Mutagenetix > Incidental Mutation

Incidental Mutation 'R0022:Pmfbp1'

15221

Institutional Source

Beutler Lab

Gene Symbol

Pmfbp1

Ensembl Gene

ENSMUSG00000031727

Gene Name

polyamine modulated factor 1 binding protein 1

Synonyms

1700016D22Rik, F77

MMRRC Submission

038317-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0022 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

110220659-110269272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110252039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 395 (R395W)

Ref Sequence

ENSEMBL: ENSMUSP00000034162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034162]

AlphaFold

Q9WVQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034162
AA Change: R395W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: R395W

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC
internal_repeat_1	38	84	9.43e-6	PROSPERO
coiled coil region	89	121	N/A	INTRINSIC
internal_repeat_1	138	178	9.43e-6	PROSPERO
coiled coil region	197	223	N/A	INTRINSIC
coiled coil region	334	377	N/A	INTRINSIC
low complexity region	392	403	N/A	INTRINSIC
coiled coil region	411	732	N/A	INTRINSIC
coiled coil region	758	879	N/A	INTRINSIC
coiled coil region	931	968	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212003

Meta Mutation Damage Score

0.2021

Coding Region Coverage

1x: 82.0%
3x: 74.9%
10x: 56.1%
20x: 37.0%

Validation Efficiency

97% (90/93)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aste1	T	A	9: 105,273,823 (GRCm39)	L21*	probably null	Het
Btbd10	G	A	7: 112,924,988 (GRCm39)	Q287*	probably null	Het
Cd244a	A	G	1: 171,401,330 (GRCm39)	D48G	probably benign	Het
Cdc20	T	A	4: 118,292,686 (GRCm39)	H354L	probably damaging	Het
Cdhr3	G	A	12: 33,132,263 (GRCm39)	T120I	probably damaging	Het
Chd8	A	T	14: 52,470,312 (GRCm39)	S433T	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col9a3	A	G	2: 180,261,549 (GRCm39)	D613G	probably damaging	Het
Coro7	C	T	16: 4,451,168 (GRCm39)	R507H	probably benign	Het
Cracdl	C	T	1: 37,667,326 (GRCm39)	R240Q	probably damaging	Het
Csf1	A	T	3: 107,661,178 (GRCm39)	V113E	probably damaging	Het
Dclre1b	G	T	3: 103,710,464 (GRCm39)	H482Q	probably benign	Het
Ephb6	T	C	6: 41,591,503 (GRCm39)	V220A	probably damaging	Het
Ggct	C	A	6: 54,962,887 (GRCm39)	E175*	probably null	Het
Gm5316	T	C	6: 122,877,354 (GRCm39)		noncoding transcript	Het
Gzmn	A	G	14: 56,404,382 (GRCm39)	S152P	probably damaging	Het
Hoxa7	T	C	6: 52,194,363 (GRCm39)	N8S	probably damaging	Het
Il12rb2	A	G	6: 67,275,903 (GRCm39)	F630S	probably damaging	Het
Kit	A	G	5: 75,783,657 (GRCm39)	N378S	probably benign	Het
Lrp1b	A	T	2: 40,888,050 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,671,355 (GRCm39)	V1194D	probably damaging	Het
Mc5r	T	G	18: 68,471,853 (GRCm39)	S71A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Naa25	C	A	5: 121,556,039 (GRCm39)	L276M	probably damaging	Het
Nlrp1b	T	G	11: 71,052,755 (GRCm39)	K888T	possibly damaging	Het
Pabpc6	A	T	17: 9,888,145 (GRCm39)	N135K	probably benign	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pkd1	T	C	17: 24,813,793 (GRCm39)	W4086R	probably damaging	Het
Ppp1ca	T	G	19: 4,244,580 (GRCm39)	V213G	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef2	G	A	3: 78,995,207 (GRCm39)	R814C	probably damaging	Het
Rnasel	A	T	1: 153,636,521 (GRCm39)	I634F	probably damaging	Het
Rnf157	A	T	11: 116,240,276 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,471,011 (GRCm39)	S4567P	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Smcr8	T	A	11: 60,671,185 (GRCm39)	W778R	probably damaging	Het
Stat1	T	A	1: 52,179,789 (GRCm39)	L333Q	probably damaging	Het
Taar1	G	T	10: 23,796,625 (GRCm39)	A108S	probably benign	Het
Tro	C	G	X: 149,430,508 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,791,654 (GRCm39)		probably benign	Het

