Mutagenetix > Incidental Mutation

Incidental Mutation 'R1752:Pogk'

193578

Institutional Source

Beutler Lab

Gene Symbol

Pogk

Ensembl Gene

ENSMUSG00000040596

Gene Name

pogo transposable element with KRAB domain

Synonyms

BASS2, 9130401E23Rik

MMRRC Submission

039784-MU

Accession Numbers

Essential gene?

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

Stock #

R1752 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166221179-166237402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166235997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 35 (K35E)

Ref Sequence

ENSEMBL: ENSMUSP00000120963 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000127596
AA Change: K35E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120963
Gene: ENSMUSG00000040596
AA Change: K35E

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: K42E

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118270
Gene: ENSMUSG00000040596
AA Change: K42E

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: K42E

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116477
Gene: ENSMUSG00000040596
AA Change: K42E

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: K54E

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120352
Gene: ENSMUSG00000040596
AA Change: K54E

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

unknown
Transcript: ENSMUST00000148243
AA Change: K35E

SMART Domains

Protein: ENSMUSP00000118877
Gene: ENSMUSG00000040596
AA Change: K35E

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: K54E

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127395
Gene: ENSMUSG00000040596
AA Change: K54E

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Accsl	C	T	2: 93,688,375 (GRCm39)	G420S	probably damaging	Het
Adam29	A	G	8: 56,325,309 (GRCm39)	S382P	probably damaging	Het
Apob	T	C	12: 8,038,766 (GRCm39)	L393P	probably benign	Het
Arhgef19	T	G	4: 140,978,354 (GRCm39)	S616A	probably benign	Het
Atp11a	C	T	8: 12,863,094 (GRCm39)	T91I	probably damaging	Het
Ccdc88b	C	T	19: 6,830,690 (GRCm39)	V751I	probably benign	Het
Ccni	T	C	5: 93,350,315 (GRCm39)		probably benign	Het
Cd2	G	A	3: 101,183,511 (GRCm39)	A266V	probably benign	Het
Cd33	T	C	7: 43,181,722 (GRCm39)	D146G	probably benign	Het
Cdh16	A	G	8: 105,346,505 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,963,494 (GRCm39)		probably null	Het
Chd5	A	T	4: 152,459,590 (GRCm39)	I1109F	probably damaging	Het
Cir1	T	C	2: 73,140,882 (GRCm39)	E29G	probably damaging	Het
Clec5a	T	C	6: 40,559,187 (GRCm39)	T66A	probably damaging	Het
Cpa2	A	G	6: 30,552,023 (GRCm39)	D250G	probably damaging	Het
Crybg2	T	A	4: 133,800,961 (GRCm39)	L707H	probably damaging	Het
Csmd3	T	C	15: 47,523,669 (GRCm39)	T2646A	probably benign	Het
Cul7	G	A	17: 46,964,093 (GRCm39)	R390Q	probably benign	Het
Cyp2c69	T	A	19: 39,869,597 (GRCm39)	I141F	probably damaging	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Dclk2	C	T	3: 86,713,434 (GRCm39)	V470I	possibly damaging	Het
Dixdc1	A	G	9: 50,593,850 (GRCm39)	V530A	probably benign	Het
Dock7	A	G	4: 98,854,681 (GRCm39)	F1528L	probably damaging	Het
Edn1	T	A	13: 42,457,075 (GRCm39)	V36E	possibly damaging	Het
Eng	T	C	2: 32,563,404 (GRCm39)	V319A	probably benign	Het
Epb41l2	A	G	10: 25,336,690 (GRCm39)	K229E	probably damaging	Het
Fam184a	T	C	10: 53,550,666 (GRCm39)	N698S	probably benign	Het
Fndc7	T	C	3: 108,776,646 (GRCm39)	N465S	probably benign	Het
Fstl4	T	C	11: 53,077,622 (GRCm39)	V793A	probably benign	Het
Gm9797	A	T	10: 11,485,287 (GRCm39)		noncoding transcript	Het
Hsd17b4	T	C	18: 50,303,834 (GRCm39)	S436P	probably benign	Het
Itsn2	T	G	12: 4,761,950 (GRCm39)		probably null	Het
Kank3	T	C	17: 34,038,791 (GRCm39)	V570A	probably damaging	Het
Kif13a	A	T	13: 46,951,885 (GRCm39)	F733Y	probably damaging	Het
