Mutagenetix > Incidental Mutation

Incidental Mutation 'R0586:Pogz'

216001

Institutional Source

Beutler Lab

Gene Symbol

Pogz

Ensembl Gene

ENSMUSG00000038902

Gene Name

pogo transposable element with ZNF domain

Synonyms

9530006B08Rik

MMRRC Submission

038776-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R0586 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

94744878-94789637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94786664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1084 (A1084V)

Ref Sequence

ENSEMBL: ENSMUSP00000102891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005923] [ENSMUST00000042402] [ENSMUST00000107266] [ENSMUST00000107269] [ENSMUST00000107270]

AlphaFold

Q8BZH4

Predicted Effect

probably benign
Transcript: ENSMUST00000005923

SMART Domains

Protein: ENSMUSP00000005923
Gene: ENSMUSG00000005779

Domain	Start	End	E-Value	Type
Pfam:Proteasome	50	237	3.1e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042402
AA Change: A1075V

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

SMART Domains

Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: A1075V

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	239	266	N/A	INTRINSIC
low complexity region	328	335	N/A	INTRINSIC
PDB:2E72\|A	362	393	5e-16	PDB
low complexity region	401	436	N/A	INTRINSIC
ZnF_C2H2	482	504	1.64e-1	SMART
ZnF_C2H2	518	541	5.34e0	SMART
ZnF_C2H2	548	571	4.79e-3	SMART
ZnF_C2H2	578	601	9.3e-1	SMART
ZnF_C2H2	607	629	3.34e-2	SMART
ZnF_C2H2	635	657	1.13e1	SMART
ZnF_C2H2	758	781	9.46e0	SMART
ZnF_C2H2	802	827	5.26e1	SMART
low complexity region	896	915	N/A	INTRINSIC
low complexity region	946	955	N/A	INTRINSIC
low complexity region	984	996	N/A	INTRINSIC
CENPB	1008	1072	3.84e-15	SMART
Pfam:DDE_1	1104	1289	3.3e-22	PFAM
low complexity region	1355	1365	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107266
AA Change: A1031V

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

SMART Domains

Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: A1031V

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	186	213	N/A	INTRINSIC
low complexity region	284	291	N/A	INTRINSIC
PDB:2E72\|A	318	349	6e-16	PDB
low complexity region	357	392	N/A	INTRINSIC
ZnF_C2H2	438	460	1.64e-1	SMART
ZnF_C2H2	474	497	5.34e0	SMART
ZnF_C2H2	504	527	4.79e-3	SMART
ZnF_C2H2	534	557	9.3e-1	SMART
ZnF_C2H2	563	585	3.34e-2	SMART
ZnF_C2H2	591	613	1.13e1	SMART
ZnF_C2H2	714	737	9.46e0	SMART
ZnF_C2H2	758	783	5.26e1	SMART
low complexity region	852	871	N/A	INTRINSIC
low complexity region	902	911	N/A	INTRINSIC
low complexity region	940	952	N/A	INTRINSIC
CENPB	964	1028	3.84e-15	SMART
Pfam:DDE_1	1060	1245	1.1e-22	PFAM
low complexity region	1311	1321	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107269
AA Change: A989V

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

SMART Domains

Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: A989V

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	144	171	N/A	INTRINSIC
low complexity region	242	249	N/A	INTRINSIC
PDB:2E72\|A	276	307	5e-16	PDB
low complexity region	315	350	N/A	INTRINSIC
ZnF_C2H2	396	418	1.64e-1	SMART
ZnF_C2H2	432	455	5.34e0	SMART
ZnF_C2H2	462	485	4.79e-3	SMART
ZnF_C2H2	492	515	9.3e-1	SMART
ZnF_C2H2	521	543	3.34e-2	SMART
ZnF_C2H2	549	571	1.13e1	SMART
ZnF_C2H2	672	695	9.46e0	SMART
ZnF_C2H2	716	741	5.26e1	SMART
low complexity region	810	829	N/A	INTRINSIC
low complexity region	860	869	N/A	INTRINSIC
low complexity region	898	910	N/A	INTRINSIC
CENPB	922	986	3.84e-15	SMART
Pfam:DDE_1	1018	1203	1.1e-22	PFAM
low complexity region	1269	1279	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107270
AA Change: A1084V

