Mutagenetix > Incidental Mutation

Incidental Mutation 'R6354:Inpp1'

512941

Institutional Source

Beutler Lab

Gene Symbol

Inpp1

Ensembl Gene

ENSMUSG00000026102

Gene Name

inositol polyphosphate-1-phosphatase

Synonyms

2300002C06Rik

MMRRC Submission

044506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52824586-52856847 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52836224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 81 (S81P)

Ref Sequence

ENSEMBL: ENSMUSP00000124890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027271] [ENSMUST00000159725] [ENSMUST00000162576] [ENSMUST00000177279]

AlphaFold

P49442

Predicted Effect

probably damaging
Transcript: ENSMUST00000027271
AA Change: S81P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027271
Gene: ENSMUSG00000026102
AA Change: S81P

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	56	378	5.4e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159607

Predicted Effect

probably benign
Transcript: ENSMUST00000159725

SMART Domains

Protein: ENSMUSP00000123977
Gene: ENSMUSG00000026102

Domain	Start	End	E-Value	Type
PDB:1INP\|A	1	80	4e-36	PDB
SCOP:d1inp__	1	80	8e-37	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162351

Predicted Effect

probably damaging
Transcript: ENSMUST00000162576
AA Change: S81P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124890
Gene: ENSMUSG00000026102
AA Change: S81P

Domain	Start	End	E-Value	Type
PDB:1INP\|A	1	90	8e-43	PDB
SCOP:d1inp__	1	90	5e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177279

SMART Domains

Protein: ENSMUSP00000135225
Gene: ENSMUSG00000026102

Domain	Start	End	E-Value	Type
PDB:1INP\|A	1	68	8e-27	PDB
SCOP:d1inp__	1	68	1e-31	SMART
low complexity region	71	90	N/A	INTRINSIC

Meta Mutation Damage Score

0.6016

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a targeted allele exhibit decreased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,685,042 (GRCm39)	K152E	probably benign	Het
Adamts20	C	A	15: 94,245,691 (GRCm39)	C537F	probably damaging	Het
Apc	A	T	18: 34,445,581 (GRCm39)	T808S	probably benign	Het
Atad3a	A	G	4: 155,838,402 (GRCm39)	I205T	possibly damaging	Het
Casz1	G	T	4: 149,036,999 (GRCm39)	G1754C	unknown	Het
Ccdc62	C	T	5: 124,082,267 (GRCm39)	A232V	probably damaging	Het
Cdc27	C	A	11: 104,425,574 (GRCm39)	D81Y	probably damaging	Het
Cep126	A	G	9: 8,099,928 (GRCm39)	S869P	probably damaging	Het
Cfap251	C	T	5: 123,440,818 (GRCm39)	T1125I	probably damaging	Het
Ciita	A	T	16: 10,341,610 (GRCm39)	K983N	probably damaging	Het
Cimap1a	A	G	7: 140,430,527 (GRCm39)		probably null	Het
Clstn1	A	C	4: 149,727,673 (GRCm39)	Q523P	probably benign	Het
Cpb2	T	C	14: 75,495,145 (GRCm39)		probably null	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Csmd3	C	T	15: 47,744,885 (GRCm39)	G1370D	probably damaging	Het
Cwf19l1	G	T	19: 44,115,912 (GRCm39)	D172E	probably benign	Het
Cyp4a14	A	G	4: 115,344,441 (GRCm39)	F475L	probably damaging	Het
Fam98c	C	T	7: 28,852,272 (GRCm39)	V298M	probably damaging	Het
Gcsh	T	C	8: 117,710,582 (GRCm39)	N127S	probably benign	Het
Gimap4	T	C	6: 48,663,814 (GRCm39)	F10S	possibly damaging	Het
Gm4787	C	T	12: 81,424,755 (GRCm39)	A468T	probably damaging	Het
Gm5111	G	A	6: 48,567,268 (GRCm39)		probably benign	Het
Gm7137	C	A	10: 77,623,481 (GRCm39)		probably benign	Het
Iqce	T	C	5: 140,662,090 (GRCm39)		probably null	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Krtap13	C	A	16: 88,548,131 (GRCm39)	C119F	probably damaging	Het
Lama2	G	T	10: 27,088,064 (GRCm39)	D904E	probably damaging	Het
Lrrc37a	T	A	11: 103,355,213 (GRCm39)	I2535F	unknown	Het
Lrrc40	T	A	3: 157,766,901 (GRCm39)	L452*	probably null	Het
Meis1	A	T	11: 18,966,184 (GRCm39)	M63K	possibly damaging	Het
Mpo	T	A	11: 87,688,172 (GRCm39)	I277N	possibly damaging	Het
Mtmr11	T	A	3: 96,075,992 (GRCm39)	F406I	probably benign	Het
Muc4	T	C	16: 32,575,476 (GRCm39)	S1411P	probably benign	Het
Or2y1b	A	T	11: 49,208,465 (GRCm39)	I31F	probably damaging	Het
Or4c102	T	A	2: 88,422,478 (GRCm39)	I110N	probably damaging	Het
Or56a5	G	A	7: 104,792,915 (GRCm39)	T195I	probably benign	Het
Phf21a	G	A	2: 92,179,282 (GRCm39)	G298R	probably damaging	Het
Phldb2	T	C	16: 45,645,477 (GRCm39)	Y368C	probably damaging	Het
Pik3cb	G	T	9: 98,955,696 (GRCm39)	T407K	probably benign	Het
Robo3	A	T	9: 37,328,513 (GRCm39)		probably benign	Het
Sgsm1	T	G	5: 113,430,522 (GRCm39)	T288P	probably damaging	Het
Slc5a7	A	G	17: 54,584,061 (GRCm39)	S410P	probably damaging	Het
Tmc6	A	C	11: 117,665,062 (GRCm39)	C404G	probably benign	Het
Tnrc6c	A	T	11: 117,640,440 (GRCm39)	Q1410L	possibly damaging	Het
Trak1	A	T	9: 121,280,792 (GRCm39)	T384S	probably null	Het
Txlna	A	T	4: 129,528,205 (GRCm39)	L244Q	probably damaging	Het
Ube3c	T	C	5: 29,868,581 (GRCm39)	F939L	probably damaging	Het
Vmn2r65	T	A	7: 84,589,574 (GRCm39)	I781F	probably benign	Het
Vmn2r72	A	G	7: 85,399,747 (GRCm39)		probably null	Het
Vps36	T	C	8: 22,695,771 (GRCm39)	S109P	probably damaging	Het
Wrn	T	C	8: 33,833,666 (GRCm39)	I82M	possibly damaging	Het
Zbtb49	T	C	5: 38,360,903 (GRCm39)	R511G	possibly damaging	Het
Zeb1	A	G	18: 5,772,743 (GRCm39)	T1011A	possibly damaging	Het
Zfhx4	T	C	3: 5,467,011 (GRCm39)	S2390P	probably benign	Het
Zfp619	C	A	7: 39,184,243 (GRCm39)	T91K	probably benign	Het
Zfp644	A	G	5: 106,784,619 (GRCm39)	S643P	probably benign	Het

