Mutagenetix > Incidental Mutation

Incidental Mutation 'R5609:Pmfbp1'

437973

Institutional Source

Beutler Lab

Gene Symbol

Pmfbp1

Ensembl Gene

ENSMUSG00000031727

Gene Name

polyamine modulated factor 1 binding protein 1

Synonyms

1700016D22Rik, F77

MMRRC Submission

043158-MU

Accession Numbers

Essential gene?

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

Stock #

R5609 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

110220659-110269272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110251739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 327 (E327D)

Ref Sequence

ENSEMBL: ENSMUSP00000034162 (fasta)

Gene Model

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

AlphaFold

Q9WVQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034162
AA Change: E327D

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

SMART Domains

Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: E327D

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: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,353,874 (GRCm39)	I3732T	probably benign	Het
Ago1	C	A	4: 126,354,830 (GRCm39)	K127N	possibly damaging	Het
Akap8l	T	C	17: 32,557,374 (GRCm39)	N79S	probably damaging	Het
Ano5	T	C	7: 51,243,385 (GRCm39)	L836P	probably damaging	Het
AY358078	A	G	14: 52,042,065 (GRCm39)	T147A	unknown	Het
Cabp4	T	C	19: 4,189,251 (GRCm39)	D102G	probably benign	Het
Cdc34	C	T	10: 79,520,655 (GRCm39)	R61C	probably damaging	Het
Chac1	A	G	2: 119,181,887 (GRCm39)	K2E	unknown	Het
Cltc	C	T	11: 86,621,093 (GRCm39)	V305I	probably damaging	Het
Cog7	T	C	7: 121,524,683 (GRCm39)	T704A	probably benign	Het
Cux1	A	G	5: 136,421,174 (GRCm39)	V184A	probably damaging	Het
Daglb	A	T	5: 143,464,274 (GRCm39)	T262S	probably benign	Het
Dglucy	A	G	12: 100,753,905 (GRCm39)	I12V	probably null	Het
Dnah7a	A	G	1: 53,621,753 (GRCm39)	V1124A	probably benign	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Eif3k	C	A	7: 28,681,133 (GRCm39)	A9S	probably benign	Het
Elapor1	T	A	3: 108,378,731 (GRCm39)	I408F	probably damaging	Het
Gli3	A	T	13: 15,723,038 (GRCm39)	M60L	possibly damaging	Het
Hk1	C	T	10: 62,178,330 (GRCm39)	E4K	probably benign	Het
Kmt2b	C	A	7: 30,276,570 (GRCm39)	V1701L	probably damaging	Het
Lrp1b	T	C	2: 41,231,807 (GRCm39)	H1107R	probably damaging	Het
Lypd10	A	T	7: 24,413,711 (GRCm39)	R242S	possibly damaging	Het
Ncor1	A	G	11: 62,249,679 (GRCm39)		probably null	Het
Or5h23	T	A	16: 58,906,439 (GRCm39)	M136L	possibly damaging	Het
Or6c70	T	G	10: 129,710,607 (GRCm39)	R6S	probably benign	Het
Plekhg4	G	A	8: 106,106,134 (GRCm39)		probably null	Het
Slc22a17	G	A	14: 55,146,427 (GRCm39)	P63L	probably damaging	Het
Slc37a1	G	A	17: 31,556,982 (GRCm39)	V383M	possibly damaging	Het
Slc9a9	T	A	9: 94,691,990 (GRCm39)	Y182N	probably damaging	Het
Slx4ip	A	G	2: 136,842,162 (GRCm39)	D29G	probably damaging	Het
St3gal5	T	C	6: 72,130,446 (GRCm39)	V319A	possibly damaging	Het
Tbc1d10c	C	T	19: 4,239,881 (GRCm39)	M76I	possibly damaging	Het
Thrb	C	A	14: 18,033,526 (GRCm38)	H416N	probably benign	Het
Timp2	T	A	11: 118,210,987 (GRCm39)	D60V	probably damaging	Het
Ubxn6	C	T	17: 56,376,745 (GRCm39)	E216K	probably benign	Het
Unc79	T	C	12: 103,094,527 (GRCm39)	M1977T	probably benign	Het
Uri1	G	A	7: 37,662,954 (GRCm39)	R347*	probably null	Het
Vmn1r73	G	A	7: 11,490,591 (GRCm39)	W136*	probably null	Het
Vmn2r124	T	C	17: 18,294,102 (GRCm39)	Y730H	probably benign	Het
Wnk4	C	T	11: 101,166,462 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,468,679 (GRCm39)	N2971D	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGCTCACGTGTACACACT -3'
(R):5'- CTGTCTCAGAGGCCTCAGAG -3'

Sequencing Primer
(F):5'- TTGCCTGCACACACATGC -3'
(R):5'- CCTCAGAGGCTGGGCGC -3'

Posted On

2016-10-26