Incidental Mutation 'R6349:Deaf1'
ID 512435
Institutional Source Beutler Lab
Gene Symbol Deaf1
Ensembl Gene ENSMUSG00000058886
Gene Name DEAF1, transcription factor
Synonyms C230009B13Rik, NUDR, suppressin
MMRRC Submission 044503-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.729) question?
Stock # R6349 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 140877093-140907603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140902863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 154 (T154A)
Ref Sequence ENSEMBL: ENSMUSP00000147728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080553] [ENSMUST00000126510] [ENSMUST00000145184] [ENSMUST00000209397] [ENSMUST00000209608] [ENSMUST00000210830] [ENSMUST00000211537] [ENSMUST00000210816]
AlphaFold Q9Z1T5
Predicted Effect possibly damaging
Transcript: ENSMUST00000080553
AA Change: T154A

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886
AA Change: T154A

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 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 unknown
Transcript: ENSMUST00000210062
AA Change: T128A
Predicted Effect probably benign
Transcript: ENSMUST00000210830
AA Change: T154A

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211537
AA Change: T154A

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000210816
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.6%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012A03Rik A G 6: 32,028,595 (GRCm39) Y9C probably benign Het
4930433I11Rik A C 7: 40,644,196 (GRCm39) M622L possibly damaging Het
Abca8b C T 11: 109,825,544 (GRCm39) probably null Het
Adam28 T C 14: 68,870,621 (GRCm39) I351V probably benign Het
Adgrd1 A C 5: 129,219,603 (GRCm39) probably null Het
Ank3 T A 10: 69,815,269 (GRCm39) I473N probably damaging Het
Ankrd6 A T 4: 32,822,231 (GRCm39) H179Q probably damaging Het
Ano6 A G 15: 95,863,903 (GRCm39) R808G probably damaging Het
Anxa8 A T 14: 33,819,850 (GRCm39) I280F probably damaging Het
Asb2 C T 12: 103,312,118 (GRCm39) M1I probably null Het
Astn1 C T 1: 158,491,691 (GRCm39) Q1023* probably null Het
Cast T A 13: 74,869,314 (GRCm39) E542D probably damaging Het
Ccdc162 C T 10: 41,570,396 (GRCm39) E30K probably damaging Het
Ccdc87 T C 19: 4,891,347 (GRCm39) V613A probably damaging Het
Cdk13 T C 13: 17,926,304 (GRCm39) N832S probably damaging Het
Celsr1 T A 15: 85,915,885 (GRCm39) N696I probably damaging Het
Chd3 T C 11: 69,254,857 (GRCm39) E161G possibly damaging Het
Cxcr4 C A 1: 128,517,014 (GRCm39) V216F possibly damaging Het
Cyp4a10 A G 4: 115,382,555 (GRCm39) I282V probably benign Het
Dido1 A T 2: 180,302,494 (GRCm39) D1803E probably benign Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah5 G A 15: 28,238,657 (GRCm39) V400M probably damaging Het
Fbxo15 A G 18: 84,982,267 (GRCm39) I240V probably benign Het
Fcrl2 A G 3: 87,159,803 (GRCm39) C484R probably damaging Het
Fech G T 18: 64,603,856 (GRCm39) Y164* probably null Het
Fer1l5 T A 1: 36,450,355 (GRCm39) W1175R probably damaging Het
Fgfrl1 T C 5: 108,853,372 (GRCm39) Y241H probably damaging Het
Flvcr2 T C 12: 85,793,974 (GRCm39) Y117H probably benign Het
Fsip2 T A 2: 82,823,416 (GRCm39) M6383K probably benign Het
Gcc2 T A 10: 58,105,296 (GRCm39) D141E probably benign Het
Glt1d1 A C 5: 127,783,950 (GRCm39) R301S probably benign Het
Hars1 G C 18: 36,916,107 (GRCm39) A16G probably benign Het
Hmcn2 G T 2: 31,278,385 (GRCm39) G1696C probably damaging Het
Hydin T A 8: 111,145,091 (GRCm39) L814* probably null Het
Izumo4 T A 10: 80,538,551 (GRCm39) M1K probably null Het
Kdm5d T A Y: 916,847 (GRCm39) M414K probably damaging Homo
Kif21b G A 1: 136,086,064 (GRCm39) V812I probably damaging Het
Map3k7 A G 4: 31,988,661 (GRCm39) D270G possibly damaging Het
