Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00087:Pitpnc1'

1111

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pitpnc1

Ensembl Gene

ENSMUSG00000040430

Gene Name

phosphatidylinositol transfer protein, cytoplasmic 1

Synonyms

RDGB-BETA, 1110020B03Rik, 5830436L09Rik, RDGBB1, C330017I21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

107098718-107361525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107103469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 210 (E210G)

Ref Sequence

ENSEMBL: ENSMUSP00000046337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040380] [ENSMUST00000103064]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040380
AA Change: E210G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046337
Gene: ENSMUSG00000040430
AA Change: E210G

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	220	6.1e-98	PFAM
low complexity region	230	258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103064

SMART Domains

Protein: ENSMUSP00000099353
Gene: ENSMUSG00000040430

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	245	9.4e-88	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,473,282 (GRCm39)		probably benign	Het
Actr2	C	A	11: 20,044,370 (GRCm39)	V79L	probably benign	Het
Ankrd36	A	C	11: 5,570,131 (GRCm39)	Y533S	probably benign	Het
Btnl1	A	T	17: 34,600,091 (GRCm39)	D198V	probably damaging	Het
Carmil2	T	A	8: 106,418,038 (GRCm39)	I684N	probably benign	Het
Cdk17	T	A	10: 93,062,633 (GRCm39)	V257D	probably damaging	Het
Ctsj	T	G	13: 61,149,232 (GRCm39)	S271R	possibly damaging	Het
Cul9	T	A	17: 46,836,635 (GRCm39)	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,988,993 (GRCm39)	S131I	unknown	Het
Dab1	G	A	4: 104,536,007 (GRCm39)	V139M	probably damaging	Het
Dab1	A	T	4: 104,535,950 (GRCm39)	I120F	possibly damaging	Het
Dnah2	A	G	11: 69,383,498 (GRCm39)	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,529,533 (GRCm39)	T326I	probably damaging	Het
Eif3k	A	C	7: 28,674,101 (GRCm39)		probably benign	Het
Fam76b	T	C	9: 13,748,180 (GRCm39)	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,311,712 (GRCm39)	V167A	probably benign	Het
Gfap	T	A	11: 102,779,544 (GRCm39)	I418F	possibly damaging	Het
Grm5	T	C	7: 87,779,989 (GRCm39)	V1143A	probably benign	Het
Itpr2	A	G	6: 146,298,510 (GRCm39)	I317T	probably damaging	Het
Itprid1	T	A	6: 55,945,022 (GRCm39)	L581Q	possibly damaging	Het
Kcnn2	A	C	18: 45,725,303 (GRCm39)	R266S	probably damaging	Het
Kntc1	T	A	5: 123,928,222 (GRCm39)	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,739,871 (GRCm39)	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Pax9	A	G	12: 56,746,860 (GRCm39)	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,526,586 (GRCm39)	S108P	possibly damaging	Het
Prdm10	T	C	9: 31,272,108 (GRCm39)		probably benign	Het
Prl4a1	G	A	13: 28,205,443 (GRCm39)	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,961,994 (GRCm39)	S255G	probably benign	Het
Rimbp3	T	G	16: 17,027,607 (GRCm39)	S344A	probably benign	Het
Rint1	A	G	5: 23,999,429 (GRCm39)	T73A	probably benign	Het
Rnf145	T	C	11: 44,446,039 (GRCm39)	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,103,714 (GRCm39)	L221*	probably null	Het
Scn11a	A	G	9: 119,599,572 (GRCm39)	L1114P	probably benign	Het
Slc44a4	A	G	17: 35,149,216 (GRCm39)		probably benign	Het
Sorl1	A	C	9: 41,885,390 (GRCm39)	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,630,941 (GRCm39)		probably benign	Het
Speer1k	C	T	5: 10,997,805 (GRCm39)		probably benign	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Srsf6	G	T	2: 162,773,627 (GRCm39)	V13F	probably damaging	Het
Stab1	G	T	14: 30,883,314 (GRCm39)	T336N	probably benign	Het
Strbp	A	G	2: 37,476,516 (GRCm39)		probably benign	Het
Tbc1d4	A	G	14: 101,845,548 (GRCm39)	F117L	probably damaging	Het
Tcf20	A	G	15: 82,739,096 (GRCm39)	V785A	probably damaging	Het
Ticrr	A	G	7: 79,327,031 (GRCm39)	K580E	probably damaging	Het
Ubr4	A	T	4: 139,192,633 (GRCm39)	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,149,681 (GRCm39)	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,830,130 (GRCm39)	F7S	probably benign	Het
Zan	C	T	5: 137,386,082 (GRCm39)		probably null	Het
Zfp819	T	A	7: 43,261,403 (GRCm39)		probably benign	Het

Other mutations in Pitpnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02565:Pitpnc1	APN	11	107,187,059 (GRCm39)	missense	probably damaging	1.00
IGL03123:Pitpnc1	APN	11	107,228,237 (GRCm39)	critical splice donor site	probably null
R1674:Pitpnc1	UTSW	11	107,117,071 (GRCm39)	missense	possibly damaging	0.81
R2147:Pitpnc1	UTSW	11	107,103,344 (GRCm39)	missense	probably damaging	0.98
R3082:Pitpnc1	UTSW	11	107,103,350 (GRCm39)	missense	possibly damaging	0.95
R3857:Pitpnc1	UTSW	11	107,211,631 (GRCm39)	splice site	probably null
R4449:Pitpnc1	UTSW	11	107,107,535 (GRCm39)	missense	probably benign	0.01
R5044:Pitpnc1	UTSW	11	107,187,054 (GRCm39)	missense	possibly damaging	0.90
R5076:Pitpnc1	UTSW	11	107,187,093 (GRCm39)	missense	probably damaging	1.00
R5729:Pitpnc1	UTSW	11	107,228,264 (GRCm39)	missense	probably benign	0.00
R6267:Pitpnc1	UTSW	11	107,117,092 (GRCm39)	missense	probably damaging	1.00
R6296:Pitpnc1	UTSW	11	107,117,092 (GRCm39)	missense	probably damaging	1.00
R6597:Pitpnc1	UTSW	11	107,117,058 (GRCm39)	nonsense	probably null
R7411:Pitpnc1	UTSW	11	107,103,398 (GRCm39)	missense	probably damaging	0.99
R8804:Pitpnc1	UTSW	11	107,103,431 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-07-12