Incidental Mutation 'R1908:Grhl1'
ID 210084
Institutional Source Beutler Lab
Gene Symbol Grhl1
Ensembl Gene ENSMUSG00000020656
Gene Name grainyhead like transcription factor 1
Synonyms p70 MGR, Tcfcp2l2, p61 MGR, LBP-32
MMRRC Submission 039927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1908 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 24622282-24667390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24658555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 400 (L400Q)
Ref Sequence ENSEMBL: ENSMUSP00000020985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020985] [ENSMUST00000085553]
AlphaFold Q921D9
Predicted Effect probably damaging
Transcript: ENSMUST00000020985
AA Change: L400Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: L400Q

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: L482Q

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: L482Q

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
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,847,924 (GRCm39) L852F possibly damaging Het
Abcc6 T C 7: 45,669,558 (GRCm39) probably null Het
Alg11 T G 8: 22,555,584 (GRCm39) C240G probably damaging Het
Aox1 A G 1: 58,141,783 (GRCm39) I1190V probably damaging Het
Apc2 T G 10: 80,150,678 (GRCm39) S1911A probably benign Het
Arfgef3 T C 10: 18,528,511 (GRCm39) D292G possibly damaging Het
Arhgef4 C A 1: 34,763,340 (GRCm39) S865R probably benign Het
Ass1 T A 2: 31,383,160 (GRCm39) Y190* probably null Het
B4galnt3 A T 6: 120,187,051 (GRCm39) probably null Het
Btnl10 C A 11: 58,811,367 (GRCm39) P230Q possibly damaging Het
C3 A G 17: 57,516,489 (GRCm39) Y1348H probably damaging Het
Ccdc198 G T 14: 49,464,032 (GRCm39) D292E probably damaging Het
Cebpz A T 17: 79,242,336 (GRCm39) Y439* probably null Het
Cic C A 7: 24,986,265 (GRCm39) T1229K probably damaging Het
Clip4 T C 17: 72,144,744 (GRCm39) S524P probably damaging Het
Col6a3 A C 1: 90,739,421 (GRCm39) I269R probably damaging Het
Dbh C T 2: 27,071,506 (GRCm39) T533I possibly damaging Het
Dcaf17 A T 2: 70,890,713 (GRCm39) R83* probably null Het
Dennd2b G A 7: 109,124,533 (GRCm39) Q686* probably null Het
Dnah1 A G 14: 30,984,515 (GRCm39) L3923P probably damaging Het
Dnah7a A T 1: 53,670,721 (GRCm39) D510E probably benign Het
Dock6 A G 9: 21,752,925 (GRCm39) F296S probably damaging Het
Eif4enif1 T C 11: 3,177,455 (GRCm39) S341P probably damaging Het
Epb41l1 G T 2: 156,352,737 (GRCm39) G461V possibly damaging Het
Epg5 T A 18: 78,002,247 (GRCm39) D555E probably benign Het
Fes T C 7: 80,036,609 (GRCm39) R113G probably damaging Het
Garre1 T A 7: 33,957,461 (GRCm39) I59L probably benign Het
Gm10684 A G 9: 45,021,511 (GRCm39) probably benign Het
Gm12185 T C 11: 48,806,231 (GRCm39) E320G probably benign Het
Gm14412 G T 2: 177,007,269 (GRCm39) H209N probably damaging Het
Gm14412 A C 2: 177,007,630 (GRCm39) S88R probably benign Het
Havcr1 T A 11: 46,664,511 (GRCm39) Y216* probably null Het
Hephl1 A C 9: 14,985,420 (GRCm39) Y745* probably null Het
