Mutagenetix > Incidental Mutations

Incidental Mutation 'R1585:Igsf10'

177414

Institutional Source

Beutler Lab

Gene Symbol

Igsf10

Ensembl Gene

ENSMUSG00000036334

Gene Name

immunoglobulin superfamily, member 10

Synonyms

Adlican2, CMF608, 6530405F15Rik

MMRRC Submission

039622-MU

Accession Numbers

Genbank: NM_001162884; MGI: 1923481

Is this an essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R1585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59316735-59344394 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 59330417 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 781 (P781R)

Ref Sequence

ENSEMBL: ENSMUSP00000141391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039419] [ENSMUST00000193455] [ENSMUST00000194546]

Predicted Effect

probably damaging
Transcript: ENSMUST00000039419
AA Change: P781R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037246
Gene: ENSMUSG00000036334
AA Change: P781R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LRRNT	28	61	3.24e-4	SMART
LRR	57	79	9.24e1	SMART
LRR	80	103	2.02e-1	SMART
LRR	104	127	7.16e0	SMART
LRR_TYP	128	151	1.2e-3	SMART
LRR	152	175	1.25e-1	SMART
LRR	188	207	2.33e2	SMART
LRRCT	219	280	4.19e-4	SMART
IGc2	488	558	2.34e-4	SMART
IGc2	586	652	7.88e-11	SMART
low complexity region	917	930	N/A	INTRINSIC
low complexity region	1175	1185	N/A	INTRINSIC
low complexity region	1245	1263	N/A	INTRINSIC
low complexity region	1311	1321	N/A	INTRINSIC
low complexity region	1449	1465	N/A	INTRINSIC
IGc2	1632	1701	7.69e-14	SMART
IGc2	1729	1798	5.07e-14	SMART
IGc2	1826	1895	2.19e-9	SMART
IGc2	1925	1994	4.59e-12	SMART
IGc2	2022	2097	1.33e-8	SMART
IGc2	2125	2191	2.96e-15	SMART
IGc2	2223	2291	2.03e-4	SMART
IGc2	2321	2389	9.99e-13	SMART
IGc2	2416	2484	3.03e-12	SMART
IGc2	2512	2583	7.76e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000193455
AA Change: P781R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141971
Gene: ENSMUSG00000036334
AA Change: P781R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LRRNT	28	61	3.24e-4	SMART
LRR	57	79	9.24e1	SMART
LRR	80	103	2.02e-1	SMART
LRR	104	127	7.16e0	SMART
LRR_TYP	128	151	1.2e-3	SMART
LRR	152	175	1.25e-1	SMART
LRR	188	207	2.33e2	SMART
LRRCT	219	280	4.19e-4	SMART
IGc2	488	558	2.34e-4	SMART
IGc2	586	652	7.88e-11	SMART
low complexity region	917	930	N/A	INTRINSIC
low complexity region	1175	1185	N/A	INTRINSIC
low complexity region	1245	1263	N/A	INTRINSIC
low complexity region	1311	1321	N/A	INTRINSIC
low complexity region	1449	1465	N/A	INTRINSIC
IGc2	1632	1701	7.69e-14	SMART
IGc2	1729	1798	5.07e-14	SMART
IGc2	1826	1895	2.19e-9	SMART
IGc2	1925	1994	4.59e-12	SMART
IGc2	2022	2097	1.33e-8	SMART
IGc2	2125	2191	2.96e-15	SMART
IGc2	2223	2291	2.03e-4	SMART
IGc2	2321	2389	9.99e-13	SMART
IGc2	2416	2484	3.03e-12	SMART
IGc2	2512	2583	7.76e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000194546
AA Change: P781R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141391
Gene: ENSMUSG00000036334
AA Change: P781R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LRRNT	28	61	3.24e-4	SMART
LRR	57	79	9.24e1	SMART
LRR	80	103	2.02e-1	SMART
LRR	104	127	7.16e0	SMART
LRR_TYP	128	151	1.2e-3	SMART
LRR	152	175	1.25e-1	SMART
LRR	188	207	2.33e2	SMART
LRRCT	219	280	4.19e-4	SMART
IGc2	488	558	2.34e-4	SMART
IGc2	586	652	7.88e-11	SMART
low complexity region	917	930	N/A	INTRINSIC
low complexity region	1175	1185	N/A	INTRINSIC
low complexity region	1245	1263	N/A	INTRINSIC
low complexity region	1311	1321	N/A	INTRINSIC
low complexity region	1449	1465	N/A	INTRINSIC
IGc2	1632	1701	7.69e-14	SMART
IGc2	1729	1798	5.07e-14	SMART
IGc2	1826	1895	2.19e-9	SMART
IGc2	1925	1994	4.59e-12	SMART
IGc2	2022	2097	1.33e-8	SMART
IGc2	2125	2191	2.96e-15	SMART
IGc2	2223	2291	2.03e-4	SMART
IGc2	2321	2389	9.99e-13	SMART
IGc2	2416	2484	3.03e-12	SMART
IGc2	2512	2583	7.76e-10	SMART

