Mutagenetix > Incidental Mutation

Incidental Mutation 'R7782:Pmfbp1'

599310

Institutional Source

Beutler Lab

Gene Symbol

Pmfbp1

Ensembl Gene

ENSMUSG00000031727

Gene Name

polyamine modulated factor 1 binding protein 1

Synonyms

1700016D22Rik, F77

MMRRC Submission

045838-MU

Accession Numbers

Essential gene?

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

Stock #

R7782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110220659-110269272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110254412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 482 (K482N)

Ref Sequence

ENSEMBL: ENSMUSP00000034162 (fasta)

Gene Model

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

AlphaFold

Q9WVQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034162
AA Change: K482N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: K482N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTATGTGTGT	GTGTGTGT	11: 43,478,239 (GRCm39)		probably null	Het
Adamts16	A	G	13: 70,984,265 (GRCm39)	S133P	probably damaging	Het
Adamts17	T	C	7: 66,774,802 (GRCm39)	W1001R	probably damaging	Het
Aox4	T	A	1: 58,270,251 (GRCm39)		probably null	Het
B4galnt4	C	T	7: 140,644,988 (GRCm39)	P221S	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
BC034090	T	C	1: 155,108,410 (GRCm39)		probably benign	Het
Best2	T	A	8: 85,736,143 (GRCm39)	D312V	probably damaging	Het
Bod1l	A	T	5: 41,975,286 (GRCm39)	D2009E	probably benign	Het
Ccdc158	A	C	5: 92,793,373 (GRCm39)	S672A	probably benign	Het
Ccdc43	A	T	11: 102,588,443 (GRCm39)	L31Q	probably damaging	Het
Cdcp3	G	A	7: 130,904,466 (GRCm39)		probably null	Het
Chaf1a	T	G	17: 56,369,291 (GRCm39)	H507Q	probably benign	Het
Clptm1l	A	G	13: 73,752,439 (GRCm39)	Y28C	probably damaging	Het
Cp	G	A	3: 20,029,223 (GRCm39)		probably null	Het
Crocc	C	T	4: 140,752,597 (GRCm39)	A1432T	probably benign	Het
Crybg2	A	G	4: 133,801,137 (GRCm39)	T457A	probably benign	Het
Csnk2a1-ps3	C	T	1: 156,352,552 (GRCm39)	T251I	probably damaging	Het
Dennd4a	A	G	9: 64,814,202 (GRCm39)	D1473G	probably damaging	Het
Diaph3	A	G	14: 87,274,940 (GRCm39)	F172S	probably benign	Het
Dnajc5b	A	G	3: 19,629,006 (GRCm39)	N100S	probably benign	Het
Dusp13b	G	A	14: 21,791,404 (GRCm39)	T16I	possibly damaging	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Fat1	A	G	8: 45,403,948 (GRCm39)	Y233C	probably damaging	Het
Fcgbp	T	A	7: 27,784,460 (GRCm39)	Y173*	probably null	Het
Fign	T	A	2: 63,809,506 (GRCm39)	D588V	probably damaging	Het
Fignl2	C	T	15: 100,951,188 (GRCm39)	V365M	unknown	Het
Fnip2	A	C	3: 79,415,430 (GRCm39)	Y203D	probably benign	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,143,377 (GRCm39)		probably benign	Het
Gfral	C	A	9: 76,100,572 (GRCm39)	V289L	probably benign	Het
H2bc21	T	A	3: 96,128,487 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,103,370 (GRCm39)	T1161K	probably damaging	Het
Hectd4	A	T	5: 121,443,784 (GRCm39)	I1335F	possibly damaging	Het
Htt	T	A	5: 35,040,336 (GRCm39)	V2166D	probably benign	Het
Ipo5	G	C	14: 121,170,537 (GRCm39)	K436N	possibly damaging	Het