Other mutations in Pmfbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Pmfbp1	APN	8	110,264,625 (GRCm39)	missense	possibly damaging	0.75
IGL01505:Pmfbp1	APN	8	110,240,543 (GRCm39)	missense	probably damaging	1.00
IGL01609:Pmfbp1	APN	8	110,254,348 (GRCm39)	missense	probably benign	0.12
IGL02066:Pmfbp1	APN	8	110,268,365 (GRCm39)	missense	possibly damaging	0.76
IGL02926:Pmfbp1	APN	8	110,246,881 (GRCm39)	missense	probably damaging	1.00
IGL03374:Pmfbp1	APN	8	110,269,046 (GRCm39)	utr 3 prime	probably benign
R0022:Pmfbp1	UTSW	8	110,252,039 (GRCm39)	missense	probably damaging	1.00
R0046:Pmfbp1	UTSW	8	110,262,617 (GRCm39)	splice site	probably benign
R0068:Pmfbp1	UTSW	8	110,269,011 (GRCm39)	splice site	probably benign
R0211:Pmfbp1	UTSW	8	110,268,372 (GRCm39)	missense	probably benign	0.03
R0244:Pmfbp1	UTSW	8	110,268,305 (GRCm39)	missense	probably damaging	1.00
R0468:Pmfbp1	UTSW	8	110,240,600 (GRCm39)	splice site	probably null
R0479:Pmfbp1	UTSW	8	110,257,105 (GRCm39)	splice site	probably benign
R1124:Pmfbp1	UTSW	8	110,257,115 (GRCm39)	critical splice acceptor site	probably null
R1332:Pmfbp1	UTSW	8	110,256,898 (GRCm39)	missense	probably damaging	1.00
R1336:Pmfbp1	UTSW	8	110,256,898 (GRCm39)	missense	probably damaging	1.00
R1621:Pmfbp1	UTSW	8	110,226,170 (GRCm39)	missense	probably benign	0.04
R1961:Pmfbp1	UTSW	8	110,256,776 (GRCm39)	splice site	probably benign
R2069:Pmfbp1	UTSW	8	110,258,735 (GRCm39)	missense	possibly damaging	0.68
R2125:Pmfbp1	UTSW	8	110,246,905 (GRCm39)	missense	probably damaging	1.00
R2889:Pmfbp1	UTSW	8	110,252,063 (GRCm39)	missense	probably damaging	0.99
R3034:Pmfbp1	UTSW	8	110,247,553 (GRCm39)	critical splice acceptor site	probably null
R3956:Pmfbp1	UTSW	8	110,256,801 (GRCm39)	missense	probably benign	0.25
R4085:Pmfbp1	UTSW	8	110,221,579 (GRCm39)	missense	possibly damaging	0.92
R4191:Pmfbp1	UTSW	8	110,254,260 (GRCm39)	missense	probably benign	0.00
R4410:Pmfbp1	UTSW	8	110,258,695 (GRCm39)	missense	probably benign	0.07
R4418:Pmfbp1	UTSW	8	110,257,265 (GRCm39)	missense	probably benign	0.36
R4888:Pmfbp1	UTSW	8	110,258,792 (GRCm39)	missense	probably damaging	1.00
R4937:Pmfbp1	UTSW	8	110,262,498 (GRCm39)	missense	probably benign
R5070:Pmfbp1	UTSW	8	110,256,787 (GRCm39)	missense	probably damaging	0.99
R5184:Pmfbp1	UTSW	8	110,254,399 (GRCm39)	missense	possibly damaging	0.92
R5552:Pmfbp1	UTSW	8	110,258,383 (GRCm39)	missense	probably damaging	0.98
R5609:Pmfbp1	UTSW	8	110,251,739 (GRCm39)	missense	probably damaging	1.00
R5760:Pmfbp1	UTSW	8	110,247,655 (GRCm39)	missense	probably damaging	0.99
R5818:Pmfbp1	UTSW	8	110,265,311 (GRCm39)	splice site	probably null
R6378:Pmfbp1	UTSW	8	110,256,898 (GRCm39)	missense	probably damaging	0.99
R6496:Pmfbp1	UTSW	8	110,258,789 (GRCm39)	missense	probably null	0.04
R6550:Pmfbp1	UTSW	8	110,246,839 (GRCm39)	missense	possibly damaging	0.90
R6565:Pmfbp1	UTSW	8	110,252,060 (GRCm39)	nonsense	probably null
R6624:Pmfbp1	UTSW	8	110,256,822 (GRCm39)	missense	possibly damaging	0.92
R6684:Pmfbp1	UTSW	8	110,262,462 (GRCm39)	missense	probably benign	0.10
R6823:Pmfbp1	UTSW	8	110,256,939 (GRCm39)	missense	possibly damaging	0.92
R6833:Pmfbp1	UTSW	8	110,265,307 (GRCm39)	critical splice donor site	probably null
R6940:Pmfbp1	UTSW	8	110,251,823 (GRCm39)	missense	probably damaging	0.98
R7000:Pmfbp1	UTSW	8	110,257,221 (GRCm39)	missense	possibly damaging	0.92
R7411:Pmfbp1	UTSW	8	110,240,503 (GRCm39)	missense	probably damaging	1.00
R7563:Pmfbp1	UTSW	8	110,252,006 (GRCm39)	missense	possibly damaging	0.83
R7782:Pmfbp1	UTSW	8	110,254,412 (GRCm39)	missense	probably damaging	0.96
R8115:Pmfbp1	UTSW	8	110,263,669 (GRCm39)	missense	probably damaging	1.00
R8712:Pmfbp1	UTSW	8	110,265,309 (GRCm39)	splice site	probably benign
R8954:Pmfbp1	UTSW	8	110,258,433 (GRCm39)	missense	probably benign	0.00
R9054:Pmfbp1	UTSW	8	110,247,661 (GRCm39)	missense	possibly damaging	0.84
R9067:Pmfbp1	UTSW	8	110,263,244 (GRCm39)	missense	possibly damaging	0.87
R9211:Pmfbp1	UTSW	8	110,262,445 (GRCm39)	missense	probably benign	0.04
R9237:Pmfbp1	UTSW	8	110,246,932 (GRCm39)	missense	probably damaging	1.00
R9275:Pmfbp1	UTSW	8	110,262,471 (GRCm39)	missense	probably benign	0.03
R9293:Pmfbp1	UTSW	8	110,263,205 (GRCm39)	missense	probably benign	0.38
R9302:Pmfbp1	UTSW	8	110,268,474 (GRCm39)	missense	probably damaging	1.00
R9539:Pmfbp1	UTSW	8	110,240,537 (GRCm39)	missense	probably damaging	1.00
X0065:Pmfbp1	UTSW	8	110,262,499 (GRCm39)	missense	probably benign	0.25
Z1088:Pmfbp1	UTSW	8	110,240,576 (GRCm39)	missense	probably damaging	1.00
Z1176:Pmfbp1	UTSW	8	110,258,383 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-12-12