Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Vsig10'

189563

Institutional Source

Beutler Lab

Gene Symbol

Vsig10

Ensembl Gene

ENSMUSG00000066894

Gene Name

V-set and immunoglobulin domain containing 10

Synonyms

MMRRC Submission

039722-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117457331-117493071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117490825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 544 (D544G)

Ref Sequence

ENSEMBL: ENSMUSP00000107598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031309] [ENSMUST00000086464] [ENSMUST00000111967]

AlphaFold

D3YX43

Predicted Effect

probably benign
Transcript: ENSMUST00000031309

SMART Domains

Protein: ENSMUSP00000031309
Gene: ENSMUSG00000029364

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Blast:WD40	17	54	5e-17	BLAST
WD40	81	139	3.57e0	SMART
WD40	142	182	1.43e-9	SMART
WD40	186	225	1.59e-7	SMART
WD40	228	267	7.16e-10	SMART
WD40	270	321	6.53e-4	SMART
WD40	324	361	6.42e-1	SMART
SOCS	360	403	5.56e-17	SMART
SOCS_box	366	402	1.16e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086464
AA Change: D517G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
AA Change: D517G

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
IG	23	114	4.03e-8	SMART
IG	132	214	9.49e-5	SMART
Pfam:Ig_2	215	300	2.6e-2	PFAM
Pfam:Ig_3	216	284	3.5e-4	PFAM
IGc2	313	384	1.12e-6	SMART
transmembrane domain	403	425	N/A	INTRINSIC
coiled coil region	446	481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111967
AA Change: D544G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
AA Change: D544G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	50	141	4.03e-8	SMART
IG	159	241	9.49e-5	SMART
Blast:IG_like	248	327	2e-33	BLAST
IGc2	340	411	1.12e-6	SMART
transmembrane domain	430	452	N/A	INTRINSIC
coiled coil region	473	508	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147182

SMART Domains

Protein: ENSMUSP00000125808
Gene: ENSMUSG00000066894

Domain	Start	End	E-Value	Type
Blast:IG_like	1	41	3e-14	BLAST
IGc2	54	125	1.12e-6	SMART
transmembrane domain	144	166	N/A	INTRINSIC
coiled coil region	187	222	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,769,827 (GRCm39)	K896R	probably benign	Het
Adcy9	A	T	16: 4,115,426 (GRCm39)		probably null	Het
Adgre1	T	C	17: 57,756,921 (GRCm39)	F726S	probably benign	Het
Ahctf1	A	T	1: 179,595,948 (GRCm39)	S148T	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,913,741 (GRCm39)	A289D	probably benign	Het
Amotl1	T	C	9: 14,504,518 (GRCm39)	Y230C	probably damaging	Het
Armc6	A	T	8: 70,682,187 (GRCm39)	S65R	probably benign	Het
Atad2b	T	A	12: 5,084,575 (GRCm39)	Y1440*	probably null	Het
Atf6b	T	A	17: 34,869,276 (GRCm39)	D164E	probably damaging	Het
B4galt6	C	T	18: 20,839,553 (GRCm39)	S127N	probably benign	Het
Bcl11a	A	T	11: 24,113,167 (GRCm39)	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,114,406 (GRCm39)	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,600,182 (GRCm39)	Y228*	probably null	Het
Cav2	A	G	6: 17,281,421 (GRCm39)	H21R	probably benign	Het
Celsr2	T	A	3: 108,314,620 (GRCm39)	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,079,699 (GRCm39)		probably null	Het
Cysltr2	T	C	14: 73,267,470 (GRCm39)	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,855,984 (GRCm39)	M363K	possibly damaging	Het
Eml5	C	T	12: 98,797,194 (GRCm39)	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,713,915 (GRCm39)	T425A	probably damaging	Het
Ephx2	T	A	14: 66,324,475 (GRCm39)	K373*	probably null	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,750,862 (GRCm39)	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,215,682 (GRCm39)	S443G	probably damaging	Het
Fdft1	T	C	14: 63,394,138 (GRCm39)	E191G	probably benign	Het
Fgd2	A	G	17: 29,582,696 (GRCm39)	E26G	probably benign	Het
Gabra4	T	C	5: 71,790,885 (GRCm39)		probably null	Het
Gc	A	G	5: 89,589,059 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,439,506 (GRCm39)	D1361E	probably benign	Het
Hid1	A	G	11: 115,251,183 (GRCm39)	F118L	probably damaging	Het
Igsf8	G	T	1: 172,146,504 (GRCm39)	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,313,744 (GRCm39)	V4A	probably benign	Het
Irak3	T	C	10: 119,982,457 (GRCm39)	E335G	probably damaging	Het
Itgb8	T	G	12: 119,134,555 (GRCm39)	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,595,567 (GRCm39)	Y88N	probably damaging	Het
Klk1b5	T	C	7: 43,869,969 (GRCm39)	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,131,527 (GRCm39)	I135N	probably damaging	Het
Lrp2	G	T	2: 69,333,873 (GRCm39)	T1456K	probably benign	Het
Mrgprd	C	A	7: 144,875,454 (GRCm39)	Y108*	probably null	Het
Muc6	C	T	7: 141,234,265 (GRCm39)	G742D	probably damaging	Het
Nalcn	T	A	14: 123,522,666 (GRCm39)	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,280,231 (GRCm39)	Y126C	probably damaging	Het
Or14j1	T	C	17: 38,146,495 (GRCm39)	S202P	possibly damaging	Het
Or1ak2	A	G	2: 36,827,989 (GRCm39)	N286S	probably damaging	Het
Or7d11	A	T	9: 19,966,422 (GRCm39)	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,322,643 (GRCm39)		probably benign	Het
Pappa2	A	G	1: 158,784,968 (GRCm39)	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,408,688 (GRCm39)	G176D	probably damaging	Het
Pramel17	T	A	4: 101,694,376 (GRCm39)	K169I	possibly damaging	Het
Ptpra	T	C	2: 130,345,412 (GRCm39)	F5L	probably benign	Het
Qrfprl	A	G	6: 65,358,591 (GRCm39)	N105S	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,552 (GRCm39)	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Senp2	T	A	16: 21,845,416 (GRCm39)	Y217N	probably damaging	Het
Sned1	C	T	1: 93,211,094 (GRCm39)	R1061C	probably damaging	Het
Spag16	C	T	1: 70,500,277 (GRCm39)	T535I	probably benign	Het
Supt20	T	A	3: 54,619,583 (GRCm39)	L355*	probably null	Het
Tmem132b	A	G	5: 125,864,678 (GRCm39)	H928R	possibly damaging	Het
Tpo	A	T	12: 30,148,245 (GRCm39)	L552H	probably damaging	Het
Tsfm	A	T	10: 126,864,324 (GRCm39)	N130K	probably damaging	Het
Usp48	T	A	4: 137,383,418 (GRCm39)		probably null	Het
Vsig10l	C	T	7: 43,114,792 (GRCm39)	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,336,422 (GRCm39)	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,576,111 (GRCm39)	D60V	probably damaging	Het