Hmcn2 T G 2: 31,301,922 (GRCm39) probably null Het
Hs3st6 A G 17: 24,977,110 (GRCm39) K197E possibly damaging Het
Ifi214 C T 1: 173,357,077 (GRCm39) V9I probably benign Het
Jakmip2 T C 18: 43,700,209 (GRCm39) T450A probably benign Het
Lrp4 T A 2: 91,328,753 (GRCm39) V1551D possibly damaging Het
Macf1 A T 4: 123,351,634 (GRCm39) H1634Q possibly damaging Het
Mcpt8 T A 14: 56,321,291 (GRCm39) I58F probably benign Het
Mga T A 2: 119,757,075 (GRCm39) H1018Q possibly damaging Het
Myo10 T A 15: 25,801,308 (GRCm39) V1499E probably damaging Het
Myom2 G T 8: 15,131,023 (GRCm39) D320Y probably damaging Het
Or11g7 T A 14: 50,691,295 (GRCm39) M262K probably damaging Het
Or13a27 T C 7: 139,925,378 (GRCm39) I175V probably benign Het
Or2r11 C T 6: 42,437,360 (GRCm39) V198M probably benign Het
Or2t26 A C 11: 49,039,101 (GRCm39) N6H possibly damaging Het
Or4c115 G A 2: 88,927,888 (GRCm39) P128S probably damaging Het
Or5d47 A T 2: 87,804,403 (GRCm39) V202D possibly damaging Het
Pabpc4 G T 4: 123,182,861 (GRCm39) R166L possibly damaging Het
Pcdhb8 A G 18: 37,489,015 (GRCm39) E231G possibly damaging Het
Pomgnt2 A T 9: 121,811,257 (GRCm39) I508N possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prdm15 G T 16: 97,638,885 (GRCm39) D58E probably benign Het
Rgl2 A G 17: 34,151,122 (GRCm39) T117A probably benign Het
Rp1 A G 1: 4,418,943 (GRCm39) I723T probably damaging Het
Serpina3g A G 12: 104,207,536 (GRCm39) E233G probably damaging Het
Skint6 T A 4: 112,749,187 (GRCm39) S798C probably benign Het
Slc35f1 T C 10: 52,898,000 (GRCm39) L137P possibly damaging Het
Slc6a20a T C 9: 123,485,373 (GRCm39) N246S probably damaging Het
Slc7a2 T C 8: 41,369,534 (GRCm39) L663S probably benign Het
Slco1a4 A G 6: 141,761,173 (GRCm39) probably null Het
Slit2 A G 5: 48,439,330 (GRCm39) T41A probably damaging Het
Smc2 T C 4: 52,450,863 (GRCm39) I227T probably damaging Het
Smg1 A G 7: 117,753,422 (GRCm39) probably benign Het
Ssu2 A T 6: 112,361,388 (GRCm39) L23M probably benign Het
Syne2 A G 12: 76,141,053 (GRCm39) probably null Het
Tekt1 T C 11: 72,242,761 (GRCm39) T249A probably benign Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Thsd7b C T 1: 129,605,846 (GRCm39) P529L probably damaging Het
Tll1 C T 8: 64,478,141 (GRCm39) D871N probably damaging Het
Tlr11 A C 14: 50,598,664 (GRCm39) I217L probably benign Het
Tmem87b T A 2: 128,673,479 (GRCm39) V241D probably damaging Het
Tshz2 T A 2: 169,727,465 (GRCm39) I218N possibly damaging Het
Vmn1r18 A T 6: 57,367,026 (GRCm39) I176N possibly damaging Het
Vmn2r68 T A 7: 84,883,260 (GRCm39) H164L probably benign Het
Vmn2r74 T C 7: 85,601,650 (GRCm39) T663A probably benign Het
Vmn2r8 T C 5: 108,945,436 (GRCm39) T724A probably benign Het
Wdr11 T C 7: 129,206,954 (GRCm39) V289A possibly damaging Het
Zfp62 T A 11: 49,107,047 (GRCm39) D379E probably damaging Het
Zfp78 C T 7: 6,381,897 (GRCm39) P316S probably damaging Het
Zfyve27 T G 19: 42,159,987 (GRCm39) M1R probably null Het
Zkscan8 G A 13: 21,709,325 (GRCm39) P191L probably damaging Het
