Golph3 |
C |
A |
15: 12,321,922 (GRCm39) |
S35R |
probably benign |
Het |
Gzf1 |
T |
C |
2: 148,526,248 (GRCm39) |
Y240H |
probably damaging |
Het |
Hook3 |
A |
G |
8: 26,558,639 (GRCm39) |
F75S |
possibly damaging |
Het |
Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
Iqch |
A |
T |
9: 63,403,535 (GRCm39) |
|
probably null |
Het |
Katnip |
T |
C |
7: 125,419,249 (GRCm39) |
F472S |
probably damaging |
Het |
Lrrk2 |
C |
T |
15: 91,696,553 (GRCm39) |
T2447I |
probably benign |
Het |
Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,422,240 (GRCm39) |
C4459R |
possibly damaging |
Het |
Myh10 |
A |
G |
11: 68,659,113 (GRCm39) |
E497G |
possibly damaging |
Het |
Nalcn |
A |
T |
14: 123,515,698 (GRCm39) |
V1701E |
possibly damaging |
Het |
Nat8f1 |
T |
C |
6: 85,887,891 (GRCm39) |
D23G |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,177,817 (GRCm39) |
M1067V |
probably benign |
Het |
Or4k36 |
T |
C |
2: 111,145,916 (GRCm39) |
F31L |
possibly damaging |
Het |
Pde4d |
T |
A |
13: 110,084,930 (GRCm39) |
|
probably null |
Het |
Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
Sema4c |
A |
G |
1: 36,591,398 (GRCm39) |
Y348H |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,381,595 (GRCm39) |
V958A |
possibly damaging |
Het |
Sez6l2 |
A |
G |
7: 126,566,002 (GRCm39) |
Y677C |
probably damaging |
Het |
Smad5 |
T |
C |
13: 56,883,654 (GRCm39) |
C347R |
probably damaging |
Het |
Smim19 |
A |
G |
8: 22,953,383 (GRCm39) |
Y95H |
probably benign |
Het |
Srrm2 |
C |
A |
17: 24,037,450 (GRCm39) |
|
probably benign |
Het |
Ssb |
A |
G |
2: 69,701,474 (GRCm39) |
K390E |
probably damaging |
Het |
Tars1 |
G |
A |
15: 11,392,068 (GRCm39) |
T248M |
probably damaging |
Het |
Tcirg1 |
A |
T |
19: 3,948,858 (GRCm39) |
F442L |
probably damaging |
Het |
Tex55 |
A |
G |
16: 38,648,336 (GRCm39) |
Y258H |
probably benign |
Het |
Tlk2 |
A |
G |
11: 105,112,133 (GRCm39) |
E162G |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,660,271 (GRCm39) |
C656R |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,719,406 (GRCm39) |
|
probably benign |
Het |
Uqcrc2 |
C |
T |
7: 120,244,461 (GRCm39) |
T201I |
probably damaging |
Het |
Zfp282 |
G |
T |
6: 47,867,579 (GRCm39) |
A252S |
possibly damaging |
Het |
Zfp473 |
G |
C |
7: 44,383,575 (GRCm39) |
P253A |
probably benign |
Het |
Zfp541 |
A |
G |
7: 15,824,786 (GRCm39) |
N1068D |
probably damaging |
Het |
Zfp946 |
A |
G |
17: 22,674,365 (GRCm39) |
Q373R |
probably damaging |
Het |
Zmat2 |
G |
A |
18: 36,927,010 (GRCm39) |
G6R |
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 |
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'- AGAATATGCCTTTCTAGGATAGACC -3'
(R):5'- TGTCTGGTTCCCTAATAAGAAAGC -3'
Sequencing Primer
(F):5'- GCTACTATTCTGGATAATCTTTGCAG -3'
(R):5'- AGAAAGCTTATTGAGGCTGACTTTTG -3'
|
Posted On |
2016-10-24 |