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

SMART Domains

Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: A1084V

Domain	Start	End	E-Value	Type
low complexity region	9	16	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	239	266	N/A	INTRINSIC
low complexity region	337	344	N/A	INTRINSIC
PDB:2E72\|A	371	402	5e-16	PDB
low complexity region	410	445	N/A	INTRINSIC
ZnF_C2H2	491	513	1.64e-1	SMART
ZnF_C2H2	527	550	5.34e0	SMART
ZnF_C2H2	557	580	4.79e-3	SMART
ZnF_C2H2	587	610	9.3e-1	SMART
ZnF_C2H2	616	638	3.34e-2	SMART
ZnF_C2H2	644	666	1.13e1	SMART
ZnF_C2H2	767	790	9.46e0	SMART
ZnF_C2H2	811	836	5.26e1	SMART
low complexity region	905	924	N/A	INTRINSIC
low complexity region	955	964	N/A	INTRINSIC
low complexity region	993	1005	N/A	INTRINSIC
CENPB	1017	1081	3.84e-15	SMART
Pfam:DDE_1	1150	1298	1.5e-18	PFAM
low complexity region	1364	1374	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142253

Meta Mutation Damage Score

0.1152

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.4%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,092,860 (GRCm39)	V308E	probably benign	Het
Amy1	A	G	3: 113,356,418 (GRCm39)		probably benign	Het
Astn2	C	T	4: 66,103,379 (GRCm39)	V345M	unknown	Het
Brwd1	T	C	16: 95,844,286 (GRCm39)	E756G	probably damaging	Het
Ccpg1	C	T	9: 72,909,103 (GRCm39)	L135F	probably benign	Het
Cecr2	C	T	6: 120,734,845 (GRCm39)	H694Y	probably damaging	Het
Cfh	G	A	1: 140,110,920 (GRCm39)	T14I	probably damaging	Het
Cfhr2	G	A	1: 139,741,172 (GRCm39)	R268*	probably null	Het
Clca3a1	T	A	3: 144,738,350 (GRCm39)	I53L	probably benign	Het
Clcn6	A	G	4: 148,123,206 (GRCm39)		probably benign	Het
Cnfn	C	T	7: 25,067,256 (GRCm39)	V98I	probably benign	Het
Cntnap1	C	T	11: 101,077,840 (GRCm39)	R1122W	probably damaging	Het
Cpne9	A	T	6: 113,272,024 (GRCm39)	E384V	probably damaging	Het
Ctr9	T	C	7: 110,648,705 (GRCm39)		probably benign	Het
Ctsj	T	A	13: 61,151,515 (GRCm39)		probably benign	Het
Cyp2c39	A	C	19: 39,501,934 (GRCm39)		probably benign	Het
Dock5	A	C	14: 68,046,481 (GRCm39)	I767S	probably damaging	Het
Eftud2	T	C	11: 102,737,446 (GRCm39)	T552A	probably damaging	Het
Epdr1	A	G	13: 19,778,715 (GRCm39)	I25T	probably damaging	Het
Fcgbp	A	T	7: 27,789,138 (GRCm39)	D568V	probably damaging	Het
Fcgbpl1	T	A	7: 27,836,516 (GRCm39)	V145D	probably damaging	Het
Fhip1b	T	C	7: 105,038,654 (GRCm39)	E195G	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fuz	T	C	7: 44,547,982 (GRCm39)	V183A	possibly damaging	Het
Grb7	T	C	11: 98,344,046 (GRCm39)	S284P	probably damaging	Het
Hoxb4	G	T	11: 96,209,713 (GRCm39)	G40C	probably damaging	Het
