Incidental Mutation 'IGL02868:Grhl3'
ID362411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grhl3
Ensembl Gene ENSMUSG00000037188
Gene Namegrainyhead like transcription factor 3
SynonymsSom, ct, Get1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.925) question?
Stock #IGL02868
Quality Score
Status
Chromosome4
Chromosomal Location135541888-135573630 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135554604 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 319 (D319G)
Ref Sequence ENSEMBL: ENSMUSP00000101481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105855]
Predicted Effect probably damaging
Transcript: ENSMUST00000105855
AA Change: D319G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: D319G

DomainStartEndE-ValueType
Pfam:CP2 215 421 2.5e-81 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 grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for the variably penetrant curly-tail mutation (ct) show symptoms of cranial or spinal neural tube defects such as curly tails and/or spina bifida; homozygotes with more severe phenotypes display exencephaly and die in utero. Homozygous knockout mice show severe neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap4 A G X: 73,900,402 I224T probably benign Het
Atp12a A G 14: 56,384,182 D758G probably damaging Het
Clca3b C A 3: 144,827,564 G569V probably damaging Het
Dlgap4 G A 2: 156,700,896 R73Q probably damaging Het
Efcc1 C T 6: 87,751,761 probably benign Het
Eno3 T A 11: 70,662,000 V369E probably damaging Het
Espl1 T A 15: 102,313,990 C1022* probably null Het
Gm884 A T 11: 103,615,139 L2001H probably benign Het
Huwe1 G A X: 151,908,833 R2538H possibly damaging Het
Ms4a4d T A 19: 11,550,282 I51N probably damaging Het
Mtmr9 T C 14: 63,524,139 N522S probably benign Het
Nfe2l1 A G 11: 96,820,140 I133T probably damaging Het
Ninl A G 2: 150,937,054 Y1296H probably benign Het
Nipal3 A G 4: 135,466,871 S284P probably damaging Het
Olfr1009 A T 2: 85,721,575 T57S probably benign Het
Olfr1286 A T 2: 111,420,493 F153I possibly damaging Het
Pramel5 G T 4: 144,271,352 N440K probably benign Het
Rabep1 T C 11: 70,874,746 V12A probably benign Het
Rbm5 G T 9: 107,749,700 probably benign Het
Ric3 T C 7: 109,054,419 E155G probably damaging Het
Slc12a7 T A 13: 73,806,388 M897K probably benign Het
Slc39a8 G T 3: 135,856,026 A169S probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Synrg G A 11: 83,987,050 probably benign Het
Tas2r107 T C 6: 131,659,286 T267A probably benign Het
Tead3 G T 17: 28,333,095 Y354* probably null Het
Trim3 T C 7: 105,613,032 K579R possibly damaging Het
Uaca A T 9: 60,863,637 K362M probably damaging Het
Vmn2r94 A G 17: 18,244,054 I658T possibly damaging Het
Vps13b C T 15: 35,884,519 P3113S probably benign Het
Zfp251 A G 15: 76,854,534 S115P probably damaging Het
Zfp683 G A 4: 134,055,866 V214M probably benign Het
Other mutations in Grhl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02638:Grhl3 APN 4 135556865 missense probably benign 0.00
Bite-size UTSW 4 135557433 missense possibly damaging 0.46
R0121:Grhl3 UTSW 4 135552549 missense probably damaging 0.97
R0180:Grhl3 UTSW 4 135554530 missense probably benign 0.00
R0627:Grhl3 UTSW 4 135552681 missense probably benign 0.18
R0727:Grhl3 UTSW 4 135546254 missense possibly damaging 0.90
R1248:Grhl3 UTSW 4 135561306 missense probably benign 0.01
R1664:Grhl3 UTSW 4 135552550 missense probably benign 0.11
R2910:Grhl3 UTSW 4 135559146 missense probably benign 0.00
R2911:Grhl3 UTSW 4 135559146 missense probably benign 0.00
R3773:Grhl3 UTSW 4 135555847 nonsense probably null
R4033:Grhl3 UTSW 4 135573424 start codon destroyed probably benign
R4521:Grhl3 UTSW 4 135546250 missense probably damaging 1.00
R4576:Grhl3 UTSW 4 135561251 missense probably damaging 1.00
R4650:Grhl3 UTSW 4 135549236 splice site probably null
R4697:Grhl3 UTSW 4 135548466 missense probably damaging 1.00
R4919:Grhl3 UTSW 4 135559104 nonsense probably null
R4920:Grhl3 UTSW 4 135559104 nonsense probably null
R4961:Grhl3 UTSW 4 135552607 missense probably damaging 1.00
R5100:Grhl3 UTSW 4 135542675 missense probably benign
R5180:Grhl3 UTSW 4 135559104 nonsense probably null
R5181:Grhl3 UTSW 4 135559104 nonsense probably null
R5325:Grhl3 UTSW 4 135559104 nonsense probably null
R6429:Grhl3 UTSW 4 135557196 missense probably damaging 0.99
R6459:Grhl3 UTSW 4 135557433 missense possibly damaging 0.46
R7047:Grhl3 UTSW 4 135549240 splice site probably null
R7073:Grhl3 UTSW 4 135573412 missense probably benign 0.00
R7345:Grhl3 UTSW 4 135546246 missense probably damaging 1.00
Posted On2015-12-18