Mutagenetix > Incidental Mutation

Incidental Mutation 'R9401:Igsf3'

711201

Institutional Source

Beutler Lab

Gene Symbol

Igsf3

Ensembl Gene

ENSMUSG00000042035

Gene Name

immunoglobulin superfamily, member 3

Synonyms

1700016K10Rik, 2810035F16Rik, 4833439O17Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9401 (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 101333075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 118 (Y118N)

Ref Sequence

ENSEMBL: ENSMUSP00000048900 (fasta)

Gene Model

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

AlphaFold

Q6ZQA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043983
AA Change: Y118N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: Y118N

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: Y118N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: Y118N

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: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,785 (GRCm39)	D850G	probably benign	Het
Abcc9	T	A	6: 142,543,836 (GRCm39)	T1480S	possibly damaging	Het
Adgrb3	C	A	1: 25,592,783 (GRCm39)	V335F	probably damaging	Het
Agfg1	C	A	1: 82,859,958 (GRCm39)	A275D	probably benign	Het
Alms1	T	A	6: 85,655,001 (GRCm39)	C2713*	probably null	Het
Atp8a1	G	A	5: 67,906,492 (GRCm39)	A474V		Het
Baz1a	C	A	12: 54,963,339 (GRCm39)	S918I	probably damaging	Het
Bcl2l12	G	T	7: 44,643,674 (GRCm39)	T120K	possibly damaging	Het
Bcl6	G	T	16: 23,791,107 (GRCm39)	Q416K	possibly damaging	Het
Cdhr1	T	A	14: 36,820,055 (GRCm39)	I16F	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cilp	T	C	9: 65,185,381 (GRCm39)	V492A	probably damaging	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Crppa	T	C	12: 36,552,073 (GRCm39)	V309A	probably benign	Het
Ctcfl	T	G	2: 172,947,881 (GRCm39)	T479P	probably damaging	Het
Dlx6	A	C	6: 6,863,581 (GRCm39)	M68L	probably benign	Het
Dnah7a	C	A	1: 53,568,026 (GRCm39)	V1857F	probably benign	Het
Dpy19l4	A	G	4: 11,265,806 (GRCm39)	V714A	probably benign	Het
Elovl7	T	A	13: 108,419,188 (GRCm39)	N273K	probably benign	Het
Fbxo22	A	G	9: 55,130,628 (GRCm39)	K299R	probably benign	Het
Fig4	A	G	10: 41,143,733 (GRCm39)	V242A	probably benign	Het
Fmo9	A	T	1: 166,505,189 (GRCm39)	M68K	probably damaging	Het
Fry	T	A	5: 150,302,403 (GRCm39)	Y537N	probably damaging	Het
Fryl	C	T	5: 73,222,563 (GRCm39)	W2006*	probably null	Het
Fzd8	T	A	18: 9,213,205 (GRCm39)	C96S	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,050,535 (GRCm39)	D272G	possibly damaging	Het
Gzmf	A	T	14: 56,448,813 (GRCm39)	M1K	probably null	Het
Hipk1	T	C	3: 103,685,295 (GRCm39)	T107A	probably benign	Het
Hsd3b9	T	G	3: 98,363,819 (GRCm39)	T9P	probably damaging	Het
Ighe	C	T	12: 113,233,107 (GRCm39)	C438Y		Het
Igkv4-50	T	A	6: 69,677,967 (GRCm39)	R46W		Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Jph3	A	G	8: 122,511,854 (GRCm39)	E614G	probably damaging	Het
Klk1b8	T	A	7: 43,603,674 (GRCm39)	D170E	probably benign	Het
Ly6e	A	T	15: 74,830,153 (GRCm39)	K36*	probably null	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Med13l	T	A	5: 118,883,089 (GRCm39)	M1316K	probably benign	Het
Or5c1	T	C	2: 37,222,293 (GRCm39)	V178A	possibly damaging	Het
Or6c76b	A	G	10: 129,693,298 (GRCm39)	R304G	probably benign	Het
Or8u3-ps	A	T	2: 85,952,368 (GRCm39)	I34F	possibly damaging	Het
Pih1d2	T	A	9: 50,529,905 (GRCm39)	C45S	probably damaging	Het
Pik3r2	G	A	8: 71,223,737 (GRCm39)	S318L	possibly damaging	Het
Pknox1	T	C	17: 31,802,752 (GRCm39)	I9T	probably benign	Het
Pknox2	T	C	9: 36,835,041 (GRCm39)	I143V	probably damaging	Het
Polr1d	A	G	5: 147,015,488 (GRCm39)	Y57C	probably damaging	Het
Pum3	A	T	19: 27,376,336 (GRCm39)	D527E	probably benign	Het
Rars2	T	A	4: 34,654,819 (GRCm39)	H374Q	probably damaging	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rbl1	T	A	2: 157,016,742 (GRCm39)	H619L	possibly damaging	Het
Scamp4	T	C	10: 80,448,238 (GRCm39)	V153A	probably benign	Het
Sec23b	T	G	2: 144,420,286 (GRCm39)	I450S	probably benign	Het
Slc35b2	A	G	17: 45,877,910 (GRCm39)	I297V	probably benign	Het
Slc4a4	C	T	5: 89,327,525 (GRCm39)	T654I	probably damaging	Het
Slc6a5	T	A	7: 49,601,185 (GRCm39)	M662K	probably damaging	Het
Smarcad1	T	C	6: 65,071,321 (GRCm39)	Y589H	probably benign	Het
Spata31d1e	T	C	13: 59,890,012 (GRCm39)	T603A	probably benign	Het
Stab1	A	T	14: 30,883,069 (GRCm39)	F374I	probably benign	Het
Stat5a	C	T	11: 100,756,254 (GRCm39)	T158M	possibly damaging	Het
Trpc3	A	T	3: 36,675,503 (GRCm39)	Y878*	probably null	Het
Ubr1	T	A	2: 120,765,765 (GRCm39)	T491S	probably benign	Het
Uggt1	C	T	1: 36,255,212 (GRCm39)		probably null	Het
Ugt1a6a	T	A	1: 88,066,882 (GRCm39)	Y229*	probably null	Het
Vmn1r225	G	A	17: 20,722,911 (GRCm39)	W117*	probably null	Het
Vmn1r225	A	C	17: 20,722,912 (GRCm39)	K118Q	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r116	T	C	17: 23,620,566 (GRCm39)	S767P	probably damaging	Het
Wdr90	AGAC	AGACGAC	17: 26,064,750 (GRCm39)		probably benign	Het
Ythdf3	C	T	3: 16,258,659 (GRCm39)	P280S	probably damaging	Het
Zbbx	A	G	3: 75,019,390 (GRCm39)	S107P	probably benign	Het
Zdhhc7	A	T	8: 120,813,425 (GRCm39)	V128E	probably benign	Het
Zfp235	A	G	7: 23,841,551 (GRCm39)	S657G	probably damaging	Het
Zfp442	T	A	2: 150,251,615 (GRCm39)	I96F	possibly damaging	Het
Zfp84	G	A	7: 29,476,297 (GRCm39)	E330K	probably damaging	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
R7310:Igsf3	UTSW	3	101,338,895 (GRCm39)	missense	probably benign	0.01
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
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'- CTGAGCAGAACTTCCAGTGG -3'
(R):5'- GATTCATGGTCACTCATGCTCC -3'

Sequencing Primer
(F):5'- GCAGAACTTCCAGTGGTCCATTTAC -3'
(R):5'- CCCTCATGCGGTTTTCTAAGGTG -3'

Posted On

2022-05-16