Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4402001:Igsf3'

555512

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: 0.352) question?

Stock #

PIT4402001 (G1)

Quality Score

182.009

Status

Not validated

Chromosome

Chromosomal Location

101377083-101463059 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101427077 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 157 (K157E)

Ref Sequence

ENSEMBL: ENSMUSP00000048900 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043983
AA Change: K157E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: K157E

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: K157E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: K157E

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: 92.8%
3x: 90.3%
10x: 83.2%
20x: 68.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	G	14: 59,142,635	L71F	probably damaging	Het
Adamts9	C	T	6: 92,872,347	V1044I	probably benign	Het
Alcam	T	C	16: 52,295,134	Y207C	probably damaging	Het
Aldh4a1	C	A	4: 139,642,191	S351*	probably null	Het
Aoah	C	A	13: 20,794,510	S39R	probably benign	Het
Arcn1	A	T	9: 44,745,602	V421E	possibly damaging	Het
Ccdc18	A	G	5: 108,158,619	E300G	possibly damaging	Het
Cdk2ap2	C	A	19: 4,098,557	R126S	probably damaging	Het
Dcun1d4	A	G	5: 73,510,933	I39V	probably benign	Het
Fam53b	A	T	7: 132,760,017	I94N	probably damaging	Het
Fam83g	A	G	11: 61,703,596	H652R	probably damaging	Het
Fanca	A	T	8: 123,313,064	M157K	possibly damaging	Het
Flt1	A	T	5: 147,678,239	I299N	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016		probably null	Het
Gns	A	G	10: 121,376,706	Y191C	probably damaging	Het
Grin2a	T	C	16: 9,644,199	T690A	possibly damaging	Het
Gsk3b	C	T	16: 38,089,401		probably benign	Het
Igsf10	A	G	3: 59,325,579	V1911A	probably benign	Het
Inpp5a	T	C	7: 139,511,453	Y118H	probably benign	Het
Kmt2a	A	G	9: 44,841,062	V1413A	unknown	Het
Mettl9	T	A	7: 121,057,217	V190E	probably damaging	Het
Mrps9	T	C	1: 42,896,098	L188P	probably benign	Het
Myo9a	A	T	9: 59,870,436	R1158S	possibly damaging	Het
Nacad	T	G	11: 6,598,621	Q1371P	probably benign	Het
Ncoa1	T	C	12: 4,294,987	M787V	probably benign	Het
Noxred1	A	T	12: 87,227,081	I62K	probably benign	Het
Olfr1390	A	G	11: 49,341,399	Y289C	probably damaging	Het
Olfr1532-ps1	T	A	7: 106,915,087	D296E	possibly damaging	Het
Olfr350	A	T	2: 36,850,304	H86L	probably benign	Het
Olfr646	A	G	7: 104,106,450	Y57C	probably damaging	Het
Otud6b	A	G	4: 14,818,185	Y239H	probably damaging	Het
Pank1	A	G	19: 34,840,966	Y233H	probably damaging	Het
Pccb	G	T	9: 100,995,592	D286E	probably benign	Het
Plek	A	C	11: 16,990,121	L196R	probably benign	Het
Pou6f2	T	C	13: 18,125,346	H576R		Het
Rbm47	T	A	5: 66,027,011	Y83F	probably damaging	Het
Rbm6	A	T	9: 107,787,850	Y787N	probably damaging	Het
Slc8a2	C	A	7: 16,134,494	A217E	probably damaging	Het
Suox	G	A	10: 128,671,295	A288V	probably damaging	Het
Tbccd1	T	C	16: 22,822,123	I501M	probably damaging	Het
Tjp2	C	A	19: 24,098,129	G1042*	probably null	Het
Tmtc2	T	C	10: 105,413,407	Y155C	probably damaging	Het
Usp7	T	C	16: 8,698,495	N600S	probably benign	Het
Zer1	T	C	2: 30,101,120	I699V	probably damaging	Het
Zfp142	A	G	1: 74,579,528	F227S	probably damaging	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
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
R4982:Igsf3	UTSW	3	101435667	missense	probably benign	0.42
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
X0027:Igsf3	UTSW	3	101435645	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATCCCAAGCAAGTGTCAG -3'
(R):5'- GAGACGAAAGGTGCTTCTCC -3'

Sequencing Primer
(F):5'- TCCCTCCATGGGAACATT -3'
(R):5'- AAAGGTGCTTCTCCCCAGC -3'

Posted On

2019-06-07