Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Igsf11'

489213

Institutional Source

Beutler Lab

Gene Symbol

Igsf11

Ensembl Gene

ENSMUSG00000022790

Gene Name

immunoglobulin superfamily, member 11

Synonyms

1700025L02Rik, BT-IgSF

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38713033-38847521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38843711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 275 (E275K)

Ref Sequence

ENSEMBL: ENSMUSP00000023478 (fasta)

Gene Model

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

AlphaFold

P0C673

Predicted Effect

probably damaging
Transcript: ENSMUST00000023478
AA Change: E275K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023478
Gene: ENSMUSG00000022790
AA Change: E275K

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

possibly damaging
Transcript: ENSMUST00000114706
AA Change: E216K

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110354
Gene: ENSMUSG00000022790
AA Change: E216K

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,104,334 (GRCm39)	T74A	probably benign	Het
Arhgef1	T	C	7: 24,618,782 (GRCm39)		probably null	Het
Art1	C	G	7: 101,756,294 (GRCm39)	R162G	probably benign	Het
Boll	T	A	1: 55,309,812 (GRCm39)	I280F	possibly damaging	Het
Cep44	T	C	8: 56,992,840 (GRCm39)	E258G	probably benign	Het
Cutc	T	A	19: 43,748,328 (GRCm39)	V75E	probably damaging	Het
Dtx1	T	C	5: 120,819,428 (GRCm39)	K590R	probably damaging	Het
Eps8	A	T	6: 137,494,172 (GRCm39)	D295E	probably damaging	Het
Erc2	C	A	14: 27,863,248 (GRCm39)	S491Y	probably damaging	Het
F2rl3	G	T	8: 73,489,366 (GRCm39)	A198S	probably benign	Het
Fam83b	G	A	9: 76,399,639 (GRCm39)	T488M	probably damaging	Het
Fitm2	A	G	2: 163,311,994 (GRCm39)	L73P	probably damaging	Het
Fxyd1	T	C	7: 30,754,228 (GRCm39)		probably null	Het
Gm17186	T	C	14: 51,918,183 (GRCm39)		noncoding transcript	Het
Hivep3	C	A	4: 119,591,274 (GRCm39)	S94*	probably null	Het
Ifna1	T	A	4: 88,768,349 (GRCm39)	M9K	probably null	Het
Itga1	G	A	13: 115,104,769 (GRCm39)	L1086F	probably benign	Het
Itgav	T	C	2: 83,606,780 (GRCm39)	S374P	probably benign	Het
Jmy	A	T	13: 93,577,641 (GRCm39)	N842K	probably benign	Het
Kcnh6	G	A	11: 105,911,557 (GRCm39)	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,989,088 (GRCm39)	I823N	probably damaging	Het
Kif26b	T	C	1: 178,743,111 (GRCm39)	L1069P	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,287,902 (GRCm39)		probably benign	Het
Map10	G	A	8: 126,398,328 (GRCm39)	D574N	probably damaging	Het
Mau2	A	T	8: 70,472,487 (GRCm39)	H565Q	probably benign	Het
Myb	A	G	10: 21,017,668 (GRCm39)	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,606,214 (GRCm39)	G15V	probably null	Het
Or10k2	G	A	8: 84,267,782 (GRCm39)	C3Y	probably benign	Het
Or3a4	A	C	11: 73,945,145 (GRCm39)	S147A	probably benign	Het
Or6c210	A	G	10: 129,495,803 (GRCm39)	I43V	probably benign	Het
Or7d11	A	T	9: 19,966,170 (GRCm39)	N78K	probably benign	Het
Otog	A	G	7: 45,913,483 (GRCm39)	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,100,045 (GRCm39)	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,942,137 (GRCm39)		probably null	Het
Pomk	A	G	8: 26,473,284 (GRCm39)	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Serpina1e	A	G	12: 103,917,066 (GRCm39)	V201A	probably benign	Het
Six5	C	T	7: 18,831,446 (GRCm39)	P646S	probably benign	Het
Slc17a9	A	G	2: 180,379,421 (GRCm39)	I298V	probably benign	Het
Slc37a2	G	T	9: 37,149,643 (GRCm39)	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,222,579 (GRCm39)	F525I	probably benign	Het
Slit2	A	T	5: 48,461,516 (GRCm39)	D1504V	probably damaging	Het
Srcap	T	A	7: 127,134,000 (GRCm39)	M907K	probably damaging	Het
Sspo	T	C	6: 48,463,313 (GRCm39)	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,271,501 (GRCm39)	N376K	possibly damaging	Het
Tekt3	A	T	11: 62,985,483 (GRCm39)	T430S	possibly damaging	Het
Tex2	A	T	11: 106,457,906 (GRCm39)	V508D	probably benign	Het
Tmem184c	G	T	8: 78,323,069 (GRCm39)	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,459,874 (GRCm39)	R42*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vangl1	T	C	3: 102,091,835 (GRCm39)	T84A	probably damaging	Het
Vgll3	T	A	16: 65,625,064 (GRCm39)		probably null	Het
Vmn1r61	T	A	7: 5,613,678 (GRCm39)	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,510,269 (GRCm39)	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,789,555 (GRCm39)	D727E	probably damaging	Het
Vps18	T	A	2: 119,128,073 (GRCm39)	Y965*	probably null	Het
Zfp521	A	T	18: 13,977,135 (GRCm39)	C1093S	probably damaging	Het
Zfp971	A	C	2: 177,675,247 (GRCm39)	H282P	probably benign	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
R6340:Igsf11	UTSW	16	38,829,336 (GRCm39)	missense	probably benign
R6815:Igsf11	UTSW	16	38,829,243 (GRCm39)	missense	probably benign	0.02
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'- GCATAGCATGTACCATTCATCTG -3'
(R):5'- AGGCAAGCTCTTCATCCTAC -3'

Sequencing Primer
(F):5'- CACCGGTGCTGTTCTTAT -3'
(R):5'- TCCTACTTAGATTCATGAAGGATCTC -3'

Posted On

2017-10-10