Mutagenetix > Incidental Mutation

Incidental Mutation 'R1728:Ildr1'

198618

Institutional Source

Beutler Lab

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

MMRRC Submission

039760-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1728 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36693978-36726804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36708336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 48 (T48S)

Ref Sequence

ENSEMBL: ENSMUSP00000112539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023617] [ENSMUST00000089618] [ENSMUST00000119464]

AlphaFold

Q8CBR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023617
AA Change: T48S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: T48S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	29	165	2.34e-4	SMART
Pfam:LSR	166	213	3e-27	PFAM
low complexity region	255	268	N/A	INTRINSIC
low complexity region	424	472	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089618
AA Change: T48S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: T48S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	29	165	2.34e-4	SMART
Pfam:LSR	166	214	2.8e-27	PFAM
low complexity region	380	428	N/A	INTRINSIC
low complexity region	437	445	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119464
AA Change: T48S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: T48S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	29	165	2.34e-4	SMART
Pfam:LSR	166	214	3e-27	PFAM
low complexity region	255	268	N/A	INTRINSIC
low complexity region	424	472	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153802

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous inactivation of this gene leads to progressive cochlear hair cell degeneration and profound deafness. Mice homozygous for a gene trap allele also exhibit impaired lipid-induced cholecystokinin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 223 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,439,600		probably benign	Het
Aadat	A	G	8: 60,526,712	T203A	probably damaging	Het
Abca13	T	A	11: 9,249,680	F104L	probably benign	Het
Acox1	T	A	11: 116,198,283		probably null	Het
Adamts17	C	T	7: 67,149,956	R1060*	probably null	Het
Adgrg6	T	C	10: 14,439,782	T593A	probably damaging	Het
Ankrd12	G	T	17: 65,984,076	P1454Q	probably benign	Het
Ap2m1	T	A	16: 20,539,338	N35K	probably damaging	Het
Aspm	A	G	1: 139,473,574	I1111V	probably benign	Het
Atr	G	A	9: 95,897,581	V1331I	probably benign	Het
Bola1	C	T	3: 96,197,110	G56D	probably benign	Het
Brsk1	A	G	7: 4,704,219	D257G	probably damaging	Het
C4bp	C	G	1: 130,642,988	V284L	probably benign	Het
Cacna1s	T	C	1: 136,118,716	F1761S	probably benign	Het
Camsap2	C	T	1: 136,281,315	R802Q	probably benign	Het
Cbs	G	T	17: 31,620,949	A337E	probably benign	Het
Ccdc129	T	C	6: 55,968,541	F749S	probably benign	Het
Ccdc186	A	C	19: 56,809,220	H306Q	probably benign	Het
Ccdc93	C	T	1: 121,456,126	P192L	probably benign	Het
Ccdc93	T	C	1: 121,461,939	V237A	probably benign	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cd55	C	A	1: 130,459,633	A143S	probably benign	Het
Cdh19	C	A	1: 110,893,384	E541D	probably damaging	Het
Cdh7	C	G	1: 110,065,735	L307V	possibly damaging	Het
Cfh	C	T	1: 140,147,697	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,813,442	M265T	probably benign	Het
Cfhr2	A	C	1: 139,813,459	N259K	probably benign	Het
