Mutagenetix > Incidental Mutation

Incidental Mutation 'R6684:Pmfbp1'

527618

Institutional Source

Beutler Lab

Gene Symbol

Pmfbp1

Ensembl Gene

ENSMUSG00000031727

Gene Name

polyamine modulated factor 1 binding protein 1

Synonyms

1700016D22Rik, F77

MMRRC Submission

044803-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110220659-110269272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110262462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 719 (S719P)

Ref Sequence

ENSEMBL: ENSMUSP00000034162 (fasta)

Gene Model

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

AlphaFold

Q9WVQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000034162
AA Change: S719P

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: S719P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

94% (33/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	G	A	5: 24,774,137 (GRCm39)	R322W	probably damaging	Het
Capns1	C	A	7: 29,893,324 (GRCm39)	G63V	probably damaging	Het
Carmil1	G	A	13: 24,206,525 (GRCm39)	T5M	unknown	Het
Cr2	T	A	1: 194,853,329 (GRCm39)	K70*	probably null	Het
Dapk1	T	A	13: 60,908,708 (GRCm39)	I1107N	probably damaging	Het
Ehd4	A	G	2: 119,984,815 (GRCm39)	F48L	probably damaging	Het
Fam221a	G	T	6: 49,349,542 (GRCm39)	E36*	probably null	Het
Fam81b	G	A	13: 76,350,157 (GRCm39)	Q423*	probably null	Het
Galnt7	C	T	8: 57,991,143 (GRCm39)	V456I	probably benign	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Hrc	A	G	7: 44,985,956 (GRCm39)	H369R	possibly damaging	Het
Impg2	T	G	16: 56,080,292 (GRCm39)	S590A	probably benign	Het
Lcn3	A	T	2: 25,656,170 (GRCm39)	H75L	probably benign	Het
Lims1	T	A	10: 58,234,835 (GRCm39)		probably null	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,339,354 (GRCm39)		probably benign	Het
Or5p79	A	G	7: 108,221,141 (GRCm39)	T41A	probably damaging	Het
Orai3	A	G	7: 127,372,892 (GRCm39)	N131S	probably damaging	Het
Pcdhga7	T	C	18: 37,849,103 (GRCm39)	L370P	probably damaging	Het
Phtf2	A	G	5: 21,017,937 (GRCm39)		probably benign	Het
Plcg2	T	C	8: 118,323,071 (GRCm39)	Y709H	probably damaging	Het
Polr3g	A	T	13: 81,847,650 (GRCm39)		probably null	Het
Ppp4r1	G	A	17: 66,131,337 (GRCm39)	A360T	probably benign	Het
Pramel6	T	C	2: 87,339,748 (GRCm39)	W171R	probably damaging	Het
Rad54b	T	C	4: 11,583,689 (GRCm39)		probably benign	Het
Rasl10a	G	A	11: 5,008,396 (GRCm39)	E31K	possibly damaging	Het
Ryr3	T	C	2: 112,583,433 (GRCm39)	R2813G	probably damaging	Het
Tmem71	A	G	15: 66,413,539 (GRCm39)	S178P	possibly damaging	Het
Trim58	A	G	11: 58,542,446 (GRCm39)	T469A	probably benign	Het
Vash1	A	G	12: 86,735,683 (GRCm39)	T190A	probably damaging	Het
Ythdc2	T	C	18: 45,006,136 (GRCm39)	S1210P	possibly damaging	Het
Zfp42	G	A	8: 43,749,093 (GRCm39)	T136M	possibly damaging	Het
Zfp595	T	C	13: 67,468,341 (GRCm39)	Y72C	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGGGCTCTGCTCTTCCTATC -3'
(R):5'- TGACTCCTGTCCACTCGTAG -3'

Sequencing Primer
(F):5'- TTCCTATCAGGGAGGCGGAG -3'
(R):5'- ACTACTTCTTTGGCAGAGAGTG -3'

Posted On

2018-07-23