Mutagenetix > Incidental Mutation

Incidental Mutation 'R5119:Igsf3'

392795

Institutional Source

Beutler Lab

Gene Symbol

Igsf3

Ensembl Gene

ENSMUSG00000042035

Gene Name

immunoglobulin superfamily, member 3

Synonyms

1700016K10Rik, 2810035F16Rik, 4833439O17Rik

MMRRC Submission

042707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R5119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101284399-101370375 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 101346677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043983] [ENSMUST00000195164]

AlphaFold

Q6ZQA6

Predicted Effect

probably null
Transcript: ENSMUST00000043983

SMART Domains

Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	142	7.7e-5	SMART
IG	152	275	1.99e-7	SMART
IG	287	405	1.79e0	SMART
IG	417	539	6.26e-5	SMART
IG	553	674	3.16e-1	SMART
IG	686	811	4.89e-7	SMART
IG	823	947	8.38e-6	SMART
IG	959	1109	6.97e-3	SMART
transmembrane domain	1125	1147	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000195164

SMART Domains

Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	142	3.1e-7	SMART
IG	152	275	8.2e-10	SMART
IG	287	405	7.4e-3	SMART
IG	437	559	2.5e-7	SMART
IG	573	694	1.3e-3	SMART
IG	706	831	1.9e-9	SMART
IG	843	967	3.4e-8	SMART
IG	979	1129	2.9e-5	SMART
transmembrane domain	1145	1167	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (127/127)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	C	A	2: 170,421,505 (GRCm39)	G125V	unknown	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts5	T	A	16: 85,696,466 (GRCm39)	R230S	probably benign	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Adgrv1	T	C	13: 81,567,546 (GRCm39)	Y5209C	possibly damaging	Het
Ahnak	G	T	19: 8,991,008 (GRCm39)	M4097I	probably benign	Het
Akap13	A	G	7: 75,337,000 (GRCm39)	T820A	probably damaging	Het
Als2cl	C	T	9: 110,719,887 (GRCm39)	R492C	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Arid4b	G	A	13: 14,338,866 (GRCm39)	V446M	probably benign	Het
Armc2	A	G	10: 41,798,144 (GRCm39)	L794P	probably damaging	Het
Atp6v0a1	T	A	11: 100,911,341 (GRCm39)	M80K	probably benign	Het
Aup1	T	C	6: 83,032,115 (GRCm39)	V94A	probably damaging	Het
Bank1	A	T	3: 135,940,443 (GRCm39)	I180K	possibly damaging	Het
Becn1	A	G	11: 101,182,221 (GRCm39)	L116P	probably damaging	Het
Bsg	A	G	10: 79,546,057 (GRCm39)		probably benign	Het
Camk2a	A	T	18: 61,076,208 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,914,603 (GRCm39)	E706G	possibly damaging	Het
Cdk8	A	T	5: 146,220,437 (GRCm39)		probably null	Het
Cpne4	A	G	9: 104,778,720 (GRCm39)		probably null	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cyp2c38	C	A	19: 39,449,065 (GRCm39)	G96V	probably damaging	Het
Dhx40	A	G	11: 86,667,462 (GRCm39)	I261T	probably damaging	Het
Dnah10	T	C	5: 124,856,322 (GRCm39)	F2038L	probably damaging	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Dtl	G	T	1: 191,273,618 (GRCm39)	A430D	probably damaging	Het
Ece2	T	C	16: 20,437,381 (GRCm39)	L241P	probably damaging	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Eppin	T	C	2: 164,431,371 (GRCm39)	Y85C	probably damaging	Het
Fam171a2	G	A	11: 102,329,559 (GRCm39)	A400V	probably damaging	Het
Fem1c	A	C	18: 46,639,436 (GRCm39)	C189G	probably damaging	Het
Frmd4b	A	G	6: 97,277,275 (GRCm39)	V560A	probably benign	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Gabbr1	T	C	17: 37,359,330 (GRCm39)	S102P	probably damaging	Het
Garin3	G	A	11: 46,297,863 (GRCm39)	G389D	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Gm30275	T	C	14: 54,312,978 (GRCm39)		probably benign	Het
Gm9762	A	T	3: 78,873,707 (GRCm39)		noncoding transcript	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Gps2	A	G	11: 69,805,617 (GRCm39)	K45R	probably benign	Het