Chil1	C	T	1: 134,188,529	A250V	probably damaging	Het
Chrnb1	C	A	11: 69,785,762	D388Y	probably damaging	Het
Clcn1	T	A	6: 42,299,514	F360Y	possibly damaging	Het
Clgn	A	G	8: 83,423,030	S387G	probably damaging	Het
Cntnap5a	C	A	1: 116,455,004	L1001I	probably benign	Het
Cntnap5a	T	C	1: 116,455,101	L1033S	probably benign	Het
Cntnap5a	C	T	1: 116,455,143	T1047I	probably benign	Het
Coil	G	A	11: 88,973,976	V10I	probably damaging	Het
Col4a1	G	A	8: 11,212,712	P1256S	possibly damaging	Het
Copa	T	A	1: 172,111,987	F597Y	probably benign	Het
Crb1	T	C	1: 139,234,779	M1214V	probably benign	Het
Crb1	A	T	1: 139,237,622	H921Q	probably benign	Het
Crb1	G	A	1: 139,241,138	P881S	probably damaging	Het
Crb1	C	T	1: 139,242,995	G825R	probably damaging	Het
Crb1	C	T	1: 139,243,417	R684H	probably benign	Het
Crybg1	T	A	10: 44,004,019	Q391L	probably damaging	Het
Cspg4	G	T	9: 56,898,537	V2211L	probably benign	Het
Cxcr4	C	T	1: 128,589,277	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667	R147W	probably damaging	Het
Ddx59	T	C	1: 136,417,053	V154A	probably benign	Het
Dhx30	T	C	9: 110,098,751	H101R	probably damaging	Het
Dnah11	T	A	12: 117,916,931	D3818V	probably damaging	Het
Dnah17	C	T	11: 118,069,519	C2572Y	possibly damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Dsel	G	C	1: 111,859,994	T937S	probably benign	Het
Dstyk	C	T	1: 132,456,984	L739F	probably damaging	Het
Ehf	T	G	2: 103,273,906	T186P	possibly damaging	Het
En1	A	G	1: 120,603,621	S197G	unknown	Het
Etnk2	C	A	1: 133,365,587	D89E	probably benign	Het
Etnk2	G	T	1: 133,365,765	G149W	probably damaging	Het
Etnk2	C	T	1: 133,365,816	R166*	probably null	Het
Etnk2	G	A	1: 133,365,817	R166Q	probably benign	Het
Etnk2	T	A	1: 133,376,915	V292E	probably benign	Het
Fam187b	C	T	7: 30,989,020	Q268*	probably null	Het
Fam72a	T	C	1: 131,530,668	I56T	probably benign	Het
Fam72a	C	T	1: 131,538,895	T139M	probably benign	Het
Fat3	A	C	9: 15,996,315	V2797G	possibly damaging	Het
Fcamr	A	G	1: 130,804,569	R98G	probably benign	Het
Fcamr	A	C	1: 130,804,627	N117T	probably benign	Het
Fcamr	A	G	1: 130,811,580	I206V	probably benign	Het
Fcamr	G	A	1: 130,812,629	G262S	probably benign	Het
Fcamr	A	G	1: 130,812,692	I283V	probably benign	Het
Fcamr	T	C	1: 130,812,738	V298A	probably benign	Het
Fcamr	A	G	1: 130,812,809	M322V	probably benign	Het
Fcamr	C	T	1: 130,812,816	P324L	probably benign	Het
Fcamr	A	G	1: 130,814,597	N574D	probably benign	Het
Fcmr	A	G	1: 130,875,974	T172A	probably benign	Het
Fcmr	T	C	1: 130,878,269	S321P	probably benign	Het
Fut10	T	A	8: 31,201,390	S88T	probably benign	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Gli2	C	T	1: 118,868,087	A113T	possibly damaging	Het
Gli2	G	T	1: 119,002,044	H44Q	probably benign	Het
Glrx2	C	T	1: 143,739,740	A27V	possibly damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321		probably benign	Het
Gm5346	T	C	8: 43,625,583	N535D	probably damaging	Het
Gpr25	G	A	1: 136,260,710	P55L	probably benign	Het
Gse1	G	A	8: 120,568,253		probably benign	Het
Heatr4	T	C	12: 83,967,572	I630M	probably benign	Het
Hectd4	A	T	5: 121,301,839	Y1134F	possibly damaging	Het
Igfn1	G	A	1: 135,959,928	P2466L	probably damaging	Het
Igfn1	G	A	1: 135,968,199	A1543V	probably benign	Het
Igfn1	T	C	1: 135,970,411	S806G	probably benign	Het
Igfn1	C	T	1: 135,972,127	R482Q	probably benign	Het
Igfn1	C	T	1: 135,979,915	A231T	probably benign	Het
