Mutagenetix > Incidental Mutations

Incidental Mutation 'R4697:Grhl3'

355760

Institutional Source

Beutler Lab

Gene Symbol

Grhl3

Ensembl Gene

ENSMUSG00000037188

Gene Name

grainyhead like transcription factor 3

Synonyms

Som, ct, Get1

MMRRC Submission

041947-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135541888-135573630 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135548466 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 527 (V527M)

Ref Sequence

ENSEMBL: ENSMUSP00000101481 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105855
AA Change: V527M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: V527M

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

Meta Mutation Damage Score

0.2534

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,791,448	I455N	probably damaging	Het
A2m	T	C	6: 121,638,284	M1T	probably null	Het
Aatf	T	A	11: 84,449,138	D449V	probably damaging	Het
Acbd3	T	A	1: 180,721,944		probably benign	Het
BC005561	A	G	5: 104,522,240	K1543E	probably benign	Het
Bicc1	T	A	10: 70,953,484	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,649,749	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,525,485	V401A	probably damaging	Het
Cux2	T	C	5: 121,873,753	T540A	probably damaging	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dpp7	A	G	2: 25,354,919	Y209H	probably benign	Het
Dstyk	T	A	1: 132,449,487	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,694,408		probably null	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Ednra	T	C	8: 77,664,995	H422R	probably benign	Het
Erlec1	T	A	11: 30,952,640	I67F	probably benign	Het
Fam161b	G	A	12: 84,348,558		probably benign	Het
Gata5	A	T	2: 180,327,379	C345*	probably null	Het
Glmp	T	C	3: 88,328,274	V47A	probably damaging	Het
Gm9762	T	A	3: 78,966,550		noncoding transcript	Het
Gnas	A	T	2: 174,298,080	D14V	probably damaging	Het
Gnl3	T	C	14: 31,017,329	S53G	probably damaging	Het
Hoxd10	T	A	2: 74,694,187	L281*	probably null	Het
Kif16b	T	G	2: 142,690,694	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,576,846	S204P	probably benign	Het
Klhl40	T	A	9: 121,778,734	I320N	probably damaging	Het
Ksr2	G	A	5: 117,708,147	R693Q	probably damaging	Het
Mis12	A	G	11: 71,025,326	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,974,777	C102R	probably damaging	Het
Muc5b	T	C	7: 141,857,361	I1348T	unknown	Het
Myh7b	A	G	2: 155,629,322	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,901,386	T52A	probably benign	Het
Nxpe2	C	A	9: 48,320,521	V379L	probably benign	Het
Olfr1231	C	A	2: 89,302,902	S230I	possibly damaging	Het
Olfr1231	T	A	2: 89,302,903	S230C	probably damaging	Het
Olfr1448	C	T	19: 12,919,934	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,313,717	D189E	probably benign	Het
Olfr288	G	A	15: 98,186,868	R310W	probably damaging	Het
Pcdhga7	A	T	18: 37,717,208	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,959,241	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,126,347	V1367A	possibly damaging	Het
Postn	T	A	3: 54,375,071	N484K	probably damaging	Het
Prkd3	C	T	17: 78,961,171	V572I	probably benign	Het
Qser1	T	C	2: 104,787,183	S1005G	probably benign	Het
Radil	G	T	5: 142,486,801	D951E	probably benign	Het
Ripk1	C	T	13: 34,027,942	R352*	probably null	Het
Sacs	T	C	14: 61,212,747	F4081L	probably benign	Het
Sbf1	A	G	15: 89,315,085	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,934,587	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,638,284	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,052,641	P71L	probably benign	Het
Spns1	T	A	7: 126,377,037	D14V	probably damaging	Het
Sv2c	T	A	13: 95,986,018	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,893,516	M169K	probably benign	Het
Tgm1	A	T	14: 55,705,681	N567K	probably benign	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,853,791	V1340A	probably benign	Het
Tspan18	A	T	2: 93,312,030		probably null	Het
Txndc11	C	T	16: 11,084,314	V679I	probably damaging	Het
Usf1	G	T	1: 171,416,964	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,454,452	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,826	I713F	probably damaging	Het
Vmn2r79	A	T	7: 87,037,960	I850F	probably damaging	Het
Wdr90	C	T	17: 25,855,363	R676H	probably benign	Het
Zfp867	G	A	11: 59,463,661	R281W	probably damaging	Het
Zfp939	T	C	7: 39,472,942		noncoding transcript	Het

Other mutations in Grhl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02638:Grhl3	APN	4	135556865	missense	probably benign	0.00
IGL02868:Grhl3	APN	4	135554604	missense	probably damaging	1.00
Bite-size	UTSW	4	135557433	missense	possibly damaging	0.46
hammerkop	UTSW	4	135546246	missense	probably damaging	1.00
hoopoe	UTSW	4	135559146	missense	probably benign	0.00
R0121:Grhl3	UTSW	4	135552549	missense	probably damaging	0.97
R0180:Grhl3	UTSW	4	135554530	missense	probably benign	0.00
R0627:Grhl3	UTSW	4	135552681	missense	probably benign	0.18
R0727:Grhl3	UTSW	4	135546254	missense	possibly damaging	0.90
R1248:Grhl3	UTSW	4	135561306	missense	probably benign	0.01
R1664:Grhl3	UTSW	4	135552550	missense	probably benign	0.11
R2910:Grhl3	UTSW	4	135559146	missense	probably benign	0.00
R2911:Grhl3	UTSW	4	135559146	missense	probably benign	0.00
R3773:Grhl3	UTSW	4	135555847	nonsense	probably null
R4033:Grhl3	UTSW	4	135573424	start codon destroyed	probably benign
R4521:Grhl3	UTSW	4	135546250	missense	probably damaging	1.00
R4576:Grhl3	UTSW	4	135561251	missense	probably damaging	1.00
R4650:Grhl3	UTSW	4	135549236	splice site	probably null
R4919:Grhl3	UTSW	4	135559104	nonsense	probably null
R4920:Grhl3	UTSW	4	135559104	nonsense	probably null
R4961:Grhl3	UTSW	4	135552607	missense	probably damaging	1.00
R5100:Grhl3	UTSW	4	135542675	missense	probably benign
R5180:Grhl3	UTSW	4	135559104	nonsense	probably null
R5181:Grhl3	UTSW	4	135559104	nonsense	probably null
R5325:Grhl3	UTSW	4	135559104	nonsense	probably null
R6429:Grhl3	UTSW	4	135557196	missense	probably damaging	0.99
R6459:Grhl3	UTSW	4	135557433	missense	possibly damaging	0.46
R7047:Grhl3	UTSW	4	135549240	splice site	probably null
R7073:Grhl3	UTSW	4	135573412	missense	probably benign	0.00
R7345:Grhl3	UTSW	4	135546246	missense	probably damaging	1.00
R7797:Grhl3	UTSW	4	135559105	missense	possibly damaging	0.93
R7829:Grhl3	UTSW	4	135561221	missense	probably damaging	0.98
R8023:Grhl3	UTSW	4	135550329	missense	probably benign
Z1177:Grhl3	UTSW	4	135552686	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GAAACAGGTTTGCAAAGCCAAC -3'
(R):5'- TCAAACTCCGGCAAAGCAGG -3'

Sequencing Primer
(F):5'- TGACTCTCAGGGTGGAGCAG -3'
(R):5'- GCAAAGCAGGGCAGTTTG -3'

Posted On

2015-10-21