Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Vangl1'

359802

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vangl1

Ensembl Gene

ENSMUSG00000027860

Gene Name

VANGL planar cell polarity 1

Synonyms

stbm, KITENIN, Lpp2, mStbm

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

102060899-102112009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102070739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 399 (I399N)

Ref Sequence

ENSEMBL: ENSMUSP00000029453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029453] [ENSMUST00000159388] [ENSMUST00000168312]

AlphaFold

Q80Z96

Predicted Effect

probably damaging
Transcript: ENSMUST00000029453
AA Change: I399N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029453
Gene: ENSMUSG00000027860
AA Change: I399N

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:Strabismus	23	360	3.4e-171	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159388

SMART Domains

Protein: ENSMUSP00000125043
Gene: ENSMUSG00000027860

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:Strabismus	25	526	8.6e-262	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160226

Predicted Effect

unknown
Transcript: ENSMUST00000161021
AA Change: I125N

SMART Domains

Protein: ENSMUSP00000125484
Gene: ENSMUSG00000027860
AA Change: I125N

Domain	Start	End	E-Value	Type
Pfam:Strabismus	1	253	3.2e-118	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162361

Predicted Effect

probably benign
Transcript: ENSMUST00000168312

SMART Domains

Protein: ENSMUSP00000126254
Gene: ENSMUSG00000027860

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:Strabismus	23	357	1.2e-170	PFAM
Pfam:Strabismus	354	476	9.5e-67	PFAM

Coding Region Coverage

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 tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,401,107 (GRCm39)	V131M	probably benign	Het
Abca6	A	T	11: 110,079,507 (GRCm39)	C1216S	probably damaging	Het
Acly	T	C	11: 100,369,236 (GRCm39)	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,282,163 (GRCm39)		probably null	Het
Adgrb1	C	A	15: 74,419,471 (GRCm39)	L771I	probably damaging	Het
Adh7	A	T	3: 137,929,498 (GRCm39)	K89I	probably damaging	Het
Adora2b	A	T	11: 62,156,309 (GRCm39)	I253F	possibly damaging	Het
Akna	G	A	4: 63,295,943 (GRCm39)	P975S	possibly damaging	Het
Alg9	T	C	9: 50,754,048 (GRCm39)	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,761,218 (GRCm39)	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,563,058 (GRCm39)	S908T	probably benign	Het
Atp1a4	C	T	1: 172,054,866 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,582,573 (GRCm39)	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,265,995 (GRCm39)	F1312L	probably benign	Het
Cfap65	A	C	1: 74,966,337 (GRCm39)	F330C	probably damaging	Het
Col27a1	C	T	4: 63,233,820 (GRCm39)	P689S	unknown	Het
Col4a3	A	T	1: 82,696,524 (GRCm39)	K1643N	probably damaging	Het
Dop1b	T	A	16: 93,598,460 (GRCm39)	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,761,082 (GRCm39)		probably benign	Het
Ergic3	C	A	2: 155,859,770 (GRCm39)	T357K	probably damaging	Het
Glra1	A	T	11: 55,427,226 (GRCm39)	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,001,018 (GRCm39)	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,236,602 (GRCm39)	S382P	probably damaging	Het
Kat6a	G	A	8: 23,428,316 (GRCm39)	E1224K	probably damaging	Het
Klk13	A	G	7: 43,370,838 (GRCm39)	E29G	possibly damaging	Het
Klra9	T	C	6: 130,165,643 (GRCm39)	D124G	probably benign	Het
Lrmda	T	C	14: 22,069,978 (GRCm39)		probably null	Het
Ltbp1	G	A	17: 75,589,989 (GRCm39)	V539M	probably damaging	Het
Ngfr	A	C	11: 95,462,687 (GRCm39)	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,502,348 (GRCm39)	H151Q	probably damaging	Het
Nnt	A	G	13: 119,494,182 (GRCm39)	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,686,535 (GRCm39)	V158M	probably damaging	Het
Or11i1	T	C	3: 106,729,456 (GRCm39)	T140A	probably damaging	Het
Or2d36	T	C	7: 106,747,425 (GRCm39)	F301L	probably benign	Het
Or7g16	C	T	9: 18,727,254 (GRCm39)	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,133,850 (GRCm39)	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,172,393 (GRCm39)	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,636,938 (GRCm39)	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,722 (GRCm39)	V73A	probably damaging	Het
Relb	A	T	7: 19,347,789 (GRCm39)	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,383,018 (GRCm39)	L382*	probably null	Het
Setd1a	C	T	7: 127,390,522 (GRCm39)	S523F	unknown	Het
Slamf8	A	G	1: 172,415,697 (GRCm39)	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,206,193 (GRCm39)	A88T	probably benign	Het
Sox6	C	T	7: 115,140,884 (GRCm39)	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,512,165 (GRCm39)	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,935,918 (GRCm39)	D1710A	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vmn1r201	T	C	13: 22,659,014 (GRCm39)	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,414,228 (GRCm39)	M1V	probably null	Het
Wdfy4	T	C	14: 32,817,262 (GRCm39)	I1561V	probably benign	Het
Xkr9	A	G	1: 13,771,027 (GRCm39)	D181G	probably damaging	Het
Zfp318	T	C	17: 46,720,104 (GRCm39)	F1101L	probably damaging	Het
Zfpm2	C	A	15: 40,966,409 (GRCm39)	Q833K	probably benign	Het

