Mutagenetix > Incidental Mutation

Incidental Mutation 'R1372:Pogz'

157353

Institutional Source

Beutler Lab

Gene Symbol

Pogz

Ensembl Gene

ENSMUSG00000038902

Gene Name

pogo transposable element with ZNF domain

Synonyms

9530006B08Rik

MMRRC Submission

039436-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R1372 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94837567-94882326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94860888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 126 (L126M)

Ref Sequence

ENSEMBL: ENSMUSP00000037523 (fasta)

Gene Model

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

AlphaFold

Q8BZH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000042402
AA Change: L126M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: L126M

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

noncoding transcript
Transcript: ENSMUST00000107265

Predicted Effect

probably damaging
Transcript: ENSMUST00000107266
AA Change: L73M

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

SMART Domains

Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: L73M

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

SMART Domains

Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902

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: L126M

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

SMART Domains

Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: L126M

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: ENSMUST00000126235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132544

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

0.0772

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.7%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	A	8: 116,971,957	Q137L	possibly damaging	Het
Abca12	A	G	1: 71,294,857	I1162T	probably damaging	Het
Adcy2	T	A	13: 68,668,533	N778I	probably damaging	Het
Adgre5	G	A	8: 83,728,320	P248S	probably damaging	Het
Akap13	G	A	7: 75,609,592	G655S	possibly damaging	Het
Ankrd28	A	T	14: 31,745,261	M248K	probably benign	Het
Asxl3	T	G	18: 22,410,009	S20A	probably benign	Het
Atf7ip2	G	A	16: 10,234,331	V225I	probably damaging	Het
Car10	A	T	11: 93,578,699	T167S	probably benign	Het
Cbx7	C	T	15: 79,918,873	G160R	probably damaging	Het
Ccdc151	C	T	9: 21,993,620	R290H	probably damaging	Het
Cd209d	C	A	8: 3,878,515		probably benign	Het
Cdca4	G	A	12: 112,821,917	Q64*	probably null	Het
Cela2a	C	T	4: 141,819,094	G178D	probably damaging	Het
Cntnap5b	G	A	1: 100,164,088	D499N	probably benign	Het
Cox7a2	G	A	9: 79,758,537	R21*	probably null	Het
Crmp1	G	A	5: 37,288,811	G604R	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Cxcr1	T	C	1: 74,192,002	D287G	probably benign	Het
Cyp4a12b	T	C	4: 115,432,949	I233T	probably benign	Het
Dlg1	T	C	16: 31,812,820	I208T	probably damaging	Het
Dsg4	C	A	18: 20,449,676		probably null	Het
Epha3	A	G	16: 63,611,053	I495T	possibly damaging	Het
Gm4778	A	G	3: 94,266,128	T148A	possibly damaging	Het
Hmcn1	A	T	1: 150,680,715	M2440K	probably benign	Het
Klb	G	C	5: 65,348,746	R112P	possibly damaging	Het
Leo1	T	C	9: 75,449,469	V377A	possibly damaging	Het
Lsg1	A	G	16: 30,564,654	F583L	possibly damaging	Het
Mphosph9	A	T	5: 124,283,745		probably null	Het
Mpp3	A	G	11: 102,000,575	V579A	probably damaging	Het
Oca2	T	A	7: 56,535,968	M814K	probably benign	Het
Pdgfra	A	G	5: 75,189,263	E936G	probably damaging	Het
Pkd1	T	C	17: 24,575,266	C1976R	probably damaging	Het
Plekhg5	G	A	4: 152,104,731	R243H	probably damaging	Het
Rbm15	G	T	3: 107,332,630	R151S	possibly damaging	Het
Rec8	T	C	14: 55,618,974	Y68H	probably damaging	Het
Rhcg	A	T	7: 79,599,374	D366E	probably benign	Het
Ryr3	T	A	2: 112,834,201	S1582C	probably damaging	Het
Sh3pxd2a	A	T	19: 47,267,721	W853R	probably damaging	Het
Tnxb	T	C	17: 34,710,293	V2770A	possibly damaging	Het
Vmn2r63	A	G	7: 42,929,218	F84L	possibly 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
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
R7810:Pogz	UTSW	3	94870107	missense	probably benign	0.00
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'- TGCCGTAAGCTGAGGTGAGTAGTAG -3'
(R):5'- TAGCCATGATGCTATGCTGGGCAC -3'

Sequencing Primer
(F):5'- GATATCTGAGACACTGTTTCTTAGC -3'
(R):5'- ATGCTGGGCACTTCATAGGC -3'

Posted On

2014-02-18