Mutagenetix > Incidental Mutation

Incidental Mutation 'R9246:Pogk'

701276

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

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

R9246 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

166221179-166237402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 166226380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 590 (H590Q)

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 damaging
Transcript: ENSMUST00000128861
AA Change: H578Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118270
Gene: ENSMUSG00000040596
AA Change: H578Q

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: H578Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116477
Gene: ENSMUSG00000040596
AA Change: H578Q

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: H590Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120352
Gene: ENSMUSG00000040596
AA Change: H590Q

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: H590Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127395
Gene: ENSMUSG00000040596
AA Change: H590Q

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

Coding Region Coverage

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

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,279,961 (GRCm39)	T314I	probably benign	Het
Abca7	G	A	10: 79,838,535 (GRCm39)	S603N	probably damaging	Het
Abcc2	T	C	19: 43,786,882 (GRCm39)	F168L	probably benign	Het
Abcc8	T	C	7: 45,774,289 (GRCm39)	T764A	probably benign	Het
Acot4	A	C	12: 84,090,097 (GRCm39)	I265L	probably benign	Het
Adrb2	C	A	18: 62,312,226 (GRCm39)	A200S	probably damaging	Het
Atp2c2	G	T	8: 120,456,989 (GRCm39)	R197L	probably damaging	Het
Bmpr1a	T	C	14: 34,156,664 (GRCm39)	T121A	probably benign	Het
Brwd1	A	T	16: 95,804,016 (GRCm39)	S2051R	probably benign	Het
Card10	T	C	15: 78,673,036 (GRCm39)	E547G	possibly damaging	Het
Cbln1	A	T	8: 88,197,048 (GRCm39)	I139N	probably damaging	Het
Ccdc86	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	19: 10,926,162 (GRCm39)		probably benign	Het
Cdh16	C	T	8: 105,344,602 (GRCm39)	D510N	probably benign	Het
Cdh2	G	A	18: 16,781,654 (GRCm39)	Q146*	probably null	Het
Cdhr1	T	G	14: 36,801,654 (GRCm39)	K763T	possibly damaging	Het
Cfl1	G	C	19: 5,543,634 (GRCm39)	G204R	probably damaging	Het
Clcn6	A	T	4: 148,113,866 (GRCm39)	V64E	probably benign	Het
Col4a4	G	A	1: 82,430,956 (GRCm39)	P1649S	unknown	Het
Ctnna1	T	A	18: 35,356,562 (GRCm39)	N410K	probably benign	Het
Dhx34	A	G	7: 15,937,162 (GRCm39)	F845S	probably damaging	Het
Dnah7c	T	G	1: 46,571,934 (GRCm39)	N802K	possibly damaging	Het
Dnmt3a	T	C	12: 3,949,204 (GRCm39)	S492P	probably damaging	Het
Fhit	C	A	14: 10,421,494 (GRCm38)		probably null	Het
Fzd2	A	T	11: 102,496,749 (GRCm39)	I398F	possibly damaging	Het
Gm9195	A	G	14: 72,710,314 (GRCm39)	S457P	probably benign	Het
Gnao1	A	G	8: 94,676,967 (GRCm39)	K211E		Het
Gzme	T	C	14: 56,356,198 (GRCm39)	D100G	probably benign	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Hoxd4	G	A	2: 74,558,747 (GRCm39)	C190Y	possibly damaging	Het
Hr	T	A	14: 70,808,915 (GRCm39)	V1097E	probably damaging	Het
Iqca1l	T	G	5: 24,753,969 (GRCm39)	E430A	probably benign	Het
Kdm3b	A	T	18: 34,941,480 (GRCm39)	K524*	probably null	Het
Kif18a	A	G	2: 109,163,819 (GRCm39)	T723A	probably benign	Het
Kif1a	A	G	1: 93,005,501 (GRCm39)	V91A	probably damaging	Het
Krtap19-2	AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA	AAAGCCTCCA	16: 88,670,859 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,710,959 (GRCm39)	V1559M	probably damaging	Het
Maco1	A	G	4: 134,565,242 (GRCm39)	V47A	possibly damaging	Het
Msto1	A	T	3: 88,819,411 (GRCm39)	I160N	probably damaging	Het
Muc5ac	C	A	7: 141,364,215 (GRCm39)	Q2509K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1ad8	T	A	11: 50,897,891 (GRCm39)	F31I	probably damaging	Het
Or2ag2b	C	T	7: 106,417,938 (GRCm39)	T216I	probably benign	Het
Or52ad1	C	T	7: 102,995,908 (GRCm39)	V76I	probably damaging	Het
Or7e170	T	C	9: 19,795,686 (GRCm39)		probably benign	Het
Or8k21	A	T	2: 86,145,222 (GRCm39)	M136K	probably damaging	Het
Pik3c3	C	A	18: 30,466,364 (GRCm39)	A805D	probably damaging	Het
Pnn	A	G	12: 59,116,929 (GRCm39)	Q167R	probably damaging	Het
Prkcd	A	G	14: 30,327,432 (GRCm39)	L251P	probably damaging	Het
Prrc1	T	A	18: 57,496,208 (GRCm39)	V53E	probably benign	Het
Ripor1	T	C	8: 106,345,522 (GRCm39)	F856S	unknown	Het
Rnf31	G	A	14: 55,833,698 (GRCm39)	A569T	probably benign	Het
Robo1	T	A	16: 72,769,178 (GRCm39)	D532E	probably benign	Het
Sh2d6	T	A	6: 72,497,594 (GRCm39)	K3*	probably null	Het
Slc22a27	T	C	19: 7,874,209 (GRCm39)	T289A	probably benign	Het
Speg	T	C	1: 75,361,498 (GRCm39)	S171P	probably damaging	Het
Stag1	T	A	9: 100,770,329 (GRCm39)	F622I	probably benign	Het
Stxbp1	T	C	2: 32,679,586 (GRCm39)	D589G	possibly damaging	Het
Syne1	T	C	10: 5,255,706 (GRCm39)	I2391M	probably benign	Het
Sytl2	A	G	7: 90,007,384 (GRCm39)	M49V	probably benign	Het
Tmem185b	T	C	1: 119,454,368 (GRCm39)	V43A	probably damaging	Het
Trappc8	A	T	18: 20,993,590 (GRCm39)	M499K	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,593 (GRCm39)	S159R	possibly damaging	Het
Vmn1r62	A	G	7: 5,678,628 (GRCm39)	Y103C	probably damaging	Het
Vmn1r65	C	T	7: 6,011,769 (GRCm39)	C155Y	possibly damaging	Het
Vmn2r112	G	A	17: 22,824,088 (GRCm39)	V448I	probably benign	Het
Zfp592	A	T	7: 80,691,529 (GRCm39)	D1236V	probably benign	Het
Zfp827	T	C	8: 79,803,132 (GRCm39)	V568A	possibly damaging	Het
Zscan4-ps3	A	T	7: 11,346,320 (GRCm39)	I147F	probably damaging	Het

