Incidental Mutation 'IGL00472:Grhl1'
ID11136
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 #IGL00472
Quality Score
Status
Chromosome12
Chromosomal Location24572283-24617391 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 24612170 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 536 (R536L)
Ref Sequence ENSEMBL: ENSMUSP00000082689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020985] [ENSMUST00000085553]
Predicted Effect probably damaging
Transcript: ENSMUST00000020985
AA Change: R454L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: R454L

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: R536L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: R536L

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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 C T 7: 81,095,653 probably benign Het
Atp8b1 T A 18: 64,564,430 I448F probably benign Het
C2cd2l A G 9: 44,317,103 L156P probably damaging Het
Cbll1 G A 12: 31,487,833 P308S probably damaging Het
Ccl3 C T 11: 83,648,641 S39N possibly damaging Het
Cnih4 G T 1: 181,162,094 G30C probably damaging Het
Endod1 A T 9: 14,356,753 F479I possibly damaging Het
Gm572 T G 4: 148,667,392 V238G possibly damaging Het
Itgae A G 11: 73,113,694 K269R probably benign Het
Nin C A 12: 70,030,088 M1064I probably damaging Het
Pnkd A G 1: 74,285,922 K50E probably damaging Het
Rpl39l A G 16: 10,174,394 M29V probably benign Het
Spata5 A G 3: 37,436,644 H446R probably benign Het
Strip2 C T 6: 29,931,214 A388V probably benign Het
Tex21 A T 12: 76,206,797 N447K probably damaging Het
Zfp760 A G 17: 21,723,476 Y544C possibly damaging Het
Other mutations in Grhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Grhl1 APN 12 24584454 missense probably damaging 1.00
IGL01335:Grhl1 APN 12 24608058 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 On2012-12-06