Mutagenetix > Incidental Mutations

Incidental Mutation 'R2139:Pogz'

236026

Institutional Source

Beutler Lab

Gene Symbol

Pogz

Ensembl Gene

ENSMUSG00000038902

Gene Name

pogo transposable element with ZNF domain

Synonyms

9530006B08Rik

MMRRC Submission

040142-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R2139 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94837567-94882326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94871007 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 304 (V304A)

Ref Sequence

ENSEMBL: ENSMUSP00000102890 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042402
AA Change: V390A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: V390A

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

possibly damaging
Transcript: ENSMUST00000107266
AA Change: V346A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: V346A

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

possibly damaging
Transcript: ENSMUST00000107269
AA Change: V304A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: V304A

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

possibly damaging
Transcript: ENSMUST00000107270
AA Change: V399A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: V399A

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: ENSMUST00000125638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126235

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,304,295	F318I	probably damaging	Het
Bfsp2	T	C	9: 103,449,875	K221R	probably benign	Het
Cacna1b	A	C	2: 24,679,473	M813R	probably benign	Het
Chaf1a	T	C	17: 56,065,226	L798P	probably damaging	Het
Chd8	G	A	14: 52,236,971	T201I	probably benign	Het
Col23a1	T	C	11: 51,574,034	S436P	probably benign	Het
Cubn	T	C	2: 13,336,167	I2248V	probably benign	Het
Cyp4f39	A	G	17: 32,491,189	I440M	probably benign	Het
Dhcr24	G	T	4: 106,572,302	E191*	probably null	Het
Dlg5	T	C	14: 24,170,544	D522G	probably damaging	Het
Dnaja4	A	T	9: 54,709,222	M170L	probably benign	Het
Dopey2	T	C	16: 93,771,007	S1441P	possibly damaging	Het
Egr2	T	A	10: 67,540,872	S383T	probably damaging	Het
Elovl1	A	G	4: 118,431,106	D94G	probably damaging	Het
Erbb4	A	G	1: 68,346,629	V267A	probably damaging	Het
Esp38	T	A	17: 39,953,384	I11N	probably damaging	Het
Esrrb	T	C	12: 86,421,966		probably null	Het
Fbxo24	A	T	5: 137,613,065	S488T	probably damaging	Het
Fgfr1	T	G	8: 25,570,866	V618G	probably damaging	Het
Gak	C	T	5: 108,606,877		probably null	Het
Gm11639	C	T	11: 104,751,911	T1120I	possibly damaging	Het
Gpr61	A	T	3: 108,150,761	C195S	probably damaging	Het
Greb1l	A	C	18: 10,555,011	N1686H	probably damaging	Het
Hapln4	T	C	8: 70,088,138	F274L	probably benign	Het
Hoxc10	A	T	15: 102,967,477	Q207L	probably benign	Het
Hspa12a	A	G	19: 58,799,482	V636A	probably benign	Het
Il1f8	A	G	2: 24,154,660	N24S	probably benign	Het
Il22ra2	T	A	10: 19,632,870	F215L	probably benign	Het
Kank1	G	A	19: 25,411,753	G930D	probably benign	Het
Kif13a	T	C	13: 46,752,469	D666G	possibly damaging	Het
Krt86	A	T	15: 101,473,758	I70F	probably benign	Het
Lgi4	A	T	7: 31,063,123	I112F	probably damaging	Het
Lrrc8c	T	G	5: 105,606,692	I111S	probably damaging	Het
Ltbp2	T	C	12: 84,815,979	N600S	probably damaging	Het
Marc1	G	A	1: 184,795,435	T276I	probably benign	Het
Mbd3l2	A	T	9: 18,444,958	D193V	probably damaging	Het
Mroh5	T	A	15: 73,790,091	D417V	probably damaging	Het
Ms4a18	A	T	19: 10,997,331	V332D	possibly damaging	Het
Muc4	T	A	16: 32,761,225	I2488N	unknown	Het
Myrf	C	G	19: 10,216,467	A532P	probably damaging	Het
Nav3	T	C	10: 109,853,135	N427S	probably benign	Het
Neb	T	C	2: 52,212,588	S4315G	probably damaging	Het
Nyap2	A	G	1: 81,241,268	D335G	probably damaging	Het
Olfm4	T	C	14: 80,014,315	L225P	probably benign	Het
Olfr1199	T	A	2: 88,756,093	N194I	probably damaging	Het
Olfr283	T	C	15: 98,378,264	N282S	probably damaging	Het
Olfr419	A	T	1: 174,250,736		probably null	Het
Olfr616	A	T	7: 103,564,754	I175K	possibly damaging	Het
Pcdhac2	T	G	18: 37,146,086	Y706*	probably null	Het
Pgbd1	A	G	13: 21,423,020	S335P	probably damaging	Het
Pkhd1l1	A	C	15: 44,529,818	I1850L	possibly damaging	Het
Rap1a	T	C	3: 105,739,540	I100V	probably damaging	Het
Slc4a4	A	T	5: 89,046,264	K201M	probably damaging	Het
Slc6a1	T	C	6: 114,304,061	F8S	possibly damaging	Het
St18	T	G	1: 6,810,615	M444R	possibly damaging	Het
Syna	G	T	5: 134,559,252	S281*	probably null	Het
Tgm1	A	G	14: 55,709,543	V336A	probably damaging	Het
Tle6	G	T	10: 81,594,034	T400K	probably damaging	Het
Tmem181a	T	C	17: 6,298,206	W328R	probably damaging	Het
Trim7	T	C	11: 48,838,894	F193L	probably benign	Het
Txndc16	A	T	14: 45,172,589	M178K	probably damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn1r74	A	G	7: 11,847,316	Y181C	probably damaging	Het
Vmn2r56	T	A	7: 12,712,963	K421*	probably null	Het
Vwa7	T	G	17: 35,023,430	S503R	probably benign	Het
Washc5	G	A	15: 59,350,142	T135M	probably damaging	Het
Wdr6	T	C	9: 108,574,123	I854V	probably benign	Het
Zfp507	A	G	7: 35,793,723	C632R	probably damaging	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
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
R7788:Pogz	UTSW	3	94875233	missense	probably damaging	0.99
R7810:Pogz	UTSW	3	94870107	missense	probably benign	0.00
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'- CTGGGGCTACTGAAGGAAAC -3'
(R):5'- GGACAGCATCTCCAGCATTC -3'

Sequencing Primer
(F):5'- TTGTGAACCAGTGGCCTAGC -3'
(R):5'- GACAGCATCTCCAGCATTCTCATTTG -3'

Posted On

2014-10-01