Other mutations in Pogk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Pogk	APN	1	166,236,047 (GRCm39)	missense	probably damaging	1.00
R0395:Pogk	UTSW	1	166,231,171 (GRCm39)	missense	probably damaging	1.00
R1387:Pogk	UTSW	1	166,227,707 (GRCm39)	missense	possibly damaging	0.85
R1556:Pogk	UTSW	1	166,226,402 (GRCm39)	missense	possibly damaging	0.59
R1752:Pogk	UTSW	1	166,235,997 (GRCm39)	missense	probably damaging	0.96
R3625:Pogk	UTSW	1	166,231,081 (GRCm39)	missense	probably damaging	1.00
R3901:Pogk	UTSW	1	166,231,193 (GRCm39)	missense	probably damaging	1.00
R3902:Pogk	UTSW	1	166,231,193 (GRCm39)	missense	probably damaging	1.00
R4288:Pogk	UTSW	1	166,231,075 (GRCm39)	missense	probably damaging	1.00
R4612:Pogk	UTSW	1	166,226,334 (GRCm39)	nonsense	probably null
R5079:Pogk	UTSW	1	166,226,733 (GRCm39)	missense	probably damaging	1.00
R5788:Pogk	UTSW	1	166,236,580 (GRCm39)	intron	probably benign
R6488:Pogk	UTSW	1	166,226,991 (GRCm39)	missense	possibly damaging	0.79
R6708:Pogk	UTSW	1	166,231,078 (GRCm39)	missense	probably damaging	1.00
R7603:Pogk	UTSW	1	166,229,480 (GRCm39)	missense	probably benign	0.03
R8100:Pogk	UTSW	1	166,229,511 (GRCm39)	missense	possibly damaging	0.95
R8950:Pogk	UTSW	1	166,226,394 (GRCm39)	missense	probably damaging	1.00
R9036:Pogk	UTSW	1	166,227,254 (GRCm39)	missense	possibly damaging	0.85
R9272:Pogk	UTSW	1	166,226,780 (GRCm39)	missense	probably damaging	1.00
R9477:Pogk	UTSW	1	166,227,404 (GRCm39)	missense	probably damaging	0.99
X0010:Pogk	UTSW	1	166,226,366 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGGTAAGTGCTAGCCATG -3'
(R):5'- TCTGTGAAGAGTTCCATGGAGAAC -3'

Sequencing Primer
(F):5'- GGACCACATTCTTTTGGC -3'
(R):5'- GTTGTCTACAAGCCTCTGAACGAC -3'

Posted On

2022-03-25