Meta Mutation Damage Score

0.044

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

95% (81/85)

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	G	A	8: 45,956,478	S268L	probably benign	Het
2310057J18Rik	T	A	10: 28,982,522	I50F	possibly damaging	Het
4930505A04Rik	T	C	11: 30,427,175		probably benign	Het
Aadat	A	T	8: 60,526,680	D192V	possibly damaging	Het
Akap12	A	G	10: 4,353,640	D150G	probably benign	Het
Amigo3	A	T	9: 108,054,032	N218I	probably damaging	Het
Ankmy1	A	G	1: 92,899,651	S60P	probably benign	Het
Apol7e	G	A	15: 77,717,829	S209N	probably damaging	Het
AW551984	A	T	9: 39,599,336	Y234*	probably null	Het
Bcam	A	T	7: 19,760,186	D393E	probably damaging	Het
Card9	A	G	2: 26,354,386	L444P	probably benign	Het
Ccar1	T	C	10: 62,751,001	E886G	unknown	Het
Ccnb2	A	T	9: 70,410,277		probably null	Het
Cd276	T	C	9: 58,535,555	S206G	probably damaging	Het
Cds1	T	A	5: 101,817,962		probably benign	Het
Chuk	T	C	19: 44,077,373	S661G	possibly damaging	Het
Col17a1	T	C	19: 47,650,837	N1090D	probably benign	Het
Col3a1	A	T	1: 45,327,866		probably null	Het
Crispld1	G	T	1: 17,750,800	V355F	possibly damaging	Het
Cspg4	A	T	9: 56,898,867	R2321W	probably damaging	Het
Dner	T	C	1: 84,585,456	T61A	probably benign	Het
Dnmt3a	A	T	12: 3,901,660	Y679F	probably damaging	Het
Dzip3	A	T	16: 48,977,878		probably benign	Het
Eif3l	T	C	15: 79,084,181	S217P	possibly damaging	Het
Fbxo42	T	A	4: 141,198,106		probably benign	Het
Fhod1	A	T	8: 105,337,325		probably benign	Het
Fzd1	T	A	5: 4,756,278	I435F	probably damaging	Het
Gapvd1	C	T	2: 34,712,195	V647I	possibly damaging	Het
Gm14496	T	C	2: 181,996,209	S359P	possibly damaging	Het
Gm5218	C	A	15: 81,499,540		noncoding transcript	Het
Hnrnph3	A	G	10: 63,015,800		probably null	Het
Hsd17b12	G	T	2: 94,033,976	T262K	probably damaging	Het
Il11ra1	T	A	4: 41,768,207	S373T	probably damaging	Het
Kdm3b	A	G	18: 34,809,292	D612G	probably damaging	Het
Ldb1	T	C	19: 46,034,464	T261A	probably damaging	Het
Lep	C	A	6: 29,069,090	H47N	possibly damaging	Het
Lrrtm2	A	T	18: 35,213,375	S291R	possibly damaging	Het
Ncor2	T	C	5: 125,084,998	Q404R	unknown	Het
Nlrp4d	T	C	7: 10,382,510	H148R	probably benign	Het
Nlrp9a	T	A	7: 26,558,668	D570E	probably benign	Het
Nphp3	G	A	9: 104,009,214	V202I	probably damaging	Het
Nptn	T	A	9: 58,640,790	N159K	probably benign	Het
Olfr1241	T	A	2: 89,482,971	T55S	probably benign	Het
Olfr1245	A	T	2: 89,575,402	V108D	possibly damaging	Het
Olfr568	G	A	7: 102,877,773	V218I	probably benign	Het
Olfr628	A	T	7: 103,732,378	T151S	possibly damaging	Het
Olfr920	A	T	9: 38,756,420	H244L	probably damaging	Het
Pcolce	T	A	5: 137,610,507	R13*	probably null	Het
Pdgfra	A	G	5: 75,192,603	Y1018C	probably damaging	Het
Prima1	A	G	12: 103,235,595	S74P	probably damaging	Het
Prl7c1	A	G	13: 27,778,855	L55P	probably damaging	Het
Rasef	A	G	4: 73,740,337	V513A	probably damaging	Het
Rgs1	T	C	1: 144,245,489		probably null	Het
Rlf	T	C	4: 121,148,291	E1164G	probably benign	Het
Rnf213	A	T	11: 119,463,345	N4016I	probably damaging	Het
Sae1	C	T	7: 16,330,612		probably null	Het
Serping1	A	T	2: 84,771,504	D207E	probably benign	Het
Setd2	T	A	9: 110,551,396	D33E	unknown	Het
Simc1	T	C	13: 54,525,258	M473T	probably benign	Het
Slc30a6	T	A	17: 74,418,615		probably benign	Het
Slc4a5	T	C	6: 83,265,687	L346P	probably damaging	Het
Spef2	T	A	15: 9,596,574	Q1473L	probably damaging	Het
St3gal3	G	T	4: 117,960,007	A44D	possibly damaging	Het
Sv2b	G	T	7: 75,147,677	T323K	probably damaging	Het
Sycp2	T	A	2: 178,351,668	N1228I	possibly damaging	Het
Thbs2	T	A	17: 14,689,768	M190L	probably benign	Het
Tnrc6a	G	A	7: 123,176,875	V1190I	probably benign	Het
Utrn	A	T	10: 12,436,285	I673K	possibly damaging	Het
Vmn2r114	C	T	17: 23,291,701	V602M	probably damaging	Het
Wdr7	A	T	18: 63,924,918	I1273L	probably benign	Het
Zfp618	T	C	4: 63,132,938	L652P	probably damaging	Het
Zfp804a	G	A	2: 82,053,751		probably benign	Het

