Mutagenetix > Incidental Mutations

Incidental Mutation 'R1670:Pogz'

187530

Institutional Source

Beutler Lab

Gene Symbol

Pogz

Ensembl Gene

ENSMUSG00000038902

Gene Name

pogo transposable element with ZNF domain

Synonyms

9530006B08Rik

MMRRC Submission

039706-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R1670 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

94837567-94882326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94878849 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 863 (T863I)

Ref Sequence

ENSEMBL: ENSMUSP00000102887 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042402
AA Change: T907I

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
AA Change: T907I

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: T863I

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
AA Change: T863I

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: T821I

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
AA Change: T821I

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: T916I

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
AA Change: T916I

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: ENSMUST00000142253

Meta Mutation Damage Score

0.1267

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,712,379	P187S	probably damaging	Het
Abcc9	A	G	6: 142,594,722	V1497A	possibly damaging	Het
Adam15	T	C	3: 89,348,510		probably benign	Het
Angel2	T	A	1: 190,942,163	S371T	probably benign	Het
Atr	T	A	9: 95,861,456	N49K	probably benign	Het
Bace2	G	A	16: 97,412,135	M228I	probably damaging	Het
Bdp1	A	C	13: 100,027,433		probably null	Het
Calr	A	T	8: 84,844,119	D302E	probably benign	Het
Camta1	T	C	4: 151,079,771	D340G	probably benign	Het
Car11	C	T	7: 45,703,525	T236I	possibly damaging	Het
Cfap69	A	T	5: 5,586,409	S275T	probably benign	Het
Cib2	G	A	9: 54,548,369	R104W	probably damaging	Het
CN725425	T	C	15: 91,245,815	S294P	possibly damaging	Het
Coro7	G	A	16: 4,628,233	S876F	possibly damaging	Het
Cspg4	G	A	9: 56,897,403	V1833M	probably damaging	Het
Dennd6b	C	A	15: 89,185,337		probably benign	Het
Dhx30	A	T	9: 110,085,273	Y979N	possibly damaging	Het
Dnah8	A	T	17: 30,725,124	I1772F	probably damaging	Het
Dync2h1	A	T	9: 6,993,942	I3976N	possibly damaging	Het
Ebi3	T	C	17: 55,954,479	I125T	probably damaging	Het
Elfn2	C	T	15: 78,672,368	A660T	probably benign	Het
F12	C	T	13: 55,421,533	C209Y	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam126a	T	A	5: 23,999,991	M1L	possibly damaging	Het
Fgfr2	T	A	7: 130,180,457	D413V	probably damaging	Het
Gdf10	T	A	14: 33,932,043	I169N	possibly damaging	Het
Gdnf	T	C	15: 7,815,649	V41A	probably benign	Het
Gm9857	A	T	3: 108,940,162		probably benign	Het
Gpatch11	A	G	17: 78,839,100	E58G	possibly damaging	Het
Gpr55	A	G	1: 85,941,415	V148A	possibly damaging	Het
Gucy1b1	A	G	3: 82,045,460	I222T	probably benign	Het
Hnf4a	T	C	2: 163,562,576	S227P	probably damaging	Het
Hsfy2	A	G	1: 56,636,389	S330P	possibly damaging	Het
Ift122	T	C	6: 115,923,883	V1054A	probably benign	Het
Il27	T	A	7: 126,589,475	E175D	probably benign	Het
Lactb2	A	T	1: 13,660,417	S12T	probably damaging	Het
Lrfn2	T	C	17: 49,096,577	V576A	probably benign	Het
Mansc4	C	G	6: 147,075,191	R309T	possibly damaging	Het
Med12l	AACAGCA	AACAGCAACAGCA	3: 59,275,958		probably benign	Het
Mrpl16	C	T	19: 11,774,595	R240*	probably null	Het
Muc3	A	G	5: 137,143,995	V70A	probably benign	Het
Ndnf	A	G	6: 65,703,070	D111G	probably benign	Het
Nek4	T	C	14: 30,982,427	F688S	probably damaging	Het
Nkx2-6	T	A	14: 69,174,677	M98K	probably benign	Het
Nup188	T	C	2: 30,340,655	S1402P	probably benign	Het
Olfr1036	T	A	2: 86,075,250	V170D	probably benign	Het
Olfr1307	C	T	2: 111,944,919	C179Y	probably damaging	Het
Olfr205	A	T	16: 59,329,244	N88K	probably benign	Het
Olfr206	T	C	16: 59,345,427	I91M	possibly damaging	Het
Olfr330	A	T	11: 58,529,411	S192T	probably damaging	Het
Olfr418	T	A	1: 173,270,900	S242T	probably damaging	Het
Olfr556	A	G	7: 102,670,402	T161A	possibly damaging	Het
Parp10	A	T	15: 76,242,070	V306E	probably benign	Het
Pcnx3	A	G	19: 5,673,315	L1284P	probably damaging	Het
Pld1	A	T	3: 28,049,240	I365F	probably benign	Het
Pnisr	A	G	4: 21,865,893	D294G	probably damaging	Het
Ptprn2	A	C	12: 116,722,172	T84P	possibly damaging	Het
Rln1	C	T	19: 29,332,068	E104K	possibly damaging	Het
Rnf38	A	G	4: 44,138,681	S271P	probably damaging	Het
Rngtt	A	G	4: 33,368,660	T398A	probably benign	Het
Rprd2	G	T	3: 95,764,803	T1096K	probably damaging	Het
Sema3e	C	T	5: 14,162,185		probably benign	Het
Sema5a	T	A	15: 32,548,799	C140S	probably damaging	Het
Shpk	A	C	11: 73,222,931	D390A	probably benign	Het
Slc22a20	C	T	19: 5,972,848		probably benign	Het
Steap2	A	G	5: 5,677,393	V314A	possibly damaging	Het
Stxbp5l	A	G	16: 37,290,927		probably null	Het
Tgm3	G	T	2: 130,041,768	E449*	probably null	Het
Tmem68	A	C	4: 3,560,627	L186V	probably damaging	Het
Ttc41	T	A	10: 86,776,252	W1130R	possibly damaging	Het
Ttpal	T	C	2: 163,615,366	F253L	possibly damaging	Het
Vmn2r99	G	T	17: 19,362,252	V40F	probably benign	Het
Xkr9	G	A	1: 13,700,943	V228M	probably damaging	Het
Zc3h7b	C	T	15: 81,777,067	A369V	probably benign	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
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
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'- CCAATCTCATTTTCCCAGGGCTCAG -3'
(R):5'- AAGTGTTCAGCCGCCTGTTCAG -3'

Sequencing Primer
(F):5'- GGACACTTTGCACAATGTCTG -3'
(R):5'- TTGCAGCACAGGGCAAAC -3'

Posted On

2014-05-09