Mutagenetix > Incidental Mutations

Incidental Mutation 'R9108:Ildr1'

692102

Institutional Source

Beutler Lab

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9108 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36693978-36726804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36715557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 145 (T145A)

Ref Sequence

ENSEMBL: ENSMUSP00000023617 (fasta)

Gene Model

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

AlphaFold

Q8CBR1

Predicted Effect

probably benign
Transcript: ENSMUST00000023617
AA Change: T145A

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: T145A

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 benign
Transcript: ENSMUST00000089618
AA Change: T145A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: T145A

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 benign
Transcript: ENSMUST00000119464
AA Change: T145A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: T145A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	A	18: 6,638,794	V398M	probably benign	Het
4930568D16Rik	G	A	2: 35,354,930	P137S	probably damaging	Het
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Abcg8	A	C	17: 84,692,815	I268L	probably benign	Het
Acvrl1	A	G	15: 101,141,157	Q445R	probably damaging	Het
Adam17	T	C	12: 21,330,131	N625D	probably benign	Het
Adamts9	C	T	6: 92,880,740	V856M	probably damaging	Het
Adar	T	C	3: 89,736,167	C452R	probably damaging	Het
Adgra3	G	T	5: 49,978,953	A730D	probably damaging	Het
Adnp2	C	T	18: 80,142,710	R16Q	probably damaging	Het
Aox2	T	C	1: 58,282,692	C48R	probably damaging	Het
Cabin1	T	C	10: 75,657,139	E1774G	possibly damaging	Het
Capsl	A	T	15: 9,465,824	I199F	possibly damaging	Het
Ccdc191	T	A	16: 43,898,149	D36E	possibly damaging	Het
Cep170	T	A	1: 176,788,485	K86*	probably null	Het
Cnnm1	T	C	19: 43,476,210	F736S	possibly damaging	Het
Col11a2	T	A	17: 34,057,660	V532E	probably benign	Het
Dnmt3l	T	C	10: 78,056,922		probably null	Het
Dzank1	C	A	2: 144,522,471	V69L	probably benign	Het
Epor	T	G	9: 21,959,579	E335A	probably damaging	Het
Fbxo46	A	T	7: 19,136,383	Y309F	probably damaging	Het
Gm14124	T	A	2: 150,268,049	C220S	possibly damaging	Het
Gnptab	C	T	10: 88,433,538	S701L		Het
Ifnl3	T	C	7: 28,524,279	L180P	probably benign	Het
Ikzf2	T	A	1: 69,538,797	I518F	probably damaging	Het
Kiss1r	A	T	10: 79,918,502		probably benign	Het
Lhpp	A	G	7: 132,650,289	D219G	probably damaging	Het
Lrp1	A	T	10: 127,554,337	M3071K	probably damaging	Het
Map6	T	C	7: 99,336,896	L872P	probably damaging	Het
Mgst2	T	A	3: 51,681,812	L82Q	probably damaging	Het
Mier2	A	T	10: 79,541,922	V399E	probably benign	Het
Nms	T	C	1: 38,946,066	V91A	possibly damaging	Het
Nt5dc2	T	A	14: 31,135,059	Y145*	probably null	Het
Olfml2a	A	T	2: 38,941,741	M111L	probably benign	Het
Olfr487	T	C	7: 108,211,639	N297D	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,572	L172Q	unknown	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Plod3	T	C	5: 136,989,163	I221T	probably damaging	Het
Polm	T	C	11: 5,829,872	Q342R	probably benign	Het
Ppp2r5c	A	T	12: 110,554,869	L275F	probably damaging	Het
Prdm12	C	T	2: 31,643,917	T182M	possibly damaging	Het
Rasgrp2	G	A	19: 6,408,860	V440M	probably damaging	Het
Rnf111	C	T	9: 70,429,564	G947D	probably damaging	Het
Runx3	A	T	4: 135,155,381	M143L	probably damaging	Het
Samd9l	T	C	6: 3,373,104	S1386G	possibly damaging	Het
Saxo2	C	T	7: 82,634,874	V259I	probably benign	Het
Shroom3	T	C	5: 92,940,116	S242P	probably damaging	Het
Slc35e1	G	A	8: 72,492,186	P134L		Het
Spata31d1a	A	G	13: 59,703,168	V382A	probably benign	Het
Tenm3	A	T	8: 48,313,236		probably null	Het
Trip10	C	T	17: 57,253,519	A123V	probably damaging	Het
Trmt13	A	G	3: 116,581,480	S460P	probably damaging	Het
Trpd52l3	A	G	19: 30,003,929	N28S	probably benign	Het
Tubb4a	A	G	17: 57,081,232	F265L	probably benign	Het
Uba6	A	T	5: 86,135,075	C581S	possibly damaging	Het
Uckl1	A	G	2: 181,569,500	V512A	probably damaging	Het
Usp34	A	T	11: 23,370,528	M957L		Het
Vmn2r57	T	C	7: 41,428,768	I89V	possibly damaging	Het
Zfp322a	T	C	13: 23,357,267	I102V	probably benign	Het
Zzef1	A	G	11: 72,899,778	D2186G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGATCTCGGACCCCTTTGTC -3'
(R):5'- GTAAGGCCTAGTGACACACTG -3'

Sequencing Primer
(F):5'- CATCTACCACAGGCCTTCTTAGAAAG -3'
(R):5'- CTCTAGTAAGAGGCCATCAGAGGTC -3'

Posted On

2021-12-30