Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Pogz'

601064

Institutional Source

Beutler Lab

Gene Symbol

Pogz

Ensembl Gene

ENSMUSG00000038902

Gene Name

pogo transposable element with ZNF domain

Synonyms

9530006B08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R7810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94837567-94882326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94870107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 366 (L366P)

Ref Sequence

ENSEMBL: ENSMUSP00000102891 (fasta)

Gene Model

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

AlphaFold

Q8BZH4

Predicted Effect

probably benign
Transcript: ENSMUST00000042402
AA Change: L357P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: L357P

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 benign
Transcript: ENSMUST00000107266
AA Change: L313P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: L313P

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 benign
Transcript: ENSMUST00000107269
AA Change: L271P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: L271P

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 benign
Transcript: ENSMUST00000107270
AA Change: L366P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: L366P

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

probably benign
Transcript: ENSMUST00000140397

SMART Domains

Protein: ENSMUSP00000122492
Gene: ENSMUSG00000038902

Domain	Start	End	E-Value	Type
low complexity region	31	38	N/A	INTRINSIC

Meta Mutation Damage Score

0.3192

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (91/92)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,677,304	Y93*	probably null	Het
Adam34	T	C	8: 43,652,008	E200G	probably benign	Het
Ankfy1	C	T	11: 72,754,455	Q787*	probably null	Het
BC003331	T	C	1: 150,392,908		probably benign	Het
Birc6	T	A	17: 74,548,820	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,985,420		probably null	Het
Cabp5	T	A	7: 13,398,338	F11I	possibly damaging	Het
Casc1	T	G	6: 145,194,586	D163A	probably benign	Het
Ccdc88a	T	C	11: 29,485,964	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,849,086	V1087A	probably benign	Het
Cct3	C	T	3: 88,321,135	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,723,733	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,256,918	E487G	probably damaging	Het
Chd5	A	G	4: 152,358,575	K278E	probably damaging	Het
Cntnap3	T	A	13: 64,793,308	H286L	possibly damaging	Het
Efr3a	G	T	15: 65,787,173		probably benign	Het
Fam208b	T	C	13: 3,575,714	K1412R	possibly damaging	Het
Fastkd2	T	A	1: 63,731,692	I69N	possibly damaging	Het
Flg2	T	C	3: 93,200,241	I11T	possibly damaging	Het
Folr2	T	C	7: 101,840,895	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786	F360S	probably damaging	Het
Galr2	T	C	11: 116,283,120	V192A	probably benign	Het
Gas6	A	T	8: 13,466,809	I563N	probably damaging	Het
Gbe1	T	C	16: 70,527,197	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,731,371	H423Y	probably damaging	Het
Gm14548	C	A	7: 3,894,205	C544F	probably damaging	Het
Gm6902	T	C	7: 23,273,818	T95A	probably benign	Het
Gpr155	G	T	2: 73,381,952	A109D	probably damaging	Het
Hsdl1	T	C	8: 119,567,972	D5G	probably damaging	Het
Hyal1	C	T	9: 107,578,429	P313S	probably damaging	Het
Igfn1	G	A	1: 135,974,789	T390M	probably damaging	Het
Irx1	C	A	13: 71,959,798	R255L	probably benign	Het
Itga2	T	A	13: 114,866,179	T592S	probably benign	Het
Kit	C	A	5: 75,609,322	S131R	probably benign	Het
Map1b	T	C	13: 99,431,882	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,389,151	E112K	probably benign	Het
Marveld3	T	C	8: 109,954,634	I210V	probably damaging	Het
Masp1	T	A	16: 23,476,318	I398L	probably benign	Het
Mmrn1	T	C	6: 60,976,325	I530T	probably benign	Het
Mtss1l	A	G	8: 110,726,201	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,160,465	S600R	probably benign	Het
Myo5a	A	G	9: 75,169,010	I836V	probably benign	Het
Naaladl1	A	G	19: 6,109,664	D375G	probably damaging	Het
Napepld	T	A	5: 21,683,265	D62V	possibly damaging	Het
Nedd9	A	C	13: 41,312,007	I719S	possibly damaging	Het
Nes	T	A	3: 87,975,616	M394K	probably benign	Het
Nlrc5	A	T	8: 94,505,144	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 107,192,575	C822*	probably null	Het
Noa1	A	C	5: 77,309,224	L278R	probably damaging	Het
Nop16	A	G	13: 54,590,076		probably benign	Het
Olfr1448	A	G	19: 12,919,865	V148A	probably benign	Het
Olfr746	A	T	14: 50,653,993	Y252F	probably benign	Het
Osbpl10	C	T	9: 115,061,894	H117Y	probably benign	Het
Oxct1	A	T	15: 4,047,576	E130D	probably benign	Het
Padi2	A	G	4: 140,949,264	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,145,664	V566M	probably benign	Het
Pdcd11	G	A	19: 47,098,220	E222K	possibly damaging	Het
Plekha2	A	G	8: 25,088,340		probably null	Het
Ppp4r3b	A	G	11: 29,188,086	I145V	probably benign	Het
Prkcd	A	G	14: 30,598,450		probably null	Het
Ptprk	T	A	10: 28,592,857	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,792,622	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,958,939	H116L	probably damaging	Het
Sdk1	A	G	5: 141,937,679	T352A	probably benign	Het
Sept9	T	A	11: 117,359,438	C529*	probably null	Het
Setx	T	A	2: 29,148,651	V1716D	probably benign	Het
Slc19a3	C	T	1: 83,019,441	V349I	probably benign	Het
Slc27a4	C	A	2: 29,805,710	R86S	probably benign	Het
Slc4a8	A	G	15: 100,798,178	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,325,622	R58G	probably damaging	Het
Sphkap	T	A	1: 83,276,300	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,949,946	S261P	unknown	Het
Tab1	A	T	15: 80,158,798	T398S	possibly damaging	Het
Tas2r131	T	A	6: 132,957,742	T35S	probably benign	Het
Tigd4	T	A	3: 84,595,003	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,616,708	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,897,311	C894S	unknown	Het
Topaz1	T	A	9: 122,749,185	S387T	probably benign	Het
Tsfm	T	C	10: 127,011,689	R178G	probably benign	Het
Ttll13	T	C	7: 80,253,127	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,625,141	K97N		Het
Ubr4	A	G	4: 139,415,083	E38G		Het
Ugt2b37	T	C	5: 87,254,259	Y171C	probably damaging	Het
Unc5b	C	A	10: 60,765,241	M935I	probably benign	Het
Usp34	T	C	11: 23,412,314	S1606P		Het
Vmn1r195	T	C	13: 22,279,074	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,425,212	M419L	probably benign	Het
Washc2	G	T	6: 116,259,059	A1164S	probably benign	Het
Wdfy3	A	T	5: 101,895,074	M1937K	probably benign	Het
Wdfy3	A	T	5: 101,951,399	L261*	probably null	Het
Wdr64	A	T	1: 175,731,526	Y285F	probably benign	Het
Wtap	A	G	17: 12,980,910	L62P	probably damaging	Het
Zfp94	C	A	7: 24,303,073	V315F	probably benign	Het
Zhx1	A	T	15: 58,048,402		probably null	Het

