Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03123:Pitpnc1'

410072

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: 0.114) question?

Stock #

IGL03123

Quality Score

Status

Chromosome

Chromosomal Location

107098718-107361525 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 107228237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040380] [ENSMUST00000103064] [ENSMUST00000134763]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000040380

SMART Domains

Protein: ENSMUSP00000046337
Gene: ENSMUSG00000040430

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 null
Transcript: ENSMUST00000103064

SMART Domains

Protein: ENSMUSP00000099353
Gene: ENSMUSG00000040430

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

Predicted Effect

probably null
Transcript: ENSMUST00000134763

SMART Domains

Protein: ENSMUSP00000122609
Gene: ENSMUSG00000040430

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	196	8.5e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154414

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
Caprin2	G	T	6: 148,796,505 (GRCm39)	A36E	probably damaging	Het
Castor1	A	T	11: 4,170,278 (GRCm39)	T119S	probably damaging	Het
Dnase1l2	T	C	17: 24,661,226 (GRCm39)	M28V	possibly damaging	Het
Eci1	T	A	17: 24,655,300 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,855 (GRCm39)	S178T	probably damaging	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Exoc3l4	A	G	12: 111,388,547 (GRCm39)	E12G	probably damaging	Het
Frmd7	G	A	X: 49,984,835 (GRCm39)	T445I	probably benign	Het
Golga4	A	G	9: 118,365,953 (GRCm39)	E344G	probably damaging	Het
H2-M10.4	A	G	17: 36,772,812 (GRCm39)	Y57H	probably damaging	Het
Hnmt	T	C	2: 23,909,171 (GRCm39)	I81V	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Htra3	C	T	5: 35,823,477 (GRCm39)	V280I	probably damaging	Het
Impg2	G	T	16: 56,087,485 (GRCm39)	E992D	probably damaging	Het
Kctd4	T	C	14: 76,200,418 (GRCm39)	W130R	possibly damaging	Het
Kdm3b	T	A	18: 34,942,544 (GRCm39)		probably null	Het
Kmt2d	G	A	15: 98,759,652 (GRCm39)	T1202M	unknown	Het
Lrp11	A	T	10: 7,478,689 (GRCm39)	D326V	probably damaging	Het
Lrrcc1	A	T	3: 14,601,144 (GRCm39)	I59F	probably damaging	Het
Lyg2	G	A	1: 37,954,845 (GRCm39)		probably benign	Het
Med16	A	G	10: 79,732,667 (GRCm39)	V699A	probably damaging	Het
Myo18b	G	T	5: 113,022,804 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,531,767 (GRCm39)	T744A	probably damaging	Het
Or1e1f	T	A	11: 73,855,812 (GRCm39)	I126N	probably damaging	Het
Oser1	A	T	2: 163,253,309 (GRCm39)		probably benign	Het
Pcdhgc5	T	C	18: 37,952,966 (GRCm39)	V80A	probably benign	Het
Pi4ka	C	T	16: 17,100,539 (GRCm39)	G1857D	possibly damaging	Het
Pofut2	A	G	10: 77,102,844 (GRCm39)	E137G	probably benign	Het
Rgsl1	A	T	1: 153,701,687 (GRCm39)	W291R	probably damaging	Het
Rnf113a2	T	C	12: 84,465,050 (GRCm39)	I314T	probably benign	Het
Rps2	C	T	17: 24,939,263 (GRCm39)		probably benign	Het
Setbp1	T	C	18: 78,900,224 (GRCm39)	K1148E	probably damaging	Het
Slc45a2	A	G	15: 11,012,741 (GRCm39)	D248G	probably benign	Het
Slit2	G	T	5: 48,368,681 (GRCm39)	R352L	probably damaging	Het
Smg1	A	G	7: 117,756,404 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 177,994,272 (GRCm39)	C1217*	probably null	Het
Tbcb	A	G	7: 29,926,261 (GRCm39)		probably benign	Het
Tinf2	T	C	14: 55,918,346 (GRCm39)	D128G	probably damaging	Het
Traf3ip2	A	G	10: 39,515,218 (GRCm39)	D332G	possibly damaging	Het
Tram1	A	G	1: 13,659,829 (GRCm39)	F40L	probably benign	Het
Trank1	A	T	9: 111,196,475 (GRCm39)	I1500L	probably damaging	Het
Wdfy4	G	A	14: 32,884,827 (GRCm39)	P25L	probably benign	Het
Wnt5a	G	T	14: 28,244,882 (GRCm39)	Q376H	probably damaging	Het
Zfp526	A	C	7: 24,924,049 (GRCm39)	T103P	probably benign	Het

Other mutations in Pitpnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Pitpnc1	APN	11	107,103,469 (GRCm39)	missense	possibly damaging	0.89
IGL02565:Pitpnc1	APN	11	107,187,059 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02