Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02501:Ildr1'

296063

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02501

Quality Score

Status

Chromosome

Chromosomal Location

36693978-36726804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36722350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 371 (S371P)

Ref Sequence

ENSEMBL: ENSMUSP00000087045 (fasta)

Gene Model

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

AlphaFold

Q8CBR1

Predicted Effect

probably benign
Transcript: ENSMUST00000023617
AA Change: S415P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: S415P

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: S371P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: S371P

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: S415P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: S415P

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	A	T	3: 37,083,340	I307F	probably damaging	Het
Adam15	G	A	3: 89,340,462	A789V	possibly damaging	Het
Bspry	A	G	4: 62,496,435	T422A	probably benign	Het
Btnl6	T	A	17: 34,515,674	D38V	possibly damaging	Het
Cd59b	G	A	2: 104,078,928	C18Y	probably damaging	Het
Clstn1	T	G	4: 149,631,842	I255R	probably damaging	Het
Dpp10	A	G	1: 123,686,270	L99P	possibly damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Emc1	A	T	4: 139,370,984	T759S	probably benign	Het
Fam126b	C	A	1: 58,540,191	R229L	probably damaging	Het
Fndc1	C	T	17: 7,765,398	G1232E	unknown	Het
Gjb3	C	T	4: 127,326,364	G125D	probably damaging	Het
Helb	A	G	10: 120,102,788	S594P	possibly damaging	Het
Kif1b	T	A	4: 149,214,976	R946W	probably damaging	Het
Lrp12	T	C	15: 39,877,904	T472A	probably damaging	Het
Lyst	A	G	13: 13,711,645	D3031G	probably benign	Het
Med12l	A	T	3: 59,261,976	T1596S	possibly damaging	Het
Myom1	A	C	17: 71,072,081		probably null	Het
Nhlrc2	T	A	19: 56,570,654	Y190*	probably null	Het
Nol4	A	T	18: 22,823,341	N115K	probably damaging	Het
Nrg1	T	A	8: 31,818,263		probably null	Het
Olfr844	T	A	9: 19,318,703	H56Q	probably damaging	Het
Oxld1	A	C	11: 120,456,888	L161R	probably damaging	Het
Phex	A	G	X: 157,186,275	S568P	probably damaging	Het
Pkd1	T	G	17: 24,569,699	S810R	probably benign	Het
Plin2	G	T	4: 86,664,486	C84*	probably null	Het
Ppfia3	A	T	7: 45,354,938		probably benign	Het
Ptpn14	A	G	1: 189,850,390	N478S	probably benign	Het
Pygl	A	G	12: 70,191,134	M801T	probably benign	Het
Recql5	A	G	11: 115,895,091	Y619H	probably benign	Het
Scn3a	C	A	2: 65,526,555	D182Y	possibly damaging	Het
Serpinb6e	T	C	13: 33,832,802	E316G	possibly damaging	Het
Shroom4	A	G	X: 6,583,944	E386G	possibly damaging	Het
Slc4a2	A	G	5: 24,429,434	S24G	probably benign	Het
Slc4a4	A	G	5: 89,129,649	I282V	probably benign	Het
Slc8b1	C	T	5: 120,520,853	R148C	probably damaging	Het
Stag2	A	G	X: 42,271,325		probably benign	Het
Styx	T	A	14: 45,372,465	H195Q	probably benign	Het
Sufu	A	G	19: 46,450,910	I190V	probably benign	Het
Svep1	A	G	4: 58,145,341		probably benign	Het
Tbc1d31	T	C	15: 57,937,948	I293T	probably benign	Het
Timp4	T	A	6: 115,246,483	I160F	probably damaging	Het
Tmem87a	A	T	2: 120,404,053	V3E	probably damaging	Het
Utp4	T	A	8: 106,906,241	H285Q	probably benign	Het
Vrk1	T	G	12: 106,062,653	S305A	probably benign	Het
Zfp329	G	T	7: 12,811,179	H139Q	possibly damaging	Het

Other mutations in Ildr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16