Igfn1	G	A	1: 135,982,475	R124W	probably benign	Het
Igfn1	T	C	1: 135,998,625	E29G	probably benign	Het
Igfn1	T	C	1: 135,998,683	I10V	unknown	Het
Ikbke	C	A	1: 131,265,937	A459S	probably benign	Het
Ikbke	T	C	1: 131,269,823	S447G	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	CTC	CTCTTC	1: 135,386,271		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kcnh5	T	C	12: 75,137,691	D86G	probably benign	Het
Kcnt2	G	A	1: 140,354,547	S90N	probably benign	Het
Kif14	A	G	1: 136,468,279	N108D	probably benign	Het
Kif14	A	G	1: 136,468,975	K340E	probably damaging	Het
Kif14	G	A	1: 136,478,365	A556T	probably benign	Het
Kif14	A	G	1: 136,490,332	S868G	probably benign	Het
Kif14	C	T	1: 136,503,431	L1189F	probably benign	Het
Kif14	T	C	1: 136,515,961	F1291L	probably benign	Het
Kif14	T	C	1: 136,525,783	V1433A	probably benign	Het
Kif1b	T	C	4: 149,187,722	T1541A	probably damaging	Het
Kif21b	A	G	1: 136,160,121	I983V	possibly damaging	Het
Kif26a	T	C	12: 112,176,785	S1158P	possibly damaging	Het
Kmt2d	A	G	15: 98,865,132	C279R	probably damaging	Het
Kpna3	T	A	14: 61,367,701	E499V	probably benign	Het
Krt16	T	C	11: 100,247,707	E205G	probably damaging	Het
Lad1	C	T	1: 135,827,381	P132S	possibly damaging	Het
Lad1	C	T	1: 135,828,023	R346C	probably damaging	Het
Lax1	T	C	1: 133,679,978	R342G	probably benign	Het
Lax1	T	C	1: 133,680,569	N145D	probably benign	Het
Lax1	G	A	1: 133,683,634	P67S	probably damaging	Het
Lgr6	C	T	1: 134,987,088	V641I	probably benign	Het
Lgr6	G	T	1: 134,990,635	H263N	probably benign	Het
Lgr6	C	T	1: 135,003,476	S3N	probably benign	Het
Lmod1	C	T	1: 135,364,073	T222I	probably benign	Het
Mb21d2	A	G	16: 28,828,421	V267A	probably benign	Het
Mfrp	A	G	9: 44,104,587	T334A	possibly damaging	Het
Morc1	T	A	16: 48,612,297	D709E	probably benign	Het
Mrgpra2b	A	G	7: 47,464,879	I35T	probably benign	Het
Mroh3	G	C	1: 136,192,144	Q440E	possibly damaging	Het
Mybph	C	T	1: 134,197,480	R249C	probably benign	Het
Mycbp2	A	T	14: 103,155,178	C3206S	probably damaging	Het
Nav1	A	T	1: 135,584,727	D198E	possibly damaging	Het
Ndufaf7	A	T	17: 78,937,629	K59M	probably damaging	Het
Necab3	T	C	2: 154,546,875	S208G	probably benign	Het
Nr5a2	C	A	1: 136,952,125	R35L	probably benign	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1026	T	A	2: 85,924,122	L285I	possibly damaging	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr402	A	G	11: 74,155,976	D274G	probably damaging	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Olfr870	A	T	9: 20,170,913	Y219*	probably null	Het
Optc	A	T	1: 133,903,796		probably null	Het
Optc	C	G	1: 133,905,170	S64T	probably benign	Het
Otoa	T	C	7: 121,125,439	V447A	probably benign	Het
Papss1	A	G	3: 131,605,967	N319D	probably benign	Het
Patj	G	A	4: 98,431,780	G428D	possibly damaging	Het
Pcdhb3	G	A	18: 37,301,878	G299D	probably damaging	Het
Pcsk4	T	C	10: 80,323,570	D432G	probably damaging	Het
Pde5a	G	T	3: 122,748,240	L126F	probably damaging	Het
Pigr	C	T	1: 130,844,522	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 133,066,627	P110S	probably benign	Het
Pinx1	A	G	14: 63,878,110		probably null	Het
Plec	C	A	15: 76,177,692	E2547*	probably null	Het
Plekha6	C	G	1: 133,287,846	T792S	probably benign	Het
Ppfia4	G	A	1: 134,299,321	P1159S	probably benign	Het
Ppil2	C	G	16: 17,089,419		probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Prrx1	T	A	1: 163,261,967	N97I	probably damaging	Het