Gramd2a	A	G	9: 59,621,603 (GRCm39)		probably benign	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Ifi204	A	T	1: 173,583,234 (GRCm39)	I328N	probably damaging	Het
Il1rap	T	C	16: 26,442,949 (GRCm39)	I15T	probably benign	Het
Il23r	A	T	6: 67,443,300 (GRCm39)	C268S	probably damaging	Het
Irx4	A	G	13: 73,417,040 (GRCm39)	T479A	probably benign	Het
Kcnk7	G	A	19: 5,756,352 (GRCm39)	V193I	probably benign	Het
Kcnt1	G	T	2: 25,799,334 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 64,994,902 (GRCm39)	C885G	probably benign	Het
Kif21b	C	A	1: 136,090,838 (GRCm39)	D1215E	probably benign	Het
Klhdc2	A	G	12: 69,343,736 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,924,050 (GRCm39)	N486S	probably benign	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrps28	C	T	3: 8,988,756 (GRCm39)	G34D	possibly damaging	Het
Myh8	A	G	11: 67,189,184 (GRCm39)	E1120G	probably damaging	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Nlgn1	A	T	3: 25,487,958 (GRCm39)	D763E	probably damaging	Het
Or11g26	T	C	14: 50,752,966 (GRCm39)	F102L	probably benign	Het
Or13c7c	G	T	4: 43,836,433 (GRCm39)	A19D	probably benign	Het
Or1e17	A	T	11: 73,831,378 (GRCm39)	Y102F	possibly damaging	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or5b118	C	T	19: 13,448,910 (GRCm39)	T192I	probably benign	Het
Or6c8b	T	A	10: 128,882,711 (GRCm39)	I74F	possibly damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcbp1	G	A	6: 86,501,897 (GRCm39)	A334V	probably damaging	Het
Pclaf	T	C	9: 65,798,062 (GRCm39)	V32A	probably benign	Het
Pga5	T	A	19: 10,654,053 (GRCm39)	H50L	probably benign	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Pik3ap1	C	T	19: 41,270,415 (GRCm39)	R758H	probably benign	Het
Plekha1	A	G	7: 130,507,094 (GRCm39)		probably benign	Het
Plekhm1	A	T	11: 103,278,141 (GRCm39)	N318K	possibly damaging	Het
Ppargc1b	G	A	18: 61,440,725 (GRCm39)	A731V	probably benign	Het
Pptc7	T	C	5: 122,451,844 (GRCm39)	V100A	possibly damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Prrc2c	T	C	1: 162,533,009 (GRCm39)		probably benign	Het
Psmb1	T	C	17: 15,718,524 (GRCm39)	M1V	probably null	Het
Ptpn3	A	G	4: 57,218,513 (GRCm39)	F650S	possibly damaging	Het
Ranbp17	A	T	11: 33,354,181 (GRCm39)	*577R	probably null	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Rgl2	T	A	17: 34,156,094 (GRCm39)	H727Q	probably benign	Het
Rhpn2	A	G	7: 35,070,549 (GRCm39)	T160A	probably damaging	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 92,007,444 (GRCm39)	E382G	probably damaging	Het
Rxrb	T	C	17: 34,252,562 (GRCm39)	S50P	probably benign	Het
Scn4b	A	T	9: 45,059,056 (GRCm39)	E109V	probably damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Slc22a29	A	T	19: 8,195,194 (GRCm39)	V147D	probably damaging	Het
Slc4a4	A	T	5: 89,102,721 (GRCm39)	E53V	probably null	Het
Slx4	A	G	16: 3,819,063 (GRCm39)	S37P	possibly damaging	Het
Spag9	G	A	11: 94,013,548 (GRCm39)	G1127D	probably damaging	Het
Srek1	T	A	13: 103,889,064 (GRCm39)		probably benign	Het
Supt5	G	T	7: 28,015,795 (GRCm39)	P849Q	probably damaging	Het
Tex14	T	C	11: 87,324,639 (GRCm39)	S2P	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tll2	A	G	19: 41,118,948 (GRCm39)	V260A	possibly damaging	Het
Tlr6	A	G	5: 65,111,644 (GRCm39)	V421A	probably benign	Het
Tmc3	T	G	7: 83,264,218 (GRCm39)	C649G	probably damaging	Het
Tnn	A	G	1: 159,948,122 (GRCm39)	W864R	probably damaging	Het
Tsc2	A	C	17: 24,822,254 (GRCm39)	V1095G	probably benign	Het
Vmn1r124	C	T	7: 20,994,172 (GRCm39)	G124D	probably damaging	Het
Vmn2r116	T	C	17: 23,606,138 (GRCm39)	V350A	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wrap53	T	A	11: 69,454,758 (GRCm39)	M204L	possibly damaging	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het
Zfp687	A	T	3: 94,918,987 (GRCm39)	S262T	probably benign	Het
Zfp831	T	A	2: 174,547,103 (GRCm39)	S1429T	probably benign	Het
Znfx1	G	A	2: 166,907,307 (GRCm39)		probably benign	Het

