Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Igsf3'

567483

Institutional Source

Beutler Lab

Gene Symbol

Igsf3

Ensembl Gene

ENSMUSG00000042035

Gene Name

immunoglobulin superfamily, member 3

Synonyms

1700016K10Rik, 2810035F16Rik, 4833439O17Rik

MMRRC Submission

045409-MU

Accession Numbers

Essential gene?

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

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101284399-101370375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101338895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 403 (V403D)

Ref Sequence

ENSEMBL: ENSMUSP00000048900 (fasta)

Gene Model

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

AlphaFold

Q6ZQA6

Predicted Effect

probably benign
Transcript: ENSMUST00000043983
AA Change: V403D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: V403D

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 benign
Transcript: ENSMUST00000195164
AA Change: V403D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: V403D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,771,094 (GRCm39)	Q192L	possibly damaging	Het
Abat	G	A	16: 8,423,457 (GRCm39)	R250Q	probably null	Het
Abcg3	A	C	5: 105,114,632 (GRCm39)	F295C	probably benign	Het
Abl1	T	C	2: 31,690,604 (GRCm39)	S708P	possibly damaging	Het
Acap2	A	T	16: 30,926,972 (GRCm39)	Y489*	probably null	Het
Akr1c6	A	T	13: 4,486,354 (GRCm39)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,589,270 (GRCm39)		probably null	Het
Asap1	A	G	15: 63,971,379 (GRCm39)		probably null	Het
Atrnl1	A	T	19: 57,630,856 (GRCm39)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,795,485 (GRCm39)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,795,460 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Bmi1	T	C	2: 18,689,230 (GRCm39)	S305P	probably benign	Het
Bpifc	T	A	10: 85,798,891 (GRCm39)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,993 (GRCm39)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,519,914 (GRCm39)	D428V	probably damaging	Het
Card14	A	C	11: 119,217,005 (GRCm39)	Q363P	probably null	Het
Cdca2	A	T	14: 67,950,673 (GRCm39)	L86H	probably damaging	Het
Cdh22	G	T	2: 164,954,214 (GRCm39)	S769*	probably null	Het
Cdhr17	A	G	5: 17,075,246 (GRCm39)	Y872C	possibly damaging	Het
Cep164	T	C	9: 45,686,664 (GRCm39)	E690G	probably damaging	Het
Cluh	A	G	11: 74,560,285 (GRCm39)	H1304R	probably benign	Het
Daxx	C	A	17: 34,129,435 (GRCm39)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,636,127 (GRCm39)	M1117V	possibly damaging	Het
Entpd3	T	A	9: 120,389,821 (GRCm39)		probably null	Het
Esr1	G	A	10: 4,889,259 (GRCm39)	A386T	probably damaging	Het
Etv5	G	A	16: 22,220,487 (GRCm39)	P300L	probably benign	Het
Exoc3l	A	T	8: 106,020,340 (GRCm39)	L195Q	probably damaging	Het
Exog	T	C	9: 119,274,069 (GRCm39)	L18P	unknown	Het
Fgfr1	T	A	8: 26,052,331 (GRCm39)	V219D	probably benign	Het
Gna14	A	T	19: 16,511,113 (GRCm39)	Q54L		Het
Gnb5	T	C	9: 75,221,570 (GRCm39)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,589,924 (GRCm39)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,149,884 (GRCm39)	D48E	probably damaging	Het
Hrc	T	A	7: 44,985,227 (GRCm39)	L126*	probably null	Het
Hspa8	T	G	9: 40,714,704 (GRCm39)	D333E	probably benign	Het
Itga10	C	A	3: 96,555,475 (GRCm39)	A143D	probably damaging	Het
Kdr	T	A	5: 76,104,985 (GRCm39)	I1082F	probably damaging	Het
Klk1b11	A	T	7: 43,428,254 (GRCm39)	I242F	probably damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Map1b	G	A	13: 99,570,163 (GRCm39)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm39)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,439,615 (GRCm39)	T358S	probably damaging	Het
Msantd5l	A	C	11: 51,145,474 (GRCm39)	W38G	probably damaging	Het
Mttp	T	C	3: 137,800,783 (GRCm39)	D759G	probably damaging	Het
Mup17	T	A	4: 61,511,929 (GRCm39)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,541,697 (GRCm39)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,778,436 (GRCm39)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,469 (GRCm39)		probably null	Het
Ncf1	A	T	5: 134,250,615 (GRCm39)	S402T	probably benign	Het
Ndufb10	T	C	17: 24,941,188 (GRCm39)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,721,409 (GRCm39)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,903,801 (GRCm39)	H172Q		Het
Nup205	T	A	6: 35,202,904 (GRCm39)	D1370E	possibly damaging	Het
Or1e32	A	C	11: 73,705,112 (GRCm39)	N265K	probably damaging	Het
Or51ab3	T	A	7: 103,201,892 (GRCm39)	I300N	probably damaging	Het
Or5b97	A	G	19: 12,878,637 (GRCm39)	F169S	probably damaging	Het
Pkd1l2	A	G	8: 117,750,773 (GRCm39)	V1746A	probably benign	Het
Plin2	T	A	4: 86,586,628 (GRCm39)	I68F	probably benign	Het
Proc	A	T	18: 32,268,952 (GRCm39)	M11K	probably benign	Het
Rif1	T	C	2: 51,995,631 (GRCm39)	V950A	probably benign	Het
Rmc1	A	G	18: 12,317,972 (GRCm39)	K362E	probably benign	Het
Rnf208	C	A	2: 25,133,587 (GRCm39)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,571,011 (GRCm39)	Y269*	probably null	Het
Senp7	T	C	16: 56,006,445 (GRCm39)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,419,269 (GRCm39)	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,099,121 (GRCm39)	H383N	probably benign	Het
Slc12a5	G	A	2: 164,834,360 (GRCm39)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,616,482 (GRCm39)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,188,103 (GRCm39)	I199L	probably damaging	Het
Styxl2	G	A	1: 165,926,300 (GRCm39)	T1104I	possibly damaging	Het
Tle4	A	T	19: 14,495,155 (GRCm39)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,081,651 (GRCm39)	S271*	probably null	Het
Tnks2	G	A	19: 36,856,839 (GRCm39)	V855I	probably benign	Het
Trank1	T	C	9: 111,196,194 (GRCm39)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Trim25	A	T	11: 88,906,608 (GRCm39)	N448I	probably benign	Het
Trim31	T	A	17: 37,218,194 (GRCm39)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,214,138 (GRCm39)	V502E	possibly damaging	Het
Usp10	A	C	8: 120,668,344 (GRCm39)	D215A	possibly damaging	Het
Usp33	T	G	3: 152,066,026 (GRCm39)	L102*	probably null	Het
Wdr12	A	T	1: 60,121,734 (GRCm39)	C272*	probably null	Het
Xndc1	A	C	7: 101,727,938 (GRCm39)		probably null	Het
Zkscan2	T	C	7: 123,089,276 (GRCm39)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,841,885 (GRCm39)	T822S	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
R5119:Igsf3	UTSW	3	101,346,677 (GRCm39)	splice site	probably null
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
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'- ACAGCTTAAGGTGGCCAAAG -3'
(R):5'- GTGTCTGACAGCAGCTTGAG -3'

Sequencing Primer
(F):5'- CCAAAGAGAGTGATGGTGTCTTTG -3'
(R):5'- TCTGCAGCCCAGGACATG -3'

Posted On

2019-06-26