Incidental Mutation 'IGL01335:Grhl1'
ID74607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grhl1
Ensembl Gene ENSMUSG00000020656
Gene Namegrainyhead like transcription factor 1
SynonymsLBP-32, p70 MGR, p61 MGR, Tcfcp2l2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01335
Quality Score
Status
Chromosome12
Chromosomal Location24572283-24617391 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24608058 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 351 (E351D)
Ref Sequence ENSEMBL: ENSMUSP00000020985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020985] [ENSMUST00000085553]
Predicted Effect probably damaging
Transcript: ENSMUST00000020985
AA Change: E351D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: E351D

DomainStartEndE-ValueType
Pfam:CP2 133 362 1.8e-87 PFAM
low complexity region 406 421 N/A INTRINSIC
low complexity region 488 500 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085553
AA Change: E433D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: E433D

DomainStartEndE-ValueType
Pfam:CP2 228 442 1.9e-82 PFAM
low complexity region 488 503 N/A INTRINSIC
low complexity region 570 582 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223442
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 can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a null allele display alopecia or sparse hair, abnormal hair follicle root sheaths, thickening of the cornified layer on the paws, and postnatal growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik A T 8: 45,973,605 probably benign Het
6820408C15Rik T A 2: 152,442,387 M300K possibly damaging Het
Adamts14 T A 10: 61,198,681 R1143W possibly damaging Het
Ankrd28 T C 14: 31,702,024 Y1083C probably damaging Het
Anxa8 T C 14: 34,089,590 M34T probably damaging Het
Aox1 G T 1: 58,082,153 E928* probably null Het
Atp8b5 T A 4: 43,302,628 F50L possibly damaging Het
Brpf1 A G 6: 113,319,337 S863G probably damaging Het
Cdc42bpb A G 12: 111,294,096 probably benign Het
Cdh6 C T 15: 13,051,309 A413T probably benign Het
Cfap97 A G 8: 46,170,455 Q294R probably damaging Het
Cit C T 5: 115,908,830 probably benign Het
Dmbt1 A G 7: 131,088,767 Y736C possibly damaging Het
Eno2 C T 6: 124,766,655 G107E probably damaging Het
Gja8 T C 3: 96,919,242 Q368R probably benign Het
Gm3633 T A 14: 42,640,638 probably benign Het
Gm4987 A T X: 46,455,878 noncoding transcript Het
Gna13 G A 11: 109,365,743 R164Q probably damaging Het
Idua A G 5: 108,680,871 Q280R probably benign Het
Igsf5 T A 16: 96,373,153 probably benign Het
Mrpl52 T C 14: 54,427,199 Y39H probably damaging Het
Naa16 A T 14: 79,345,116 probably benign Het
Naa35 T A 13: 59,616,796 L338Q probably damaging Het
Nat8l A T 5: 33,998,447 Y149F probably benign Het
Nck1 A T 9: 100,497,737 W154R probably damaging Het
Ncoa1 A T 12: 4,297,520 S351R probably benign Het
Olfr1046 A T 2: 86,217,572 L46Q probably damaging Het
Olfr1145 A T 2: 87,810,446 T209S probably damaging Het
Olfr1490 A T 19: 13,655,176 H249L probably damaging Het
Olfr765 T C 10: 129,046,511 K184R probably benign Het
Pacs1 A T 19: 5,142,632 V624E probably damaging Het
Pde6b G A 5: 108,423,513 R444H probably benign Het
Pigk A T 3: 152,742,536 T226S probably benign Het
Prkdc T C 16: 15,816,896 probably null Het
Ptbp1 G A 10: 79,862,874 probably null Het
Pyroxd1 T C 6: 142,361,758 V418A probably damaging Het
Rhot1 A T 11: 80,250,229 D421V probably damaging Het
Rimkla T C 4: 119,477,959 T76A possibly damaging Het
Rtn1 A G 12: 72,308,350 V274A probably benign Het
Tatdn2 T A 6: 113,704,056 M289K probably benign Het
Trak1 A G 9: 121,454,316 T476A possibly damaging Het
Ube2i C A 17: 25,269,436 Q11H probably damaging Het
Ugt2a3 A T 5: 87,336,785 C127S probably damaging Het
Uimc1 T A 13: 55,034,911 Q619L probably benign Het
Upk3a T A 15: 85,019,585 Y162N probably damaging Het
Usp33 T C 3: 152,392,217 S849P probably damaging Het
Vmn2r120 G A 17: 57,525,732 T149I possibly damaging Het
Vmn2r15 G A 5: 109,286,736 P701S possibly damaging Het
Vmn2r28 T C 7: 5,481,088 I704M possibly damaging Het
Wdhd1 T C 14: 47,250,782 E756G possibly damaging Het
Xlr3c C A X: 73,260,033 V102F probably benign Het
Zfp384 T G 6: 125,025,053 D220E probably benign Het
Zfp521 A T 18: 13,844,719 V879E probably benign Het
Other mutations in Grhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Grhl1 APN 12 24612170 missense probably damaging 1.00
IGL01104:Grhl1 APN 12 24584454 missense probably damaging 1.00
IGL01660:Grhl1 APN 12 24608578 splice site probably null
IGL01725:Grhl1 APN 12 24609748 splice site probably benign
IGL02869:Grhl1 APN 12 24581491 missense probably damaging 1.00
bandit UTSW 12 24578027 missense probably benign 0.31
R0048:Grhl1 UTSW 12 24612151 splice site probably benign
R0373:Grhl1 UTSW 12 24581515 missense probably benign 0.00
R0432:Grhl1 UTSW 12 24582919 missense probably benign 0.29
R0442:Grhl1 UTSW 12 24612170 missense probably damaging 1.00
R1531:Grhl1 UTSW 12 24582963 critical splice donor site probably null
R1646:Grhl1 UTSW 12 24611861 missense possibly damaging 0.64
R1874:Grhl1 UTSW 12 24586156 splice site probably benign
R1892:Grhl1 UTSW 12 24584910 missense probably damaging 1.00
R1908:Grhl1 UTSW 12 24608556 missense probably damaging 0.99
R2051:Grhl1 UTSW 12 24586152 critical splice donor site probably null
R2199:Grhl1 UTSW 12 24612170 missense probably damaging 1.00
R2233:Grhl1 UTSW 12 24608511 missense probably damaging 0.98
R3803:Grhl1 UTSW 12 24584919 missense probably damaging 1.00
R3864:Grhl1 UTSW 12 24615930 makesense probably null
R4227:Grhl1 UTSW 12 24611851 missense probably benign
R4682:Grhl1 UTSW 12 24608433 missense probably benign 0.00
R4709:Grhl1 UTSW 12 24586133 missense possibly damaging 0.57
R5096:Grhl1 UTSW 12 24603050 missense probably damaging 1.00
R5149:Grhl1 UTSW 12 24612179 small deletion probably benign
R5580:Grhl1 UTSW 12 24609740 missense probably benign 0.00
R6035:Grhl1 UTSW 12 24608450 missense probably benign 0.00
R6035:Grhl1 UTSW 12 24608450 missense probably benign 0.00
R6110:Grhl1 UTSW 12 24580747 unclassified probably null
R6351:Grhl1 UTSW 12 24584858 missense probably damaging 0.98
R7018:Grhl1 UTSW 12 24575997 missense possibly damaging 0.47
Posted On2013-10-07