Mutagenetix > Incidental Mutations

Incidental Mutation 'R3625:Pogk'

269363

Institutional Source

Beutler Lab

Gene Symbol

Pogk

Ensembl Gene

ENSMUSG00000040596

Gene Name

pogo transposable element with KRAB domain

Synonyms

BASS2, 9130401E23Rik

MMRRC Submission

040679-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3625 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

166384622-166409863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 166403512 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 82 (T82I)

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: T82I

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

SMART Domains

Protein: ENSMUSP00000120963
Gene: ENSMUSG00000040596
AA Change: T82I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128861
AA Change: T89I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118270
Gene: ENSMUSG00000040596
AA Change: T89I

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 damaging
Transcript: ENSMUST00000131487
AA Change: T89I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116477
Gene: ENSMUSG00000040596
AA Change: T89I

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 damaging
Transcript: ENSMUST00000135673
AA Change: T101I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120352
Gene: ENSMUSG00000040596
AA Change: T101I

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

probably damaging
Transcript: ENSMUST00000169324
AA Change: T101I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127395
Gene: ENSMUSG00000040596
AA Change: T101I

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

0.5372

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atg3	T	A	16: 45,175,261	I119N	probably benign	Het
Cdh12	G	C	15: 21,358,756	V89L	probably damaging	Het
Cdh3	C	A	8: 106,543,678	H396N	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Dab2ip	C	A	2: 35,643,891	S43*	probably null	Het
Dmxl2	A	G	9: 54,393,643	S2394P	probably benign	Het
F13a1	T	G	13: 36,898,093	N546H	probably benign	Het
Fbn2	T	C	18: 58,061,742	N1449S	probably damaging	Het
Flywch1	T	C	17: 23,760,201		probably benign	Het
Gm10436	T	C	12: 88,175,961	S296G	probably benign	Het
Gm498	T	C	7: 143,871,854	V80A	possibly damaging	Het
Grxcr2	T	A	18: 41,998,818	D62V	probably damaging	Het
Hist1h2bg	T	C	13: 23,571,451		probably benign	Het
Ifnab	A	T	4: 88,690,779	I150N	probably damaging	Het
Igsf8	T	C	1: 172,317,769	V284A	probably benign	Het
Kdm1a	T	C	4: 136,561,108	E388G	possibly damaging	Het
Map3k8	G	A	18: 4,333,965	R376C	probably damaging	Het
Map6	A	T	7: 99,269,195	T189S	possibly damaging	Het
Mms22l	T	A	4: 24,505,357	S206T	probably damaging	Het
N4bp1	A	G	8: 86,851,709	L676S	probably damaging	Het
Nkx6-2	A	G	7: 139,582,190	F117S	possibly damaging	Het
Ociad2	C	T	5: 73,323,830	C72Y	probably damaging	Het
Olfr1490	T	A	19: 13,654,982	C184*	probably null	Het
Olfr672	A	T	7: 104,995,984	F307I	probably benign	Het
Pcdhb6	G	T	18: 37,336,140	V21L	probably damaging	Het
Prkcsh	A	G	9: 22,011,252	E283G	probably null	Het
Prkd3	C	T	17: 78,985,304	R113H	probably damaging	Het
Rabgef1	T	C	5: 130,212,120		probably null	Het
Rec8	T	C	14: 55,622,497	I234T	possibly damaging	Het
Sim1	A	T	10: 50,981,336	H394L	probably benign	Het
Thy1	A	G	9: 44,046,731	E52G	probably damaging	Het
Trav14n-3	A	T	14: 53,370,086	I4F	probably damaging	Het
Trim15	T	C	17: 36,866,876	T76A	possibly damaging	Het
Ttn	A	G	2: 76,768,801	I19288T	probably damaging	Het
Vmn1r6	C	T	6: 57,002,935	T172I	probably damaging	Het
Vmn2r52	A	T	7: 10,159,178	L678Q	probably damaging	Het
Vpreb1	T	C	16: 16,868,804	H74R	probably benign	Het
Yeats4	T	C	10: 117,220,368	I100V	probably benign	Het
Zfp36	C	A	7: 28,378,256	A76S	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
R3901:Pogk	UTSW	1	166403624	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'- CCAGGAAATTAGGTTGACATAGGC -3'
(R):5'- TTGTCTCCAAGAGCAGTGAG -3'

Sequencing Primer
(F):5'- AAATTAGGTTGACATAGGCTTGGGC -3'
(R):5'- CCCTGAAGTGACCTGTGAGAATG -3'

Posted On

2015-02-19