Other mutations in Vsig10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Vsig10	APN	5	117,476,479 (GRCm39)	missense	probably benign	0.00
IGL00340:Vsig10	APN	5	117,489,652 (GRCm39)	missense	probably benign	0.03
IGL01082:Vsig10	APN	5	117,472,970 (GRCm39)	missense	probably benign	0.33
IGL01285:Vsig10	APN	5	117,462,954 (GRCm39)	missense	probably benign	0.43
IGL01790:Vsig10	APN	5	117,476,379 (GRCm39)	missense	probably damaging	1.00
IGL03004:Vsig10	APN	5	117,463,140 (GRCm39)	missense	probably damaging	1.00
D3080:Vsig10	UTSW	5	117,481,884 (GRCm39)	missense	probably damaging	1.00
R0101:Vsig10	UTSW	5	117,473,134 (GRCm39)	critical splice donor site	probably null
R0403:Vsig10	UTSW	5	117,476,526 (GRCm39)	missense	probably benign	0.05
R0674:Vsig10	UTSW	5	117,481,911 (GRCm39)	missense	probably damaging	1.00
R1437:Vsig10	UTSW	5	117,489,635 (GRCm39)	missense	probably damaging	0.96
R1710:Vsig10	UTSW	5	117,489,719 (GRCm39)	missense	probably benign
R1765:Vsig10	UTSW	5	117,456,880 (GRCm39)	unclassified	probably benign
R4422:Vsig10	UTSW	5	117,462,986 (GRCm39)	missense	probably benign	0.00
R4541:Vsig10	UTSW	5	117,490,881 (GRCm39)	utr 3 prime	probably benign
R4909:Vsig10	UTSW	5	117,476,308 (GRCm39)	missense	probably benign	0.31
R4999:Vsig10	UTSW	5	117,482,040 (GRCm39)	missense	probably damaging	1.00
R5855:Vsig10	UTSW	5	117,476,335 (GRCm39)	missense	probably damaging	1.00
R5866:Vsig10	UTSW	5	117,490,814 (GRCm39)	critical splice acceptor site	probably null
R6214:Vsig10	UTSW	5	117,481,989 (GRCm39)	missense	probably damaging	1.00
R6418:Vsig10	UTSW	5	117,486,361 (GRCm39)	missense	probably benign	0.03
R6505:Vsig10	UTSW	5	117,489,824 (GRCm39)	missense	possibly damaging	0.95
R6854:Vsig10	UTSW	5	117,476,472 (GRCm39)	missense	probably benign	0.36
R7121:Vsig10	UTSW	5	117,481,967 (GRCm39)	missense	probably damaging	1.00
R7596:Vsig10	UTSW	5	117,472,848 (GRCm39)	missense	possibly damaging	0.46
R8066:Vsig10	UTSW	5	117,489,849 (GRCm39)	missense	probably benign	0.00
R8335:Vsig10	UTSW	5	117,486,435 (GRCm39)	missense	probably damaging	1.00
R8787:Vsig10	UTSW	5	117,472,981 (GRCm39)	missense	probably benign	0.18
R9026:Vsig10	UTSW	5	117,476,323 (GRCm39)	missense	probably benign	0.00
R9257:Vsig10	UTSW	5	117,463,131 (GRCm39)	missense	probably benign	0.29
R9386:Vsig10	UTSW	5	117,463,140 (GRCm39)	missense	probably damaging	1.00
R9474:Vsig10	UTSW	5	117,463,104 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTTGGGTCCCACCTCATGGACTG -3'
(R):5'- AAGAGATGCTGTGCCTGTGCTG -3'

Sequencing Primer
(F):5'- tgggaagtggaagcggg -3'
(R):5'- TGCAGAGACCCCAGCAG -3'

Posted On

2014-05-14