Incidental Mutation 'IGL02393:Deaf1'
ID293901
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: 0.868) question?
Stock #IGL02393
Quality Score
Status
Chromosome7
Chromosomal Location141297180-141327690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 141313333 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 382 (V382E)
Ref Sequence ENSEMBL: ENSMUSP00000147728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080553] [ENSMUST00000209397] [ENSMUST00000210816] [ENSMUST00000210830] [ENSMUST00000211146] [ENSMUST00000211537]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080553
AA Change: V382E

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886
AA Change: V382E

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: ENSMUST00000209397
Predicted Effect probably benign
Transcript: ENSMUST00000209600
Predicted Effect probably benign
Transcript: ENSMUST00000210062
Predicted Effect probably benign
Transcript: ENSMUST00000210816
Predicted Effect probably benign
Transcript: ENSMUST00000210830
Predicted Effect probably benign
Transcript: ENSMUST00000211146
Predicted Effect possibly damaging
Transcript: ENSMUST00000211537
AA Change: V382E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,687,368 I253M probably damaging Het
Adam32 A T 8: 24,920,053 Y129N probably damaging Het
Afap1l2 T C 19: 56,914,440 K695R probably damaging Het
Arhgap18 T G 10: 26,877,183 S357R probably benign Het
Camsap1 T C 2: 25,938,322 H1130R probably benign Het
Cdkl4 A G 17: 80,560,415 F35L probably damaging Het
Crnn A G 3: 93,149,368 H487R probably damaging Het
Dcaf4 C T 12: 83,530,031 P95L probably damaging Het
Dph7 T G 2: 24,966,597 V187G possibly damaging Het
Fat3 G T 9: 15,988,412 C3108* probably null Het
Ggt5 T C 10: 75,610,237 probably benign Het
Kif26a G A 12: 112,172,664 V396M probably damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mterf4 C T 1: 93,302,879 V182I possibly damaging Het
Nsg1 T C 5: 38,158,911 D32G probably damaging Het
Olfr175-ps1 A G 16: 58,824,046 I221T probably damaging Het
Olfr788 T C 10: 129,473,195 S168P probably damaging Het
Olfr808 T A 10: 129,767,793 V99E probably benign Het
P3h2 T C 16: 25,992,825 Y216C probably damaging Het
Pdzd9 A C 7: 120,662,983 Y85* probably null Het
Prkdc T A 16: 15,816,758 V3589D probably benign Het
Qars A G 9: 108,514,329 T26A probably benign Het
Rhd T C 4: 134,884,095 S189P probably benign Het
Rhobtb1 A T 10: 69,288,987 H555L probably damaging Het
Rogdi G A 16: 5,009,224 S306F probably benign Het
Slc25a25 C T 2: 32,417,843 V259I probably benign Het
Srrm1 A T 4: 135,321,414 probably benign Het
Stkld1 T C 2: 26,950,142 V408A probably benign Het
Thbs1 T C 2: 118,123,099 V999A possibly damaging Het
Tmprss11d T A 5: 86,303,612 *280L probably null Het
Trim54 A G 5: 31,131,980 probably benign Het
Tspear G A 10: 77,836,573 R202H probably damaging Het
Vwa8 G A 14: 79,182,977 G1706D probably damaging Het
Other mutations in Deaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02306:Deaf1 APN 7 141324181 critical splice acceptor site probably null
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
Z1176:Deaf1 UTSW 7 141301474 nonsense probably null
Posted On2015-04-16