Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Vangl1'

55278

Institutional Source

Beutler Lab

Gene Symbol

Vangl1

Ensembl Gene

ENSMUSG00000027860

Gene Name

VANGL planar cell polarity 1

Synonyms

stbm, KITENIN, Lpp2, mStbm

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

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

Stock #

R0600 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102060899-102112009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102074253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 285 (Y285H)

Ref Sequence

ENSEMBL: ENSMUSP00000126254 (fasta)

Gene Model

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

AlphaFold

Q80Z96

Predicted Effect

probably damaging
Transcript: ENSMUST00000029453
AA Change: Y285H

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

SMART Domains

Protein: ENSMUSP00000029453
Gene: ENSMUSG00000027860
AA Change: Y285H

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 damaging
Transcript: ENSMUST00000159388
AA Change: Y285H

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

SMART Domains

Protein: ENSMUSP00000125043
Gene: ENSMUSG00000027860
AA Change: Y285H

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

probably benign
Transcript: ENSMUST00000161021

SMART Domains

Protein: ENSMUSP00000125484
Gene: ENSMUSG00000027860

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162361

Predicted Effect

probably damaging
Transcript: ENSMUST00000168312
AA Change: Y285H

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

SMART Domains

Protein: ENSMUSP00000126254
Gene: ENSMUSG00000027860
AA Change: Y285H

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

Meta Mutation Damage Score

0.5354

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,959,389 (GRCm39)	S150P	probably damaging	Het
5530400C23Rik	T	G	6: 133,270,174 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,591,033 (GRCm39)		probably null	Het
Ang5	T	C	14: 44,200,206 (GRCm39)	V90A	probably benign	Het
Ano9	C	T	7: 140,684,623 (GRCm39)	G442R	probably damaging	Het
Apaf1	G	A	10: 90,895,914 (GRCm39)	T386I	probably damaging	Het
Apob	C	A	12: 8,056,440 (GRCm39)	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,241,824 (GRCm39)	D791E	probably benign	Het
Avl9	T	C	6: 56,713,891 (GRCm39)	V383A	probably benign	Het
Btbd1	A	C	7: 81,465,754 (GRCm39)	D197E	probably damaging	Het
Camta2	T	C	11: 70,564,785 (GRCm39)	I938V	possibly damaging	Het
Ccn5	G	A	2: 163,667,233 (GRCm39)	C78Y	probably damaging	Het
Cdca7	C	A	2: 72,313,811 (GRCm39)	A200D	possibly damaging	Het
Cep104	A	T	4: 154,091,249 (GRCm39)	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,769,152 (GRCm39)	V601L	probably benign	Het
Ces2b	G	A	8: 105,562,542 (GRCm39)	G291S	probably benign	Het
Col6a6	C	T	9: 105,638,639 (GRCm39)	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,462,541 (GRCm39)	E1G	probably damaging	Het
Dand5	A	T	8: 85,542,921 (GRCm39)	L185Q	probably damaging	Het
Dck	T	C	5: 88,929,080 (GRCm39)	V253A	probably benign	Het
Ddx20	A	G	3: 105,586,396 (GRCm39)	S650P	probably damaging	Het
Dicer1	G	A	12: 104,673,123 (GRCm39)	P799S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eya2	G	A	2: 165,611,157 (GRCm39)	C477Y	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,290,217 (GRCm39)		probably null	Het
Gda	A	T	19: 21,411,667 (GRCm39)	F44I	possibly damaging	Het
Gli2	G	A	1: 118,768,119 (GRCm39)	R703C	probably damaging	Het
Golgb1	T	A	16: 36,736,633 (GRCm39)	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,219,651 (GRCm39)	D341G	probably damaging	Het
Grid2	G	T	6: 63,480,419 (GRCm39)	A78S	probably benign	Het
Hao2	A	T	3: 98,790,876 (GRCm39)		probably benign	Het
Hook3	A	G	8: 26,609,014 (GRCm39)	V10A	probably benign	Het
Kif20a	A	G	18: 34,762,262 (GRCm39)	E425G	probably damaging	Het
