Mutagenetix > Incidental Mutation

Incidental Mutation 'R8854:Ildr1'

675200

Institutional Source

Beutler Lab

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

MMRRC Submission

068676-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36514340-36547166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36535910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 142 (Y142N)

Ref Sequence

ENSEMBL: ENSMUSP00000023617 (fasta)

Gene Model

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

AlphaFold

Q8CBR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023617
AA Change: Y142N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: Y142N

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: Y142N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: Y142N

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: Y142N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: Y142N

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

Meta Mutation Damage Score

0.9063

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	G	A	19: 20,588,297 (GRCm39)	W29*	probably null	Het
Ankib1	C	A	5: 3,777,489 (GRCm39)	W467L	probably null	Het
Arhgef10	A	G	8: 15,029,798 (GRCm39)		probably null	Het
Arpc1b	C	A	5: 145,060,405 (GRCm39)	R66S	probably benign	Het
Atoh1	A	T	6: 64,706,189 (GRCm39)		probably benign	Het
Bach2	T	A	4: 32,575,263 (GRCm39)	D619E	possibly damaging	Het
Bbs9	T	C	9: 22,490,060 (GRCm39)	I277T	probably damaging	Het
Cadps2	G	A	6: 23,385,507 (GRCm39)	P772S	probably damaging	Het
Cd1d1	T	A	3: 86,905,480 (GRCm39)	D171V	probably damaging	Het
Cfap20dc	A	T	14: 8,518,638 (GRCm38)	S273T	probably damaging	Het
Clca3a2	C	T	3: 144,783,852 (GRCm39)	A588T	possibly damaging	Het
Cps1	A	G	1: 67,200,048 (GRCm39)	K399E	probably damaging	Het
Cpt1a	T	C	19: 3,406,327 (GRCm39)	S98P	probably benign	Het
Cryzl2	A	G	1: 157,286,370 (GRCm39)	K36R	possibly damaging	Het
Cxcl13	T	C	5: 96,104,861 (GRCm39)	L11P	unknown	Het
Dbf4	T	A	5: 8,458,562 (GRCm39)	D151V	probably damaging	Het
Eogt	A	T	6: 97,108,359 (GRCm39)	C227*	probably null	Het
Fermt3	T	A	19: 6,991,310 (GRCm39)	D231V	probably damaging	Het
Il2rb	T	C	15: 78,369,953 (GRCm39)	T229A	probably benign	Het
Kcnv2	A	T	19: 27,311,258 (GRCm39)	T542S	probably benign	Het
Kif26b	G	A	1: 178,743,948 (GRCm39)	G1348E	possibly damaging	Het
Lancl1	C	T	1: 67,073,358 (GRCm39)	E42K	possibly damaging	Het
Lrp1	T	A	10: 127,378,968 (GRCm39)	D4010V	probably damaging	Het
Mark2	A	G	19: 7,258,369 (GRCm39)	V640A	probably benign	Het
Megf6	C	T	4: 154,352,469 (GRCm39)	T1276M	probably damaging	Het
Meioc	T	C	11: 102,566,589 (GRCm39)	M735T	probably damaging	Het
Mfsd4b5	C	A	10: 39,846,735 (GRCm39)	V282L	probably damaging	Het
Mlx	T	A	11: 100,981,951 (GRCm39)	V286E		Het
Ms4a18	G	A	19: 10,990,887 (GRCm39)	T69I	probably benign	Het
Muc1	C	T	3: 89,139,412 (GRCm39)	P604L	probably damaging	Het
Net1	G	T	13: 3,934,214 (GRCm39)	D548E	probably benign	Het
Ngly1	T	C	14: 16,281,769 (GRCm38)	S342P	probably damaging	Het
Niban1	A	G	1: 151,584,950 (GRCm39)	K516E	probably damaging	Het
Nipbl	A	T	15: 8,330,210 (GRCm39)	I2405N	probably damaging	Het
Nkx2-1	A	T	12: 56,580,206 (GRCm39)	C245S	probably benign	Het
Or52ab7	T	C	7: 102,978,023 (GRCm39)	I110T	probably damaging	Het
Or5p76	T	A	7: 108,122,936 (GRCm39)	I74L	probably benign	Het
Pcare	T	C	17: 72,056,326 (GRCm39)	Y1117C	probably benign	Het
Pcdhgb5	C	T	18: 37,865,501 (GRCm39)	T432I	probably benign	Het
Plpp4	T	A	7: 128,909,362 (GRCm39)	L24*	probably null	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Sass6	C	A	3: 116,399,384 (GRCm39)	Q93K	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,308 (GRCm39)	N177S	possibly damaging	Het
Slc22a30	A	G	19: 8,363,754 (GRCm39)		probably null	Het
Snd1	A	G	6: 28,526,968 (GRCm39)	H217R	probably benign	Het
Spata31d1c	C	A	13: 65,183,804 (GRCm39)	Q449K	possibly damaging	Het
Spidr	A	G	16: 15,707,630 (GRCm39)	V889A	probably damaging	Het
Suclg2	A	T	6: 95,572,650 (GRCm39)	V105D	probably damaging	Het
Syne1	A	T	10: 5,078,503 (GRCm39)	M974K	probably benign	Het
Tbrg4	A	T	11: 6,566,691 (GRCm39)	D605E	probably benign	Het
Tcn2	A	G	11: 3,876,074 (GRCm39)	F118S	possibly damaging	Het
Tcstv2b	T	A	13: 120,377,825 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,367,238 (GRCm39)	H208R	probably benign	Het
Trf	A	G	9: 103,107,529 (GRCm39)		probably benign	Het
Trpc4	A	T	3: 54,102,122 (GRCm39)	K7*	probably null	Het
Uap1	G	T	1: 169,976,984 (GRCm39)	P405Q	probably damaging	Het
Usp33	C	A	3: 152,073,967 (GRCm39)	T271N	probably benign	Het
Usp42	T	C	5: 143,702,632 (GRCm39)	D663G	possibly damaging	Het
Vmn2r10	T	C	5: 109,144,126 (GRCm39)	D608G	probably benign	Het
Wfdc16	G	A	2: 164,480,486 (GRCm39)	P3L	probably benign	Het
Zfp28	T	C	7: 6,397,938 (GRCm39)	I791T	probably benign	Het
Zfp970	A	T	2: 177,165,088 (GRCm39)	T5S	probably damaging	Het
Zfy1	A	T	Y: 726,501 (GRCm39)	H421Q	possibly damaging	Het

