Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02444:Itpripl1'

293517

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itpripl1

Ensembl Gene

ENSMUSG00000074825

Gene Name

inositol 1,4,5-triphosphate receptor interacting protein-like 1

Synonyms

1700041B20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02444

Quality Score

Status

Chromosome

Chromosomal Location

126980692-126985362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126983621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 167 (H167P)

Ref Sequence

ENSEMBL: ENSMUSP00000122289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110386] [ENSMUST00000132773] [ENSMUST00000154021]

AlphaFold

A2ASA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110386
AA Change: H167P

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106016
Gene: ENSMUSG00000074825
AA Change: H167P

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	32	66	N/A	INTRINSIC
low complexity region	131	140	N/A	INTRINSIC
Mab-21	214	533	1.66e-66	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000132773
AA Change: I85L

SMART Domains

Protein: ENSMUSP00000118487
Gene: ENSMUSG00000074825
AA Change: I85L

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	32	66	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154021
AA Change: H167P

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122289
Gene: ENSMUSG00000074825
AA Change: H167P

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	32	66	N/A	INTRINSIC
low complexity region	131	140	N/A	INTRINSIC
Mab-21	214	533	1.66e-66	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,022,710 (GRCm39)	I260T	possibly damaging	Het
Arhgap9	T	A	10: 127,163,816 (GRCm39)	V484D	probably damaging	Het
Asph	A	G	4: 9,542,319 (GRCm39)		probably benign	Het
Bbs9	T	C	9: 22,555,083 (GRCm39)	S457P	probably damaging	Het
Bckdk	A	G	7: 127,506,618 (GRCm39)	T38A	probably damaging	Het
Cast	G	A	13: 74,887,972 (GRCm39)	T240I	probably damaging	Het
Cdc27	T	C	11: 104,413,542 (GRCm39)		probably benign	Het
Cdon	T	C	9: 35,384,744 (GRCm39)	S677P	probably benign	Het
Cfap161	T	C	7: 83,425,353 (GRCm39)	E246G	probably damaging	Het
Dnah11	G	A	12: 117,939,608 (GRCm39)		probably benign	Het
Dnm3	C	T	1: 161,838,444 (GRCm39)	V835I	possibly damaging	Het
Eif3a	T	C	19: 60,762,045 (GRCm39)	H510R	possibly damaging	Het
Fbxw2	G	T	2: 34,695,793 (GRCm39)	T367K	probably benign	Het
Ghsr	T	C	3: 27,426,189 (GRCm39)	S82P	probably benign	Het
Gm4353	C	T	7: 115,682,679 (GRCm39)	V301I	probably benign	Het
Golgb1	T	C	16: 36,728,178 (GRCm39)		probably benign	Het
Gria2	T	A	3: 80,609,860 (GRCm39)	M650L	possibly damaging	Het
Herc4	T	C	10: 63,142,212 (GRCm39)	V671A	probably benign	Het
Iqcb1	T	A	16: 36,652,273 (GRCm39)	Y61*	probably null	Het
Irs2	C	T	8: 11,056,306 (GRCm39)	G709S	probably benign	Het
Kcnn3	T	C	3: 89,559,359 (GRCm39)	V543A	possibly damaging	Het
Klf10	T	A	15: 38,298,068 (GRCm39)	K43M	probably damaging	Het
Lcor	C	T	19: 41,547,450 (GRCm39)	R345C	probably damaging	Het
Lmntd2	A	G	7: 140,791,832 (GRCm39)	S304P	probably damaging	Het
Lpar3	T	C	3: 145,946,949 (GRCm39)	I209T	probably damaging	Het
Map3k13	T	A	16: 21,732,982 (GRCm39)	M528K	probably benign	Het
Me1	A	T	9: 86,464,967 (GRCm39)		probably benign	Het
Nedd4l	T	G	18: 65,337,028 (GRCm39)		probably benign	Het
Oas1d	T	A	5: 121,058,071 (GRCm39)	F338L	probably benign	Het
Or1b1	G	T	2: 36,994,786 (GRCm39)	P292Q	probably damaging	Het
Or2c1	T	C	16: 3,657,551 (GRCm39)	F238S	probably damaging	Het
Pcdhb5	T	C	18: 37,454,103 (GRCm39)	V161A	probably benign	Het
Prdx3	A	T	19: 60,859,899 (GRCm39)	F91L	possibly damaging	Het
Rab25	T	C	3: 88,450,020 (GRCm39)	T114A	probably benign	Het
Rasal2	T	C	1: 157,126,765 (GRCm39)	E73G	probably benign	Het
Slco4c1	A	G	1: 96,772,234 (GRCm39)	S252P	probably damaging	Het
Srgap2	A	C	1: 131,252,891 (GRCm39)		probably null	Het
Synpo	A	G	18: 60,735,502 (GRCm39)	S576P	probably damaging	Het
Tktl2	G	T	8: 66,966,013 (GRCm39)	A524S	possibly damaging	Het
Tln2	A	T	9: 67,165,874 (GRCm39)		probably benign	Het
Tmem52	G	A	4: 155,554,850 (GRCm39)	D158N	probably damaging	Het
Tyw3	T	A	3: 154,302,626 (GRCm39)	Q36L	probably damaging	Het
Usp10	A	T	8: 120,675,432 (GRCm39)	I483F	possibly damaging	Het
Usp31	A	G	7: 121,278,718 (GRCm39)	Y216H	probably damaging	Het
Vmn1r181	T	C	7: 23,683,948 (GRCm39)	S138P	probably damaging	Het
Vmn2r42	G	T	7: 8,187,312 (GRCm39)	A770E	probably damaging	Het
Zfp292	A	C	4: 34,808,810 (GRCm39)	S1411R	possibly damaging	Het