Kcnn1	T	C	8: 71,316,513 (GRCm39)		probably benign	Het
Kmt2d	C	A	15: 98,733,088 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,203,732 (GRCm39)	V366A	unknown	Het
Ldlr	G	A	9: 21,651,040 (GRCm39)	R486H	probably benign	Het
Lnpep	A	T	17: 17,795,658 (GRCm39)		probably benign	Het
Mical3	A	T	6: 121,006,602 (GRCm39)		probably benign	Het
Myh15	T	C	16: 48,992,250 (GRCm39)		probably benign	Het
Nup155	T	A	15: 8,159,716 (GRCm39)	H542Q	probably benign	Het
Opn4	A	G	14: 34,320,930 (GRCm39)		probably benign	Het
Or13a20	T	C	7: 140,231,976 (GRCm39)	F28S	probably benign	Het
Or4a68	T	A	2: 89,269,698 (GRCm39)	R308S	possibly damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Or8g4	A	T	9: 39,662,414 (GRCm39)	H244L	probably damaging	Het
Or8h10	T	C	2: 86,809,126 (GRCm39)	N5D	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp14	T	C	16: 35,661,382 (GRCm39)	K1522R	probably benign	Het
Pkhd1	A	T	1: 20,594,335 (GRCm39)	D1259E	probably benign	Het
Popdc3	G	A	10: 45,191,359 (GRCm39)	V157M	probably benign	Het
Prrt4	T	C	6: 29,171,183 (GRCm39)	Y423C	probably damaging	Het
Qrich1	C	T	9: 108,411,719 (GRCm39)	H415Y	probably damaging	Het
Rabgap1	A	G	2: 37,433,235 (GRCm39)	N801D	probably benign	Het
Rb1	A	G	14: 73,525,124 (GRCm39)		probably benign	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Ryr2	T	C	13: 11,650,445 (GRCm39)	D356G	probably null	Het
Skint8	C	G	4: 111,794,126 (GRCm39)	P172R	probably damaging	Het
Slc12a8	T	G	16: 33,478,600 (GRCm39)	M643R	possibly damaging	Het
Sult1c2	A	T	17: 54,271,113 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,640,321 (GRCm39)	L272P	probably damaging	Het
Tcaf1	T	A	6: 42,650,473 (GRCm39)	M869L	probably damaging	Het
Tecpr1	T	C	5: 144,154,219 (GRCm39)	N78S	probably damaging	Het
Tectb	A	T	19: 55,170,356 (GRCm39)	Y69F	probably damaging	Het
Them4	A	T	3: 94,237,101 (GRCm39)	N187I	possibly damaging	Het
Tm9sf3	A	G	19: 41,244,582 (GRCm39)		probably null	Het
Tnik	G	T	3: 28,631,510 (GRCm39)		probably benign	Het
Tns2	G	T	15: 102,018,020 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,891,118 (GRCm39)	D487G	probably damaging	Het
Trim33	T	A	3: 103,217,660 (GRCm39)	C202S	probably damaging	Het
Trpm2	T	A	10: 77,759,350 (GRCm39)	I1145F	probably damaging	Het
Trpv2	A	G	11: 62,483,596 (GRCm39)	T478A	probably benign	Het
Ube2e3	T	C	2: 78,750,334 (GRCm39)	Y187H	probably benign	Het
Ubxn11	A	G	4: 133,836,963 (GRCm39)	R64G	possibly damaging	Het
Wwtr1	T	C	3: 57,366,487 (GRCm39)	T407A	probably damaging	Het
Zfyve26	A	T	12: 79,315,502 (GRCm39)	S1325T	possibly damaging	Het

