Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01598:Pcif1'

91745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcif1

Ensembl Gene

ENSMUSG00000039849

Gene Name

PDX1 C-terminal inhibiting factor 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

IGL01598

Quality Score

Status

Chromosome

Chromosomal Location

164879304-164894454 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164886611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 263 (F263L)

Ref Sequence

ENSEMBL: ENSMUSP00000039555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041643]

AlphaFold

P59114

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041643
AA Change: F263L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849
AA Change: F263L

Domain	Start	End	E-Value	Type
WW	44	77	4.34e-4	SMART
low complexity region	132	148	N/A	INTRINSIC
Pfam:PCIF1_WW	445	620	7.1e-74	PFAM
low complexity region	675	686	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145327

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410124H12Rik	T	A	16: 92,478,929		noncoding transcript	Het
Apc2	T	A	10: 80,313,048	L1283Q	probably damaging	Het
Apol6	G	A	15: 77,050,716	A62T	probably damaging	Het
AU018091	A	T	7: 3,162,270	I204N	possibly damaging	Het
B4galnt4	G	T	7: 141,070,515	R765L	probably benign	Het
Brca1	T	C	11: 101,524,330	T993A	probably benign	Het
Cadps	C	T	14: 12,522,202		probably null	Het
Ccdc177	A	G	12: 80,758,745	S252P	unknown	Het
Cdc73	A	G	1: 143,699,279	S59P	probably damaging	Het
Cep63	G	T	9: 102,590,458	Q570K	possibly damaging	Het
Ces1c	A	T	8: 93,118,413	I120K	probably benign	Het
Cpeb1	T	C	7: 81,361,801	M131V	probably benign	Het
Dync1h1	G	A	12: 110,658,128	V3701I	probably damaging	Het
Fxr1	T	C	3: 34,064,232	S535P	possibly damaging	Het
Gldc	A	T	19: 30,133,756	V540D	probably damaging	Het
Iqcf6	A	G	9: 106,627,508	T124A	probably benign	Het
Itih4	A	G	14: 30,887,817	I35V	possibly damaging	Het
Kmt2c	T	C	5: 25,273,666	*1525W	probably null	Het
Kmt2c	A	T	5: 25,354,771	V963E	probably damaging	Het
Lmnb2	T	C	10: 80,907,165	S202G	probably benign	Het
Med23	T	G	10: 24,903,798	S924R	probably benign	Het
Olfr1454	T	C	19: 13,064,149	V246A	probably damaging	Het
Pon2	A	T	6: 5,272,331	L163H	probably damaging	Het
Scn1a	C	T	2: 66,302,485	V165M	possibly damaging	Het
Sema6d	C	A	2: 124,665,098	P961Q	probably damaging	Het
Snx27	A	G	3: 94,561,843	Y64H	probably damaging	Het
Srsf11	C	T	3: 158,012,035		probably benign	Het
Taok1	A	G	11: 77,571,684	V193A	probably damaging	Het
Vps13d	T	C	4: 145,016,901	T4137A	probably benign	Het
Zbtb26	T	C	2: 37,436,271	Y251C	probably damaging	Het
Zcchc11	A	G	4: 108,550,820		probably benign	Het

Other mutations in Pcif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Pcif1	APN	2	164885788	missense	probably damaging	1.00
R0313:Pcif1	UTSW	2	164884419	missense	probably damaging	0.97
R0329:Pcif1	UTSW	2	164889444	missense	probably damaging	1.00
R0330:Pcif1	UTSW	2	164889444	missense	probably damaging	1.00
R1070:Pcif1	UTSW	2	164889138	missense	probably benign	0.01
R1350:Pcif1	UTSW	2	164886767	missense	probably damaging	0.99
R1467:Pcif1	UTSW	2	164889138	missense	probably benign	0.01
R1467:Pcif1	UTSW	2	164889138	missense	probably benign	0.01
R1583:Pcif1	UTSW	2	164886727	missense	probably damaging	1.00
R1640:Pcif1	UTSW	2	164885683	missense	probably benign
R1852:Pcif1	UTSW	2	164888466	missense	probably damaging	0.97
R2252:Pcif1	UTSW	2	164890879	missense	probably benign	0.05
R2571:Pcif1	UTSW	2	164884211	missense	probably damaging	1.00
R3879:Pcif1	UTSW	2	164885958	missense	probably benign	0.40
R4956:Pcif1	UTSW	2	164889690	missense	probably damaging	1.00
R5792:Pcif1	UTSW	2	164885379	missense	probably damaging	0.97
R5913:Pcif1	UTSW	2	164884492	intron	probably benign
R6798:Pcif1	UTSW	2	164885791	missense	possibly damaging	0.94
R6913:Pcif1	UTSW	2	164884304	critical splice acceptor site	probably null
R7359:Pcif1	UTSW	2	164884331	missense	probably damaging	1.00
R7453:Pcif1	UTSW	2	164888364	missense	probably damaging	1.00
R7453:Pcif1	UTSW	2	164889630	missense	possibly damaging	0.94
R7917:Pcif1	UTSW	2	164888472	missense	probably benign	0.08
R8031:Pcif1	UTSW	2	164886522	missense	probably damaging	1.00
R8474:Pcif1	UTSW	2	164888352	missense	probably damaging	1.00
R8519:Pcif1	UTSW	2	164884383	missense	probably damaging	1.00
R8553:Pcif1	UTSW	2	164886497	missense	probably damaging	1.00
R8766:Pcif1	UTSW	2	164885426	missense	probably benign	0.00

Posted On

2013-12-09