Other mutations in Igsf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Igsf3	APN	3	101,338,555 (GRCm39)	missense	probably damaging	0.99
IGL00907:Igsf3	APN	3	101,334,764 (GRCm39)	splice site	probably benign
IGL01321:Igsf3	APN	3	101,334,338 (GRCm39)	splice site	probably benign
IGL01340:Igsf3	APN	3	101,346,995 (GRCm39)	nonsense	probably null
IGL02291:Igsf3	APN	3	101,346,845 (GRCm39)	missense	probably damaging	1.00
Bunsen	UTSW	3	101,358,612 (GRCm39)	critical splice donor site	probably null
residue	UTSW	3	101,342,751 (GRCm39)	missense	probably damaging	0.99
weaksister	UTSW	3	101,358,393 (GRCm39)	nonsense	probably null
PIT4402001:Igsf3	UTSW	3	101,334,393 (GRCm39)	missense	probably benign	0.00
R0090:Igsf3	UTSW	3	101,342,968 (GRCm39)	missense	probably damaging	1.00
R0143:Igsf3	UTSW	3	101,342,917 (GRCm39)	missense	probably damaging	1.00
R0418:Igsf3	UTSW	3	101,342,751 (GRCm39)	missense	probably damaging	0.99
R0711:Igsf3	UTSW	3	101,334,709 (GRCm39)	missense	probably benign	0.31
R1195:Igsf3	UTSW	3	101,365,419 (GRCm39)	missense	probably benign	0.05
R1195:Igsf3	UTSW	3	101,365,419 (GRCm39)	missense	probably benign	0.05
R1195:Igsf3	UTSW	3	101,365,419 (GRCm39)	missense	probably benign	0.05
R1384:Igsf3	UTSW	3	101,358,612 (GRCm39)	critical splice donor site	probably null
R1594:Igsf3	UTSW	3	101,358,393 (GRCm39)	nonsense	probably null
R1624:Igsf3	UTSW	3	101,362,543 (GRCm39)	missense	probably benign	0.37
R1766:Igsf3	UTSW	3	101,338,598 (GRCm39)	missense	probably damaging	1.00
R1988:Igsf3	UTSW	3	101,338,612 (GRCm39)	missense	probably benign	0.03
R2072:Igsf3	UTSW	3	101,346,831 (GRCm39)	missense	probably benign	0.02
R4707:Igsf3	UTSW	3	101,365,410 (GRCm39)	missense	probably benign	0.06
R4976:Igsf3	UTSW	3	101,346,677 (GRCm39)	splice site	probably null
R4982:Igsf3	UTSW	3	101,342,983 (GRCm39)	missense	probably benign	0.42
R5008:Igsf3	UTSW	3	101,358,233 (GRCm39)	missense	probably damaging	0.97
R5189:Igsf3	UTSW	3	101,338,843 (GRCm39)	missense	possibly damaging	0.64
R5456:Igsf3	UTSW	3	101,334,537 (GRCm39)	missense	probably benign	0.20
R5776:Igsf3	UTSW	3	101,332,796 (GRCm39)	missense	probably benign	0.01
R6112:Igsf3	UTSW	3	101,358,322 (GRCm39)	missense	probably damaging	1.00
R6383:Igsf3	UTSW	3	101,342,964 (GRCm39)	missense	probably benign	0.05
R6758:Igsf3	UTSW	3	101,332,814 (GRCm39)	missense	probably damaging	0.98
R7085:Igsf3	UTSW	3	101,362,805 (GRCm39)	missense	probably benign	0.12
R7310:Igsf3	UTSW	3	101,338,895 (GRCm39)	missense	probably benign	0.01
R7470:Igsf3	UTSW	3	101,358,391 (GRCm39)	missense	possibly damaging	0.67
R7707:Igsf3	UTSW	3	101,367,238 (GRCm39)	missense	probably benign	0.00
R7719:Igsf3	UTSW	3	101,342,857 (GRCm39)	missense	probably damaging	1.00
R7739:Igsf3	UTSW	3	101,342,847 (GRCm39)	missense	probably damaging	1.00
R8115:Igsf3	UTSW	3	101,362,595 (GRCm39)	missense	probably benign	0.01
R8128:Igsf3	UTSW	3	101,346,947 (GRCm39)	missense	probably damaging	1.00
R8221:Igsf3	UTSW	3	101,347,038 (GRCm39)	missense	probably damaging	1.00
R8716:Igsf3	UTSW	3	101,334,739 (GRCm39)	missense	probably damaging	1.00
R8730:Igsf3	UTSW	3	101,334,532 (GRCm39)	missense	probably benign	0.00
R9401:Igsf3	UTSW	3	101,333,075 (GRCm39)	missense	probably damaging	1.00
R9449:Igsf3	UTSW	3	101,358,322 (GRCm39)	missense	probably damaging	1.00
R9483:Igsf3	UTSW	3	101,346,904 (GRCm39)	missense	probably damaging	1.00
R9483:Igsf3	UTSW	3	101,346,817 (GRCm39)	missense	probably damaging	0.98
R9575:Igsf3	UTSW	3	101,338,625 (GRCm39)	missense	probably damaging	1.00
R9782:Igsf3	UTSW	3	101,338,612 (GRCm39)	missense	probably benign	0.03
X0027:Igsf3	UTSW	3	101,342,961 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACCCGTGAAGTCTTAGGAAC -3'
(R):5'- AAAGTGGATGACTTGTCCCC -3'

Sequencing Primer
(F):5'- ACCCGTGAAGTCTTAGGAACTGTTG -3'
(R):5'- GAACCCCTCCATCTCGTGTGAAG -3'

Posted On

2016-06-15