Other mutations in Pogz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Pogz	APN	3	94,782,014 (GRCm39)	unclassified	probably benign
IGL02225:Pogz	APN	3	94,786,327 (GRCm39)	missense	probably damaging	0.99
IGL02377:Pogz	APN	3	94,786,321 (GRCm39)	missense	probably damaging	1.00
IGL02468:Pogz	APN	3	94,786,394 (GRCm39)	missense	probably damaging	0.97
IGL02672:Pogz	APN	3	94,763,410 (GRCm39)	missense	probably benign	0.08
IGL03290:Pogz	APN	3	94,782,402 (GRCm39)	unclassified	probably benign
FR4976:Pogz	UTSW	3	94,782,006 (GRCm39)	unclassified	probably benign
PIT4382001:Pogz	UTSW	3	94,787,107 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Pogz	UTSW	3	94,779,681 (GRCm39)	missense	probably damaging	1.00
R0326:Pogz	UTSW	3	94,777,424 (GRCm39)	missense	probably damaging	1.00
R0401:Pogz	UTSW	3	94,784,336 (GRCm39)	missense	possibly damaging	0.81
R0479:Pogz	UTSW	3	94,783,947 (GRCm39)	missense	possibly damaging	0.92
R1349:Pogz	UTSW	3	94,768,199 (GRCm39)	missense	probably damaging	1.00
R1372:Pogz	UTSW	3	94,768,199 (GRCm39)	missense	probably damaging	1.00
R1670:Pogz	UTSW	3	94,786,160 (GRCm39)	missense	probably benign	0.21
R1780:Pogz	UTSW	3	94,777,437 (GRCm39)	missense	possibly damaging	0.54
R1854:Pogz	UTSW	3	94,786,160 (GRCm39)	missense	probably benign	0.21
R1855:Pogz	UTSW	3	94,786,160 (GRCm39)	missense	probably benign	0.21
R1964:Pogz	UTSW	3	94,785,504 (GRCm39)	missense	probably benign	0.36
R1995:Pogz	UTSW	3	94,785,255 (GRCm39)	missense	probably damaging	1.00
R2109:Pogz	UTSW	3	94,786,276 (GRCm39)	missense	probably benign
R2139:Pogz	UTSW	3	94,778,318 (GRCm39)	missense	possibly damaging	0.95
R4457:Pogz	UTSW	3	94,763,374 (GRCm39)	missense	probably benign	0.14
R4598:Pogz	UTSW	3	94,787,491 (GRCm39)	missense	possibly damaging	0.52
R5598:Pogz	UTSW	3	94,771,820 (GRCm39)	missense	probably damaging	1.00
R5999:Pogz	UTSW	3	94,763,428 (GRCm39)	missense	possibly damaging	0.77
R6104:Pogz	UTSW	3	94,787,342 (GRCm39)	missense	probably benign	0.09
R7017:Pogz	UTSW	3	94,761,335 (GRCm39)	missense	probably damaging	0.99
R7632:Pogz	UTSW	3	94,763,517 (GRCm39)	splice site	probably null
R7788:Pogz	UTSW	3	94,782,544 (GRCm39)	missense	probably damaging	0.99
R7810:Pogz	UTSW	3	94,777,418 (GRCm39)	missense	probably benign	0.00
R8396:Pogz	UTSW	3	94,786,061 (GRCm39)	missense	probably benign	0.00
R8681:Pogz	UTSW	3	94,768,234 (GRCm39)	missense	probably damaging	1.00
R8981:Pogz	UTSW	3	94,786,226 (GRCm39)	missense	probably damaging	0.96
R8982:Pogz	UTSW	3	94,786,879 (GRCm39)	missense	probably damaging	1.00
R9024:Pogz	UTSW	3	94,785,543 (GRCm39)	missense	probably damaging	1.00
R9056:Pogz	UTSW	3	94,787,530 (GRCm39)	missense	probably benign	0.02
R9316:Pogz	UTSW	3	94,784,659 (GRCm39)	missense	probably damaging	1.00
RF014:Pogz	UTSW	3	94,785,558 (GRCm39)	missense	possibly damaging	0.77
Z1088:Pogz	UTSW	3	94,786,387 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACTGAACAGGCGGCTGAAC -3'
(R):5'- ATCTGCTAGGATAGCCAGCACGAC -3'

Sequencing Primer
(F):5'- AGGCGGCTGAACACTTTC -3'
(R):5'- ACCAAGGCTCCCCTGTG -3'

Posted On

2014-07-16