Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Igsf3'

227203

Institutional Source

Beutler Lab

Gene Symbol

Igsf3

Ensembl Gene

ENSMUSG00000042035

Gene Name

immunoglobulin superfamily, member 3

Synonyms

1700016K10Rik, 4833439O17Rik, 2810035F16Rik

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101377083-101463059 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101439515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 609 (T609A)

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: T589A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: T589A

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: T609A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: T609A

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: 98.6%
10x: 97.4%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 63,898,737	R272P	possibly damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ablim3	A	T	18: 61,857,088	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Adamts13	C	A	2: 27,005,425	T1176N	probably benign	Het
Adgre5	T	C	8: 83,727,804	T357A	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,119,636	V310A	probably benign	Het
Bnipl	C	T	3: 95,244,211	G232E	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Cacna1s	G	A	1: 136,079,504	V173I	probably benign	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chrdl1	T	C	X: 143,303,418	I231V	probably benign	Het
Ciita	C	T	16: 10,518,353	T958I	probably benign	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,101,741	D240G	probably damaging	Het
Ddx58	A	T	4: 40,224,069		probably null	Het
Dlgap1	C	T	17: 70,662,770	R524C	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,275,252	M453V	probably benign	Het
Ednrb	G	T	14: 103,817,099	N432K	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Fez1	A	G	9: 36,867,945	K306R	probably benign	Het
Fmo4	A	G	1: 162,809,887	V12A	probably benign	Het
Fpgt	T	C	3: 155,087,874	Y172C	probably damaging	Het
Fsip2	T	A	2: 83,008,815	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477	R205*	probably null	Het
Grik5	A	T	7: 25,015,313	M752K	possibly damaging	Het
Herc2	A	G	7: 56,226,964	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,592,545	D439V	probably damaging	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
Lgi2	A	G	5: 52,538,505	S371P	probably damaging	Het
March3	A	T	18: 56,811,853	V56E	possibly damaging	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,325,006	S683P	probably damaging	Het
Olfr1260	C	A	2: 89,978,213	T145K	probably benign	Het
Olfr1454	A	T	19: 13,063,680	M90L	probably benign	Het
Olfr527	T	C	7: 140,336,653	S264P	possibly damaging	Het
Onecut3	T	G	10: 80,495,014	L3V	unknown	Het
Otogl	C	T	10: 107,781,043	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,430,262	V128A	possibly damaging	Het
Pcnx2	A	T	8: 125,761,742	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,158,451	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,787,348		probably null	Het
Prune1	C	T	3: 95,255,408	R318Q	probably benign	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Psg27	A	G	7: 18,565,009	L129P	probably benign	Het
Psmc6	A	G	14: 45,329,866	K7E	possibly damaging	Het
Reln	A	T	5: 21,919,177	V2777E	probably damaging	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Slc5a5	C	T	8: 70,892,439	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smg1	T	C	7: 118,163,166		probably benign	Het
Smurf2	T	A	11: 106,841,769	Q335L	probably benign	Het
Sspo	A	T	6: 48,473,517	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syt1	A	G	10: 108,583,972	I276T	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar9	A	T	10: 24,108,979	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,882,965	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,458,867	T1091A	probably benign	Het
Ttn	G	T	2: 76,937,776	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,779,571		probably null	Het
Ube3c	A	G	5: 29,635,640	E671G	probably benign	Het
Upf3a	A	G	8: 13,785,850	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,275,072	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,922,452	R549*	probably null	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp747	T	A	7: 127,373,970	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,289,382	Q161L	unknown	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
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
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'- AGATGCTGTCCCTGGTTCATG -3'
(R):5'- GCCAGCCTTGTCCATGTATTG -3'

Sequencing Primer
(F):5'- GTCTCTGCTCTCCCTACAGAAACG -3'
(R):5'- GTATTGTTGTAATTCCTTCGCCACAG -3'

Posted On

2014-09-17