Mutagenetix > Incidental Mutation

Incidental Mutation 'R3773:Grhl3'

273415

Institutional Source

Beutler Lab

Gene Symbol

Grhl3

Ensembl Gene

ENSMUSG00000037188

Gene Name

grainyhead like transcription factor 3

Synonyms

ct, Som, Get1

MMRRC Submission

040749-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R3773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135269199-135300941 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 135283158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 303 (W303*)

Ref Sequence

ENSEMBL: ENSMUSP00000101481 (fasta)

Gene Model

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

AlphaFold

Q5FWH3

Predicted Effect

probably null
Transcript: ENSMUST00000105855
AA Change: W303*

SMART Domains

Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: W303*

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,532,046 (GRCm39)	K899N	probably benign	Het
Acsbg3	T	C	17: 57,183,262 (GRCm39)	M1T	probably null	Het
Adgrv1	G	A	13: 81,647,162 (GRCm39)	S3126L	probably damaging	Het
Apba3	C	A	10: 81,108,443 (GRCm39)		probably null	Het
Apobec4	G	T	1: 152,632,556 (GRCm39)	A195S	probably benign	Het
Asap3	C	T	4: 135,954,886 (GRCm39)	T72I	probably benign	Het
Cand2	T	A	6: 115,762,178 (GRCm39)	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,594,913 (GRCm39)	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,103,180 (GRCm39)	K19E	probably benign	Het
Cspg4b	A	G	13: 113,454,743 (GRCm39)	E263G	probably benign	Het
Cyp17a1	T	G	19: 46,658,162 (GRCm39)	K250T	probably damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dgcr8	T	C	16: 18,074,639 (GRCm39)	D712G	probably damaging	Het
Dsg2	T	C	18: 20,724,919 (GRCm39)	W442R	probably damaging	Het
Elavl2	C	T	4: 91,152,325 (GRCm39)	G131R	probably damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,989,264 (GRCm39)	D270G	probably damaging	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Fry	A	T	5: 150,321,663 (GRCm39)	R999S	probably damaging	Het
Gak	G	A	5: 108,730,538 (GRCm39)	T956I	probably benign	Het
Gps2	T	C	11: 69,806,927 (GRCm39)	F21L	probably damaging	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Matk	T	A	10: 81,094,131 (GRCm39)	L21Q	probably benign	Het
Mthfr	T	C	4: 148,128,907 (GRCm39)	V160A	probably benign	Het
Nhlrc4	T	A	17: 26,162,367 (GRCm39)	K127*	probably null	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Nup210l	T	G	3: 90,027,201 (GRCm39)	Y194*	probably null	Het
Or1j16	A	T	2: 36,530,333 (GRCm39)	Y94F	probably benign	Het
Or2h2	G	T	17: 37,396,957 (GRCm39)	Y33*	probably null	Het
Or7a41	G	A	10: 78,871,014 (GRCm39)	C128Y	possibly damaging	Het
Or9q2	T	A	19: 13,772,568 (GRCm39)	M136L	probably benign	Het
Pcdhb15	T	A	18: 37,608,943 (GRCm39)	V725D	probably benign	Het
Pes1	A	G	11: 3,925,548 (GRCm39)	Y221C	probably damaging	Het
Prkd3	T	C	17: 79,266,535 (GRCm39)	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,624,987 (GRCm39)	E97G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rims1	T	C	1: 22,492,034 (GRCm39)	D842G	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf26rt	C	T	6: 76,473,942 (GRCm39)	V225I	probably benign	Het
Rngtt	T	C	4: 33,330,889 (GRCm39)	I164T	probably damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Slco1a8	T	C	6: 141,918,061 (GRCm39)	K605R	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
Stxbp5	G	A	10: 9,644,671 (GRCm39)	T960I	probably damaging	Het
Suco	A	T	1: 161,671,565 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,805,893 (GRCm39)	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,177 (GRCm39)	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,539,363 (GRCm39)	*254W	probably null	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,571,954 (GRCm39)	V26A	probably damaging	Het
Upb1	T	A	10: 75,275,672 (GRCm39)		probably null	Het
Vmn1r32	T	A	6: 66,530,351 (GRCm39)	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,547,710 (GRCm39)	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,809,919 (GRCm39)	D235G	probably benign	Het
Wnk1	C	T	6: 119,979,241 (GRCm39)	R282Q	possibly damaging	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	T	C	15: 88,665,050 (GRCm39)	S373P	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp423	A	T	8: 88,507,140 (GRCm39)	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zfp61	T	C	7: 23,995,406 (GRCm39)	M1V	probably null	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
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
R4650:Grhl3	UTSW	4	135,276,547 (GRCm39)	splice site	probably null
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'- GAATCCCATGGCAGCCTACATC -3'
(R):5'- ACGCTTGTCAATTGAGAGGGG -3'

Sequencing Primer
(F):5'- ATGGCAGCCTACATCCTGGG -3'
(R):5'- GGGAGCAGGAGGGGAGTG -3'

Posted On

2015-03-25