Other mutations in Inpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03343:Inpp1	APN	1	52,838,486 (GRCm39)	missense	probably damaging	1.00
R0344:Inpp1	UTSW	1	52,838,513 (GRCm39)	missense	probably damaging	1.00
R1356:Inpp1	UTSW	1	52,836,215 (GRCm39)	missense	possibly damaging	0.95
R1465:Inpp1	UTSW	1	52,829,253 (GRCm39)	missense	probably benign
R1465:Inpp1	UTSW	1	52,829,253 (GRCm39)	missense	probably benign
R1907:Inpp1	UTSW	1	52,828,829 (GRCm39)	makesense	probably null
R1954:Inpp1	UTSW	1	52,833,788 (GRCm39)	missense	probably damaging	1.00
R2033:Inpp1	UTSW	1	52,829,332 (GRCm39)	missense	possibly damaging	0.71
R2104:Inpp1	UTSW	1	52,838,577 (GRCm39)	missense	probably damaging	1.00
R2224:Inpp1	UTSW	1	52,829,290 (GRCm39)	missense	probably benign	0.07
R3508:Inpp1	UTSW	1	52,838,550 (GRCm39)	missense	probably damaging	1.00
R4682:Inpp1	UTSW	1	52,833,760 (GRCm39)	missense	probably benign	0.00
R5252:Inpp1	UTSW	1	52,833,706 (GRCm39)	missense	probably benign	0.00
R5590:Inpp1	UTSW	1	52,833,820 (GRCm39)	missense	probably damaging	0.96
R9196:Inpp1	UTSW	1	52,833,778 (GRCm39)	missense	probably damaging	1.00
R9255:Inpp1	UTSW	1	52,829,306 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCCAAGAAACCACCTTGCTTC -3'
(R):5'- AAGTTGACTTCTGCAATGGGTG -3'

Sequencing Primer
(F):5'- AAATGTCATGGTATTCTGAGGTAGAG -3'
(R):5'- CAATGGGTGTTTTTGAGTTTCAGATC -3'

Posted On

2018-04-27