Other mutations in Igsf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Igsf10	APN	3	59331539	missense	probably benign	0.03
IGL00790:Igsf10	APN	3	59319517	missense	probably damaging	1.00
IGL00916:Igsf10	APN	3	59331127	missense	probably damaging	0.97
IGL00928:Igsf10	APN	3	59330597	missense	probably benign	0.00
IGL01066:Igsf10	APN	3	59327782	critical splice donor site	probably null
IGL01107:Igsf10	APN	3	59331524	missense	probably damaging	1.00
IGL01420:Igsf10	APN	3	59319650	missense	probably benign	0.02
IGL01533:Igsf10	APN	3	59319230	missense	probably damaging	0.98
IGL01537:Igsf10	APN	3	59330031	missense	probably benign	0.00
IGL01676:Igsf10	APN	3	59326011	missense	probably benign	0.06
IGL01676:Igsf10	APN	3	59329335	missense	probably benign	0.17
IGL01960:Igsf10	APN	3	59318737	missense	probably benign	0.00
IGL02123:Igsf10	APN	3	59318660	missense	probably damaging	0.97
IGL02198:Igsf10	APN	3	59325978	missense	possibly damaging	0.95
IGL02268:Igsf10	APN	3	59331152	nonsense	probably null
IGL02313:Igsf10	APN	3	59330690	missense	probably benign	0.01
IGL02368:Igsf10	APN	3	59328231	missense	probably benign
IGL02494:Igsf10	APN	3	59328006	missense	probably damaging	0.98
IGL02549:Igsf10	APN	3	59329241	missense	probably benign	0.03
IGL02616:Igsf10	APN	3	59318606	missense	probably benign	0.06
IGL02957:Igsf10	APN	3	59330864	missense	probably damaging	1.00
IGL03067:Igsf10	APN	3	59318918	missense	probably benign	0.25
IGL03104:Igsf10	APN	3	59319484	missense	probably damaging	1.00
IGL03124:Igsf10	APN	3	59319665	missense	probably benign	0.01
IGL03212:Igsf10	APN	3	59328165	missense	probably benign	0.09
IGL03347:Igsf10	APN	3	59331900	missense	possibly damaging	0.94
IGL03357:Igsf10	APN	3	59336211	missense	probably benign	0.35
F6893:Igsf10	UTSW	3	59331060	missense	probably damaging	1.00
FR4449:Igsf10	UTSW	3	59319110	missense	probably damaging	1.00
PIT1430001:Igsf10	UTSW	3	59328158	missense	probably benign	0.06
R0068:Igsf10	UTSW	3	59330624	missense	probably damaging	0.98
R0095:Igsf10	UTSW	3	59331196	nonsense	probably null
R0095:Igsf10	UTSW	3	59331196	nonsense	probably null
R0112:Igsf10	UTSW	3	59326008	missense	probably benign	0.00
R0141:Igsf10	UTSW	3	59330832	missense	probably damaging	1.00
R0538:Igsf10	UTSW	3	59320106	missense	probably damaging	0.99
R0551:Igsf10	UTSW	3	59328668	missense	probably benign	0.01
R0556:Igsf10	UTSW	3	59328875	missense	probably benign	0.02
R0582:Igsf10	UTSW	3	59319767	missense	probably benign	0.00
R0630:Igsf10	UTSW	3	59326062	missense	probably damaging	1.00
R0675:Igsf10	UTSW	3	59328594	missense	probably benign	0.14
R0948:Igsf10	UTSW	3	59331104	missense	probably damaging	1.00
R1252:Igsf10	UTSW	3	59331848	missense	probably benign	0.03
R1412:Igsf10	UTSW	3	59327775	splice site	probably benign
R1473:Igsf10	UTSW	3	59318767	missense	probably damaging	1.00
R1650:Igsf10	UTSW	3	59326162	missense	probably damaging	1.00
R1660:Igsf10	UTSW	3	59331285	missense	probably damaging	1.00
R1671:Igsf10	UTSW	3	59328500	nonsense	probably null
R1748:Igsf10	UTSW	3	59319093	missense	probably damaging	1.00
