Mutagenetix > Incidental Mutation

Incidental Mutation 'R9745:Vangl1'

732021

Institutional Source

Beutler Lab

Gene Symbol

Vangl1

Ensembl Gene

ENSMUSG00000027860

Gene Name

VANGL planar cell polarity 1

Synonyms

stbm, KITENIN, Lpp2, mStbm

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9745 (G1)

Quality Score

188.009

Status

Not validated

Chromosome

Chromosomal Location

102060899-102112009 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 102072669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029453 (fasta)

Gene Model

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

AlphaFold

Q80Z96

Predicted Effect

probably null
Transcript: ENSMUST00000029453

SMART Domains

Protein: ENSMUSP00000029453
Gene: ENSMUSG00000027860

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

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

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

1x: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	A	10: 126,919,380 (GRCm39)	H488Q	unknown	Het
Ces1b	T	C	8: 93,790,625 (GRCm39)	D388G	probably benign	Het
Ces1f	T	C	8: 93,989,740 (GRCm39)	D392G	probably benign	Het
Ces5a	A	G	8: 94,228,814 (GRCm39)	V472A	probably damaging	Het
Chst1	A	G	2: 92,444,047 (GRCm39)	D173G	possibly damaging	Het
Cngb1	T	G	8: 95,967,919 (GRCm39)	E1294A	unknown	Het
Cnmd	T	C	14: 79,887,850 (GRCm39)	I124V	possibly damaging	Het
Cntnap2	A	T	6: 46,211,100 (GRCm39)	M505L	probably benign	Het
Cntnap4	T	A	8: 113,391,808 (GRCm39)	M91K	possibly damaging	Het
Cstad	A	G	2: 30,498,197 (GRCm39)	T11A	unknown	Het
Cyp2j6	A	T	4: 96,441,621 (GRCm39)	V23E	possibly damaging	Het
Dapk3	C	A	10: 81,028,594 (GRCm39)	T388K	unknown	Het
Dennd6a	G	A	14: 26,320,818 (GRCm39)	G120R	possibly damaging	Het
Disp1	A	C	1: 182,869,310 (GRCm39)	S1037A	probably damaging	Het
Dpcd	A	T	19: 45,560,881 (GRCm39)	Q103L	probably benign	Het
Egfem1	A	T	3: 29,716,532 (GRCm39)	D334V	probably damaging	Het
Egflam	C	T	15: 7,333,419 (GRCm39)	V178M	probably benign	Het
Ehbp1	T	C	11: 22,096,692 (GRCm39)	T291A	probably benign	Het
Eif5b	G	T	1: 38,084,729 (GRCm39)	V859F	probably damaging	Het
Fam161a	A	T	11: 22,973,495 (GRCm39)	Q459L	possibly damaging	Het
Fcgrt	A	C	7: 44,742,754 (GRCm39)	D342E	probably damaging	Het
Fchsd1	A	C	18: 38,102,425 (GRCm39)	D34E	probably benign	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Galt	A	T	4: 41,758,185 (GRCm39)	M317L	possibly damaging	Het
Gfm1	A	G	3: 67,358,657 (GRCm39)	D416G	possibly damaging	Het
Glcci1	A	T	6: 8,573,278 (GRCm39)	I256L	probably benign	Het
Ibtk	C	T	9: 85,613,280 (GRCm39)	G228S	probably benign	Het
Ift70b	T	C	2: 75,768,261 (GRCm39)	Y164C	probably benign	Het
Il2rb	T	A	15: 78,372,399 (GRCm39)	D106V	probably benign	Het
Map3k6	A	T	4: 132,979,783 (GRCm39)	I1261F	probably damaging	Het
Mast2	A	G	4: 116,167,815 (GRCm39)	L1014P	probably benign	Het
