Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01021:Pmfbp1'

53739

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pmfbp1

Ensembl Gene

ENSMUSG00000031727

Gene Name

polyamine modulated factor 1 binding protein 1

Synonyms

1700016D22Rik, F77

Accession Numbers

Essential gene?

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

Stock #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

110220659-110269272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110264625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 897 (R897L)

Ref Sequence

ENSEMBL: ENSMUSP00000034162 (fasta)

Gene Model

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

AlphaFold

Q9WVQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034162
AA Change: R897L

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034162
Gene: ENSMUSG00000031727
AA Change: R897L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,848 (GRCm39)	V80A	unknown	Het
Adam28	A	G	14: 68,879,563 (GRCm39)	S162P	probably benign	Het
Adamts14	G	T	10: 61,061,152 (GRCm39)	S426Y	probably damaging	Het
Ankrd24	A	G	10: 81,470,995 (GRCm39)		probably null	Het
B3galt5	C	A	16: 96,116,923 (GRCm39)	H185Q	probably benign	Het
Bod1l	A	G	5: 41,995,516 (GRCm39)		probably benign	Het
Ddx46	T	A	13: 55,814,145 (GRCm39)	Y700*	probably null	Het
Dph7	T	G	2: 24,861,935 (GRCm39)		probably null	Het
Eif1ad9	G	A	12: 88,296,042 (GRCm39)	G7R	unknown	Het
Fcho1	A	T	8: 72,166,167 (GRCm39)	Y354*	probably null	Het
Fnbp4	A	G	2: 90,608,013 (GRCm39)	M912V	probably benign	Het
Fpgt	T	A	3: 154,797,129 (GRCm39)	E42V	possibly damaging	Het
Frmd3	A	G	4: 73,992,357 (GRCm39)	I75V	possibly damaging	Het
Gm3278	G	T	14: 16,082,261 (GRCm39)	V159L	possibly damaging	Het
Gmds	T	C	13: 32,311,013 (GRCm39)	I205V	possibly damaging	Het
Gprin1	T	A	13: 54,888,182 (GRCm39)	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,281,865 (GRCm39)	E102G	probably damaging	Het
Itga1	T	A	13: 115,133,536 (GRCm39)	Y458F	probably benign	Het
Kif20b	T	C	19: 34,915,660 (GRCm39)	V479A	possibly damaging	Het
Megf8	T	A	7: 25,037,799 (GRCm39)	W772R	probably benign	Het
Muc6	T	A	7: 141,217,075 (GRCm39)	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,050,343 (GRCm39)	S258P	probably damaging	Het
Padi3	T	C	4: 140,523,645 (GRCm39)		probably benign	Het
Rims1	A	T	1: 22,525,701 (GRCm39)	W407R	probably damaging	Het
Scnn1b	G	T	7: 121,517,259 (GRCm39)	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,824,369 (GRCm39)	A89T	probably benign	Het
Tbk1	T	C	10: 121,387,177 (GRCm39)	E706G	probably benign	Het
Thra	A	G	11: 98,653,754 (GRCm39)	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,973,347 (GRCm39)	Y33*	probably null	Het
Usp6nl	T	A	2: 6,429,198 (GRCm39)	M220K	probably damaging	Het
Vmn2r112	C	T	17: 22,837,885 (GRCm39)	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,343,771 (GRCm39)	T485A	probably benign	Het
Zfat	T	C	15: 68,042,015 (GRCm39)	I840V	possibly damaging	Het

Other mutations in Pmfbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-28