Mutagenetix > Incidental Mutation

Incidental Mutation 'R6815:Igsf11'

537305

Institutional Source

Beutler Lab

Gene Symbol

Igsf11

Ensembl Gene

ENSMUSG00000022790

Gene Name

immunoglobulin superfamily, member 11

Synonyms

1700025L02Rik, BT-IgSF

MMRRC Submission

044927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6815 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38713033-38847521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38829243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 46 (I46V)

Ref Sequence

ENSEMBL: ENSMUSP00000110354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023478] [ENSMUST00000114706]

AlphaFold

P0C673

Predicted Effect

probably benign
Transcript: ENSMUST00000023478
AA Change: I105V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023478
Gene: ENSMUSG00000022790
AA Change: I105V

Domain	Start	End	E-Value	Type
IG	29	143	4.32e-8	SMART
IGc2	156	222	2.54e-5	SMART
transmembrane domain	240	262	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC
low complexity region	301	319	N/A	INTRINSIC
Blast:DEXDc	355	425	8e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114706
AA Change: I46V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110354
Gene: ENSMUSG00000022790
AA Change: I46V

Domain	Start	End	E-Value	Type
IG_like	11	84	3.12e1	SMART
IGc2	97	163	2.54e-5	SMART
transmembrane domain	181	203	N/A	INTRINSIC
low complexity region	212	227	N/A	INTRINSIC
low complexity region	242	260	N/A	INTRINSIC
Blast:DEXDc	296	366	5e-14	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disrupted synaptic transmission and plasticity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	G	14: 54,828,610 (GRCm39)	N297T	probably damaging	Het
6820408C15Rik	A	G	2: 152,282,975 (GRCm39)	N251S	probably benign	Het
Abcc5	T	C	16: 20,152,380 (GRCm39)	T1389A	probably damaging	Het
Acad11	A	G	9: 103,958,526 (GRCm39)	T265A	probably benign	Het
Ace3	C	T	11: 105,888,084 (GRCm39)	Q302*	probably null	Het
Aip	A	T	19: 4,166,066 (GRCm39)	H128Q	probably benign	Het
Akr1b7	A	T	6: 34,389,269 (GRCm39)		probably null	Het
Arid4a	T	A	12: 71,063,856 (GRCm39)		probably null	Het
Armh1	T	A	4: 117,087,134 (GRCm39)	H177L	probably damaging	Het
Aspm	A	G	1: 139,407,880 (GRCm39)	T2256A	probably benign	Het
Bco1	A	T	8: 117,840,261 (GRCm39)	M260L	probably benign	Het
Ccdc110	A	G	8: 46,395,024 (GRCm39)	N305S	probably benign	Het
Ccdc158	T	A	5: 92,760,345 (GRCm39)	Y1035F	probably damaging	Het
Cd180	C	T	13: 102,841,937 (GRCm39)	L328F	probably damaging	Het
Cntrl	T	C	2: 35,039,503 (GRCm39)	L1121P	probably damaging	Het
Cyp2u1	A	C	3: 131,091,659 (GRCm39)	I287S	probably damaging	Het
Dnah3	C	T	7: 119,570,950 (GRCm39)	M2195I	probably benign	Het
Dnajc21	C	T	15: 10,447,777 (GRCm39)		probably null	Het
Dock10	C	T	1: 80,516,576 (GRCm39)	V1398M	possibly damaging	Het
Dpy19l3	T	A	7: 35,449,272 (GRCm39)	I44F	possibly damaging	Het
Dst	C	A	1: 34,267,450 (GRCm39)	T4964K	possibly damaging	Het
Ercc4	T	C	16: 12,941,299 (GRCm39)	I139T	probably damaging	Het
Gpr4	T	A	7: 18,956,560 (GRCm39)	F161I	probably damaging	Het
Gucy2e	A	C	11: 69,122,827 (GRCm39)	L516R	possibly damaging	Het
Hdhd5	A	G	6: 120,498,170 (GRCm39)	V143A	probably benign	Het
Heatr4	T	A	12: 84,026,501 (GRCm39)	Q252L	probably damaging	Het
Heatr5a	T	G	12: 52,002,291 (GRCm39)	D215A	possibly damaging	Het
Hipk2	G	T	6: 38,795,777 (GRCm39)	A164D	probably damaging	Het
Iqgap1	C	T	7: 80,416,632 (GRCm39)		probably null	Het
Lrig1	A	G	6: 94,602,010 (GRCm39)	L281P	probably damaging	Het
Or10p22	A	G	10: 128,826,191 (GRCm39)	S137G	probably benign	Het
Or7g32	G	T	9: 19,389,061 (GRCm39)	H159N	probably benign	Het
Pcdha7	A	G	18: 37,108,174 (GRCm39)	T400A	probably damaging	Het
Pde5a	A	G	3: 122,618,573 (GRCm39)	T629A	probably benign	Het
Pkhd1l1	A	G	15: 44,426,051 (GRCm39)	D3204G	probably damaging	Het
Prkd2	T	C	7: 16,577,718 (GRCm39)	F57S	probably benign	Het
Prr15l	T	C	11: 96,825,433 (GRCm39)	V21A	probably damaging	Het
Rag2	T	A	2: 101,460,900 (GRCm39)	N403K	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rtl1	C	A	12: 109,560,937 (GRCm39)	D301Y	probably damaging	Het
Septin14	T	C	5: 129,770,051 (GRCm39)	N215S	probably benign	Het
Sin3a	T	A	9: 57,024,824 (GRCm39)	D1061E	probably benign	Het
Skint5	T	A	4: 113,574,324 (GRCm39)		probably null	Het
Stox2	A	T	8: 47,646,136 (GRCm39)	D441E	probably damaging	Het
Tmem52b	G	A	6: 129,493,705 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,292 (GRCm39)	E62G	probably benign	Het
Trim54	G	T	5: 31,291,424 (GRCm39)	V182L	probably damaging	Het
Trmt6	A	C	2: 132,651,778 (GRCm39)	V214G	probably damaging	Het
Ttc21b	T	C	2: 66,057,134 (GRCm39)	S613G	probably benign	Het
Ttll4	C	A	1: 74,718,508 (GRCm39)	R120S	possibly damaging	Het
Wdr41	A	T	13: 95,154,682 (GRCm39)	K354N	probably damaging	Het
Zfp652	A	T	11: 95,640,230 (GRCm39)	K52*	probably null	Het

