Mutagenetix > Incidental Mutation

Incidental Mutation 'R4982:Igsf3'

384894

Institutional Source

Beutler Lab

Gene Symbol

Igsf3

Ensembl Gene

ENSMUSG00000042035

Gene Name

immunoglobulin superfamily, member 3

Synonyms

1700016K10Rik, 4833439O17Rik, 2810035F16Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101377083-101463059 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101435667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 540 (V540A)

Ref Sequence

ENSEMBL: ENSMUSP00000141823 (fasta)

Gene Model

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

AlphaFold

Q6ZQA6

Predicted Effect

probably benign
Transcript: ENSMUST00000043983
AA Change: V520A

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: V520A

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: V540A

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: V540A

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,348	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,835,230	S287P	probably damaging	Het
Atxn2	G	T	5: 121,814,343	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,932,208		probably null	Het
Bbs2	A	G	8: 94,082,354		probably null	Het
Bcl11b	A	T	12: 107,965,772	C180*	probably null	Het
Bod1l	A	G	5: 41,820,473	V1166A	probably benign	Het
Bora	C	T	14: 99,047,352	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,613,241	E24G	probably benign	Het
Ccne1	A	T	7: 38,100,571	I196N	probably damaging	Het
Chsy3	C	T	18: 59,409,575	S595L	probably benign	Het
Chsy3	T	A	18: 59,409,767	I659N	possibly damaging	Het
Cntrob	T	A	11: 69,311,362		probably null	Het
Col5a2	G	A	1: 45,389,458	P983S	possibly damaging	Het
Crat	T	A	2: 30,407,136		probably null	Het
Ctnnbl1	C	T	2: 157,836,553	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,255,387	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,682,602	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,688,564	C86R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Fam171a1	G	A	2: 3,178,468		probably null	Het
Fam222b	T	C	11: 78,154,743	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,702,651		probably benign	Het
Fes	T	C	7: 80,387,204	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,707,999	V51A	probably benign	Het
Gpr75	C	A	11: 30,891,462	H122Q	probably damaging	Het
Gpr75	C	T	11: 30,891,463	L123F	possibly damaging	Het
Greb1	A	G	12: 16,724,761	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512	H1041R	probably benign	Het
Ifna5	A	G	4: 88,835,624	N34D	probably damaging	Het
Ift140	A	T	17: 25,036,994	H221L	probably damaging	Het
Il10ra	A	G	9: 45,269,059	L5S	probably damaging	Het
Klra2	A	T	6: 131,220,189	D282E	probably benign	Het
Lyst	T	A	13: 13,725,954	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,042,129	T1689A	probably benign	Het
Mon2	A	T	10: 122,995,789	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,836,327	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,809,456		probably benign	Het
Mybbp1a	T	C	11: 72,445,214	I451T	probably damaging	Het
Myh7	T	A	14: 54,972,767	E1827V	probably damaging	Het
Olfr132	A	T	17: 38,130,577	I205N	probably damaging	Het
Olfr145	C	A	9: 37,897,515	T37N	probably damaging	Het
Olfr342	A	T	2: 36,527,397		probably null	Het
Olfr501-ps1	T	A	7: 108,508,648	Y197*	probably null	Het
Os9	C	T	10: 127,121,051	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,669,423	N107D	probably benign	Het
Pclo	C	T	5: 14,679,294		probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phtf1	T	A	3: 103,998,708	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,818,996	L913R	probably damaging	Het
Pld1	C	A	3: 28,031,298	A201D	probably damaging	Het
Rorb	T	A	19: 18,977,688	Q103L	probably benign	Het
Sec24d	C	T	3: 123,299,606	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,157,754	I86V	probably benign	Het
Serpinb6a	A	T	13: 33,918,874	M201K	probably damaging	Het
Snx8	A	G	5: 140,352,234	S219P	probably benign	Het
Sp8	C	T	12: 118,848,425	T5I	probably damaging	Het
Tanc1	A	G	2: 59,799,943	N749D	probably damaging	Het
Tarm1	G	C	7: 3,489,096	P284A	probably damaging	Het
Tbx15	A	T	3: 99,254,074	E65V	probably benign	Het
Ticam1	T	A	17: 56,272,020	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,492,815	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,107,504	*310W	probably null	Het
Tsks	C	T	7: 44,943,994	T128I	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,886,606	F702S	probably benign	Het
Vmn1r175	A	T	7: 23,809,069	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,933,865	I41T	probably damaging	Het
Ythdc2	A	G	18: 44,871,465	N1102S	probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	Het

