Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Grhl1'

173901

Institutional Source

Beutler Lab

Gene Symbol

Grhl1

Ensembl Gene

ENSMUSG00000020656

Gene Name

grainyhead like transcription factor 1

Synonyms

LBP-32, p70 MGR, p61 MGR, Tcfcp2l2

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24572283-24617391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24611861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 513 (D513G)

Ref Sequence

ENSEMBL: ENSMUSP00000082689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020985] [ENSMUST00000085553]

AlphaFold

Q921D9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020985
AA Change: D431G

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: D431G

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000085553
AA Change: D513G

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: D513G

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0957

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,462,990	S751T	probably damaging	Het
Akna	T	G	4: 63,383,892	I581L	probably benign	Het
Cacnb4	A	G	2: 52,474,900	I117T	possibly damaging	Het
Capn1	A	T	19: 5,997,730	F434L	probably benign	Het
Cbs	T	C	17: 31,613,195	T547A	probably benign	Het
Col6a5	A	T	9: 105,862,749	L2557*	probably null	Het
D17Wsu92e	A	G	17: 27,793,960	S88P	probably damaging	Het
D1Ertd622e	A	T	1: 97,645,806	I178N	probably damaging	Het
Dach1	A	G	14: 98,169,114	S66P	unknown	Het
Ddx31	T	C	2: 28,892,520	V625A	probably benign	Het
Dmxl1	T	G	18: 49,962,261	V2969G	probably damaging	Het
Eapp	T	A	12: 54,685,960	K122*	probably null	Het
Epb41l5	G	T	1: 119,550,022		probably benign	Het
Fat1	T	C	8: 45,018,042	S1628P	probably damaging	Het
Fgfr2	T	A	7: 130,242,644	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,165,964	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,978,517	T1727S	probably benign	Het
Gak	A	T	5: 108,602,854	S397T	probably damaging	Het
Gm6040	T	A	8: 20,917,097	I36F	possibly damaging	Het
Gstt1	T	A	10: 75,784,106	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,701,027	V91G	probably damaging	Het
Hells	A	T	19: 38,967,783	I808L	probably benign	Het
Icmt	T	A	4: 152,299,715	V110E	possibly damaging	Het
Iqca	C	T	1: 90,140,038	V164M	probably damaging	Het
Klri1	G	A	6: 129,703,336	P119S	probably benign	Het
Krt71	C	A	15: 101,738,764		probably null	Het
Lpin1	A	G	12: 16,573,658		probably null	Het
Metap2	T	C	10: 93,870,197	H241R	probably damaging	Het
Myh15	A	G	16: 49,195,568	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,317,632	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,465,706		probably benign	Het
Npat	T	C	9: 53,555,134	V241A	probably benign	Het
Npbwr1	C	A	1: 5,917,254	V14L	probably benign	Het
Nup37	T	A	10: 88,178,234	V323E	possibly damaging	Het
Olfr1036	A	G	2: 86,075,616	N292S	probably damaging	Het
Olfr1351	C	A	10: 79,017,506	Y61*	probably null	Het
Olfr483	C	T	7: 108,103,591	T94I	probably benign	Het
Olfr743	A	T	14: 50,533,583	Q57L	probably benign	Het
Pdlim4	A	T	11: 54,056,254	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,898,395	D201G	probably benign	Het
Ptk7	A	T	17: 46,586,297	F370I	probably benign	Het
Pus7l	T	C	15: 94,533,636	N371D	probably benign	Het
Pzp	G	A	6: 128,503,555	A589V	probably benign	Het
Rasef	T	A	4: 73,734,549	R572W	probably damaging	Het
Reep5	T	C	18: 34,349,659	T166A	probably benign	Het
Rhov	A	G	2: 119,271,020	V35A	probably damaging	Het
Ripk4	C	T	16: 97,743,897	G517R	probably damaging	Het
Rnasel	A	G	1: 153,755,054	T439A	probably damaging	Het
Slamf9	A	G	1: 172,477,340	T174A	probably benign	Het
Slc12a9	A	G	5: 137,323,149	L414P	probably damaging	Het
Slf1	G	A	13: 77,066,648	R640*	probably null	Het
Slfn8	G	T	11: 83,016,886	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,419,702		probably benign	Het
Tm9sf3	A	C	19: 41,223,179	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,347	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,814,733	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,415,821	C982R	probably damaging	Het
Usp36	C	T	11: 118,273,566	V207M	probably damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vasp	G	A	7: 19,260,978		probably benign	Het
Vmn2r115	T	C	17: 23,359,539	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,507	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,621,268	N547K	probably damaging	Het
Wasf2	A	G	4: 133,176,591	I37V	probably benign	Het
Wwc2	T	C	8: 47,842,902	E1111G	unknown	Het
Zfp317	A	G	9: 19,647,312	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,781,275	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,864,036		probably null	Het

Other mutations in Grhl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Grhl1	APN	12	24612170	missense	probably damaging	1.00
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
cembalo	UTSW	12	24586152	critical splice donor site	probably null
gamba	UTSW	12	24612245	splice site	probably benign
Spinnet	UTSW	12	24584946	critical splice donor site	probably null
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
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	splice site	probably null
R6351:Grhl1	UTSW	12	24584858	missense	probably damaging	0.98
R7018:Grhl1	UTSW	12	24575997	missense	possibly damaging	0.47
R8211:Grhl1	UTSW	12	24586152	critical splice donor site	probably null
R8723:Grhl1	UTSW	12	24612245	splice site	probably benign
R8898:Grhl1	UTSW	12	24584946	critical splice donor site	probably null
R9575:Grhl1	UTSW	12	24586083	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTTCATGTTCTCCTACTGGGTG -3'
(R):5'- TTCCTTTCGGACATAGAGCAGCAC -3'

Sequencing Primer
(F):5'- TAGGCTGCCACTCCTGAG -3'
(R):5'- TGAGCCTTAGGATCTAACTGC -3'

Posted On

2014-04-24