Incidental Mutation 'IGL02306:Deaf1'
ID287616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Deaf1
Ensembl Gene ENSMUSG00000058886
Gene NameDEAF1, transcription factor
SynonymsC230009B13Rik, suppressin, NUDR
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.881) question?
Stock #IGL02306
Quality Score
Status
Chromosome7
Chromosomal Location141297180-141327690 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to C at 141324181 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026578] [ENSMUST00000080553] [ENSMUST00000126510] [ENSMUST00000133012] [ENSMUST00000145184] [ENSMUST00000209397] [ENSMUST00000209608] [ENSMUST00000210816] [ENSMUST00000210830] [ENSMUST00000211537]
Predicted Effect probably benign
Transcript: ENSMUST00000026578
SMART Domains Protein: ENSMUSP00000026578
Gene: ENSMUSG00000025505

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 108 2.4e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000080553
SMART Domains Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886

DomainStartEndE-ValueType
SCOP:d1gkub1 6 35 9e-3 SMART
low complexity region 43 68 N/A INTRINSIC
low complexity region 88 105 N/A INTRINSIC
low complexity region 167 186 N/A INTRINSIC
SAND 202 274 9.78e-40 SMART
low complexity region 277 286 N/A INTRINSIC
low complexity region 324 338 N/A INTRINSIC
Pfam:zf-MYND 505 541 8.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126510
SMART Domains Protein: ENSMUSP00000123330
Gene: ENSMUSG00000025505

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 109 1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128649
Predicted Effect probably benign
Transcript: ENSMUST00000133012
SMART Domains Protein: ENSMUSP00000116695
Gene: ENSMUSG00000025505

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 109 1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145184
SMART Domains Protein: ENSMUSP00000117633
Gene: ENSMUSG00000025505

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:Transmemb_17 25 78 5.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155657
Predicted Effect probably benign
Transcript: ENSMUST00000209397
Predicted Effect probably benign
Transcript: ENSMUST00000209608
Predicted Effect probably benign
Transcript: ENSMUST00000210062
Predicted Effect probably benign
Transcript: ENSMUST00000210816
Predicted Effect probably benign
Transcript: ENSMUST00000210830
Predicted Effect probably null
Transcript: ENSMUST00000211537
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 zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit frequent exencephaly associated with neonatal lethality, rib cage abnormalities, and a low frequency of homeotic transformations of cervical segments but no presphenoid bone or cranial nerve defects; non-exencephalic survivors are healthy and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,158,395 Y680C probably damaging Het
Abcb11 C T 2: 69,265,457 W846* probably null Het
Adam34 G A 8: 43,650,485 R708C probably benign Het
Adam6a T A 12: 113,545,723 L572Q possibly damaging Het
Aldoart2 A G 12: 55,565,704 Y138C probably damaging Het
Amigo1 T A 3: 108,187,986 F267Y probably benign Het
Car7 A G 8: 104,548,998 Y137C probably damaging Het
Ccar2 A T 14: 70,142,022 M509K probably benign Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cd163l1 T C 7: 140,223,356 C278R probably damaging Het
Cmya5 C T 13: 93,098,019 G187D probably damaging Het
Crot A T 5: 8,968,701 V555E possibly damaging Het
Cstf1 C T 2: 172,372,971 T4I probably benign Het
Cyp2a12 A G 7: 27,032,583 K250E probably damaging Het
Dse C T 10: 34,160,134 E249K probably damaging Het
E4f1 G T 17: 24,446,929 R88S probably damaging Het
Fam160b2 T C 14: 70,588,997 D217G probably benign Het
Fam83a A C 15: 57,995,308 D248A probably damaging Het
Hadhb T A 5: 30,166,749 L66Q probably null Het
Kalrn T C 16: 34,310,527 E440G probably damaging Het
Kif3b A G 2: 153,320,652 Y527C probably damaging Het
Krt4 T C 15: 101,921,305 I263V probably benign Het
Krtap29-1 A T 11: 99,978,266 V263E probably damaging Het
Mms19 A G 19: 41,966,264 L72P probably damaging Het
Mylpf T A 7: 127,213,158 probably benign Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Nedd4l T G 18: 65,172,954 S292R possibly damaging Het
Nlrc3 A C 16: 3,964,824 D240E probably damaging Het
Obscn A T 11: 58,999,671 I7345N unknown Het
Olfr1189 A T 2: 88,592,606 K267N probably benign Het
Ostn A T 16: 27,346,941 S127C probably damaging Het
Patl1 A G 19: 11,942,886 K735E possibly damaging Het
Pde12 A G 14: 26,668,378 L392P possibly damaging Het
Plxdc2 A G 2: 16,660,774 I213V probably benign Het
Plxna4 T A 6: 32,206,124 Y948F probably benign Het
Prlhr A T 19: 60,467,915 V71E probably damaging Het
Prlr C T 15: 10,328,674 P412S probably benign Het
Prmt9 A G 8: 77,560,818 K196R probably benign Het
Rundc3a T A 11: 102,400,938 L387Q probably damaging Het
Ryr3 T C 2: 112,834,114 I1611V probably damaging Het
Ryr3 A G 2: 112,847,399 probably null Het
Sfxn2 T A 19: 46,590,548 M240K probably damaging Het
Skor2 T C 18: 76,862,679 S901P probably benign Het
Smad4 T C 18: 73,662,869 probably null Het
Snrnp40 T G 4: 130,365,100 C100W probably benign Het
Spink5 T A 18: 43,964,444 D19E probably damaging Het
Sult1d1 T A 5: 87,556,055 probably benign Het
Wdr59 G A 8: 111,492,733 L231F probably damaging Het
Other mutations in Deaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02393:Deaf1 APN 7 141313333 missense possibly damaging 0.95
IGL03108:Deaf1 APN 7 141322961 missense probably damaging 1.00
IGL03344:Deaf1 APN 7 141297548 missense probably benign 0.08
Qball UTSW 7 141322468 missense probably damaging 1.00
R1543:Deaf1 UTSW 7 141324147 missense possibly damaging 0.65
R1702:Deaf1 UTSW 7 141314954 missense probably damaging 1.00
R2849:Deaf1 UTSW 7 141314454 makesense probably null
R4600:Deaf1 UTSW 7 141310971 missense possibly damaging 0.59
R4611:Deaf1 UTSW 7 141310971 missense possibly damaging 0.59
R4649:Deaf1 UTSW 7 141297573 missense possibly damaging 0.59
R4953:Deaf1 UTSW 7 141322468 missense probably damaging 1.00
R6349:Deaf1 UTSW 7 141322950 missense possibly damaging 0.74
R7168:Deaf1 UTSW 7 141324596 intron probably benign
R7186:Deaf1 UTSW 7 141327470 missense probably benign
R7343:Deaf1 UTSW 7 141322958 missense probably damaging 1.00
R7407:Deaf1 UTSW 7 141297579 missense possibly damaging 0.88
R8190:Deaf1 UTSW 7 141314411 missense probably damaging 1.00
R8692:Deaf1 UTSW 7 141297531 missense probably benign 0.04
Z1176:Deaf1 UTSW 7 141301474 nonsense probably null
Posted On2015-04-16