Mutagenetix > Incidental Mutation

Incidental Mutation 'R5572:Igsf11'

435750

Institutional Source

Beutler Lab

Gene Symbol

Igsf11

Ensembl Gene

ENSMUSG00000022790

Gene Name

immunoglobulin superfamily, member 11

Synonyms

1700025L02Rik, BT-IgSF

MMRRC Submission

043266-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38713033-38847521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38845294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 283 (R283C)

Ref Sequence

ENSEMBL: ENSMUSP00000110354 (fasta)

Gene Model

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

AlphaFold

P0C673

Predicted Effect

probably damaging
Transcript: ENSMUST00000023478
AA Change: R342C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023478
Gene: ENSMUSG00000022790
AA Change: R342C

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 damaging
Transcript: ENSMUST00000114706
AA Change: R283C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110354
Gene: ENSMUSG00000022790
AA Change: R283C

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (64/64)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,765,108 (GRCm39)		probably null	Het
Abcd4	T	C	12: 84,653,050 (GRCm39)	D380G	probably benign	Het
Actr3b	T	A	5: 26,014,886 (GRCm39)	D68E	probably benign	Het
Apol10a	T	C	15: 77,372,834 (GRCm39)	S157P	probably damaging	Het
Arap3	A	T	18: 38,124,119 (GRCm39)	I327N	probably damaging	Het
Arnt	G	T	3: 95,382,015 (GRCm39)	V198L	possibly damaging	Het
Baiap3	T	A	17: 25,470,449 (GRCm39)	D86V	possibly damaging	Het
Bcl9l	G	T	9: 44,412,095 (GRCm39)	R27L	possibly damaging	Het
Bltp2	A	T	11: 78,155,393 (GRCm39)	D167V	probably damaging	Het
C1qc	T	C	4: 136,619,773 (GRCm39)	Y34C	probably benign	Het
C1rb	T	C	6: 124,557,758 (GRCm39)	S632P	probably benign	Het
C3	A	G	17: 57,531,673 (GRCm39)	S284P	probably damaging	Het
Cfap44	T	G	16: 44,301,668 (GRCm39)	V1802G	possibly damaging	Het
Cfhr1	A	G	1: 139,484,165 (GRCm39)	V117A	possibly damaging	Het
Clca3b	T	C	3: 144,533,070 (GRCm39)	D654G	probably damaging	Het
Col17a1	A	T	19: 47,639,168 (GRCm39)	S1126T	probably benign	Het
Cts3	T	A	13: 61,712,782 (GRCm39)	I313F	probably damaging	Het
Egfl7	T	C	2: 26,481,703 (GRCm39)	V6A	possibly damaging	Het
Eif2s3y	G	A	Y: 1,016,631 (GRCm39)	D272N	probably damaging	Het
Foxp4	A	G	17: 48,191,804 (GRCm39)	V111A	unknown	Het
Hmcn2	A	T	2: 31,304,537 (GRCm39)		probably null	Het
Hmcn2	G	A	2: 31,304,538 (GRCm39)		probably null	Het
Il1a	A	G	2: 129,149,838 (GRCm39)	Y21H	possibly damaging	Het
Il6ra	A	T	3: 89,778,589 (GRCm39)	V420D	probably damaging	Het
Kdm5a	T	C	6: 120,389,336 (GRCm39)	V921A	possibly damaging	Het
Kirrel3	G	A	9: 34,912,244 (GRCm39)	A196T	probably damaging	Het
Klra1	T	A	6: 130,349,802 (GRCm39)	D212V	possibly damaging	Het
N4bp2l2	G	A	5: 150,585,755 (GRCm39)	T75I	probably benign	Het
Niban1	T	C	1: 151,584,941 (GRCm39)	S513P	probably benign	Het
Nnmt	A	G	9: 48,503,447 (GRCm39)	L193P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ntm	A	G	9: 28,925,512 (GRCm39)	I191T	probably damaging	Het
Or2ak5	A	G	11: 58,611,055 (GRCm39)	V273A	probably benign	Het
Or52d13	A	C	7: 103,109,905 (GRCm39)	L170R	probably benign	Het
Or52h7	A	T	7: 104,214,201 (GRCm39)	T258S	probably benign	Het
Pam	A	C	1: 97,782,469 (GRCm39)		probably benign	Het
Pomk	T	A	8: 26,473,218 (GRCm39)	H245L	possibly damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rasip1	G	T	7: 45,286,153 (GRCm39)	R792L	probably benign	Het
Ret	T	C	6: 118,132,392 (GRCm39)	Y1016C	probably damaging	Het
Rhbdd1	A	T	1: 82,318,531 (GRCm39)	N138I	possibly damaging	Het
Snx13	T	G	12: 35,153,119 (GRCm39)	V383G	probably damaging	Het
Syt3	A	G	7: 44,040,142 (GRCm39)	H125R	probably benign	Het
Tlr6	A	T	5: 65,112,361 (GRCm39)	L182Q	probably damaging	Het
Tlr9	T	C	9: 106,102,836 (GRCm39)	V709A	possibly damaging	Het
Tmprss6	T	C	15: 78,326,622 (GRCm39)	Y655C	probably damaging	Het
Ttn	A	T	2: 76,683,972 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Ube3b	G	A	5: 114,544,240 (GRCm39)	D546N	probably damaging	Het
Ugt2b36	A	G	5: 87,237,341 (GRCm39)	V188A	possibly damaging	Het
Usp29	A	G	7: 6,965,191 (GRCm39)	I345V	probably benign	Het
Vmn2r78	A	G	7: 86,564,720 (GRCm39)	K55R	probably benign	Het
Wdsub1	A	G	2: 59,693,051 (GRCm39)	F288L	possibly damaging	Het
Zan	C	T	5: 137,392,693 (GRCm39)	V4601M	unknown	Het
Zbtb8b	T	C	4: 129,322,334 (GRCm39)	K376E	probably damaging	Het
Zfp619	A	T	7: 39,184,663 (GRCm39)	Y231F	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
R6150:Igsf11	UTSW	16	38,843,711 (GRCm39)	missense	probably damaging	0.96
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'- TCAGAGAGGATGATCTTCCCC -3'
(R):5'- CAGTCATCCTATACCAGGGACC -3'

Sequencing Primer
(F):5'- GAGAGGATGATCTTCCCCCTAAATG -3'
(R):5'- GCTCCAGGGTCATTTGGCTTAC -3'

Posted On

2016-10-24