Mutagenetix > Incidental Mutation

Incidental Mutation 'R0727:Grhl3'

200632

Institutional Source

Beutler Lab

Gene Symbol

Grhl3

Ensembl Gene

ENSMUSG00000037188

Gene Name

grainyhead like transcription factor 3

Synonyms

ct, Som, Get1

MMRRC Submission

038909-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R0727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135269199-135300941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135273565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 562 (K562N)

Ref Sequence

ENSEMBL: ENSMUSP00000101481 (fasta)

Gene Model

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

AlphaFold

Q5FWH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105855
AA Change: K562N

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: K562N

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

Meta Mutation Damage Score

0.1791

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

99% (70/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	T	C	5: 26,016,937 (GRCm39)	V83A	possibly damaging	Het
Adam2	A	G	14: 66,267,180 (GRCm39)	I693T	probably damaging	Het
Adamts1	T	C	16: 85,595,536 (GRCm39)	D214G	possibly damaging	Het
Atp6v1h	T	A	1: 5,154,781 (GRCm39)	Y36*	probably null	Het
Cacna1d	A	G	14: 29,852,072 (GRCm39)		probably null	Het
Catsperb	G	T	12: 101,560,614 (GRCm39)		probably null	Het
Ccdc88b	T	C	19: 6,831,582 (GRCm39)	M482V	probably benign	Het
Cemip	T	C	7: 83,610,786 (GRCm39)	K723E	probably benign	Het
Cep112	G	A	11: 108,397,380 (GRCm39)	R375H	probably damaging	Het
Cpne7	T	C	8: 123,853,025 (GRCm39)	S211P	probably damaging	Het
Csde1	A	G	3: 102,950,954 (GRCm39)	T191A	probably benign	Het
Dapk3	A	G	10: 81,026,096 (GRCm39)	Y129C	probably damaging	Het
Dlc1	A	G	8: 37,039,828 (GRCm39)	V1027A	probably damaging	Het
Ergic2	T	A	6: 148,100,898 (GRCm39)		probably benign	Het
Evpl	T	C	11: 116,123,311 (GRCm39)	H307R	probably damaging	Het
Faah	A	G	4: 115,862,257 (GRCm39)	I242T	probably damaging	Het
Farsa	T	A	8: 85,587,933 (GRCm39)		probably null	Het
Fat3	A	C	9: 15,907,995 (GRCm39)	L2669R	probably damaging	Het
Fgfr4	C	A	13: 55,304,041 (GRCm39)		probably null	Het
Gnl3	A	G	14: 30,739,034 (GRCm39)	S55P	probably damaging	Het
H2bl1	A	G	13: 99,120,735 (GRCm39)	V97A	probably benign	Het
Hoxa9	A	G	6: 52,201,294 (GRCm39)	V249A	probably damaging	Het
Hyal1	T	C	9: 107,455,601 (GRCm39)	S304P	possibly damaging	Het
Igf1r	T	C	7: 67,861,906 (GRCm39)		probably null	Het
Kif3c	A	G	12: 3,416,776 (GRCm39)	T266A	probably benign	Het
Lrp1b	T	C	2: 40,640,956 (GRCm39)	D3496G	probably benign	Het
Man2b1	T	G	8: 85,818,155 (GRCm39)	V442G	probably damaging	Het
Mast1	T	C	8: 85,648,044 (GRCm39)	Y479C	probably damaging	Het
Mei1	A	G	15: 81,954,350 (GRCm39)	T52A	probably benign	Het
Micall1	A	G	15: 79,004,978 (GRCm39)	D150G	probably benign	Het
Muc4	A	G	16: 32,590,221 (GRCm39)	M2927V	probably benign	Het
Obi1	G	C	14: 104,717,624 (GRCm39)	L250V	probably damaging	Het
Or11h6	G	T	14: 50,880,460 (GRCm39)	V241L	probably damaging	Het
Or56b1b	C	T	7: 108,164,315 (GRCm39)	R229H	probably benign	Het
Or5an10	T	C	19: 12,276,458 (GRCm39)	I13V	probably benign	Het
Or5w22	T	A	2: 87,363,245 (GRCm39)	Y289*	probably null	Het
Or8k27	T	C	2: 86,276,282 (GRCm39)	M15V	probably benign	Het
Or8k35	A	T	2: 86,424,724 (GRCm39)	Y149*	probably null	Het
Pabpc2	A	C	18: 39,908,187 (GRCm39)	Q484P	probably benign	Het
Pbld2	T	A	10: 62,903,298 (GRCm39)	V125D	probably benign	Het
Pkhd1l1	A	G	15: 44,399,184 (GRCm39)	T2083A	possibly damaging	Het
Pum2	A	G	12: 8,794,465 (GRCm39)	E785G	probably damaging	Het
Qser1	A	G	2: 104,607,656 (GRCm39)		probably benign	Het
R3hcc1l	A	G	19: 42,564,514 (GRCm39)	D29G	probably damaging	Het
Rabep1	T	A	11: 70,791,318 (GRCm39)	Y180*	probably null	Het
Rassf5	T	C	1: 131,109,002 (GRCm39)	S140G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Resf1	A	G	6: 149,227,320 (GRCm39)	N122S	possibly damaging	Het
Rfpl4	T	A	7: 5,118,292 (GRCm39)	I93L	probably benign	Het
Ryr2	C	T	13: 11,581,771 (GRCm39)	G4798D	probably damaging	Het
Scaf11	G	A	15: 96,317,324 (GRCm39)	P747S	probably damaging	Het
Sgo2b	T	G	8: 64,380,816 (GRCm39)	K672T	probably damaging	Het
Smg1	T	C	7: 117,765,645 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Ssh3	G	T	19: 4,314,019 (GRCm39)	H439Q	probably damaging	Het
Steap3	T	A	1: 120,155,547 (GRCm39)	T471S	possibly damaging	Het
Stk33	T	A	7: 108,920,725 (GRCm39)	I208L	probably damaging	Het
Sucnr1	A	G	3: 59,994,081 (GRCm39)	Y203C	probably benign	Het
Tlr11	T	C	14: 50,598,926 (GRCm39)	I304T	possibly damaging	Het
Top2a	A	T	11: 98,902,974 (GRCm39)	C404*	probably null	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Zcwpw1	T	C	5: 137,809,069 (GRCm39)		probably benign	Het
Zfhx4	A	T	3: 5,466,133 (GRCm39)	H2097L	probably damaging	Het
Zfp874b	T	C	13: 67,622,831 (GRCm39)	K156E	probably damaging	Het
Zfyve16	T	C	13: 92,630,386 (GRCm39)	K1413E	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
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
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'- CGGGTGAATGGAGGTTGCTACAATG -3'
(R):5'- AGTGGTGTTCTCCCCAGGGAAATAG -3'

Sequencing Primer
(F):5'- TTGTGAGAAGACCCTTGCAC -3'
(R):5'- CTCCCCAGGGAAATAGGATCATTG -3'

Posted On

2014-05-23