Mutagenetix > Incidental Mutations

Incidental Mutation 'R5014:Ildr1'

385455

Institutional Source

Beutler Lab

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

MMRRC Submission

042605-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36693978-36726804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36721559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 222 (M222K)

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: M222K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: M222K

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

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900

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: M222K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: M222K

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

Meta Mutation Damage Score

0.2680

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,543,933	T1353A	probably benign	Het
Abca8b	A	T	11: 109,950,131	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,284,871	T517A	probably benign	Het
Blk	T	G	14: 63,379,787	N257T	probably benign	Het
Brd4	A	T	17: 32,198,398		probably benign	Het
Calr4	C	T	4: 109,235,797	Q25*	probably null	Het
Casc1	T	C	6: 145,183,266	E407G	probably damaging	Het
Cbl	T	C	9: 44,154,399		probably null	Het
Ccdc30	T	G	4: 119,393,627	H6P	possibly damaging	Het
Cd101	A	C	3: 101,003,823	Y840D	probably damaging	Het
Cd68	T	A	11: 69,665,339	N178Y	probably damaging	Het
Cep350	T	C	1: 155,928,206	T1044A	probably benign	Het
Cfap46	A	G	7: 139,627,375	V1876A	probably benign	Het
Clec2g	T	A	6: 128,948,802	M58K	probably benign	Het
Clip1	T	C	5: 123,617,730	E860G	probably damaging	Het
Col18a1	C	T	10: 77,070,960		probably null	Het
Cul7	A	G	17: 46,655,942	*650W	probably null	Het
Dkk4	C	T	8: 22,625,299	A55V	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dnase1	C	A	16: 4,039,016	Y170*	probably null	Het
Dnmt1	A	C	9: 20,912,254	I1019S	probably benign	Het
Epha6	T	A	16: 59,666,579	H1035L	probably benign	Het
Fam124b	T	C	1: 80,200,059	T408A	probably benign	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fam71f1	C	T	6: 29,326,724		probably benign	Het
Galnt7	T	C	8: 57,545,380	E305G	probably damaging	Het
Git1	T	A	11: 77,498,995	V28E	probably damaging	Het
Gm10010	C	T	6: 128,200,593		noncoding transcript	Het
Gm4956	T	C	1: 21,293,597		noncoding transcript	Het
Gpr152	T	G	19: 4,143,507	V349G	probably benign	Het
Gtsf1l	C	T	2: 163,087,192	V124I	probably damaging	Het
Gucy1b1	C	G	3: 82,046,667	G114A	probably benign	Het
Hk2	T	C	6: 82,743,955	Q166R	possibly damaging	Het
Hook2	A	G	8: 84,991,377	I44M	probably damaging	Het
Ints6	A	T	14: 62,760,191	F55Y	probably benign	Het
Kcnh1	A	G	1: 192,277,080	N314S	probably damaging	Het
Lpin3	T	C	2: 160,904,828	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,936,395		probably benign	Het
Msh2	A	T	17: 87,717,576	K627N	possibly damaging	Het
Myrip	A	G	9: 120,422,468	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,591,242	W51R	probably damaging	Het
Nfasc	A	T	1: 132,584,447		probably benign	Het
Olfr15	T	A	16: 3,839,048	I25N	probably benign	Het
Olfr281	T	C	15: 98,456,976	V222A	possibly damaging	Het
Olfr90	T	A	17: 37,085,554	I204F	probably benign	Het
P3h3	T	A	6: 124,855,236	E229V	probably damaging	Het
Ppfia2	T	A	10: 106,865,363	L837*	probably null	Het
Ppp2r1a	G	A	17: 20,958,839		probably null	Het
Rabgap1	T	A	2: 37,487,140	V328E	probably damaging	Het
Ralgapb	G	A	2: 158,495,535	R1138Q	probably damaging	Het
Ranbp2	A	T	10: 58,464,120	Q498L	probably benign	Het
Rbx1	T	A	15: 81,470,960	C56S	probably damaging	Het
Rcan2	T	C	17: 44,017,813	F45S	probably damaging	Het
Rgs20	T	C	1: 4,910,547	Y185C	probably damaging	Het
Rorc	T	G	3: 94,391,153	L315R	probably damaging	Het
Skiv2l	A	G	17: 34,847,425	V194A	probably benign	Het
Slc13a2	T	C	11: 78,400,161	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,761,040	K62*	probably null	Het
Sox30	T	C	11: 45,991,909	S589P	probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Ssh2	T	A	11: 77,455,276	C1362*	probably null	Het
Tecta	C	T	9: 42,373,242	C849Y	probably damaging	Het
Thbs1	T	A	2: 118,120,037		probably null	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tyk2	C	T	9: 21,115,830		probably null	Het
Tyw5	C	A	1: 57,406,845		probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Wdfy4	A	T	14: 33,100,940	C1401S	probably benign	Het
Wiz	T	C	17: 32,359,366	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,014,749	E475K	unknown	Het
Zcchc11	T	C	4: 108,526,846		probably benign	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	Het
Zfp184	A	G	13: 21,958,424	D100G	probably benign	Het
Zfp990	T	A	4: 145,538,099	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892	P189L	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCTATAACAAGGAAACACAGCTC -3'
(R):5'- GAAAGACACCCGGTTAGTGC -3'

Sequencing Primer
(F):5'- GCTCCTTGCTAAAGATACAGCC -3'
(R):5'- CGCATGCTTCTTGGCAGAC -3'

Posted On

2016-05-10