Incidental Mutation 'IGL03226:Nfia'
ID414841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfia
Ensembl Gene ENSMUSG00000028565
Gene Namenuclear factor I/A
Synonyms9430022M17Rik, NF1-A, 1110047K16Rik, NF1A
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03226
Quality Score
Status
Chromosome4
Chromosomal Location97772734-98118874 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 98063049 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 371 (P371Q)
Ref Sequence ENSEMBL: ENSMUSP00000074899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052018] [ENSMUST00000075448] [ENSMUST00000092532] [ENSMUST00000107057] [ENSMUST00000107062]
Predicted Effect probably benign
Transcript: ENSMUST00000052018
AA Change: P349Q

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: P349Q

DomainStartEndE-ValueType
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: P371Q

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: P371Q

DomainStartEndE-ValueType
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: P328Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: P328Q

DomainStartEndE-ValueType
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: P242Q
SMART Domains Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: P242Q

DomainStartEndE-ValueType
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: P371Q

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: P371Q

DomainStartEndE-ValueType
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: P201Q
SMART Domains Protein: ENSMUSP00000122641
Gene: ENSMUSG00000028565
AA Change: P201Q

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,157,609 V32A probably damaging Het
Als2 T C 1: 59,186,520 T944A probably benign Het
B020004J07Rik T A 4: 101,835,397 T469S probably benign Het
Bcat2 T A 7: 45,588,354 V348E probably damaging Het
Bnip2 A G 9: 69,996,174 D36G probably benign Het
C2cd5 T A 6: 143,072,566 D310V possibly damaging Het
Cltc G A 11: 86,720,287 T582M probably damaging Het
Dync2h1 T C 9: 7,125,918 H1896R probably benign Het
Efcab5 T C 11: 77,137,675 R413G possibly damaging Het
Fam131b C T 6: 42,318,954 M169I possibly damaging Het
Fam241b A G 10: 62,109,892 S52P probably benign Het
Fam35a T C 14: 34,268,371 T193A probably benign Het
Gpd2 G A 2: 57,304,486 probably null Het
Gucy1a1 T A 3: 82,119,024 Q41L probably benign Het
Ifna16 T C 4: 88,676,504 D118G probably benign Het
Kcnn1 T C 8: 70,846,491 probably benign Het
Lman1l A T 9: 57,610,007 Y365N probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Lyst A T 13: 13,709,559 H2984L probably benign Het
Myh7b C T 2: 155,620,483 Q369* probably null Het
Nalcn A C 14: 123,281,115 W1671G probably benign Het
Ndrg2 G A 14: 51,906,569 probably benign Het
Olfr975 A C 9: 39,950,423 probably null Het
Pcdhb22 A G 18: 37,518,956 D159G probably damaging Het
Plekhm3 A T 1: 64,921,800 D432E possibly damaging Het
Rab2a A G 4: 8,606,448 N195S probably benign Het
Sbf1 A G 15: 89,289,105 Y1764H possibly damaging Het
Scap A G 9: 110,384,267 T1127A possibly damaging Het
Slc45a2 A G 15: 11,022,192 D340G probably damaging Het
Tbc1d23 A T 16: 57,214,262 L58Q probably damaging Het
Tmcc1 T C 6: 116,133,976 T119A probably damaging Het
Tnfsf10 C A 3: 27,335,448 Y219* probably null Het
Traip G A 9: 107,970,993 R437Q probably damaging Het
Tyw3 T C 3: 154,587,550 T163A possibly damaging Het
Other mutations in Nfia
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Nfia APN 4 98065386 missense probably damaging 0.97
IGL02663:Nfia APN 4 98041619 missense probably benign 0.14
IGL02691:Nfia APN 4 98081808 nonsense probably null
IGL02705:Nfia APN 4 97783368 missense probably damaging 1.00
R0400:Nfia UTSW 4 98063136 missense probably damaging 0.96
R0611:Nfia UTSW 4 97783457 missense possibly damaging 0.75
R1568:Nfia UTSW 4 98111224 missense possibly damaging 0.93
R1716:Nfia UTSW 4 98063128 missense probably damaging 0.98
R3855:Nfia UTSW 4 98063022 missense probably damaging 1.00
R4038:Nfia UTSW 4 98020837 missense probably damaging 1.00
R4441:Nfia UTSW 4 97772913 critical splice donor site probably null
R4849:Nfia UTSW 4 98081811 missense probably damaging 1.00
R5184:Nfia UTSW 4 97783348 missense probably damaging 0.99
R5201:Nfia UTSW 4 98111225 missense probably damaging 0.98
R5254:Nfia UTSW 4 98014297 missense probably damaging 0.99
R5391:Nfia UTSW 4 97783301 missense probably damaging 0.96
R5551:Nfia UTSW 4 98014260 missense probably damaging 0.98
R5794:Nfia UTSW 4 97783601 missense possibly damaging 0.92
R5905:Nfia UTSW 4 98111251 missense possibly damaging 0.82
R5965:Nfia UTSW 4 98111292 makesense probably null
R6028:Nfia UTSW 4 98111251 missense possibly damaging 0.82
R7246:Nfia UTSW 4 98065342 missense probably damaging 1.00
R7669:Nfia UTSW 4 97783505 missense probably damaging 0.96
X0018:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0019:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0020:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0021:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0022:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0023:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0024:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0027:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0050:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0052:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0053:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0054:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0057:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0058:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0060:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0061:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0062:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0063:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0064:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0065:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0066:Nfia UTSW 4 98041655 missense probably damaging 0.97
X0067:Nfia UTSW 4 98041655 missense probably damaging 0.97
Posted On2016-08-02