Mutagenetix > Incidental Mutation

Incidental Mutation 'R4650:Grhl3'

401849

Institutional Source

Beutler Lab

Gene Symbol

Grhl3

Ensembl Gene

ENSMUSG00000037188

Gene Name

grainyhead like transcription factor 3

Synonyms

ct, Som, Get1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R4650 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

135269199-135300941 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 135276547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105855]

AlphaFold

Q5FWH3

Predicted Effect

probably null
Transcript: ENSMUST00000105855

SMART Domains

Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188

Domain	Start	End	E-Value	Type
Pfam:CP2	215	421	2.5e-81	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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 may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for the variably penetrant curly-tail mutation (ct) show symptoms of cranial or spinal neural tube defects such as curly tails and/or spina bifida; homozygotes with more severe phenotypes display exencephaly and die in utero. Homozygous knockout mice show severe neural tube defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	A	16: 88,860,603 (GRCm39)	Y77F	unknown	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Aldoa	A	G	7: 126,396,879 (GRCm39)	S71P	possibly damaging	Het
Arhgef12	A	G	9: 42,893,266 (GRCm39)	V979A	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Brd8	T	C	18: 34,739,752 (GRCm39)	T674A	probably benign	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Capza1	A	G	3: 104,752,296 (GRCm39)	V14A	probably damaging	Het
Cdk2	A	T	10: 128,538,364 (GRCm39)	I135N	probably damaging	Het
Celf4	A	T	18: 25,629,302 (GRCm39)	M407K	possibly damaging	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cideb	A	G	14: 55,992,688 (GRCm39)	V76A	possibly damaging	Het
Dbpht2	C	G	12: 74,345,933 (GRCm39)		noncoding transcript	Het
Dis3l2	A	G	1: 86,918,043 (GRCm39)	D550G	possibly damaging	Het
Dnah1	A	T	14: 31,006,844 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,619,307 (GRCm39)	L1293*	probably null	Het
Elp5	A	G	11: 69,860,398 (GRCm39)	V203A	possibly damaging	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Gjb3	T	C	4: 127,220,484 (GRCm39)	Y16C	probably damaging	Het
Gm5773	A	G	3: 93,680,712 (GRCm39)	D128G	probably benign	Het
Gnb1l	T	C	16: 18,363,025 (GRCm39)		probably null	Het
Gon4l	G	A	3: 88,770,859 (GRCm39)	D514N	possibly damaging	Het
Hoxc10	T	C	15: 102,875,698 (GRCm39)	S136P	probably benign	Het
Ift22	G	A	5: 136,940,655 (GRCm39)	V107I	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lgi4	G	A	7: 30,768,554 (GRCm39)	A518T	probably benign	Het
Lhx2	T	A	2: 38,250,052 (GRCm39)	N290K	probably damaging	Het
Ltbp4	A	T	7: 27,013,734 (GRCm39)	C1092S	probably damaging	Het
Macf1	T	C	4: 123,367,412 (GRCm39)	I2450V	probably benign	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Myb	A	G	10: 21,028,840 (GRCm39)	L86P	probably damaging	Het
Myh3	C	T	11: 66,977,270 (GRCm39)	T333M	probably damaging	Het
Nek11	T	C	9: 105,225,279 (GRCm39)	N78D	possibly damaging	Het
Nmi	C	A	2: 51,838,646 (GRCm39)	C296F	probably benign	Het
Nphs1	A	T	7: 30,181,895 (GRCm39)	T1163S	probably benign	Het
Npy4r	C	T	14: 33,868,181 (GRCm39)	G369D	possibly damaging	Het
Ola1	T	C	2: 72,972,309 (GRCm39)	T221A	probably damaging	Het
Or51d1	A	G	7: 102,348,027 (GRCm39)	D194G	probably damaging	Het
Or8c11	T	C	9: 38,289,699 (GRCm39)	F168S	probably damaging	Het
Pfkfb2	A	T	1: 130,633,200 (GRCm39)	N184K	possibly damaging	Het
Plce1	T	C	19: 38,513,088 (GRCm39)	V129A	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pth	A	T	7: 112,985,026 (GRCm39)	*116K	probably null	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rwdd3	A	G	3: 120,952,826 (GRCm39)	F55S	probably damaging	Het
Serpinb9d	A	T	13: 33,386,836 (GRCm39)	L301F	probably benign	Het
Slc35e4	A	G	11: 3,862,677 (GRCm39)	C171R	probably damaging	Het
Slco1a4	A	T	6: 141,758,424 (GRCm39)	I529K	possibly damaging	Het
Styk1	A	T	6: 131,277,532 (GRCm39)	W370R	probably damaging	Het
Tmprss11e	C	A	5: 86,875,212 (GRCm39)	W18L	probably damaging	Het
Trpv1	A	C	11: 73,129,089 (GRCm39)	E2A	probably benign	Het
Unc13b	T	A	4: 43,261,035 (GRCm39)	I1799N	probably damaging	Het
Vmn1r213	G	A	13: 23,196,422 (GRCm39)	C335Y	possibly damaging	Het
Vps37c	C	T	19: 10,690,273 (GRCm39)	S245L	probably benign	Het
Wrn	T	C	8: 33,745,537 (GRCm39)	T1191A	probably benign	Het
Zfp13	A	G	17: 23,799,112 (GRCm39)	L153P	probably damaging	Het
Zfp472	T	G	17: 33,196,631 (GRCm39)	S235R	possibly damaging	Het