Other mutations in Vangl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Vangl1	APN	3	102,065,545 (GRCm39)	utr 3 prime	probably benign
IGL00870:Vangl1	APN	3	102,096,756 (GRCm39)	missense	probably damaging	1.00
IGL01533:Vangl1	APN	3	102,070,667 (GRCm39)	missense	possibly damaging	0.88
IGL01981:Vangl1	APN	3	102,091,607 (GRCm39)	missense	probably damaging	1.00
IGL02800:Vangl1	APN	3	102,070,611 (GRCm39)	splice site	probably benign
IGL02942:Vangl1	APN	3	102,091,347 (GRCm39)	missense	probably damaging	1.00
IGL03029:Vangl1	APN	3	102,091,400 (GRCm39)	missense	probably damaging	1.00
R0600:Vangl1	UTSW	3	102,074,253 (GRCm39)	missense	probably damaging	1.00
R0904:Vangl1	UTSW	3	102,091,310 (GRCm39)	missense	probably damaging	0.99
R1230:Vangl1	UTSW	3	102,065,609 (GRCm39)	missense	probably benign	0.00
R1829:Vangl1	UTSW	3	102,070,782 (GRCm39)	missense	probably benign
R2005:Vangl1	UTSW	3	102,070,782 (GRCm39)	missense	probably benign
R2268:Vangl1	UTSW	3	102,104,160 (GRCm39)	missense	probably damaging	1.00
R4181:Vangl1	UTSW	3	102,073,097 (GRCm39)	intron	probably benign
R4662:Vangl1	UTSW	3	102,074,238 (GRCm39)	missense	probably benign	0.00
R4724:Vangl1	UTSW	3	102,091,870 (GRCm39)	missense	probably damaging	1.00
R4755:Vangl1	UTSW	3	102,065,608 (GRCm39)	missense	probably benign	0.19
R5548:Vangl1	UTSW	3	102,091,762 (GRCm39)	missense	possibly damaging	0.76
R5740:Vangl1	UTSW	3	102,091,450 (GRCm39)	missense	probably damaging	0.99
R5758:Vangl1	UTSW	3	102,091,408 (GRCm39)	missense	probably damaging	1.00
R6150:Vangl1	UTSW	3	102,091,835 (GRCm39)	missense	probably damaging	1.00
R6373:Vangl1	UTSW	3	102,065,764 (GRCm39)	missense	probably benign
R6943:Vangl1	UTSW	3	102,073,097 (GRCm39)	intron	probably benign
R7474:Vangl1	UTSW	3	102,091,565 (GRCm39)	missense	probably benign	0.22
R7616:Vangl1	UTSW	3	102,091,381 (GRCm39)	missense	probably damaging	1.00
R8120:Vangl1	UTSW	3	102,070,758 (GRCm39)	nonsense	probably null
R8827:Vangl1	UTSW	3	102,070,736 (GRCm39)	missense	probably damaging	0.99
R8859:Vangl1	UTSW	3	102,065,758 (GRCm39)	missense
R9494:Vangl1	UTSW	3	102,070,665 (GRCm39)	missense	probably damaging	0.98
R9745:Vangl1	UTSW	3	102,072,669 (GRCm39)	critical splice donor site	probably null

Posted On

2015-12-18