Mutagenetix > Incidental Mutation

Incidental Mutation 'R1766:Igsf3'

194346

Institutional Source

Beutler Lab

Gene Symbol

Igsf3

Ensembl Gene

ENSMUSG00000042035

Gene Name

immunoglobulin superfamily, member 3

Synonyms

1700016K10Rik, 4833439O17Rik, 2810035F16Rik

MMRRC Submission

039798-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101377083-101463059 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101431282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 304 (L304Q)

Ref Sequence

ENSEMBL: ENSMUSP00000141823 (fasta)

Gene Model

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

AlphaFold

Q6ZQA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043983
AA Change: L304Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: L304Q

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 damaging
Transcript: ENSMUST00000195164
AA Change: L304Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: L304Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196233

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933403O08Rik	T	C	X: 112,241,085	Y22H	probably benign	Het
Afg1l	T	C	10: 42,454,495	T59A	probably benign	Het
Ankrd17	T	A	5: 90,264,797	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,638,638	S68N	probably benign	Het
Arhgap31	A	G	16: 38,625,590	I131T	probably damaging	Het
Arhgef10	A	T	8: 14,979,836	I874F	probably damaging	Het
Arl5b	T	C	2: 15,069,837	V43A	probably benign	Het
BC051665	G	A	13: 60,785,040	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,306	D69G	probably damaging	Het
Chd6	G	A	2: 160,966,639	L1552F	probably damaging	Het
Chrd	A	G	16: 20,737,441	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,693,972	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526		probably null	Het
Ehbp1l1	A	G	19: 5,716,406	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,786,891	E182K	probably damaging	Het
Fam170b	A	T	14: 32,835,886	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,462,131	P760L	probably damaging	Het
Gabra5	A	T	7: 57,508,048	L6H	probably benign	Het
Gabrq	G	A	X: 72,833,383	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm7334	T	A	17: 50,698,978	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,325,383	A286T	probably damaging	Het
Gsta4	C	A	9: 78,204,329	Y79*	probably null	Het
Hcn1	T	A	13: 117,656,734	V174D	probably benign	Het
Hic1	G	T	11: 75,165,794	C756*	probably null	Het
Hivep3	C	T	4: 120,096,671	T728I	probably benign	Het
Ice1	T	C	13: 70,604,442	E1175G	possibly damaging	Het
Kpna6	T	C	4: 129,657,442	D90G	probably benign	Het
Krt73	C	T	15: 101,793,928	G500D	probably damaging	Het
Lama3	A	G	18: 12,402,062	K156E	probably damaging	Het
Mdm2	T	C	10: 117,696,022	K94E	probably damaging	Het
Mitf	T	C	6: 97,941,099	S26P	probably damaging	Het
Myh4	C	A	11: 67,256,295	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,073,114	V671E	probably benign	Het
Nop9	C	T	14: 55,752,134	A407V	possibly damaging	Het
Nrap	T	A	19: 56,335,042	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,778,518	C766S	probably damaging	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Olfr735	T	C	14: 50,346,220	Y43C	probably damaging	Het
Olfr768	T	C	10: 129,093,747	I76V	probably benign	Het
Olfr845	A	G	9: 19,338,858	T133A	probably benign	Het
Oog3	C	T	4: 144,159,122	G302D	possibly damaging	Het
Pdzph1	C	T	17: 58,973,752	V512I	probably benign	Het
Phf2	A	C	13: 48,819,557	S408A	unknown	Het
Pigk	T	G	3: 152,740,156	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,121,946	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,058,482	S253P	probably damaging	Het
Ptgfrn	A	T	3: 101,050,122	I712N	probably benign	Het
Rapgef2	A	T	3: 79,092,703	D579E	probably damaging	Het
Rims2	T	A	15: 39,462,580	D769E	probably damaging	Het
Rptor	T	A	11: 119,725,061	C134S	probably damaging	Het
S100a1	A	G	3: 90,511,292	F72L	probably damaging	Het
Scube1	T	A	15: 83,721,945	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,712,685	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,273,250	T397A	probably benign	Het
Siglece	G	A	7: 43,651,532	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,671,792	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,787,212	V156A	probably benign	Het
Smchd1	A	T	17: 71,391,379	V1134E	probably damaging	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,603,875	W326C	possibly damaging	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tiparp	A	T	3: 65,532,049	H80L	probably damaging	Het
Tmem71	T	A	15: 66,541,699	T175S	probably benign	Het
Tmem87b	T	A	2: 128,839,170	V338D	probably damaging	Het
Trdn	A	G	10: 33,364,008	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,815,020	S550T	probably benign	Het
Tufm	A	G	7: 126,490,472	D446G	probably benign	Het
Vipr1	A	T	9: 121,661,419	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,401,766	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,092,044	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,023,943		probably null	Het
Ywhae	T	C	11: 75,755,665	V119A	probably damaging	Het
Zfand5	A	G	19: 21,280,524	R199G	probably damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zrsr1	A	G	11: 22,973,637	D137G	probably benign	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
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
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'- GGCTTGGACTCAGATATCCTTGGC -3'
(R):5'- ACTTCTACTTACTGAGGGGCAGCAC -3'

Sequencing Primer
(F):5'- TCTCTCAAGATGAATACGGAGTC -3'
(R):5'- GTCTATGAACTCGCCAGTGAC -3'

Posted On

2014-05-23