Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Ildr1'

296270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

36693978-36726804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36716164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 185 (G185D)

Ref Sequence

ENSEMBL: ENSMUSP00000112539 (fasta)

Gene Model

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

AlphaFold

Q8CBR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023617
AA Change: G185D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: G185D

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

probably damaging
Transcript: ENSMUST00000089618
AA Change: G185D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: G185D

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

probably damaging
Transcript: ENSMUST00000119464
AA Change: G185D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: G185D

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: ENSMUST00000128084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153802

Coding Region Coverage

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,616,814	L68M	probably damaging	Het
Abca13	T	G	11: 9,581,498	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,245,761	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,795,994	A252E	probably damaging	Het
Ap1b1	C	T	11: 5,031,700	A536V	probably benign	Het
Arhgef3	A	G	14: 27,394,000	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,000,863	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,235,075	V622M	probably damaging	Het
Aup1	A	G	6: 83,055,277	T142A	probably benign	Het
Bcl6	A	T	16: 23,977,569	I36N	probably damaging	Het
Best1	A	G	19: 9,989,150	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759	Q1150P	probably damaging	Het
Capn5	T	A	7: 98,131,196	E322D	possibly damaging	Het
Ccdc94	G	T	17: 55,962,051	G53V	probably damaging	Het
Cd300ld2	A	T	11: 115,013,687	M118K	probably benign	Het
Cdh9	T	C	15: 16,855,989	L705P	probably damaging	Het
Cep170b	T	G	12: 112,743,070	N436K	probably damaging	Het
Chil6	T	A	3: 106,405,962	I24F	probably benign	Het
Chmp2a	T	A	7: 13,033,855	K48*	probably null	Het
Col19a1	C	T	1: 24,300,584		probably benign	Het
Cops7b	C	A	1: 86,592,321	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,769,156	L133H	probably damaging	Het
Dirc2	G	T	16: 35,735,558	D177E	probably benign	Het
Dkc1	T	C	X: 75,108,733		probably benign	Het
Erlec1	A	G	11: 30,950,767	Y134H	probably damaging	Het
F8	C	A	X: 75,379,598		probably benign	Het
Fus	G	A	7: 127,981,507	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,253,106	D9E	probably benign	Het
Gm15821	T	C	17: 34,214,285		probably benign	Het
Gm5117	C	A	8: 31,738,316		noncoding transcript	Het
H2afy	A	G	13: 56,074,330	V336A	probably damaging	Het
H2-Q6	A	G	17: 35,425,176	I45V	probably benign	Het
Hectd1	A	G	12: 51,800,713		probably null	Het
Ifi204	T	C	1: 173,755,654	K333E	probably benign	Het
Itgb2	G	A	10: 77,547,218	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,060,855	D226Y	probably damaging	Het
Krt77	A	G	15: 101,860,946	L460P	probably damaging	Het
Lamp3	A	G	16: 19,655,457	I389T	possibly damaging	Het
Mars	C	A	10: 127,304,244	E414*	probably null	Het
Mpg	T	C	11: 32,230,042	V190A	probably damaging	Het
Myh15	A	G	16: 49,117,263	I742M	possibly damaging	Het
Nell2	A	T	15: 95,296,263		probably benign	Het
Nmur1	T	C	1: 86,386,335	D370G	probably benign	Het
Npsr1	A	G	9: 24,098,282	E28G	probably benign	Het
Olfr569	T	C	7: 102,887,607	E182G	probably damaging	Het
Olfr679	A	T	7: 105,086,333	I206L	probably benign	Het
Olfr8	G	T	10: 78,955,933	V243F	probably benign	Het
Olfr876	G	A	9: 37,804,331	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,151,938	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 109,633,216	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,957,139	K685N	probably damaging	Het
Prim1	T	A	10: 128,029,783	*419R	probably null	Het
Ptk2b	G	T	14: 66,154,243	N905K	probably damaging	Het
Rbm34	T	C	8: 126,949,321	I395V	probably benign	Het
Rfx1	A	G	8: 84,095,809	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,436,659	Y169H	possibly damaging	Het
Susd4	C	A	1: 182,892,080	T420K	probably benign	Het
Tdrd3	G	A	14: 87,511,682	G676D	probably damaging	Het
Tec	T	C	5: 72,789,244	K47E	probably damaging	Het
Tenm2	C	A	11: 36,051,916	G1308*	probably null	Het
Tmprss15	A	T	16: 78,987,741	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,362,419	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,976,451	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,425,580	T296K	probably damaging	Het
Wdr3	C	T	3: 100,151,974	S343N	probably benign	Het
Zfp143	A	T	7: 110,091,786	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,689,800	I42V	probably benign	Het
Zswim5	A	T	4: 116,962,552	M385L	probably benign	Het

Other mutations in Ildr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02501:Ildr1	APN	16	36722350	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
R1728:Ildr1	UTSW	16	36708336	missense	possibly damaging	0.80
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

Posted On

2015-04-16