Mutagenetix > Incidental Mutation

Incidental Mutation 'R1394:Vasn'

162764

Institutional Source

Beutler Lab

Gene Symbol

Vasn

Ensembl Gene

ENSMUSG00000039646

Gene Name

vasorin

Synonyms

ATIA, Slitl2, 2610528G05Rik

MMRRC Submission

039456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R1394 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4457805-4468666 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 4467576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 508 (R508*)

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

probably null
Transcript: ENSMUST00000038770
AA Change: R508*

SMART Domains

Protein: ENSMUSP00000045162
Gene: ENSMUSG00000039646
AA Change: R508*

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

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,249,362 (GRCm39)	Y122H	probably damaging	Het
Ankrd27	T	C	7: 35,315,294 (GRCm39)	F481S	possibly damaging	Het
Casd1	T	G	6: 4,624,117 (GRCm39)	C303W	probably damaging	Het
Cep128	C	T	12: 91,233,754 (GRCm39)	R438Q	probably benign	Het
Cep192	A	G	18: 67,991,992 (GRCm39)	T1957A	probably damaging	Het
Cep290	T	C	10: 100,373,391 (GRCm39)	S1224P	possibly damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Cwc22	G	A	2: 77,759,823 (GRCm39)	R75C	possibly damaging	Het
Cyp4a30b	A	T	4: 115,328,089 (GRCm39)		probably null	Het
Dnah11	T	C	12: 117,936,099 (GRCm39)	D3298G	possibly damaging	Het
Drc3	T	C	11: 60,284,545 (GRCm39)	I450T	possibly damaging	Het
Dst	T	C	1: 34,204,236 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Emilin2	G	T	17: 71,560,066 (GRCm39)	D970E	possibly damaging	Het
Fcgbp	A	G	7: 27,792,804 (GRCm39)	H936R	probably damaging	Het
Fkbp15	T	A	4: 62,246,109 (GRCm39)	M440L	probably benign	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gm44511	G	A	6: 128,797,293 (GRCm39)	S32L	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Ift81	G	T	5: 122,706,986 (GRCm39)	D485E	probably benign	Het
Ipp	T	A	4: 116,395,109 (GRCm39)	L548*	probably null	Het
Itm2a	C	T	X: 106,441,807 (GRCm39)	V200I	possibly damaging	Het
Kank1	A	G	19: 25,405,528 (GRCm39)	N1182S	probably damaging	Het
Mkks	C	T	2: 136,722,882 (GRCm39)	G92S	probably damaging	Het
Mybbp1a	C	T	11: 72,334,474 (GRCm39)	P243L	probably damaging	Het
Myo1f	A	G	17: 33,802,714 (GRCm39)	D386G	probably damaging	Het
Obsl1	T	C	1: 75,469,309 (GRCm39)	S109G	probably damaging	Het
Or6z6	T	A	7: 6,491,361 (GRCm39)	T171S	probably damaging	Het
Or9s13	T	A	1: 92,548,267 (GRCm39)	I213N	probably benign	Het
Pcdh12	A	G	18: 38,414,242 (GRCm39)		probably null	Het
Phlpp1	T	C	1: 106,278,348 (GRCm39)	V920A	possibly damaging	Het
Phlpp2	T	A	8: 110,603,662 (GRCm39)	C109*	probably null	Het
Prickle2	T	A	6: 92,353,363 (GRCm39)	H701L	possibly damaging	Het
Psen1	G	A	12: 83,771,346 (GRCm39)	G209R	probably damaging	Het
Psg19	T	C	7: 18,530,983 (GRCm39)	N57S	probably damaging	Het
Rdh12	A	G	12: 79,255,839 (GRCm39)	T9A	probably benign	Het
Rgma	G	T	7: 73,067,542 (GRCm39)	A360S	probably benign	Het
Scyl2	T	A	10: 89,476,827 (GRCm39)	K766M	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31e5	T	C	1: 28,815,890 (GRCm39)	E714G	possibly damaging	Het
Spata46	A	G	1: 170,139,573 (GRCm39)	T191A	probably benign	Het
Spin1	T	C	13: 51,298,517 (GRCm39)	Y179H	probably damaging	Het
Tecpr1	T	C	5: 144,143,357 (GRCm39)	T673A	possibly damaging	Het
Tenm3	T	A	8: 48,729,435 (GRCm39)	M1508L	probably benign	Het
Vmn2r15	T	A	5: 109,442,014 (GRCm39)	I140L	probably benign	Het
Wdr44	T	G	X: 23,662,298 (GRCm39)	C645G	probably damaging	Het
Zfand1	G	T	3: 10,411,269 (GRCm39)	T62K	probably benign	Het
Zfy1	C	T	Y: 725,957 (GRCm39)	V603I	possibly 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
IGL01543:Vasn	APN	16	4,467,756 (GRCm39)	missense	possibly damaging	0.60
PIT4243001:Vasn	UTSW	16	4,467,480 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Vasn	UTSW	16	4,467,909 (GRCm39)	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CATTGGCCTGTACTGTGAGAGTCC -3'
(R):5'- TGTCCTGAGCTGTAGAAGTTGCCC -3'

Sequencing Primer
(F):5'- CTGTGAGAGTCCAGTGGAGC -3'
(R):5'- TGTAGAAGTTGCCCGTGCC -3'

Posted On

2014-03-17