Other mutations in Grhl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02638:Grhl3	APN	4	135,284,176 (GRCm39)	missense	probably benign	0.00
IGL02868:Grhl3	APN	4	135,281,915 (GRCm39)	missense	probably damaging	1.00
Bite-size	UTSW	4	135,284,744 (GRCm39)	missense	possibly damaging	0.46
hammerkop	UTSW	4	135,273,557 (GRCm39)	missense	probably damaging	1.00
hoopoe	UTSW	4	135,286,457 (GRCm39)	missense	probably benign	0.00
Tropicbird	UTSW	4	135,286,415 (GRCm39)	nonsense	probably null
R0121:Grhl3	UTSW	4	135,279,860 (GRCm39)	missense	probably damaging	0.97
R0180:Grhl3	UTSW	4	135,281,841 (GRCm39)	missense	probably benign	0.00
R0627:Grhl3	UTSW	4	135,279,992 (GRCm39)	missense	probably benign	0.18
R0727:Grhl3	UTSW	4	135,273,565 (GRCm39)	missense	possibly damaging	0.90
R1248:Grhl3	UTSW	4	135,288,617 (GRCm39)	missense	probably benign	0.01
R1664:Grhl3	UTSW	4	135,279,861 (GRCm39)	missense	probably benign	0.11
R2910:Grhl3	UTSW	4	135,286,457 (GRCm39)	missense	probably benign	0.00
R2911:Grhl3	UTSW	4	135,286,457 (GRCm39)	missense	probably benign	0.00
R3773:Grhl3	UTSW	4	135,283,158 (GRCm39)	nonsense	probably null
R4033:Grhl3	UTSW	4	135,300,735 (GRCm39)	start codon destroyed	probably benign
R4521:Grhl3	UTSW	4	135,273,561 (GRCm39)	missense	probably damaging	1.00
R4576:Grhl3	UTSW	4	135,288,562 (GRCm39)	missense	probably damaging	1.00
R4697:Grhl3	UTSW	4	135,275,777 (GRCm39)	missense	probably damaging	1.00
R4919:Grhl3	UTSW	4	135,286,415 (GRCm39)	nonsense	probably null
R4920:Grhl3	UTSW	4	135,286,415 (GRCm39)	nonsense	probably null
R4961:Grhl3	UTSW	4	135,279,918 (GRCm39)	missense	probably damaging	1.00
R5100:Grhl3	UTSW	4	135,269,986 (GRCm39)	missense	probably benign
R5180:Grhl3	UTSW	4	135,286,415 (GRCm39)	nonsense	probably null
R5181:Grhl3	UTSW	4	135,286,415 (GRCm39)	nonsense	probably null
R5325:Grhl3	UTSW	4	135,286,415 (GRCm39)	nonsense	probably null
R6429:Grhl3	UTSW	4	135,284,507 (GRCm39)	missense	probably damaging	0.99
R6459:Grhl3	UTSW	4	135,284,744 (GRCm39)	missense	possibly damaging	0.46
R7047:Grhl3	UTSW	4	135,276,551 (GRCm39)	splice site	probably null
R7073:Grhl3	UTSW	4	135,300,723 (GRCm39)	missense	probably benign	0.00
R7345:Grhl3	UTSW	4	135,273,557 (GRCm39)	missense	probably damaging	1.00
R7797:Grhl3	UTSW	4	135,286,416 (GRCm39)	missense	possibly damaging	0.93
R7829:Grhl3	UTSW	4	135,288,532 (GRCm39)	missense	probably damaging	0.98
R8023:Grhl3	UTSW	4	135,277,640 (GRCm39)	missense	probably benign
R8472:Grhl3	UTSW	4	135,284,176 (GRCm39)	missense	probably benign	0.00
R8499:Grhl3	UTSW	4	135,276,549 (GRCm39)	critical splice donor site	probably null
R8766:Grhl3	UTSW	4	135,300,724 (GRCm39)	missense	probably benign	0.00
R8836:Grhl3	UTSW	4	135,288,640 (GRCm39)	missense	probably damaging	1.00
R9466:Grhl3	UTSW	4	135,283,412 (GRCm39)	missense	probably benign	0.06
Z1177:Grhl3	UTSW	4	135,279,997 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GAGAGCCATGTCCAAACAGG -3'
(R):5'- AACACGCTGTTAGCCTTTCC -3'

Sequencing Primer
(F):5'- GGTCAAAGCCACAGATGTCCTTC -3'
(R):5'- CTGGTTCCTGCTCTGCCCTAAG -3'

Posted On

2016-07-14