Lrp1	T	C	10: 127,403,252 (GRCm39)	D2107G	probably benign	Het
Lrriq3	T	C	3: 154,893,373 (GRCm39)	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,225,381 (GRCm39)	D17G	possibly damaging	Het
Mastl	G	T	2: 23,023,358 (GRCm39)	T455K	probably benign	Het
Mkln1	G	T	6: 31,409,862 (GRCm39)		probably benign	Het
Mmp1b	A	T	9: 7,387,947 (GRCm39)	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,634,517 (GRCm39)	A79V	probably benign	Het
Mrps35	T	A	6: 146,972,232 (GRCm39)	C292S	possibly damaging	Het
Myom1	T	C	17: 71,427,643 (GRCm39)	F1435L	possibly damaging	Het
Nars2	C	T	7: 96,689,130 (GRCm39)	H351Y	probably damaging	Het
Nat2	A	T	8: 67,953,919 (GRCm39)	I10F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm5	A	T	7: 103,803,076 (GRCm39)	Y462*	probably null	Het
Or13p5	C	T	4: 118,591,986 (GRCm39)	H87Y	probably damaging	Het
Or1j12	C	A	2: 36,342,660 (GRCm39)	A21E	probably benign	Het
Or2w3	C	A	11: 58,556,986 (GRCm39)	F200L	probably damaging	Het
Or4c122	C	A	2: 89,079,742 (GRCm39)	E87*	probably null	Het
Or4e1	T	C	14: 52,700,966 (GRCm39)	I167V	probably benign	Het
Or5p70	T	A	7: 107,994,438 (GRCm39)	I37N	probably damaging	Het
Or7g35	T	C	9: 19,496,600 (GRCm39)	S256P	possibly damaging	Het
Or8d2b	T	A	9: 38,789,111 (GRCm39)	I213N	probably damaging	Het
Or8g20	A	T	9: 39,396,284 (GRCm39)	F85L	probably benign	Het
Otog	A	T	7: 45,900,819 (GRCm39)		probably benign	Het
Pdcd2l	A	T	7: 33,892,232 (GRCm39)	D212E	possibly damaging	Het
Pex5	T	C	6: 124,381,596 (GRCm39)	N213S	probably benign	Het
Pkn3	C	T	2: 29,971,146 (GRCm39)	P238S	probably benign	Het
Pramel32	A	T	4: 88,547,536 (GRCm39)	I45K	probably damaging	Het
Prl2b1	A	T	13: 27,574,723 (GRCm39)		probably null	Het
Ptprb	A	T	10: 116,204,712 (GRCm39)	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,612,500 (GRCm39)	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,532,177 (GRCm39)	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,515,064 (GRCm39)	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,844,565 (GRCm39)	S436P	probably damaging	Het
Slc27a1	C	T	8: 72,036,808 (GRCm39)	P348L	probably damaging	Het
Slc28a2b	A	T	2: 122,344,879 (GRCm39)	I162F	probably damaging	Het
Smg1	G	A	7: 117,759,606 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,955,196 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,626,957 (GRCm39)	H112Q	probably damaging	Het
Tasor2	A	T	13: 3,626,054 (GRCm39)	F1299I	probably benign	Het
Tet2	A	G	3: 133,173,363 (GRCm39)	M1633T	probably benign	Het
Tet2	T	A	3: 133,173,486 (GRCm39)	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667 (GRCm39)	C8S	probably damaging	Het
Tnrc6a	T	A	7: 122,771,039 (GRCm39)	I943N	probably benign	Het
Trib2	A	T	12: 15,844,069 (GRCm39)	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,760,917 (GRCm39)	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,069,914 (GRCm39)	R250G	probably damaging	Het
Ubr2	T	C	17: 47,278,174 (GRCm39)	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,320,660 (GRCm39)	I63F	probably damaging	Het
Ush1c	G	A	7: 45,874,332 (GRCm39)	P171S	probably benign	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Virma	A	G	4: 11,498,769 (GRCm39)	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,898,277 (GRCm39)	F431L	probably benign	Het
Wdr17	A	G	8: 55,114,530 (GRCm39)	I662T	probably damaging	Het
Wdr87-ps	T	A	7: 29,232,690 (GRCm39)		noncoding transcript	Het
Zfp160	G	A	17: 21,247,268 (GRCm39)	R606H	probably benign	Het
Zfp369	C	T	13: 65,444,248 (GRCm39)	R464C	probably damaging	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
IGL02792:Vangl1	APN	3	102,070,739 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- GCATCGCAGTCTTTTGGTAAACAGC -3'
(R):5'- GAGTGTAGGAGCCAGCAGACTTTC -3'

Sequencing Primer
(F):5'- TCTAAAGTGTTCCCAGCAGG -3'
(R):5'- CCTGGGAGGGCTACCTTG -3'

Posted On

2013-07-11