Mutagenetix > Incidental Mutation

Incidental Mutation 'R7397:Vsig10l'

573887

Institutional Source

Beutler Lab

Gene Symbol

Vsig10l

Ensembl Gene

ENSMUSG00000070604

Gene Name

V-set and immunoglobulin domain containing 10 like

Synonyms

2210412E05Rik

MMRRC Submission

045479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R7397 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43112575-43121443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43117431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 573 (T573P)

Ref Sequence

ENSEMBL: ENSMUSP00000144692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107974] [ENSMUST00000107977] [ENSMUST00000203042] [ENSMUST00000203633] [ENSMUST00000203769] [ENSMUST00000204680]

AlphaFold

D3YZF7

Predicted Effect

probably benign
Transcript: ENSMUST00000107974

SMART Domains

Protein: ENSMUSP00000103608
Gene: ENSMUSG00000013367

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IG	39	130	1.7e-6	SMART
IGc2	145	202	4.45e-10	SMART
IGc2	229	298	1.69e-10	SMART
low complexity region	323	334	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107977
AA Change: T675P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103611
Gene: ENSMUSG00000070604
AA Change: T675P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
IG	183	285	1.92e0	SMART
IG	298	383	2.15e-3	SMART
IGc2	406	465	4.19e-6	SMART
Blast:IG_like	582	649	1e-13	BLAST
transmembrane domain	764	786	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203042

Predicted Effect

probably benign
Transcript: ENSMUST00000203633

SMART Domains

Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482

Domain	Start	End	E-Value	Type
ETF	26	216	2.7e-65	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000203769
AA Change: T573P

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

SMART Domains

Protein: ENSMUSP00000144692
Gene: ENSMUSG00000070604
AA Change: T573P

Domain	Start	End	E-Value	Type
IG	81	183	8.1e-3	SMART
IG	196	281	9.2e-6	SMART
IGc2	304	363	1.8e-8	SMART
Blast:IG_like	480	547	9e-14	BLAST
transmembrane domain	662	684	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204680