Other mutations in Itpripl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02978:Itpripl1	APN	2	126,982,932 (GRCm39)	missense	probably damaging	1.00
R0328:Itpripl1	UTSW	2	126,983,924 (GRCm39)	missense	possibly damaging	0.94
R0579:Itpripl1	UTSW	2	126,983,011 (GRCm39)	nonsense	probably null
R1178:Itpripl1	UTSW	2	126,983,819 (GRCm39)	missense	probably benign	0.05
R1623:Itpripl1	UTSW	2	126,983,555 (GRCm39)	missense	possibly damaging	0.78
R1956:Itpripl1	UTSW	2	126,983,927 (GRCm39)	missense	probably damaging	0.98
R2877:Itpripl1	UTSW	2	126,983,534 (GRCm39)	missense	probably benign	0.00
R2878:Itpripl1	UTSW	2	126,983,534 (GRCm39)	missense	probably benign	0.00
R4949:Itpripl1	UTSW	2	126,983,327 (GRCm39)	missense	probably benign	0.13
R5161:Itpripl1	UTSW	2	126,983,777 (GRCm39)	missense	probably damaging	1.00
R5236:Itpripl1	UTSW	2	126,983,770 (GRCm39)	missense	probably damaging	1.00
R5364:Itpripl1	UTSW	2	126,983,739 (GRCm39)	missense	possibly damaging	0.60
R5637:Itpripl1	UTSW	2	126,984,044 (GRCm39)	missense	probably damaging	1.00
R5715:Itpripl1	UTSW	2	126,983,927 (GRCm39)	missense	probably damaging	0.98
R7545:Itpripl1	UTSW	2	126,983,581 (GRCm39)	nonsense	probably null
R8409:Itpripl1	UTSW	2	126,982,686 (GRCm39)	missense	probably benign	0.44
R8708:Itpripl1	UTSW	2	126,983,262 (GRCm39)	missense	probably benign
R9321:Itpripl1	UTSW	2	126,984,000 (GRCm39)	missense	probably benign	0.03
R9452:Itpripl1	UTSW	2	126,983,334 (GRCm39)	nonsense	probably null

Posted On

2015-04-16