Other mutations in Pogz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Pogz	APN	3	94874703	unclassified	probably benign
IGL02225:Pogz	APN	3	94879016	missense	probably damaging	0.99
IGL02377:Pogz	APN	3	94879010	missense	probably damaging	1.00
IGL02468:Pogz	APN	3	94879083	missense	probably damaging	0.97
IGL02672:Pogz	APN	3	94856099	missense	probably benign	0.08
IGL03290:Pogz	APN	3	94875091	unclassified	probably benign
FR4976:Pogz	UTSW	3	94874695	unclassified	probably benign
PIT4382001:Pogz	UTSW	3	94879796	missense	probably damaging	1.00
PIT4434001:Pogz	UTSW	3	94872370	missense	probably damaging	1.00
R0326:Pogz	UTSW	3	94870113	missense	probably damaging	1.00
R0401:Pogz	UTSW	3	94877025	missense	possibly damaging	0.81
R0479:Pogz	UTSW	3	94876636	missense	possibly damaging	0.92
R0586:Pogz	UTSW	3	94879353	missense	probably damaging	1.00
R1349:Pogz	UTSW	3	94860888	missense	probably damaging	1.00
R1372:Pogz	UTSW	3	94860888	missense	probably damaging	1.00
R1670:Pogz	UTSW	3	94878849	missense	probably benign	0.21
R1780:Pogz	UTSW	3	94870126	missense	possibly damaging	0.54
R1854:Pogz	UTSW	3	94878849	missense	probably benign	0.21
R1855:Pogz	UTSW	3	94878849	missense	probably benign	0.21
R1964:Pogz	UTSW	3	94878193	missense	probably benign	0.36
R1995:Pogz	UTSW	3	94877944	missense	probably damaging	1.00
R2109:Pogz	UTSW	3	94878965	missense	probably benign
R2139:Pogz	UTSW	3	94871007	missense	possibly damaging	0.95
R4457:Pogz	UTSW	3	94856063	missense	probably benign	0.14
R4598:Pogz	UTSW	3	94880180	missense	possibly damaging	0.52
R5598:Pogz	UTSW	3	94864509	missense	probably damaging	1.00
R5999:Pogz	UTSW	3	94856117	missense	possibly damaging	0.77
R6104:Pogz	UTSW	3	94880031	missense	probably benign	0.09
R7017:Pogz	UTSW	3	94854024	missense	probably damaging	0.99
R7632:Pogz	UTSW	3	94856206	splice site	probably null
R7788:Pogz	UTSW	3	94875233	missense	probably damaging	0.99
R8396:Pogz	UTSW	3	94878750	missense	probably benign	0.00
R8681:Pogz	UTSW	3	94860923	missense	probably damaging	1.00
R8981:Pogz	UTSW	3	94878915	missense	probably damaging	0.96
R8982:Pogz	UTSW	3	94879568	missense	probably damaging	1.00
R9024:Pogz	UTSW	3	94878232	missense	probably damaging	1.00
R9056:Pogz	UTSW	3	94880219	missense	probably benign	0.02
R9316:Pogz	UTSW	3	94877348	missense	probably damaging	1.00
RF014:Pogz	UTSW	3	94878247	missense	possibly damaging	0.77
Z1088:Pogz	UTSW	3	94879076	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGAAACTGGCTGCTAGCTG -3'
(R):5'- CCAAGCCAGTTTAAGCATCTG -3'

Sequencing Primer
(F):5'- AACTGGCTGCTAGCTGAGATG -3'
(R):5'- GCATCTGCTTTTCAAGATTCCAG -3'

Posted On

2019-11-26