Mcm2	G	A	6: 88,868,729 (GRCm39)	Q343*	probably null	Het
Megf8	A	G	7: 25,058,133 (GRCm39)	T2136A	possibly damaging	Het
Mmp28	G	A	11: 83,342,283 (GRCm39)	T103I	probably benign	Het
Mtif2	G	A	11: 29,476,587 (GRCm39)		probably benign	Het
Mtus2	A	T	5: 148,013,311 (GRCm39)	T35S	possibly damaging	Het
Ncoa2	A	T	1: 13,245,192 (GRCm39)	I502N	probably benign	Het
Nek5	A	C	8: 22,573,479 (GRCm39)	D492E	probably benign	Het
Nin	T	C	12: 70,089,899 (GRCm39)	E1172G		Het
Nsmaf	T	A	4: 6,416,662 (GRCm39)	I544F	possibly damaging	Het
Oas3	T	C	5: 120,899,284 (GRCm39)	D763G	unknown	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or4s2	T	A	2: 88,473,310 (GRCm39)	F66L	probably benign	Het
Or51r1	A	T	7: 102,227,861 (GRCm39)	D53V	probably damaging	Het
Or5al6	C	T	2: 85,976,251 (GRCm39)	V276M	probably damaging	Het
Or5aq1	T	A	2: 86,965,783 (GRCm39)	N294I	probably damaging	Het
Or5k15	A	T	16: 58,710,265 (GRCm39)	L106Q	probably damaging	Het
Or5t17	T	C	2: 86,832,487 (GRCm39)	V58A	probably benign	Het
Pcdh7	T	C	5: 57,879,622 (GRCm39)		probably null	Het
Pitx3	A	G	19: 46,124,660 (GRCm39)	S236P	possibly damaging	Het
Plscr5	T	A	9: 92,087,502 (GRCm39)	I157N	probably damaging	Het
Potefam1	T	C	2: 111,000,008 (GRCm39)	M201V	unknown	Het
Preb	T	C	5: 31,116,732 (GRCm39)	N54D	probably benign	Het
Pskh1	C	T	8: 106,656,404 (GRCm39)	A360V	possibly damaging	Het
Ptprk	T	C	10: 28,139,608 (GRCm39)	L111S	possibly damaging	Het
Reln	T	A	5: 22,152,525 (GRCm39)	I2314F	probably damaging	Het
Siglecg	A	G	7: 43,067,476 (GRCm39)	D681G	probably damaging	Het
Snx5	A	G	2: 144,096,716 (GRCm39)	V283A	probably benign	Het
Srpk2	C	A	5: 23,880,874 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,469,619 (GRCm39)	Y168H	possibly damaging	Het
Tal1	G	T	4: 114,920,557 (GRCm39)	R77L	probably benign	Het
Tdrd12	T	C	7: 35,185,964 (GRCm39)		probably null	Het
Tdrd7	A	T	4: 45,994,310 (GRCm39)	N236I	possibly damaging	Het
Tdrd9	T	C	12: 112,009,130 (GRCm39)	F1012S	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tert	T	A	13: 73,784,609 (GRCm39)	L685Q	probably damaging	Het
Th	T	G	7: 142,448,851 (GRCm39)	D342A	probably damaging	Het
Tpsg1	G	T	17: 25,591,492 (GRCm39)	V31L	probably damaging	Het
Traf3ip1	C	G	1: 91,439,095 (GRCm39)	S337*	probably null	Het
Trpv6	A	G	6: 41,600,003 (GRCm39)	F551S	probably damaging	Het
Urah	A	G	7: 140,415,531 (GRCm39)	N23D	probably benign	Het
Zc3h6	A	G	2: 128,859,155 (GRCm39)	E1062G	probably benign	Het
Zfp37	A	T	4: 62,110,644 (GRCm39)	V181E	possibly damaging	Het
Zfp638	T	A	6: 83,921,795 (GRCm39)	S641T	probably benign	Het
Zkscan16	A	T	4: 58,957,473 (GRCm39)	H585L	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TAAGCCTTGTAAGTGGGCCC -3'
(R):5'- TGGCGTTTACCGTTAAAGCTATC -3'

Sequencing Primer
(F):5'- TTGTAAGTGGGCCCAGGAC -3'
(R):5'- ACCGTTAAAGCTATCTACCTTTCTC -3'

Posted On

2022-11-14