Mutagenetix > Incidental Mutation

Incidental Mutation 'R7797:Grhl3'

600269

Institutional Source

Beutler Lab

Gene Symbol

Grhl3

Ensembl Gene

ENSMUSG00000037188

Gene Name

grainyhead like transcription factor 3

Synonyms

ct, Som, Get1

MMRRC Submission

045853-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R7797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135269199-135300941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 135286416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 88 (K88N)

Ref Sequence

ENSEMBL: ENSMUSP00000101481 (fasta)

Gene Model

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

AlphaFold

Q5FWH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105855
AA Change: K88N

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: K88N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (68/68)

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
Abca8b	A	G	11: 109,862,509 (GRCm39)		probably null	Het
Adam3	T	G	8: 25,184,660 (GRCm39)	N535T	probably damaging	Het
Adam34l	T	A	8: 44,079,411 (GRCm39)	E271V	probably benign	Het
Adamts4	A	G	1: 171,085,387 (GRCm39)	K679E	probably damaging	Het
Arnt	G	A	3: 95,387,572 (GRCm39)		probably null	Het
Asah2	A	G	19: 31,999,761 (GRCm39)	F321L	probably damaging	Het
Asb15	T	C	6: 24,562,505 (GRCm39)	S156P	probably damaging	Het
Baiap2l1	A	C	5: 144,255,760 (GRCm39)	S65A	probably damaging	Het
Bend7	T	G	2: 4,754,455 (GRCm39)	M186R	probably damaging	Het
Blnk	T	C	19: 40,948,232 (GRCm39)	K146E	possibly damaging	Het
Cd19	A	G	7: 126,012,680 (GRCm39)	W238R	probably damaging	Het
Cd44	T	A	2: 102,679,079 (GRCm39)	N241I	probably benign	Het
Cdh23	T	C	10: 60,220,973 (GRCm39)	E1257G	probably benign	Het
Cfap300	G	T	9: 8,027,130 (GRCm39)	P136Q	possibly damaging	Het
Cntnap5c	T	C	17: 58,666,270 (GRCm39)	V1100A	probably benign	Het
Cul7	T	C	17: 46,969,568 (GRCm39)	V945A	possibly damaging	Het
Dock2	C	T	11: 34,232,652 (GRCm39)	C1116Y	probably damaging	Het
Ehbp1	T	C	11: 22,046,109 (GRCm39)	M547V	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Hbb-y	T	A	7: 103,501,088 (GRCm39)	Y146F	probably damaging	Het
Hivep2	T	C	10: 14,005,847 (GRCm39)	V815A	probably benign	Het
Hoxa7	T	A	6: 52,192,870 (GRCm39)	I173F	probably damaging	Het
Igkv1-110	T	G	6: 68,247,977 (GRCm39)	S29A	probably benign	Het
Jade2	A	G	11: 51,708,126 (GRCm39)	S696P	probably benign	Het
Kif1b	T	A	4: 149,321,844 (GRCm39)	Q1025L	probably benign	Het
Kif2c	A	T	4: 117,028,940 (GRCm39)	C241S	probably benign	Het
Kmt2d	G	T	15: 98,762,287 (GRCm39)	H400N	probably benign	Het
Krt35	T	A	11: 99,985,713 (GRCm39)	N174Y	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Magi3	A	G	3: 103,958,618 (GRCm39)	V489A	probably damaging	Het
Mapk7	T	C	11: 61,380,241 (GRCm39)	E739G	possibly damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mdga1	C	T	17: 30,061,814 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,022 (GRCm39)	R607H	probably damaging	Het
Met	T	A	6: 17,533,952 (GRCm39)	N634K	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mmp11	G	T	10: 75,759,314 (GRCm39)	T107K		Het
Mroh2b	A	C	15: 4,978,587 (GRCm39)	N1378H	probably benign	Het
Naa15	G	A	3: 51,356,031 (GRCm39)	C322Y	probably damaging	Het
Naip1	T	A	13: 100,580,986 (GRCm39)	Y87F	probably damaging	Het
Ngrn	A	G	7: 79,914,185 (GRCm39)	D112G	probably benign	Het
Osbpl1a	C	A	18: 13,015,321 (GRCm39)	C369F	probably damaging	Het
Pcnx2	G	C	8: 126,512,087 (GRCm39)	D1406E	possibly damaging	Het
Phf8-ps	T	C	17: 33,286,664 (GRCm39)	D46G	probably damaging	Het
Pold1	G	A	7: 44,191,213 (GRCm39)	P206L	probably benign	Het
Psen1	A	G	12: 83,746,396 (GRCm39)	S20G	probably benign	Het
Ptpn23	C	T	9: 110,222,875 (GRCm39)	D61N	possibly damaging	Het
Rbfox3	A	T	11: 118,387,310 (GRCm39)	L268Q	possibly damaging	Het
Rbm22	A	G	18: 60,694,344 (GRCm39)	T26A	probably damaging	Het
Rpgrip1	G	A	14: 52,371,277 (GRCm39)	R332Q	possibly damaging	Het
Rrm2b	A	T	15: 37,927,505 (GRCm39)	L347*	probably null	Het
Rsf1	A	T	7: 97,310,692 (GRCm39)	D474V		Het
Ryr2	C	T	13: 11,816,066 (GRCm39)	R640Q	probably damaging	Het
Sec16b	A	G	1: 157,389,245 (GRCm39)	E691G	unknown	Het
Septin1	A	T	7: 126,813,937 (GRCm39)	V365E	unknown	Het
Tlk2	A	G	11: 105,101,444 (GRCm39)	H114R	probably benign	Het
Tmem200a	A	G	10: 25,869,864 (GRCm39)	I135T	possibly damaging	Het
Tpst2	T	A	5: 112,455,782 (GRCm39)	V107E	probably damaging	Het
Trim30a	A	T	7: 104,060,407 (GRCm39)	D456E	possibly damaging	Het
Ttll3	T	C	6: 113,371,738 (GRCm39)	V45A	possibly damaging	Het
Ulk2	A	G	11: 61,672,928 (GRCm39)	Y889H	probably benign	Het
Umodl1	A	G	17: 31,178,125 (GRCm39)	S34G	probably benign	Het
Vmn1r67	A	G	7: 10,180,903 (GRCm39)	I56V	probably benign	Het
Vmn2r120	C	T	17: 57,815,874 (GRCm39)	G827E	probably damaging	Het
Zc3h6	T	C	2: 128,857,555 (GRCm39)		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
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
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'- CTGGCTGTTCTGAAACCTCC -3'
(R):5'- TTTCTCCCAAGCGTTCCAGG -3'

Sequencing Primer
(F):5'- GAAACCTCCCCATTGCACCTATTG -3'
(R):5'- AAGCGTTCCAGGGCCTG -3'

Posted On

2019-11-26