Mutagenetix > Incidental Mutation

Incidental Mutation 'R6378:Pmfbp1'

515128

Institutional Source

Beutler Lab

Gene Symbol

Pmfbp1

Ensembl Gene

ENSMUSG00000031727

Gene Name

polyamine modulated factor 1 binding protein 1

Synonyms

1700016D22Rik, F77

MMRRC Submission

044528-MU

Accession Numbers

Essential gene?

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

Stock #

R6378 (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 110256898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 534 (I534T)

Ref Sequence

ENSEMBL: ENSMUSP00000034162 (fasta)

Gene Model

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

AlphaFold

Q9WVQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034162
AA Change: I534T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: I534T

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 72,995,774 (GRCm39)	D408E	probably benign	Het
Agpat2	T	C	2: 26,486,147 (GRCm39)	N178S	probably benign	Het
Arsi	T	C	18: 61,049,573 (GRCm39)	F152S	probably damaging	Het
Atp13a2	T	A	4: 140,734,367 (GRCm39)	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,733,072 (GRCm39)	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 57,095,579 (GRCm39)	L2P	probably damaging	Het
Cby3	A	G	11: 50,250,360 (GRCm39)	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,561 (GRCm39)	D567V	possibly damaging	Het
Cdh5	T	A	8: 104,853,168 (GRCm39)		probably null	Het
Cela1	C	T	15: 100,585,071 (GRCm39)	V20I	probably benign	Het
Cmpk2	G	A	12: 26,519,415 (GRCm39)	G22E	possibly damaging	Het
Ctcf	T	A	8: 106,390,423 (GRCm39)	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,339,468 (GRCm39)	C353F	probably damaging	Het
Efcab3	A	G	11: 104,999,620 (GRCm39)	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,830,420 (GRCm39)	Y10*	probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eml4	T	A	17: 83,755,646 (GRCm39)	W336R	probably damaging	Het
Erich6	T	C	3: 58,529,780 (GRCm39)		probably null	Het
Eya1	T	C	1: 14,373,027 (GRCm39)	N31D	possibly damaging	Het
Fam81a	T	A	9: 70,017,628 (GRCm39)	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,694,639 (GRCm39)	T487A	possibly damaging	Het
Ganc	T	C	2: 120,264,307 (GRCm39)	M420T	probably damaging	Het
Gimap7	A	T	6: 48,701,116 (GRCm39)	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,570,146 (GRCm39)	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,229,377 (GRCm39)	S98G	probably benign	Het
Hoxd10	T	C	2: 74,524,678 (GRCm39)	I330T	possibly damaging	Het
Ik	T	A	18: 36,890,341 (GRCm39)	I539N	probably damaging	Het
Il17rb	G	A	14: 29,722,320 (GRCm39)	T237I	probably damaging	Het
Ing2	T	A	8: 48,122,293 (GRCm39)	Q85L	probably benign	Het
Lrp4	C	A	2: 91,324,174 (GRCm39)	N1208K	probably benign	Het
Lvrn	T	A	18: 47,028,024 (GRCm39)	S888R	probably benign	Het
Map2	T	C	1: 66,454,488 (GRCm39)	V1126A	probably damaging	Het
Mapkapk5	A	G	5: 121,677,233 (GRCm39)		probably null	Het
Mis18bp1	T	C	12: 65,196,021 (GRCm39)	D581G	probably benign	Het
Muc4	T	C	16: 32,599,320 (GRCm39)	V3289A	probably benign	Het
Myom2	T	A	8: 15,149,356 (GRCm39)	I609N	probably benign	Het
Nav1	A	T	1: 135,382,433 (GRCm39)	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,486,207 (GRCm39)	I302V	probably damaging	Het
Neb	T	A	2: 52,183,733 (GRCm39)	K978N	probably damaging	Het
Nol8	A	G	13: 49,820,831 (GRCm39)	E878G	probably damaging	Het
Nrde2	A	T	12: 100,097,016 (GRCm39)	I928N	probably damaging	Het
Nxf1	T	A	19: 8,741,910 (GRCm39)	D145E	probably benign	Het
Obox3	T	A	7: 15,360,027 (GRCm39)	H214L	probably benign	Het
Obscn	T	C	11: 58,964,572 (GRCm39)	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,093,761 (GRCm39)	E83G	probably benign	Het
Or11a4	T	A	17: 37,536,688 (GRCm39)	V224E	probably benign	Het
Or2r3	T	G	6: 42,448,687 (GRCm39)	M142L	probably benign	Het
Or6b2	A	G	1: 92,408,178 (GRCm39)	L55P	probably damaging	Het
Or8s8	T	C	15: 98,354,425 (GRCm39)	V78A	probably benign	Het
Pcsk4	G	T	10: 80,164,809 (GRCm39)	H69N	probably benign	Het
Plcl2	C	T	17: 50,975,188 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,241 (GRCm39)	I276N	probably damaging	Het
Ramac	A	G	7: 81,417,387 (GRCm39)	Y29C	probably damaging	Het
Rhd	T	A	4: 134,621,696 (GRCm39)	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scg5	A	G	2: 113,657,737 (GRCm39)	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,315,102 (GRCm39)	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,610,245 (GRCm39)	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,894,613 (GRCm39)	L486*	probably null	Het
Slc25a47	G	A	12: 108,822,069 (GRCm39)	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,740,916 (GRCm39)	K277T	probably damaging	Het
Slc66a3	T	C	12: 17,047,644 (GRCm39)	Y96C	probably damaging	Het
Sorcs1	T	A	19: 50,213,615 (GRCm39)	E704V	possibly damaging	Het
Sptan1	T	C	2: 29,908,527 (GRCm39)	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,328,378 (GRCm39)		probably null	Het
Sytl2	A	T	7: 90,007,432 (GRCm39)	K65*	probably null	Het
Tas2r109	T	G	6: 132,957,844 (GRCm39)	I29L	probably benign	Het
Tfap2a	A	T	13: 40,876,717 (GRCm39)	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,325,679 (GRCm39)	L128F	probably benign	Het
Trappc12	A	T	12: 28,797,082 (GRCm39)	L150Q	probably damaging	Het
Trim43b	T	A	9: 88,967,452 (GRCm39)	I395L	probably benign	Het
U2surp	C	T	9: 95,373,474 (GRCm39)	E232K	probably benign	Het
Vax1	T	C	19: 59,154,656 (GRCm39)	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,210,587 (GRCm39)	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,547,782 (GRCm39)	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,498,667 (GRCm39)	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,182,517 (GRCm39)	G394D	probably damaging	Het
Ybx2	A	G	11: 69,831,179 (GRCm39)	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,308,410 (GRCm39)	N545K	probably benign	Het
Zp1	T	C	19: 10,892,217 (GRCm39)	T56A	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
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
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'- TGACCAAGCATTCGATGGC -3'
(R):5'- CTGTAACCGTTGCCTACAGC -3'

Sequencing Primer
(F):5'- AAGCATTCGATGGCGCTCC -3'
(R):5'- AGAACTTCAGAGCCTGTGGTGC -3'

Posted On

2018-05-04