Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01543:Vasn'

90215

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vasn

Ensembl Gene

ENSMUSG00000039646

Gene Name

vasorin

Synonyms

ATIA, Slitl2, 2610528G05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

IGL01543

Quality Score

Status

Chromosome

Chromosomal Location

4457805-4468666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4467756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 568 (T568A)

Ref Sequence

ENSEMBL: ENSMUSP00000045162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038552] [ENSMUST00000038770] [ENSMUST00000090480] [ENSMUST00000135823]

AlphaFold

Q9CZT5

Predicted Effect

probably benign
Transcript: ENSMUST00000038552

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637

Domain	Start	End	E-Value	Type
DUF1899	3	64	6.41e-15	SMART
WD40	66	106	1.83e-7	SMART
WD40	115	154	4.13e0	SMART
WD40	157	196	1.78e-5	SMART
DUF1900	251	385	4.49e-60	SMART
low complexity region	427	456	N/A	INTRINSIC
DUF1899	463	528	1.2e-19	SMART
WD40	531	570	3.64e-2	SMART
WD40	580	620	8.55e-8	SMART
WD40	623	662	1.16e-9	SMART
low complexity region	667	679	N/A	INTRINSIC
DUF1900	718	854	6.69e-68	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038770
AA Change: T568A

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045162
Gene: ENSMUSG00000039646
AA Change: T568A

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
LRRNT	24	57	4.05e-5	SMART
LRR_TYP	76	99	8.15e-6	SMART
LRR_TYP	100	123	6.23e-2	SMART
LRR_TYP	124	147	6.42e-4	SMART
LRR	169	192	1.99e0	SMART
low complexity region	197	206	N/A	INTRINSIC
LRR	216	238	6.22e0	SMART
LRR	239	263	1.16e2	SMART
LRR	264	287	1.15e1	SMART
LRRCT	299	351	2.03e-11	SMART
EGF	409	443	2.79e-4	SMART
FN3	460	544	2.72e-3	SMART
transmembrane domain	578	600	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090480

SMART Domains

Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637

Domain	Start	End	E-Value	Type
DUF1899	3	64	6.41e-15	SMART
WD40	66	106	1.83e-7	SMART
WD40	115	154	4.13e0	SMART
WD40	157	196	1.78e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130125

Predicted Effect

probably benign
Transcript: ENSMUST00000135823

SMART Domains

Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637

Domain	Start	End	E-Value	Type
DUF1899	3	64	6.41e-15	SMART
WD40	66	106	1.83e-7	SMART
WD40	115	154	4.13e0	SMART
WD40	157	196	1.78e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144815