Other mutations in Grhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Grhl1 APN 12 24,662,169 (GRCm39) missense probably damaging 1.00
IGL01104:Grhl1 APN 12 24,634,453 (GRCm39) missense probably damaging 1.00
IGL01335:Grhl1 APN 12 24,658,057 (GRCm39) missense probably damaging 1.00
IGL01660:Grhl1 APN 12 24,658,577 (GRCm39) splice site probably null
IGL01725:Grhl1 APN 12 24,659,747 (GRCm39) splice site probably benign
IGL02869:Grhl1 APN 12 24,631,490 (GRCm39) missense probably damaging 1.00
bandit UTSW 12 24,628,025 (GRCm39) missense probably benign 0.31
cembalo UTSW 12 24,636,151 (GRCm39) critical splice donor site probably null
gamba UTSW 12 24,662,244 (GRCm39) splice site probably benign
Spinnet UTSW 12 24,634,945 (GRCm39) critical splice donor site probably null
R0048:Grhl1 UTSW 12 24,662,150 (GRCm39) splice site probably benign
R0373:Grhl1 UTSW 12 24,631,514 (GRCm39) missense probably benign 0.00
R0432:Grhl1 UTSW 12 24,632,918 (GRCm39) missense probably benign 0.29
R0442:Grhl1 UTSW 12 24,662,169 (GRCm39) missense probably damaging 1.00
R1531:Grhl1 UTSW 12 24,632,962 (GRCm39) critical splice donor site probably null
R1646:Grhl1 UTSW 12 24,661,860 (GRCm39) missense possibly damaging 0.64
R1874:Grhl1 UTSW 12 24,636,155 (GRCm39) splice site probably benign
R1892:Grhl1 UTSW 12 24,634,909 (GRCm39) missense probably damaging 1.00
R2051:Grhl1 UTSW 12 24,636,151 (GRCm39) critical splice donor site probably null
R2199:Grhl1 UTSW 12 24,662,169 (GRCm39) missense probably damaging 1.00
R2233:Grhl1 UTSW 12 24,658,510 (GRCm39) missense probably damaging 0.98
R3803:Grhl1 UTSW 12 24,634,918 (GRCm39) missense probably damaging 1.00
R3864:Grhl1 UTSW 12 24,665,929 (GRCm39) makesense probably null
R4227:Grhl1 UTSW 12 24,661,850 (GRCm39) missense probably benign
R4682:Grhl1 UTSW 12 24,658,432 (GRCm39) missense probably benign 0.00
R4709:Grhl1 UTSW 12 24,636,132 (GRCm39) missense possibly damaging 0.57
R5096:Grhl1 UTSW 12 24,653,049 (GRCm39) missense probably damaging 1.00
R5149:Grhl1 UTSW 12 24,662,178 (GRCm39) small deletion probably benign
R5580:Grhl1 UTSW 12 24,659,739 (GRCm39) missense probably benign 0.00
R6035:Grhl1 UTSW 12 24,658,449 (GRCm39) missense probably benign 0.00
R6035:Grhl1 UTSW 12 24,658,449 (GRCm39) missense probably benign 0.00
R6110:Grhl1 UTSW 12 24,630,746 (GRCm39) splice site probably null
R6351:Grhl1 UTSW 12 24,634,857 (GRCm39) missense probably damaging 0.98
R7018:Grhl1 UTSW 12 24,625,996 (GRCm39) missense possibly damaging 0.47
R8211:Grhl1 UTSW 12 24,636,151 (GRCm39) critical splice donor site probably null
R8723:Grhl1 UTSW 12 24,662,244 (GRCm39) splice site probably benign
R8898:Grhl1 UTSW 12 24,634,945 (GRCm39) critical splice donor site probably null
R9575:Grhl1 UTSW 12 24,636,082 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCCTGAGTTTCTGCTGC -3'
(R):5'- AGGTGACAGATGCGGCATTG -3'

Sequencing Primer
(F):5'- AGCTCACTTTATAGACCAGGCTGG -3'
(R):5'- AGATGCGGCATTGCGCAAC -3'
Posted On 2014-06-30