Mutagenetix > Incidental Mutations

Incidental Mutation 'R3901:Pogk'

308964

Institutional Source

Beutler Lab

Gene Symbol

Pogk

Ensembl Gene

ENSMUSG00000040596

Gene Name

pogo transposable element with KRAB domain

Synonyms

BASS2, 9130401E23Rik

MMRRC Submission

040810-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R3901 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

166384622-166409863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 166403624 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 45 (V45I)

Ref Sequence

ENSEMBL: ENSMUSP00000120963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127596] [ENSMUST00000128861] [ENSMUST00000131487] [ENSMUST00000135673] [ENSMUST00000148243] [ENSMUST00000169324]

Predicted Effect

probably damaging
Transcript: ENSMUST00000127596
AA Change: V45I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120963
Gene: ENSMUSG00000040596
AA Change: V45I

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
KRAB	47	105	6.31e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128861
AA Change: V52I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118270
Gene: ENSMUSG00000040596
AA Change: V52I

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
KRAB	47	107	1.53e-19	SMART
Pfam:BrkDBD	195	247	2.1e-29	PFAM
CENPB	256	323	3.93e-21	SMART
Pfam:DDE_1	355	567	1.4e-55	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131487
AA Change: V52I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116477
Gene: ENSMUSG00000040596
AA Change: V52I

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
KRAB	47	107	1.53e-19	SMART
Pfam:BrkDBD	195	247	2.1e-29	PFAM
CENPB	256	323	3.93e-21	SMART
Pfam:DDE_1	355	567	1.4e-55	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135673
AA Change: V64I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120352
Gene: ENSMUSG00000040596
AA Change: V64I

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
KRAB	47	107	1.53e-19	SMART
Pfam:BrkDBD	195	247	2.1e-29	PFAM
CENPB	256	323	3.93e-21	SMART
Pfam:DDE_1	355	567	1.4e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148243

SMART Domains

Protein: ENSMUSP00000118877
Gene: ENSMUSG00000040596

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
low complexity region	113	124	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169324
AA Change: V64I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127395
Gene: ENSMUSG00000040596
AA Change: V64I

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
low complexity region	31	46	N/A	INTRINSIC
KRAB	66	126	1.53e-19	SMART
Pfam:BrkDBD	214	266	8.7e-29	PFAM
CENPB	275	342	3.93e-21	SMART
Pfam:DDE_1	414	586	1.5e-48	PFAM

Meta Mutation Damage Score

0.1971

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (39/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
Adamts20	T	A	15: 94,328,845	D1109V	possibly damaging	Het
Apc2	G	C	10: 80,315,088	R1992P	possibly damaging	Het
Atmin	A	G	8: 116,956,297	N232S	probably benign	Het
Brat1	A	C	5: 140,717,996	D668A	possibly damaging	Het
Casp16-ps	A	T	17: 23,552,948	V101E	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Clec7a	A	G	6: 129,468,914	S98P	possibly damaging	Het
Cpne5	G	A	17: 29,159,108	R566C	unknown	Het
Csrnp1	C	T	9: 119,972,641	E451K	probably damaging	Het
Dlst	A	G	12: 85,132,691	T435A	possibly damaging	Het
Dock8	A	G	19: 25,100,905	T525A	possibly damaging	Het
Dync2li1	A	G	17: 84,631,642	T45A	probably damaging	Het
Efcab3	A	G	11: 105,083,887	N5307S	possibly damaging	Het
Epha4	A	G	1: 77,380,902	Y820H	probably damaging	Het
F5	A	G	1: 164,176,229	T198A	probably benign	Het
Fbn2	T	A	18: 58,066,011	N1395I	probably damaging	Het
Fcnb	T	A	2: 28,079,196	Y163F	probably damaging	Het
Gm5444	T	C	13: 4,834,279		noncoding transcript	Het
Jph3	G	T	8: 121,753,419	D279Y	possibly damaging	Het
Kcnj3	A	G	2: 55,437,348	N50D	possibly damaging	Het
Kcnma1	A	G	14: 23,505,255	I416T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Kmt2e	A	G	5: 23,501,642	N1401S	probably benign	Het
Lama5	C	T	2: 180,182,351		probably benign	Het
Lrp1b	A	G	2: 40,822,695	V3095A	probably damaging	Het
Mmp1a	A	G	9: 7,475,345	*372W	probably null	Het
Olfr867	C	T	9: 20,054,873	V197I	probably benign	Het
Pdgfra	T	A	5: 75,192,508	N986K	probably benign	Het
Pgap1	C	T	1: 54,493,348	V671I	probably benign	Het
Pla2g4e	T	C	2: 120,168,604	S760G	probably benign	Het
Plk3	T	C	4: 117,133,436	I94V	probably benign	Het
Pou2f1	G	C	1: 165,894,969	P349R	probably damaging	Het
Rims1	T	A	1: 22,533,497	Q541L	probably benign	Het
Rptn	A	G	3: 93,398,357	Q999R	probably benign	Het
Stxbp5	A	G	10: 9,769,419	L911P	probably damaging	Het
Tgfbr3	A	G	5: 107,214,887		probably benign	Het
Trim7	A	T	11: 48,837,608	T28S	probably damaging	Het
Zfp595	T	C	13: 67,317,315	I295V	probably benign	Het

Other mutations in Pogk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Pogk	APN	1	166408478	missense	probably damaging	1.00
R0395:Pogk	UTSW	1	166403602	missense	probably damaging	1.00
R1387:Pogk	UTSW	1	166400138	missense	possibly damaging	0.85
R1556:Pogk	UTSW	1	166398833	missense	possibly damaging	0.59
R1752:Pogk	UTSW	1	166408428	missense	probably damaging	0.96
R3625:Pogk	UTSW	1	166403512	missense	probably damaging	1.00
R3902:Pogk	UTSW	1	166403624	missense	probably damaging	1.00
R4288:Pogk	UTSW	1	166403506	missense	probably damaging	1.00
R4612:Pogk	UTSW	1	166398765	nonsense	probably null
R5079:Pogk	UTSW	1	166399164	missense	probably damaging	1.00
R5788:Pogk	UTSW	1	166409011	intron	probably benign
R6488:Pogk	UTSW	1	166399422	missense	possibly damaging	0.79
R6708:Pogk	UTSW	1	166403509	missense	probably damaging	1.00
R7603:Pogk	UTSW	1	166401911	missense	probably benign	0.03
X0010:Pogk	UTSW	1	166398797	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACACTGATGAATGTCTCTGGG -3'
(R):5'- ACATCTCATGCAATCAGTACCTG -3'

Sequencing Primer
(F):5'- GTTTGGAGAGTCCCAGAGAC -3'
(R):5'- TCAGTACCTGATGATGCCCAG -3'

Posted On

2015-04-17