Mutagenetix > Incidental Mutation

Incidental Mutation 'R5792:Pcif1'

447007

Institutional Source

Beutler Lab

Gene Symbol

Pcif1

Ensembl Gene

ENSMUSG00000039849

Gene Name

phosphorylated CTD interacting factor 1

Synonyms

F730014I05Rik, 2310022K11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R5792 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164721288-164733360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164727299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 90 (N90K)

Ref Sequence

ENSEMBL: ENSMUSP00000039555 (fasta)

Gene Model

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

AlphaFold

P59114

Predicted Effect

probably damaging
Transcript: ENSMUST00000041643
AA Change: N90K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849
AA Change: N90K

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

Meta Mutation Damage Score

0.1199

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

95% (56/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,945 (GRCm39)	I296F	possibly damaging	Het
Adamts19	C	T	18: 58,970,584 (GRCm39)	T56M	possibly damaging	Het
Axdnd1	T	G	1: 156,169,459 (GRCm39)	E802D	probably damaging	Het
Birc6	T	C	17: 74,938,048 (GRCm39)	V2630A	probably benign	Het
Capn5	A	T	7: 97,780,402 (GRCm39)	F323I	probably benign	Het
Ccn1	T	C	3: 145,354,413 (GRCm39)	D166G	probably benign	Het
Cdc25b	A	G	2: 131,033,679 (GRCm39)	E206G	probably damaging	Het
Cmah	T	G	13: 24,640,898 (GRCm39)	N382K	probably benign	Het
Col11a1	A	T	3: 113,925,242 (GRCm39)	D25V	probably damaging	Het
Cyp2d41-ps	G	T	15: 82,663,421 (GRCm39)		noncoding transcript	Het
Cyp3a59	A	G	5: 146,036,661 (GRCm39)	K288E	possibly damaging	Het
Dclre1a	A	C	19: 56,518,022 (GRCm39)	I1019S	probably damaging	Het
Fat2	G	T	11: 55,153,151 (GRCm39)	A3687D	possibly damaging	Het
Flg2	T	A	3: 93,110,804 (GRCm39)	V944E	unknown	Het
Galntl5	T	C	5: 25,403,461 (GRCm39)	V177A	possibly damaging	Het
Gm12695	T	C	4: 96,616,520 (GRCm39)	T438A	probably benign	Het
Gm14295	A	T	2: 176,502,807 (GRCm39)	N766Y	probably benign	Het
Gm15433	T	A	1: 84,941,833 (GRCm39)		noncoding transcript	Het
Gm2431	C	T	7: 141,812,069 (GRCm39)	G8E	unknown	Het
Gm5435	T	A	12: 82,542,200 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grip1	T	C	10: 119,821,385 (GRCm39)	I350T	probably benign	Het
Guf1	T	A	5: 69,717,829 (GRCm39)	F196I	probably damaging	Het
Kcng4	G	T	8: 120,353,018 (GRCm39)	D297E	probably damaging	Het
Khdrbs2	G	A	1: 32,511,773 (GRCm39)	R246Q	probably damaging	Het
Layn	T	C	9: 50,979,461 (GRCm39)	E148G	probably damaging	Het
Lrig3	T	A	10: 125,845,788 (GRCm39)	V739E	probably damaging	Het
Lyg1	A	G	1: 37,986,348 (GRCm39)	W129R	probably benign	Het
Nup210l	C	T	3: 90,107,164 (GRCm39)	T1567I	probably damaging	Het
Nus1	T	A	10: 52,305,352 (GRCm39)	L12*	probably null	Het
Odad2	T	C	18: 7,217,965 (GRCm39)	N583S	probably benign	Het
Or1n2	A	G	2: 36,797,113 (GRCm39)	I52V	probably benign	Het
Or6a2	A	T	7: 106,600,650 (GRCm39)	V139D	possibly damaging	Het
Otop1	A	G	5: 38,455,260 (GRCm39)	N218S	probably benign	Het
Phf2	T	C	13: 48,973,518 (GRCm39)		probably null	Het
Piezo2	T	A	18: 63,279,927 (GRCm39)	I215F	probably damaging	Het
Pitpnm2	G	T	5: 124,268,384 (GRCm39)	C553*	probably null	Het
Prdm1	A	G	10: 44,326,224 (GRCm39)	V115A	probably damaging	Het
Prkdc	A	G	16: 15,634,616 (GRCm39)	D3587G	probably damaging	Het
Sez6l	A	T	5: 112,569,890 (GRCm39)	Y883*	probably null	Het
Sh3rf2	A	C	18: 42,244,203 (GRCm39)	H223P	probably damaging	Het
Slco1a5	C	T	6: 142,187,839 (GRCm39)	C500Y	probably damaging	Het
Slf1	T	A	13: 77,214,856 (GRCm39)	H610L	probably benign	Het
Syn3	T	C	10: 86,130,492 (GRCm39)	*244W	probably null	Het
Sytl2	A	T	7: 90,024,897 (GRCm39)	D295V	probably damaging	Het
Tnfrsf1a	T	A	6: 125,335,040 (GRCm39)	C44S	probably damaging	Het
Ttc6	T	G	12: 57,719,990 (GRCm39)	L854V	possibly damaging	Het
Ttn	T	C	2: 76,596,602 (GRCm39)	I18358V	probably benign	Het
Vmn2r108	A	G	17: 20,683,398 (GRCm39)	V602A	probably damaging	Het
Zap70	A	G	1: 36,818,090 (GRCm39)		probably benign	Het
Zfhx2	T	C	14: 55,304,303 (GRCm39)	E1227G	possibly damaging	Het
Znhit3	G	A	11: 84,806,910 (GRCm39)		probably null	Het
Zpbp2	A	G	11: 98,442,236 (GRCm39)		probably benign	Het