SMART Domains

Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482

Domain	Start	End	E-Value	Type
ETF	26	168	2.4e-17	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,848 (GRCm39)	H3R	unknown	Het
Adam18	T	A	8: 25,136,321 (GRCm39)	E400V	possibly damaging	Het
Ak5	A	T	3: 152,183,989 (GRCm39)	F473I	probably damaging	Het
Arhgef10l	G	A	4: 140,290,115 (GRCm39)	P486S	probably damaging	Het
Asphd1	T	A	7: 126,548,001 (GRCm39)	R101W	possibly damaging	Het
Bhlha15	G	A	5: 144,128,223 (GRCm39)	E112K	probably damaging	Het
C4b	A	T	17: 34,961,364 (GRCm39)	D198E	possibly damaging	Het
Carmil1	G	T	13: 24,228,294 (GRCm39)	P961T	probably damaging	Het
Catsperb	T	C	12: 101,554,282 (GRCm39)	S659P	possibly damaging	Het
Cdh3	C	T	8: 107,263,241 (GRCm39)	R97*	probably null	Het
Cep192	T	C	18: 67,989,268 (GRCm39)	I1805T	probably damaging	Het
Cep250	T	G	2: 155,823,331 (GRCm39)	L995R	probably damaging	Het
Cfap276	T	A	3: 108,450,864 (GRCm39)	I102N	probably benign	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chd5	A	G	4: 152,452,469 (GRCm39)	K809E	possibly damaging	Het
Csmd3	T	C	15: 47,559,130 (GRCm39)	T1467A		Het
Ctla2a	T	A	13: 61,083,463 (GRCm39)	R60S	probably damaging	Het
Cts6	A	T	13: 61,350,014 (GRCm39)	D22E	possibly damaging	Het
Ctsll3	T	A	13: 60,948,532 (GRCm39)	E109V	probably benign	Het
Dgka	G	A	10: 128,556,594 (GRCm39)	P701S	possibly damaging	Het
Dnhd1	A	T	7: 105,354,504 (GRCm39)	I3089F	possibly damaging	Het
Dock2	T	A	11: 34,609,816 (GRCm39)	D208V	probably benign	Het
Fnbp1l	G	T	3: 122,338,286 (GRCm39)	Q520K	probably benign	Het
Foxc1	A	G	13: 31,991,618 (GRCm39)	D143G	probably damaging	Het
Fsip2	G	A	2: 82,815,601 (GRCm39)	R3778Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,969,508 (GRCm39)	C4S	probably damaging	Het
Gpt	C	A	15: 76,582,717 (GRCm39)	T294K	probably benign	Het
Hsd17b4	G	T	18: 50,279,491 (GRCm39)	G157C	probably damaging	Het
Iars1	G	A	13: 49,882,153 (GRCm39)	E1066K	probably benign	Het
Ifih1	G	A	2: 62,453,832 (GRCm39)	T260I	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ipcef1	T	A	10: 6,922,244 (GRCm39)	*338R	probably null	Het
Kif20a	A	G	18: 34,760,729 (GRCm39)	T166A	probably damaging	Het
Map3k1	G	A	13: 111,891,742 (GRCm39)	A1171V	probably damaging	Het
Map3k21	T	C	8: 126,661,855 (GRCm39)	F484S	probably damaging	Het
Mbnl1	A	T	3: 60,523,051 (GRCm39)	Q180L	probably benign	Het
Mmp2	T	C	8: 93,562,755 (GRCm39)	F331L	possibly damaging	Het
Ms4a7	G	T	19: 11,298,916 (GRCm39)	H257N	probably benign	Het
Mtbp	T	A	15: 55,432,547 (GRCm39)	S285T	probably benign	Het
Mtrex	A	T	13: 113,058,220 (GRCm39)	D70E	probably benign	Het
Myo1c	A	G	11: 75,562,068 (GRCm39)	N852S	probably benign	Het
Myom3	T	A	4: 135,510,429 (GRCm39)	F574Y	probably damaging	Het
Nbeal2	A	G	9: 110,457,100 (GRCm39)	I2322T	possibly damaging	Het
Nlrp10	A	G	7: 108,523,899 (GRCm39)	L527P	probably damaging	Het
Nudt16l2	A	T	9: 105,021,621 (GRCm39)	W142R	probably damaging	Het
Nxnl1	C	T	8: 72,019,105 (GRCm39)	G40D	probably damaging	Het
Or52n1	C	T	7: 104,382,815 (GRCm39)	C252Y	possibly damaging	Het
Or5af1	C	T	11: 58,722,115 (GRCm39)	T45M	probably benign	Het
Otof	A	T	5: 30,533,051 (GRCm39)	W1564R	probably damaging	Het
Pcdhga7	A	G	18: 37,850,327 (GRCm39)	Y778C	probably benign	Het
Pcnx2	C	T	8: 126,617,624 (GRCm39)		probably null	Het
Pdpr	T	A	8: 111,839,385 (GRCm39)	N169K	possibly damaging	Het
Pkd1l2	C	A	8: 117,762,641 (GRCm39)	V1379F	possibly damaging	Het
Ppp4r1	T	G	17: 66,144,786 (GRCm39)	I801S	probably benign	Het
Ppp4r4	A	T	12: 103,579,065 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,366,327 (GRCm39)	D202G	probably benign	Het
Rap1gap2	T	C	11: 74,305,237 (GRCm39)	T323A	probably benign	Het
Rapgef4	T	C	2: 72,036,010 (GRCm39)	M501T	probably benign	Het
Rbm6	A	G	9: 107,729,718 (GRCm39)	M310T	probably benign	Het
Rdh1	A	T	10: 127,596,047 (GRCm39)	I81F	probably benign	Het
Rock1	C	T	18: 10,097,599 (GRCm39)	A730T	possibly damaging	Het
Rsl1	C	T	13: 67,330,101 (GRCm39)	T183I	possibly damaging	Het
Scyl3	T	C	1: 163,778,487 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,237,236 (GRCm39)	F116L	probably damaging	Het
Syt5	A	T	7: 4,545,395 (GRCm39)		probably null	Het
Tat	T	C	8: 110,724,200 (GRCm39)	L363P	probably damaging	Het
Ttn	A	G	2: 76,601,316 (GRCm39)	V18719A	possibly damaging	Het