Mical3 A G 6: 120,936,486 (GRCm39) S1347P probably benign Het
Mras T A 9: 99,276,669 (GRCm39) D67V probably damaging Het
Mtnr1b A T 9: 15,774,509 (GRCm39) Y183* probably null Het
Muc16 A T 9: 18,568,625 (GRCm39) L1298Q unknown Het
Myh2 A T 11: 67,083,829 (GRCm39) I1536F probably benign Het
Or7c19 T C 8: 85,957,787 (GRCm39) I221T possibly damaging Het
Osmr G T 15: 6,850,544 (GRCm39) D686E probably benign Het
Pah T A 10: 87,414,831 (GRCm39) D394E probably benign Het
Pla1a T A 16: 38,237,486 (GRCm39) S71C probably benign Het
Proc T A 18: 32,266,486 (GRCm39) I114L probably benign Het
Psd T G 19: 46,301,826 (GRCm39) probably null Het
Psmb6 C T 11: 70,418,364 (GRCm39) Q226* probably null Het
Rnpepl1 A T 1: 92,847,563 (GRCm39) N717Y probably damaging Het
Rundc1 T C 11: 101,324,988 (GRCm39) S565P probably benign Het
Serpinb5 T A 1: 106,809,495 (GRCm39) S300R probably benign Het
Serpinf2 T C 11: 75,323,257 (GRCm39) D483G probably damaging Het
Sgsm3 T C 15: 80,892,547 (GRCm39) I291T probably benign Het
Smg6 T A 11: 74,944,600 (GRCm39) D116E possibly damaging Het
Srfbp1 G T 18: 52,622,034 (GRCm39) S365I probably benign Het
Stkld1 A G 2: 26,835,872 (GRCm39) T236A probably benign Het
Susd5 T C 9: 113,924,870 (GRCm39) V251A probably benign Het
Tcf25 A G 8: 124,118,332 (GRCm39) Y314C probably damaging Het
Tmem210 A G 2: 25,179,048 (GRCm39) D112G possibly damaging Het
Tubb2b A G 13: 34,311,528 (GRCm39) Y422H probably damaging Het
Tyw1 T C 5: 130,305,872 (GRCm39) S332P possibly damaging Het
Vmn1r29 A C 6: 58,284,412 (GRCm39) Q44P probably damaging Het
Vrtn T C 12: 84,695,792 (GRCm39) S181P probably damaging Het
Wdr76 T A 2: 121,364,712 (GRCm39) Y437N possibly damaging Het
Zc3h18 C A 8: 123,135,025 (GRCm39) probably benign Het
Zfp287 G T 11: 62,616,168 (GRCm39) D174E probably damaging Het
Zfp800 A T 6: 28,244,601 (GRCm39) Y121* probably null Het
Zfyve19 T A 2: 119,041,078 (GRCm39) L57Q probably damaging Het
Other mutations in Deaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02306:Deaf1 APN 7 140,904,094 (GRCm39) critical splice acceptor site probably null
IGL02393:Deaf1 APN 7 140,893,246 (GRCm39) missense possibly damaging 0.95
IGL03108:Deaf1 APN 7 140,902,874 (GRCm39) missense probably damaging 1.00
IGL03344:Deaf1 APN 7 140,877,461 (GRCm39) missense probably benign 0.08
Qball UTSW 7 140,902,381 (GRCm39) missense probably damaging 1.00
R1543:Deaf1 UTSW 7 140,904,060 (GRCm39) missense possibly damaging 0.65
R1702:Deaf1 UTSW 7 140,894,867 (GRCm39) missense probably damaging 1.00
R2849:Deaf1 UTSW 7 140,894,367 (GRCm39) makesense probably null
R4600:Deaf1 UTSW 7 140,890,884 (GRCm39) missense possibly damaging 0.59
R4611:Deaf1 UTSW 7 140,890,884 (GRCm39) missense possibly damaging 0.59
R4649:Deaf1 UTSW 7 140,877,486 (GRCm39) missense possibly damaging 0.59
R4953:Deaf1 UTSW 7 140,902,381 (GRCm39) missense probably damaging 1.00
R7168:Deaf1 UTSW 7 140,904,509 (GRCm39) intron probably benign
R7186:Deaf1 UTSW 7 140,907,383 (GRCm39) missense probably benign
R7343:Deaf1 UTSW 7 140,902,871 (GRCm39) missense probably damaging 1.00
R7407:Deaf1 UTSW 7 140,877,492 (GRCm39) missense possibly damaging 0.88
R8190:Deaf1 UTSW 7 140,894,324 (GRCm39) missense probably damaging 1.00
R8692:Deaf1 UTSW 7 140,877,444 (GRCm39) missense probably benign 0.04
R9008:Deaf1 UTSW 7 140,904,078 (GRCm39) missense probably damaging 0.96
R9089:Deaf1 UTSW 7 140,877,465 (GRCm39) missense probably damaging 1.00
Z1176:Deaf1 UTSW 7 140,881,387 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TAGTGCCAACCCTTCAGTGG -3'
(R):5'- TCCTCTCTTGCTGATAAGTGAC -3'

Sequencing Primer
(F):5'- AGTGGGCAGCACTCCTTCTC -3'
(R):5'- CTAGTGTCTTGCAGTAGGGCCAC -3'
Posted On 2018-04-27