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit increased sensitivity to TNFalpha-induced lethality, TNFalpha-, cycloheximide-, or CoCl2-induced cell death, and reduced male fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	T	C	3: 59,932,097 (GRCm39)	I204T	probably benign	Het
Abhd16a	T	C	17: 35,310,013 (GRCm39)	S69P	probably damaging	Het
Ampd1	C	T	3: 103,003,029 (GRCm39)	T582I	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Arid1a	A	T	4: 133,409,033 (GRCm39)	F1825I	unknown	Het
Asxl1	G	A	2: 153,243,404 (GRCm39)	G1318D	probably benign	Het
B4galnt3	G	A	6: 120,186,273 (GRCm39)	H807Y	probably benign	Het
Bpifb5	G	T	2: 154,075,169 (GRCm39)	V366F	possibly damaging	Het
Caskin1	T	C	17: 24,723,522 (GRCm39)	V770A	probably benign	Het
Ccdc152	G	A	15: 3,327,606 (GRCm39)	T57I	possibly damaging	Het
Ccs	T	C	19: 4,884,269 (GRCm39)	E61G	possibly damaging	Het
Chsy3	G	A	18: 59,543,472 (GRCm39)	W870*	probably null	Het
Col8a1	G	A	16: 57,448,097 (GRCm39)	P471L	unknown	Het
Cyp2j6	A	C	4: 96,414,161 (GRCm39)	V368G	possibly damaging	Het
Dnajc3	T	C	14: 119,198,274 (GRCm39)		probably null	Het
Dpep3	A	T	8: 106,702,814 (GRCm39)	M316K	probably damaging	Het
Galntl5	A	G	5: 25,400,349 (GRCm39)	E126G	probably damaging	Het
Gli1	T	C	10: 127,168,347 (GRCm39)	N502S	probably damaging	Het
Hus1	A	G	11: 8,950,082 (GRCm39)	L213P	probably benign	Het
Hypk	A	G	2: 121,287,776 (GRCm39)		probably null	Het
Igkv4-59	T	A	6: 69,415,345 (GRCm39)	Y70F	probably damaging	Het
Impdh1	A	C	6: 29,203,377 (GRCm39)	V14G	probably damaging	Het
Kif26b	A	G	1: 178,506,526 (GRCm39)	M201V	probably benign	Het
Macf1	A	G	4: 123,295,250 (GRCm39)	I5323T	probably damaging	Het
Mmp16	C	T	4: 18,051,743 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,932,943 (GRCm39)	D5619G	probably benign	Het
Or2ag20	T	C	7: 106,465,125 (GRCm39)	S313P	probably benign	Het
Pcdh7	T	C	5: 57,878,107 (GRCm39)	V554A	probably damaging	Het
Piezo2	T	C	18: 63,203,101 (GRCm39)	E1513G	probably damaging	Het
Rab6b	A	G	9: 103,039,837 (GRCm39)	D75G	probably damaging	Het
Ryr1	T	C	7: 28,790,501 (GRCm39)	Y1435C	probably damaging	Het
Scarf2	A	G	16: 17,620,413 (GRCm39)	N81S	probably damaging	Het
Six5	G	A	7: 18,830,272 (GRCm39)	A300T	possibly damaging	Het
Skap2	T	A	6: 51,989,375 (GRCm39)	N3Y	possibly damaging	Het
Skint6	A	T	4: 112,757,160 (GRCm39)	S734T	probably benign	Het
Slc15a4	A	C	5: 127,680,830 (GRCm39)	H396Q	probably benign	Het
Slco6c1	A	G	1: 97,053,553 (GRCm39)	M116T	possibly damaging	Het
Slfn9	T	C	11: 82,878,775 (GRCm39)	D118G	probably benign	Het
Trim3	T	C	7: 105,262,520 (GRCm39)	D546G	probably damaging	Het
Trpa1	A	G	1: 14,970,300 (GRCm39)	L362P	probably damaging	Het
Vwa5b2	A	G	16: 20,414,466 (GRCm39)	M281V	probably benign	Het
Wwp2	A	G	8: 108,210,000 (GRCm39)	E126G	probably damaging	Het
Zfp398	G	A	6: 47,842,997 (GRCm39)	G350S	probably damaging	Het

Other mutations in Vasn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Vasn	APN	16	4,466,232 (GRCm39)	missense	probably benign	0.00
PIT4243001:Vasn	UTSW	16	4,467,480 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Vasn	UTSW	16	4,467,909 (GRCm39)	missense	probably benign
R1394:Vasn	UTSW	16	4,467,576 (GRCm39)	nonsense	probably null
R1459:Vasn	UTSW	16	4,466,473 (GRCm39)	splice site	probably null
R2136:Vasn	UTSW	16	4,467,659 (GRCm39)	nonsense	probably null
R4482:Vasn	UTSW	16	4,466,190 (GRCm39)	missense	possibly damaging	0.87
R5423:Vasn	UTSW	16	4,466,284 (GRCm39)	missense	probably benign	0.01
R5733:Vasn	UTSW	16	4,468,026 (GRCm39)	missense	possibly damaging	0.93
R7230:Vasn	UTSW	16	4,467,486 (GRCm39)	missense	probably benign	0.10
R7507:Vasn	UTSW	16	4,467,345 (GRCm39)	missense	probably damaging	1.00
R8261:Vasn	UTSW	16	4,466,160 (GRCm39)	missense	probably damaging	0.97
R8858:Vasn	UTSW	16	4,466,833 (GRCm39)	missense	probably benign	0.34
R9083:Vasn	UTSW	16	4,467,871 (GRCm39)	missense	probably benign	0.37

Posted On

2013-12-03