Other mutations in Igsf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Igsf11	APN	16	38,829,279 (GRCm39)	missense	probably damaging	1.00
R0139:Igsf11	UTSW	16	38,829,240 (GRCm39)	missense	probably damaging	1.00
R0348:Igsf11	UTSW	16	38,829,179 (GRCm39)	missense	probably benign	0.01
R1268:Igsf11	UTSW	16	38,845,216 (GRCm39)	missense	probably benign	0.01
R4494:Igsf11	UTSW	16	38,831,703 (GRCm39)	missense	possibly damaging	0.46
R4791:Igsf11	UTSW	16	38,845,226 (GRCm39)	missense	probably damaging	0.99
R5387:Igsf11	UTSW	16	38,842,785 (GRCm39)	missense	probably damaging	1.00
R5572:Igsf11	UTSW	16	38,845,294 (GRCm39)	missense	probably damaging	0.97
R6150:Igsf11	UTSW	16	38,843,711 (GRCm39)	missense	probably damaging	0.96
R6340:Igsf11	UTSW	16	38,829,336 (GRCm39)	missense	probably benign
R7521:Igsf11	UTSW	16	38,829,274 (GRCm39)	missense	probably damaging	1.00
R7533:Igsf11	UTSW	16	38,829,236 (GRCm39)	missense	probably benign	0.07
R7732:Igsf11	UTSW	16	38,829,160 (GRCm39)	missense	probably damaging	0.99
R7838:Igsf11	UTSW	16	38,827,565 (GRCm39)	missense	possibly damaging	0.65
R8305:Igsf11	UTSW	16	38,827,586 (GRCm39)	missense	probably damaging	1.00
R8842:Igsf11	UTSW	16	38,829,243 (GRCm39)	missense	probably benign	0.02
R9732:Igsf11	UTSW	16	38,843,652 (GRCm39)	missense	probably benign	0.16
X0026:Igsf11	UTSW	16	38,827,648 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GCTGTCACAAGAAGTTGTCCAC -3'
(R):5'- CTGTGCATGAGAAAGCAAGC -3'

Sequencing Primer
(F):5'- ACCCTGAGGAATTAAAAATTTCATCC -3'
(R):5'- CAGGGAAGGAACTCAGACCC -3'

Posted On

2018-10-18