Ube2e2	T	A	14: 18,630,339 (GRCm38)	D107V	probably damaging	Het
Vmn1r64	A	G	7: 5,887,013 (GRCm39)	S177P	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,947 (GRCm39)	W214R	probably damaging	Het
Vmn2r25	A	T	6: 123,800,498 (GRCm39)	F615I	probably damaging	Het
Vmn2r91	G	T	17: 18,356,060 (GRCm39)	V576L	probably benign	Het
Wdr93	A	G	7: 79,416,172 (GRCm39)	Q276R	probably null	Het
Zc3h7b	T	C	15: 81,653,354 (GRCm39)	V86A	possibly damaging	Het
Zeb1	T	A	18: 5,761,394 (GRCm39)	Y231N	probably damaging	Het
Zfp407	T	C	18: 84,579,944 (GRCm39)	K390E	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Vsig10l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Vsig10l	APN	7	43,114,678 (GRCm39)	missense	probably damaging	1.00
IGL01390:Vsig10l	APN	7	43,115,889 (GRCm39)	missense	probably damaging	0.97
IGL02401:Vsig10l	APN	7	43,113,468 (GRCm39)	missense	probably damaging	1.00
IGL02404:Vsig10l	APN	7	43,113,171 (GRCm39)	missense	possibly damaging	0.85
IGL02514:Vsig10l	APN	7	43,113,338 (GRCm39)	missense	probably benign	0.02
IGL02636:Vsig10l	APN	7	43,113,002 (GRCm39)	missense	possibly damaging	0.53
IGL02805:Vsig10l	APN	7	43,114,666 (GRCm39)	missense	probably damaging	1.00
IGL02823:Vsig10l	APN	7	43,115,888 (GRCm39)	missense	probably damaging	1.00
IGL02827:Vsig10l	APN	7	43,114,293 (GRCm39)	missense	probably damaging	1.00
R0111:Vsig10l	UTSW	7	43,117,525 (GRCm39)	missense	probably damaging	0.97
R0394:Vsig10l	UTSW	7	43,114,879 (GRCm39)	missense	probably damaging	0.97
R0465:Vsig10l	UTSW	7	43,116,866 (GRCm39)	missense	probably damaging	1.00
R0632:Vsig10l	UTSW	7	43,113,561 (GRCm39)	missense	probably damaging	0.97
R1689:Vsig10l	UTSW	7	43,114,792 (GRCm39)	missense	possibly damaging	0.93
R1991:Vsig10l	UTSW	7	43,116,892 (GRCm39)	missense	possibly damaging	0.89
R2103:Vsig10l	UTSW	7	43,116,892 (GRCm39)	missense	possibly damaging	0.89
R2358:Vsig10l	UTSW	7	43,118,185 (GRCm39)	missense	probably benign	0.00
R3015:Vsig10l	UTSW	7	43,116,881 (GRCm39)	missense	possibly damaging	0.73
R4024:Vsig10l	UTSW	7	43,117,510 (GRCm39)	missense	probably benign	0.33
R4031:Vsig10l	UTSW	7	43,114,798 (GRCm39)	missense	probably damaging	1.00
R4807:Vsig10l	UTSW	7	43,113,173 (GRCm39)	missense	possibly damaging	0.53
R5020:Vsig10l	UTSW	7	43,114,741 (GRCm39)	nonsense	probably null
R5261:Vsig10l	UTSW	7	43,120,274 (GRCm39)	missense	probably damaging	1.00
R5317:Vsig10l	UTSW	7	43,114,247 (GRCm39)	missense	probably damaging	1.00
R5426:Vsig10l	UTSW	7	43,114,247 (GRCm39)	missense	probably damaging	0.97
R5656:Vsig10l	UTSW	7	43,113,575 (GRCm39)	nonsense	probably null
R5842:Vsig10l	UTSW	7	43,118,396 (GRCm39)	missense	probably benign	0.15
R6012:Vsig10l	UTSW	7	43,117,439 (GRCm39)	missense	probably damaging	1.00
R6235:Vsig10l	UTSW	7	43,118,396 (GRCm39)	missense	probably benign	0.15
R6309:Vsig10l	UTSW	7	43,120,397 (GRCm39)	splice site	probably null
R6994:Vsig10l	UTSW	7	43,114,491 (GRCm39)	missense	possibly damaging	0.71
R7250:Vsig10l	UTSW	7	43,113,099 (GRCm39)	missense	probably benign
R7767:Vsig10l	UTSW	7	43,113,141 (GRCm39)	missense	probably damaging	0.96
R7956:Vsig10l	UTSW	7	43,117,494 (GRCm39)	missense	probably benign
R8086:Vsig10l	UTSW	7	43,114,876 (GRCm39)	missense	possibly damaging	0.92
R8139:Vsig10l	UTSW	7	43,113,153 (GRCm39)	missense	probably benign	0.00
R8297:Vsig10l	UTSW	7	43,113,531 (GRCm39)	missense	possibly damaging	0.50
R8341:Vsig10l	UTSW	7	43,113,378 (GRCm39)	missense	probably damaging	1.00
R8519:Vsig10l	UTSW	7	43,114,326 (GRCm39)	missense	probably benign	0.33
R8925:Vsig10l	UTSW	7	43,116,020 (GRCm39)	missense	probably benign	0.41
R8927:Vsig10l	UTSW	7	43,116,020 (GRCm39)	missense	probably benign	0.41
R8948:Vsig10l	UTSW	7	43,117,623 (GRCm39)	missense	possibly damaging	0.53
R9157:Vsig10l	UTSW	7	43,112,948 (GRCm39)	missense
R9203:Vsig10l	UTSW	7	43,112,657 (GRCm39)	start codon destroyed	probably null
R9481:Vsig10l	UTSW	7	43,112,795 (GRCm39)	nonsense	probably null
X0028:Vsig10l	UTSW	7	43,112,788 (GRCm39)	utr 3 prime	probably benign
X0067:Vsig10l	UTSW	7	43,116,914 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCAAGCATCCTTTCCCAG -3'
(R):5'- ACAACTCAACTTACCTGCCTGG -3'

Sequencing Primer
(F):5'- AGATCCAGGGGTCCAGATCAC -3'
(R):5'- CTGGCAGAGACCCCAAGATG -3'

Posted On

2019-09-13