Incidental Mutation 'R3864:Grhl1'
ID 276465
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3864 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 24622282-24667390 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 24665929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 619 (*619Q)
Ref Sequence ENSEMBL: ENSMUSP00000082689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020985] [ENSMUST00000085553]
AlphaFold Q921D9
Predicted Effect probably null
Transcript: ENSMUST00000020985
AA Change: *537Q
SMART Domains Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: *537Q

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 null
Transcript: ENSMUST00000085553
AA Change: *619Q
SMART Domains Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: *619Q

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat G A 11: 116,487,642 (GRCm39) G114S probably damaging Het
Abcc4 G A 14: 118,853,827 (GRCm39) A360V probably benign Het
Catsper1 T C 19: 5,386,204 (GRCm39) S146P possibly damaging Het
Ccny A T 18: 9,449,604 (GRCm39) L23Q probably damaging Het
Chml A T 1: 175,515,810 (GRCm39) V37D probably damaging Het
Cspg4b A G 13: 113,459,485 (GRCm39) T1339A possibly damaging Het
D430041D05Rik T C 2: 104,044,522 (GRCm39) I825M possibly damaging Het
Dhx40 A T 11: 86,680,071 (GRCm39) V422E possibly damaging Het
Evi2 T A 11: 79,406,472 (GRCm39) I368F probably benign Het
Gm10309 A C 17: 86,806,421 (GRCm39) probably benign Het
Greb1 G A 12: 16,752,421 (GRCm39) R974W probably damaging Het
Ighv1-7 A G 12: 114,502,266 (GRCm39) I67T probably damaging Het
Lats1 T C 10: 7,581,510 (GRCm39) V765A probably damaging Het
Lrrd1 G A 5: 3,901,248 (GRCm39) V518I probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Marchf11 C T 15: 26,387,952 (GRCm39) A269V probably damaging Het
Mep1b A G 18: 21,217,226 (GRCm39) N115S possibly damaging Het
Mfn1 A G 3: 32,617,241 (GRCm39) D41G possibly damaging Het
Naa25 T A 5: 121,547,260 (GRCm39) M132K probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pcdhb3 A G 18: 37,436,329 (GRCm39) E765G probably damaging Het
Scfd2 T G 5: 74,558,381 (GRCm39) K499Q possibly damaging Het
Tbc1d2 T C 4: 46,620,484 (GRCm39) D442G probably benign Het
Wwc1 T A 11: 35,801,143 (GRCm39) D98V probably damaging Het
Zfp426 G A 9: 20,381,382 (GRCm39) T521I possibly 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
R1908:Grhl1 UTSW 12 24,658,555 (GRCm39) missense probably damaging 0.99
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
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'- TGAGCAAATCCAAGCCTAGC -3'
(R):5'- GGTACAAAGTTCTCATGCTTCG -3'

Sequencing Primer
(F):5'- TCCAAGCCTAGCTCCACAG -3'
(R):5'- AAAGTTCTCATGCTTCGCTTTCTAAG -3'
Posted On 2015-04-06