Ptpn7	A	G	1: 135,134,475	Q53R	probably benign	Het
Ptprc	T	G	1: 138,099,676	N478T	probably benign	Het
Ptprc	A	G	1: 138,107,823	S405P	probably benign	Het
Ptprc	C	A	1: 138,107,824	E402D	probably benign	Het
Ptprc	A	G	1: 138,107,837	V400A	probably benign	Het
Ptprc	T	C	1: 138,112,254	K212E	possibly damaging	Het
Rab29	A	G	1: 131,872,110	Q141R	probably benign	Het
Rbsn	A	T	6: 92,190,019	L548Q	possibly damaging	Het
Ren1	T	A	1: 133,354,206	W22R	probably damaging	Het
Ren1	C	T	1: 133,354,237	T32I	probably benign	Het
Ren1	A	C	1: 133,356,457	K187Q	probably benign	Het
Ren1	C	A	1: 133,358,982		probably null	Het
Ren1	A	T	1: 133,359,079	E315D	probably benign	Het
Ren1	A	T	1: 133,359,983	N352Y	probably benign	Het
Ren1	C	G	1: 133,360,007	L360V	probably benign	Het
Rnpep	C	T	1: 135,263,096	A571T	possibly damaging	Het
Rnpep	G	C	1: 135,283,977	A11G	probably benign	Het
Ryr2	C	T	13: 11,587,422	V4525M	possibly damaging	Het
Sctr	T	C	1: 120,031,656	F110L	probably benign	Het
Sctr	G	A	1: 120,063,257	S440N	possibly damaging	Het
Serpinb10	C	T	1: 107,538,473	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,515,635	A55T	probably damaging	Het
Serpinb2	C	A	1: 107,523,834	A239E	probably benign	Het
Serpinb2	C	T	1: 107,523,890	H258Y	probably benign	Het
Serpinb2	C	T	1: 107,523,894	T259I	probably benign	Het
Serpinb2	A	C	1: 107,524,543	S284R	probably benign	Het
Serpinb8	A	G	1: 107,597,527	S20G	probably benign	Het
Serpinb8	G	A	1: 107,598,954	A75T	probably benign	Het
Serpinb8	A	C	1: 107,607,004	L268F	probably benign	Het
Sis	A	T	3: 72,965,645	C53*	probably null	Het
Slc13a5	C	T	11: 72,266,459		probably null	Het
Slc26a9	C	T	1: 131,763,870	A617V	probably benign	Het
Slc26a9	C	A	1: 131,766,012	R747S	probably benign	Het
Slc9a8	T	C	2: 167,424,145	F14S	probably benign	Het
Spock3	T	C	8: 63,348,977	L330P	probably damaging	Het
Stab2	T	G	10: 86,938,039	R809S	probably benign	Het
Steap3	T	C	1: 120,227,750	N493S	probably benign	Het
Steap3	G	A	1: 120,234,378	A350V	probably benign	Het
Tecta	G	A	9: 42,391,922	T138I	probably benign	Het
Thsd7b	C	T	1: 129,628,891	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,667,937	F498Y	probably benign	Het
Thsd7b	G	C	1: 129,678,183	A554P	probably benign	Het
Thsd7b	A	C	1: 130,116,631	Q1116P	probably benign	Het
Tnnt2	C	T	1: 135,845,506		probably benign	Het
Traf7	A	G	17: 24,512,379	F228L	probably damaging	Het
Trhr	A	G	15: 44,197,153	E23G	probably damaging	Het
Trove2	C	T	1: 143,760,014	V465I	probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Tubgcp2	T	C	7: 139,998,055	T779A	probably benign	Het
Tusc2	A	T	9: 107,564,631	I68F	probably damaging	Het
Ube2t	C	T	1: 134,972,167	A149V	probably benign	Het
Upf2	A	T	2: 6,027,450	S191C	probably damaging	Het
Usp24	A	G	4: 106,360,421	N447S	possibly damaging	Het
Usp42	T	C	5: 143,714,626	D1214G	probably damaging	Het
Vcam1	T	A	3: 116,114,515	I633L	probably benign	Het
Vmn2r73	T	C	7: 85,857,878	Y742C	probably damaging	Het
Vmn2r81	C	A	10: 79,270,655	T489K	probably benign	Het
Zan	C	A	5: 137,415,018		probably benign	Het
Zc3h11a	G	A	1: 133,622,154	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,624,621	V583I	probably benign	Het
Zfp616	A	C	11: 74,085,771	K955N	probably damaging	Het
Zfyve9	A	C	4: 108,718,501	V461G	possibly damaging	Het
Zp3r	A	G	1: 130,596,814	L164P	probably benign	Het
Zp3r	C	A	1: 130,619,414	E8D	possibly damaging	Het

