Mutagenetix > Incidental Mutation

Incidental Mutation 'R7603:Pogk'

588097

Institutional Source

Beutler Lab

Gene Symbol

Pogk

Ensembl Gene

ENSMUSG00000040596

Gene Name

pogo transposable element with KRAB domain

Synonyms

BASS2, 9130401E23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166384622-166409863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166401911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 124 (C124R)

Ref Sequence

ENSEMBL: ENSMUSP00000120352 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000127596

SMART Domains

Protein: ENSMUSP00000120963
Gene: ENSMUSG00000040596

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128861
AA Change: C112R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118270
Gene: ENSMUSG00000040596
AA Change: C112R

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: ENSMUST00000131487
AA Change: C112R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116477
Gene: ENSMUSG00000040596
AA Change: C112R

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: ENSMUST00000135673
AA Change: C124R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000120352
Gene: ENSMUSG00000040596
AA Change: C124R

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 benign
Transcript: ENSMUST00000169324
AA Change: C124R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000127395
Gene: ENSMUSG00000040596
AA Change: C124R

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably damaging	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
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
R8100:Pogk	UTSW	1	166401942	missense	possibly damaging	0.95
R8950:Pogk	UTSW	1	166398825	missense	probably damaging	1.00
R9036:Pogk	UTSW	1	166399685	missense	possibly damaging	0.85
R9246:Pogk	UTSW	1	166398811	missense	probably damaging	0.98
R9272:Pogk	UTSW	1	166399211	missense	probably damaging	1.00
R9477:Pogk	UTSW	1	166399835	missense	probably damaging	0.99
X0010:Pogk	UTSW	1	166398797	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACACCAGGTTGCACATG -3'
(R):5'- GAAAGCCCCGACTGACTTTG -3'

Sequencing Primer
(F):5'- CCAGGTTGCACATGAACCAGTAATG -3'
(R):5'- CGACTGACTTTGCTTTGCATC -3'

Posted On

2019-10-24