Other mutations in Pcif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Pcif1	APN	2	164,727,708 (GRCm39)	missense	probably damaging	1.00
IGL01598:Pcif1	APN	2	164,728,531 (GRCm39)	missense	possibly damaging	0.86
R0313:Pcif1	UTSW	2	164,726,339 (GRCm39)	missense	probably damaging	0.97
R0329:Pcif1	UTSW	2	164,731,364 (GRCm39)	missense	probably damaging	1.00
R0330:Pcif1	UTSW	2	164,731,364 (GRCm39)	missense	probably damaging	1.00
R1070:Pcif1	UTSW	2	164,731,058 (GRCm39)	missense	probably benign	0.01
R1350:Pcif1	UTSW	2	164,728,687 (GRCm39)	missense	probably damaging	0.99
R1467:Pcif1	UTSW	2	164,731,058 (GRCm39)	missense	probably benign	0.01
R1467:Pcif1	UTSW	2	164,731,058 (GRCm39)	missense	probably benign	0.01
R1583:Pcif1	UTSW	2	164,728,647 (GRCm39)	missense	probably damaging	1.00
R1640:Pcif1	UTSW	2	164,727,603 (GRCm39)	missense	probably benign
R1852:Pcif1	UTSW	2	164,730,386 (GRCm39)	missense	probably damaging	0.97
R2252:Pcif1	UTSW	2	164,732,799 (GRCm39)	missense	probably benign	0.05
R2571:Pcif1	UTSW	2	164,726,131 (GRCm39)	missense	probably damaging	1.00
R3879:Pcif1	UTSW	2	164,727,878 (GRCm39)	missense	probably benign	0.40
R4956:Pcif1	UTSW	2	164,731,610 (GRCm39)	missense	probably damaging	1.00
R5913:Pcif1	UTSW	2	164,726,412 (GRCm39)	intron	probably benign
R6798:Pcif1	UTSW	2	164,727,711 (GRCm39)	missense	possibly damaging	0.94
R6913:Pcif1	UTSW	2	164,726,224 (GRCm39)	critical splice acceptor site	probably null
R7359:Pcif1	UTSW	2	164,726,251 (GRCm39)	missense	probably damaging	1.00
R7453:Pcif1	UTSW	2	164,731,550 (GRCm39)	missense	possibly damaging	0.94
R7453:Pcif1	UTSW	2	164,730,284 (GRCm39)	missense	probably damaging	1.00
R7917:Pcif1	UTSW	2	164,730,392 (GRCm39)	missense	probably benign	0.08
R8031:Pcif1	UTSW	2	164,728,442 (GRCm39)	missense	probably damaging	1.00
R8474:Pcif1	UTSW	2	164,730,272 (GRCm39)	missense	probably damaging	1.00
R8519:Pcif1	UTSW	2	164,726,303 (GRCm39)	missense	probably damaging	1.00
R8553:Pcif1	UTSW	2	164,728,417 (GRCm39)	missense	probably damaging	1.00
R8766:Pcif1	UTSW	2	164,727,346 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGTTACTAACAAGGCCTTTCAG -3'
(R):5'- GCCACATGTCCAAGGTAACC -3'

Sequencing Primer
(F):5'- CCTTTCAGAAGGTGAGGGAGTC -3'
(R):5'- GTAACCACTTACCAGCCAGG -3'

Posted On

2016-12-15