Kif16b	G	T	2: 142,532,586 (GRCm39)	D1184E	probably benign	Het
Kif20a	A	G	18: 34,764,634 (GRCm39)	D727G	possibly damaging	Het
Kif20b	T	A	19: 34,915,736 (GRCm39)	S504R	probably benign	Het
Lrrc37	T	C	11: 103,505,381 (GRCm39)	T2196A	possibly damaging	Het
Ltbp3	C	A	19: 5,795,685 (GRCm39)	H180Q	probably benign	Het
Luzp2	T	C	7: 54,914,088 (GRCm39)	S306P	possibly damaging	Het
Macf1	T	C	4: 123,377,465 (GRCm39)	I1490V	possibly damaging	Het
Manba	T	A	3: 135,212,706 (GRCm39)	W72R	probably damaging	Het
Mast1	A	G	8: 85,651,965 (GRCm39)	V339A	probably benign	Het
Mnx1	A	G	5: 29,682,727 (GRCm39)	S183P	unknown	Het
Muc5b	T	G	7: 141,421,488 (GRCm39)	L4326R	possibly damaging	Het
Myb	T	C	10: 21,032,336 (GRCm39)	D15G	possibly damaging	Het
Ncapg2	A	T	12: 116,390,338 (GRCm39)	D429V	probably damaging	Het
Neurod6	A	G	6: 55,656,511 (GRCm39)	V42A	probably benign	Het
Nfxl1	A	T	5: 72,698,218 (GRCm39)	C276S	probably damaging	Het
Nptx2	C	A	5: 144,492,171 (GRCm39)	T316N	probably damaging	Het
Nrp2	T	A	1: 62,777,600 (GRCm39)	F135Y	probably damaging	Het
Nxpe3	A	T	16: 55,686,837 (GRCm39)	F57Y	probably benign	Het
Or4c109	C	A	2: 88,817,659 (GRCm39)	A296S	possibly damaging	Het
Or51ag1	T	A	7: 103,155,765 (GRCm39)	R129S	probably benign	Het
Osbpl11	T	C	16: 33,025,205 (GRCm39)	Y144H	probably damaging	Het
Pax5	T	C	4: 44,609,729 (GRCm39)	Y233C	probably damaging	Het
Pck1	A	G	2: 172,998,906 (GRCm39)	N388S	probably benign	Het
Plcd3	T	A	11: 102,971,085 (GRCm39)	Q157L	probably benign	Het
Pnma2	A	C	14: 67,153,785 (GRCm39)	M70L	probably benign	Het
Ptprb	T	A	10: 116,176,895 (GRCm39)	V1227E	probably benign	Het
Pygm	T	A	19: 6,441,064 (GRCm39)	V450E	probably damaging	Het
Rb1	T	A	14: 73,525,064 (GRCm39)	I190F	probably damaging	Het
Setd2	T	A	9: 110,423,673 (GRCm39)	Y2243N	probably damaging	Het
Slc11a2	A	T	15: 100,303,687 (GRCm39)	L182Q	probably damaging	Het
Slc45a3	T	C	1: 131,905,259 (GRCm39)	L94P	probably damaging	Het
Slc9a4	T	C	1: 40,668,421 (GRCm39)	F688S	probably benign	Het
Slit3	A	T	11: 35,455,480 (GRCm39)	I196F	probably damaging	Het
Sprn	G	A	7: 139,733,408 (GRCm39)		probably benign	Het
Spsb2	A	G	6: 124,787,292 (GRCm39)	D242G	probably benign	Het
Srpk2	A	G	5: 23,733,017 (GRCm39)	I111T	probably damaging	Het
St8sia4	T	A	1: 95,519,537 (GRCm39)	Y317F	probably benign	Het
Stat5a	T	A	11: 100,774,884 (GRCm39)	*798K	probably null	Het
Sult1c2	C	T	17: 54,271,777 (GRCm39)	V137M	possibly damaging	Het
Synj1	T	C	16: 90,735,361 (GRCm39)	T1531A	probably benign	Het
Tasor	T	A	14: 27,193,885 (GRCm39)	Y1028*	probably null	Het
Tax1bp1	A	G	6: 52,698,398 (GRCm39)	T37A	probably damaging	Het
Tet1	T	A	10: 62,648,768 (GRCm39)	D1888V	probably damaging	Het
Tln1	T	C	4: 43,536,311 (GRCm39)	T1994A	probably damaging	Het
Tmco3	A	C	8: 13,341,741 (GRCm39)	D5A	probably benign	Het
Tnk1	T	A	11: 69,747,532 (GRCm39)	N74I	possibly damaging	Het
Ttc16	A	T	2: 32,662,162 (GRCm39)	S120T	probably damaging	Het
Ttn	T	A	2: 76,774,448 (GRCm39)	T2153S	probably damaging	Het
Ttn	A	G	2: 76,594,606 (GRCm39)	V20480A	probably damaging	Het
Usp4	T	C	9: 108,251,441 (GRCm39)	Y539H	probably damaging	Het
Zar1	A	C	5: 72,734,715 (GRCm39)	V168G	probably damaging	Het
Zcchc9	T	C	13: 91,953,899 (GRCm39)	K119E	possibly damaging	Het
Zfp251	T	C	15: 76,737,863 (GRCm39)	N410S	possibly damaging	Het
Zfp605	A	T	5: 110,271,639 (GRCm39)	D10V	probably damaging	Het
Zyg11a	A	T	4: 108,062,479 (GRCm39)	N107K	possibly 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
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
R9246:Pogk	UTSW	1	166,226,380 (GRCm39)	missense	probably damaging	0.98
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'- ACACCTCTCATGCCAGCTCTATGAC -3'
(R):5'- GTTCCCACTGACACCTGATTGTCTG -3'

Sequencing Primer
(F):5'- TGAGACCTGTAATCAGCCTTG -3'
(R):5'- GCTAACTCTTGAATGCAGAAATGG -3'

Posted On

2014-05-23