Other mutations in Ildr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02501:Ildr1	APN	16	36,542,712 (GRCm39)	missense	probably damaging	1.00
IGL02505:Ildr1	APN	16	36,536,526 (GRCm39)	missense	probably damaging	1.00
R0295:Ildr1	UTSW	16	36,529,839 (GRCm39)	critical splice acceptor site	probably null
R1649:Ildr1	UTSW	16	36,528,681 (GRCm39)	missense	probably damaging	1.00
R1728:Ildr1	UTSW	16	36,528,698 (GRCm39)	missense	possibly damaging	0.80
R1990:Ildr1	UTSW	16	36,536,568 (GRCm39)	missense	probably damaging	0.99
R2020:Ildr1	UTSW	16	36,545,903 (GRCm39)	missense	probably damaging	0.97
R2110:Ildr1	UTSW	16	36,542,341 (GRCm39)	missense	probably damaging	1.00
R2111:Ildr1	UTSW	16	36,542,341 (GRCm39)	missense	probably damaging	1.00
R4755:Ildr1	UTSW	16	36,542,383 (GRCm39)	missense	probably benign	0.00
R4798:Ildr1	UTSW	16	36,542,917 (GRCm39)	missense	possibly damaging	0.66
R4973:Ildr1	UTSW	16	36,528,660 (GRCm39)	missense	probably benign	0.10
R5014:Ildr1	UTSW	16	36,541,921 (GRCm39)	missense	probably damaging	0.98
R5426:Ildr1	UTSW	16	36,529,981 (GRCm39)	missense	probably damaging	1.00
R5957:Ildr1	UTSW	16	36,545,896 (GRCm39)	makesense	probably null
R7058:Ildr1	UTSW	16	36,542,730 (GRCm39)	missense	probably benign	0.01
R7646:Ildr1	UTSW	16	36,542,281 (GRCm39)	missense	possibly damaging	0.78
R8245:Ildr1	UTSW	16	36,529,883 (GRCm39)	missense	probably damaging	1.00
R8392:Ildr1	UTSW	16	36,542,721 (GRCm39)	missense	probably damaging	1.00
R8392:Ildr1	UTSW	16	36,542,720 (GRCm39)	nonsense	probably null
R8748:Ildr1	UTSW	16	36,542,734 (GRCm39)	missense	probably benign	0.18
R8791:Ildr1	UTSW	16	36,528,762 (GRCm39)	missense	probably damaging	0.96
R9108:Ildr1	UTSW	16	36,535,919 (GRCm39)	missense	probably benign	0.13
R9252:Ildr1	UTSW	16	36,536,574 (GRCm39)	missense	probably damaging	1.00
R9372:Ildr1	UTSW	16	36,542,721 (GRCm39)	missense	probably damaging	1.00
R9434:Ildr1	UTSW	16	36,529,862 (GRCm39)	missense	probably damaging	1.00
R9642:Ildr1	UTSW	16	36,536,490 (GRCm39)	missense	probably damaging	1.00
R9681:Ildr1	UTSW	16	36,528,749 (GRCm39)	missense	probably damaging	1.00
R9707:Ildr1	UTSW	16	36,529,892 (GRCm39)	missense	probably damaging	1.00
R9777:Ildr1	UTSW	16	36,528,659 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TGTGAGGAAGGATCTCGGAC -3'
(R):5'- TAAGGCCTAGTGACACACTGGC -3'

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

Posted On

2021-07-15