Other mutations in Igsf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Igsf3	APN	3	101431239	missense	probably damaging	0.99
IGL00907:Igsf3	APN	3	101427448	splice site	probably benign
IGL01321:Igsf3	APN	3	101427022	splice site	probably benign
IGL01340:Igsf3	APN	3	101439679	nonsense	probably null
IGL02291:Igsf3	APN	3	101439529	missense	probably damaging	1.00
Bunsen	UTSW	3	101451296	critical splice donor site	probably null
residue	UTSW	3	101435435	missense	probably damaging	0.99
weaksister	UTSW	3	101451077	nonsense	probably null
PIT4402001:Igsf3	UTSW	3	101427077	missense	probably benign	0.00
R0090:Igsf3	UTSW	3	101435652	missense	probably damaging	1.00
R0143:Igsf3	UTSW	3	101435601	missense	probably damaging	1.00
R0418:Igsf3	UTSW	3	101435435	missense	probably damaging	0.99
R0711:Igsf3	UTSW	3	101427393	missense	probably benign	0.31
R1195:Igsf3	UTSW	3	101458103	missense	probably benign	0.05
R1195:Igsf3	UTSW	3	101458103	missense	probably benign	0.05
R1195:Igsf3	UTSW	3	101458103	missense	probably benign	0.05
R1384:Igsf3	UTSW	3	101451296	critical splice donor site	probably null
R1594:Igsf3	UTSW	3	101451077	nonsense	probably null
R1624:Igsf3	UTSW	3	101455227	missense	probably benign	0.37
R1766:Igsf3	UTSW	3	101431282	missense	probably damaging	1.00
R1988:Igsf3	UTSW	3	101431296	missense	probably benign	0.03
R2072:Igsf3	UTSW	3	101439515	missense	probably benign	0.02
R4707:Igsf3	UTSW	3	101458094	missense	probably benign	0.06
R4976:Igsf3	UTSW	3	101439361	splice site	probably null
R5008:Igsf3	UTSW	3	101450917	missense	probably damaging	0.97
R5119:Igsf3	UTSW	3	101439361	splice site	probably null
R5189:Igsf3	UTSW	3	101431527	missense	possibly damaging	0.64
R5456:Igsf3	UTSW	3	101427221	missense	probably benign	0.20
R5776:Igsf3	UTSW	3	101425480	missense	probably benign	0.01
R6112:Igsf3	UTSW	3	101451006	missense	probably damaging	1.00
R6383:Igsf3	UTSW	3	101435648	missense	probably benign	0.05
R6758:Igsf3	UTSW	3	101425498	missense	probably damaging	0.98
R7085:Igsf3	UTSW	3	101455489	missense	probably benign	0.12
R7310:Igsf3	UTSW	3	101431579	missense	probably benign	0.01
R7470:Igsf3	UTSW	3	101451075	missense	possibly damaging	0.67
R7707:Igsf3	UTSW	3	101459922	missense	probably benign	0.00
R7719:Igsf3	UTSW	3	101435541	missense	probably damaging	1.00
R7739:Igsf3	UTSW	3	101435531	missense	probably damaging	1.00
R8115:Igsf3	UTSW	3	101455279	missense	probably benign	0.01
R8128:Igsf3	UTSW	3	101439631	missense	probably damaging	1.00
R8221:Igsf3	UTSW	3	101439722	missense	probably damaging	1.00
R8716:Igsf3	UTSW	3	101427423	missense	probably damaging	1.00
R8730:Igsf3	UTSW	3	101427216	missense	probably benign	0.00
R9401:Igsf3	UTSW	3	101425759	missense	probably damaging	1.00
R9449:Igsf3	UTSW	3	101451006	missense	probably damaging	1.00
R9483:Igsf3	UTSW	3	101439501	missense	probably damaging	0.98
R9483:Igsf3	UTSW	3	101439588	missense	probably damaging	1.00
R9575:Igsf3	UTSW	3	101431309	missense	probably damaging	1.00
R9782:Igsf3	UTSW	3	101431296	missense	probably benign	0.03
X0027:Igsf3	UTSW	3	101435645	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATGTGGCTAGACCGGG -3'
(R):5'- TGGAAGATACTATCATGTCTAATCAGA -3'

Sequencing Primer
(F):5'- AGCTATGGAGGCATCCAG -3'
(R):5'- TCAAACTCAGAGCTCACTGGTGTG -3'

Posted On

2016-05-10