R1758:Igsf10	UTSW	3	59329196	missense	probably benign	0.09
R1856:Igsf10	UTSW	3	59331272	missense	possibly damaging	0.63
R1912:Igsf10	UTSW	3	59329572	missense	probably benign	0.40
R2148:Igsf10	UTSW	3	59336577	missense	possibly damaging	0.77
R2155:Igsf10	UTSW	3	59331680	missense	probably damaging	1.00
R2509:Igsf10	UTSW	3	59331866	missense	probably damaging	1.00
R2511:Igsf10	UTSW	3	59331866	missense	probably damaging	1.00
R2680:Igsf10	UTSW	3	59325454	missense	probably benign	0.14
R2913:Igsf10	UTSW	3	59331736	missense	possibly damaging	0.70
R2927:Igsf10	UTSW	3	59329427	missense	probably benign
R3547:Igsf10	UTSW	3	59330541	missense	probably benign	0.02
R3547:Igsf10	UTSW	3	59336514	missense	probably damaging	1.00
R3548:Igsf10	UTSW	3	59336514	missense	probably damaging	1.00
R3620:Igsf10	UTSW	3	59336331	missense	probably damaging	1.00
R3732:Igsf10	UTSW	3	59325714	missense	probably benign	0.29
R3743:Igsf10	UTSW	3	59326125	missense	possibly damaging	0.69
R3973:Igsf10	UTSW	3	59331924	missense	probably damaging	1.00
R4005:Igsf10	UTSW	3	59328560	missense	probably benign	0.00
R4184:Igsf10	UTSW	3	59319731	missense	probably damaging	1.00
R4302:Igsf10	UTSW	3	59318750	missense	probably damaging	1.00
R4404:Igsf10	UTSW	3	59329551	missense	probably benign	0.04
R4575:Igsf10	UTSW	3	59330100	missense	probably benign
R4676:Igsf10	UTSW	3	59325949	missense	probably benign	0.23
R4700:Igsf10	UTSW	3	59320330	missense	probably damaging	0.99
R4765:Igsf10	UTSW	3	59329705	missense	probably benign	0.01
R4986:Igsf10	UTSW	3	59328606	missense	probably benign	0.24
R5012:Igsf10	UTSW	3	59318722	missense	probably damaging	1.00
R5070:Igsf10	UTSW	3	59328293	missense	probably benign	0.02
R5083:Igsf10	UTSW	3	59326273	missense	probably damaging	1.00
R5336:Igsf10	UTSW	3	59320132	missense	probably damaging	1.00
R5462:Igsf10	UTSW	3	59325754	missense	probably damaging	1.00
R5648:Igsf10	UTSW	3	59328153	missense	probably benign	0.01
R5810:Igsf10	UTSW	3	59319071	missense	probably damaging	1.00
R5871:Igsf10	UTSW	3	59330411	missense	possibly damaging	0.83
R5880:Igsf10	UTSW	3	59330831	missense	probably damaging	1.00
R5935:Igsf10	UTSW	3	59328157	missense	probably benign	0.12
R5979:Igsf10	UTSW	3	59336473	missense	probably damaging	1.00
R6145:Igsf10	UTSW	3	59331656	missense	possibly damaging	0.83
R6222:Igsf10	UTSW	3	59318915	missense	possibly damaging	0.90
R6224:Igsf10	UTSW	3	59325510	missense	probably damaging	1.00
R6264:Igsf10	UTSW	3	59328507	missense	possibly damaging	0.88
R6283:Igsf10	UTSW	3	59319449	missense	probably damaging	1.00
R6336:Igsf10	UTSW	3	59330339	missense	probably benign	0.00
R6490:Igsf10	UTSW	3	59329571	missense	probably benign	0.06
R6785:Igsf10	UTSW	3	59319244	missense	probably damaging	1.00
R6873:Igsf10	UTSW	3	59328444	missense	probably benign
R6889:Igsf10	UTSW	3	59331933	missense	probably benign
Z1088:Igsf10	UTSW	3	59329938	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- CAGAAGCTGAACTTGTCACAAAGCC -3'
(R):5'- CAGTGTTCTCCTTAAGCAGCCACC -3'

Sequencing Primer
(F):5'- CATGATTTACTGGTCTAGAGTCAGC -3'
(R):5'- TGCATCATCTTTGACAGGGACAG -3'

Posted On

2014-04-24