Iqca1l	A	G	5: 24,749,224 (GRCm39)	L758P	probably damaging	Het
Itga6	A	G	2: 71,671,879 (GRCm39)	E794G	probably damaging	Het
Itga9	G	A	9: 118,672,712 (GRCm39)	C148Y		Het
Kcnip2	A	C	19: 45,785,524 (GRCm39)		probably null	Het
Kcnk6	T	C	7: 28,925,269 (GRCm39)	T116A	possibly damaging	Het
Kctd21	A	G	7: 96,997,297 (GRCm39)	I257V	probably benign	Het
Kif19a	G	A	11: 114,672,748 (GRCm39)	R299Q	probably damaging	Het
Kifc2	G	A	15: 76,548,328 (GRCm39)	G391R	probably benign	Het
Klrg2	A	G	6: 38,604,562 (GRCm39)	V381A	possibly damaging	Het
Mob1b	A	G	5: 88,897,542 (GRCm39)		probably null	Het
Or13p8	T	C	4: 118,584,106 (GRCm39)	Y221H	probably damaging	Het
Or6c69	T	G	10: 129,747,392 (GRCm39)	S252R	probably damaging	Het
Or6c75	T	C	10: 129,337,020 (GRCm39)	V81A	probably benign	Het
Or7c70	T	C	10: 78,683,447 (GRCm39)	I101V	probably benign	Het
Oxsm	C	A	14: 16,240,925 (GRCm38)	A375S	possibly damaging	Het
Pcdha3	T	C	18: 37,081,193 (GRCm39)	V645A	probably damaging	Het
Pcdhb15	T	A	18: 37,607,788 (GRCm39)	V340E	possibly damaging	Het
Pced1a	G	A	2: 130,264,435 (GRCm39)	P132S	probably damaging	Het
Pla2r1	C	T	2: 60,334,531 (GRCm39)	V414M	probably benign	Het
Plekhg4	A	C	8: 106,104,399 (GRCm39)	I493L	probably benign	Het
Plekhj1	T	A	10: 80,634,179 (GRCm39)		probably benign	Het
Ppil3	T	C	1: 58,473,574 (GRCm39)	N92S	probably benign	Het
Ppt2	A	G	17: 34,844,686 (GRCm39)	S156P	probably benign	Het
Prss41	A	T	17: 24,056,087 (GRCm39)	D255E	probably benign	Het
Psg25	T	A	7: 18,255,227 (GRCm39)	M430L	probably benign	Het
Rffl	A	T	11: 82,703,595 (GRCm39)	C109*	probably null	Het
Rock2	A	G	12: 17,021,111 (GRCm39)	E991G	probably benign	Het
Rpap2	A	G	5: 107,768,058 (GRCm39)	I299V	probably benign	Het
Rras	T	C	7: 44,670,529 (GRCm39)	S158P	probably benign	Het
Serpinb10	G	A	1: 107,463,196 (GRCm39)		probably benign	Het
Smyd3	A	T	1: 178,799,859 (GRCm39)	I360N	possibly damaging	Het
Synm	A	G	7: 67,384,714 (GRCm39)	S541P	probably damaging	Het
Tasor	A	G	14: 27,193,901 (GRCm39)	T1034A	probably benign	Het
Tbc1d31	C	A	15: 57,821,764 (GRCm39)	T813K	possibly damaging	Het
Trav7n-4	A	G	14: 53,329,103 (GRCm39)	M38V	probably benign	Het
Tulp3	A	C	6: 128,301,943 (GRCm39)	N359K	possibly damaging	Het
Twf1	T	C	15: 94,480,654 (GRCm39)	K196E	probably benign	Het
Usp24	A	T	4: 106,173,771 (GRCm39)	N35Y	probably damaging	Het
Usp46	T	A	5: 74,162,772 (GRCm39)	E342D	probably benign	Het
Vps50	T	A	6: 3,532,202 (GRCm39)		probably null	Het
Vps8	T	A	16: 21,330,308 (GRCm39)	I727N	possibly damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zfp11	A	T	5: 129,734,027 (GRCm39)	V478E	possibly damaging	Het
Zfp493	A	G	13: 67,935,123 (GRCm39)	K359E	probably benign	Het
Zfp536	T	C	7: 37,268,126 (GRCm39)	Y430C	probably damaging	Het
Zfpm1	A	G	8: 123,063,689 (GRCm39)	D916G	unknown	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
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
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'- CTCCTCAGTTGCTCCAAGAC -3'
(R):5'- TCATCTAAGGTGGCTGAGGG -3'

Sequencing Primer
(F):5'- CTCAGTTGCTCCAAGACAAGGATG -3'
(R):5'- CATCTAAGGTGGCTGAGGGAATGG -3'

Posted On

2019-11-26