Other mutations in Ildr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02501:Ildr1	APN	16	36722350	missense	probably damaging	1.00
IGL02505:Ildr1	APN	16	36716164	missense	probably damaging	1.00
R0295:Ildr1	UTSW	16	36709477	critical splice acceptor site	probably null
R1649:Ildr1	UTSW	16	36708319	missense	probably damaging	1.00
R1990:Ildr1	UTSW	16	36716206	missense	probably damaging	0.99
R2020:Ildr1	UTSW	16	36725541	missense	probably damaging	0.97
R2110:Ildr1	UTSW	16	36721979	missense	probably damaging	1.00
R2111:Ildr1	UTSW	16	36721979	missense	probably damaging	1.00
R4755:Ildr1	UTSW	16	36722021	missense	probably benign	0.00
R4798:Ildr1	UTSW	16	36722555	missense	possibly damaging	0.66
R4973:Ildr1	UTSW	16	36708298	missense	probably benign	0.10
R5014:Ildr1	UTSW	16	36721559	missense	probably damaging	0.98
R5426:Ildr1	UTSW	16	36709619	missense	probably damaging	1.00
R5957:Ildr1	UTSW	16	36725534	makesense	probably null
R7058:Ildr1	UTSW	16	36722368	missense	probably benign	0.01
R7646:Ildr1	UTSW	16	36721919	missense	possibly damaging	0.78
R8245:Ildr1	UTSW	16	36709521	missense	probably damaging	1.00
R8392:Ildr1	UTSW	16	36722358	nonsense	probably null
R8392:Ildr1	UTSW	16	36722359	missense	probably damaging	1.00
R8748:Ildr1	UTSW	16	36722372	missense	probably benign	0.18
R8791:Ildr1	UTSW	16	36708400	missense	probably damaging	0.96
R8854:Ildr1	UTSW	16	36715548	missense	probably damaging	1.00
R9108:Ildr1	UTSW	16	36715557	missense	probably benign	0.13
R9252:Ildr1	UTSW	16	36716212	missense	probably damaging	1.00
R9372:Ildr1	UTSW	16	36722359	missense	probably damaging	1.00
R9434:Ildr1	UTSW	16	36709500	missense	probably damaging	1.00
R9642:Ildr1	UTSW	16	36716128	missense	probably damaging	1.00
R9681:Ildr1	UTSW	16	36708387	missense	probably damaging	1.00
R9707:Ildr1	UTSW	16	36709530	missense	probably damaging	1.00
R9777:Ildr1	UTSW	16	36708297	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TACTACCTGAGCCTGGCCTCAAAG -3'
(R):5'- AGTGATCTGTAACGAGCCCTAGACC -3'

Sequencing Primer
(F):5'- cacccccatcgcccttc -3'
(R):5'- GAGCCCTAGACCCCAATGATAG -3'

Posted On

2014-05-23