Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Ildr1'

37712

Institutional Source

Beutler Lab

Gene Symbol

Ildr1

Ensembl Gene

ENSMUSG00000022900

Gene Name

immunoglobulin-like domain containing receptor 1

Synonyms

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36693978-36726804 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 36709477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112539 (fasta)

Gene Model

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

AlphaFold

Q8CBR1

Predicted Effect

probably null
Transcript: ENSMUST00000023617

SMART Domains

Protein: ENSMUSP00000023617
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	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 null
Transcript: ENSMUST00000023617

SMART Domains

Protein: ENSMUSP00000023617
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	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 null
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 null
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 null
Transcript: ENSMUST00000119464

SMART Domains

Protein: ENSMUSP00000112539
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	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 null
Transcript: ENSMUST00000119464

SMART Domains

Protein: ENSMUSP00000112539
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	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 null
Transcript: ENSMUST00000119464

SMART Domains

Protein: ENSMUSP00000112539
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	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 null
Transcript: ENSMUST00000119464

SMART Domains

Protein: ENSMUSP00000112539
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	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

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,282,594	I173N	probably damaging	Het
2610028H24Rik	G	A	10: 76,454,808	S127N	probably damaging	Het
Abcc8	T	C	7: 46,118,054	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,548,005		probably null	Het
Adh4	A	G	3: 138,429,076	D337G	probably damaging	Het
Apob	T	A	12: 8,002,181	Y1207*	probably null	Het
Birc6	T	C	17: 74,613,362		probably benign	Het
Bms1	A	G	6: 118,389,337	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,356,211	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,356,870	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,173,789	K586N	probably damaging	Het
Cep290	A	C	10: 100,537,821	E1321A	probably damaging	Het
Ctc1	A	G	11: 69,030,588	K682E	possibly damaging	Het
Cux1	A	C	5: 136,313,212	V442G	probably benign	Het
Dph2	A	T	4: 117,890,930	V150E	possibly damaging	Het
Etv6	A	G	6: 134,266,275	D331G	probably benign	Het
Fbxo42	A	G	4: 141,200,497	D696G	probably damaging	Het
Fbxo8	G	A	8: 56,590,074	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840	T73A	possibly damaging	Het
H2afj	C	G	6: 136,808,604	R89G	probably damaging	Het
Ifng	G	T	10: 118,441,249	S32I	possibly damaging	Het
Knl1	A	C	2: 119,088,839	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,701,108	Y108*	probably null	Het
Lcp1	A	G	14: 75,199,420	I69V	probably null	Het
Lrp6	A	T	6: 134,457,693	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,565,849	E1009D	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Med14	G	C	X: 12,685,748	R1223G	probably damaging	Het
Mesd	C	T	7: 83,897,865	Q179*	probably null	Het
Myh7	A	G	14: 54,984,821		probably benign	Het
Myo6	T	C	9: 80,283,579	I804T	probably damaging	Het
Neb	T	C	2: 52,284,285	I1521V	possibly damaging	Het
Nosip	T	A	7: 45,076,916	I249N	probably damaging	Het
Nostrin	A	C	2: 69,179,416	E296A	probably benign	Het
Olfr1280	T	A	2: 111,316,154	V225D	probably damaging	Het
Olfr136	A	T	17: 38,335,291	I45F	probably damaging	Het
Olfr491	T	G	7: 108,317,685	S264A	probably benign	Het
Olfr624	T	C	7: 103,670,311	H240R	probably damaging	Het
Oprk1	T	C	1: 5,598,850	L173S	possibly damaging	Het
Pdzd7	A	G	19: 45,037,072	V328A	probably benign	Het
Podxl2	A	T	6: 88,849,678	S215R	probably benign	Het
Prss36	T	G	7: 127,935,855	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,823,985		probably benign	Het
Rasa2	T	C	9: 96,545,810		probably null	Het
Rgs1	A	T	1: 144,245,486	I149N	probably damaging	Het
Rgs16	A	G	1: 153,743,737	E163G	probably damaging	Het
Rnf121	A	G	7: 102,035,346	F120S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slfn8	A	T	11: 83,003,343	Y823*	probably null	Het
Spdl1	A	T	11: 34,813,343	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,356,203		probably benign	Het
Tet3	G	A	6: 83,369,139	P1304S	probably benign	Het
Timm29	T	C	9: 21,593,076		probably null	Het
Tpcn1	T	A	5: 120,539,060	I687F	probably damaging	Het
Trim46	A	G	3: 89,245,113		probably benign	Het
Ttc23	T	A	7: 67,669,852		probably benign	Het
Ttll6	G	T	11: 96,154,714	V586L	probably benign	Het
Ttn	A	T	2: 76,758,611		probably benign	Het
Uba3	A	T	6: 97,191,583	H160Q	possibly damaging	Het
Usp32	A	G	11: 85,053,692	S316P	probably damaging	Het
Vcan	T	C	13: 89,712,191	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,817,472	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,307,616	S138P	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
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

Predicted Primers

PCR Primer
(F):5'- AGCAAGCGGGAAGTATTGGTCACC -3'
(R):5'- AGTTCAGTCATCGAGCCCCAGAAG -3'

Sequencing Primer
(F):5'- TCACCTGGTAGATTGAACAGC -3'
(R):5'- AGGGGAATCCCTTGCTGAC -3'

Posted On

2013-05-23