Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Pcif1'

177236

Institutional Source

Beutler Lab

Gene Symbol

Pcif1

Ensembl Gene

ENSMUSG00000039849

Gene Name

phosphorylated CTD interacting factor 1

Synonyms

F730014I05Rik, 2310022K11Rik

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

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

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164721288-164733360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 164728647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 274 (L274F)

Ref Sequence

ENSEMBL: ENSMUSP00000039555 (fasta)

Gene Model

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

AlphaFold

P59114

Predicted Effect

probably damaging
Transcript: ENSMUST00000041643
AA Change: L274F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849
AA Change: L274F

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

0.1372

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,030,528 (GRCm39)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,265,912 (GRCm39)		probably null	Het
Ankar	A	G	1: 72,718,714 (GRCm39)		probably benign	Het
Aplf	A	T	6: 87,623,015 (GRCm39)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,366,350 (GRCm39)		probably benign	Het
Catsperb	T	C	12: 101,429,373 (GRCm39)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 114,904,603 (GRCm39)	D88G	probably benign	Het
Cebpz	T	C	17: 79,242,181 (GRCm39)	N491S	probably damaging	Het
Crybg2	T	C	4: 133,808,770 (GRCm39)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,779,131 (GRCm39)	V331A	probably benign	Het
Decr2	T	C	17: 26,301,998 (GRCm39)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,713,943 (GRCm39)	M136T	probably damaging	Het
Eapp	G	A	12: 54,732,733 (GRCm39)	Q126*	probably null	Het
Fam111a	T	A	19: 12,565,142 (GRCm39)	V297D	probably damaging	Het
Fbxo10	A	C	4: 45,062,118 (GRCm39)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,167,118 (GRCm39)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,467,806 (GRCm39)		probably null	Het
Gm10392	T	A	11: 77,408,307 (GRCm39)	D104V	probably benign	Het
Gpn1	A	G	5: 31,654,682 (GRCm39)	E78G	possibly damaging	Het
Hhip	T	C	8: 80,716,905 (GRCm39)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,247,576 (GRCm39)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,750,548 (GRCm39)		probably benign	Het
Klhl21	T	C	4: 152,094,081 (GRCm39)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,119,224 (GRCm39)		probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lratd1	G	A	12: 14,200,409 (GRCm39)	A106V	probably benign	Het
Magi2	T	C	5: 19,432,330 (GRCm39)	V15A	probably benign	Het
Map2k7	T	C	8: 4,293,621 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,441 (GRCm39)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,588,286 (GRCm39)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,695,956 (GRCm39)	D230E	probably benign	Het
Nacad	T	A	11: 6,551,185 (GRCm39)	T669S	probably benign	Het
Nin	C	T	12: 70,078,512 (GRCm39)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,116,164 (GRCm39)	A203T	probably damaging	Het
Or10aa1	T	C	1: 173,870,046 (GRCm39)	F177L	probably benign	Het
Or10q12	A	T	19: 13,745,874 (GRCm39)	H56L	probably benign	Het
Or4c106	T	G	2: 88,682,606 (GRCm39)	F104C	probably damaging	Het
Or4k5	C	A	14: 50,386,231 (GRCm39)	M33I	probably benign	Het
Or4k51	A	T	2: 111,584,770 (GRCm39)	M59L	probably damaging	Het
Or5ac19	A	G	16: 59,089,394 (GRCm39)	V212A	probably benign	Het
Osbp	C	A	19: 11,955,193 (GRCm39)	Q282K	probably benign	Het
Osbpl2	A	G	2: 179,790,256 (GRCm39)	S177G	probably damaging	Het
Pax1	A	G	2: 147,208,175 (GRCm39)	H261R	possibly damaging	Het
Pkhd1	A	G	1: 20,188,049 (GRCm39)	S3420P	probably benign	Het
Prss3	A	C	6: 41,354,561 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,400,563 (GRCm39)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,623,239 (GRCm39)	V126A	probably damaging	Het
Rai14	A	C	15: 10,588,002 (GRCm39)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,676,481 (GRCm39)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,374,153 (GRCm39)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,227,092 (GRCm39)		noncoding transcript	Het
Scrn1	A	T	6: 54,497,754 (GRCm39)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 126,148,634 (GRCm39)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,640,122 (GRCm39)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,042,685 (GRCm39)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,957,389 (GRCm39)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,677,193 (GRCm39)	R260*	probably null	Het
Tenm3	T	C	8: 48,732,109 (GRCm39)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,878,357 (GRCm39)	G116A	probably damaging	Het
Tial1	A	G	7: 128,045,634 (GRCm39)	Y317H	probably damaging	Het
Top6bl	T	A	19: 4,702,199 (GRCm39)	K282N	probably damaging	Het
Trim66	A	T	7: 109,054,287 (GRCm39)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,674,371 (GRCm39)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,490,140 (GRCm39)	S31T	possibly damaging	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
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
R5792:Pcif1	UTSW	2	164,727,299 (GRCm39)	missense	probably damaging	0.97
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'- CGGGAATCTTTCAACCGCTGGATG -3'
(R):5'- GCGTGAGCATTAGCCAGATGACAG -3'

Sequencing Primer
(F):5'- AACCGCTGGATGCTGGAG -3'
(R):5'- GCCAAACCTGGACTCAATGA -3'

Posted On

2014-04-24