Mutagenetix > Incidental Mutation

Incidental Mutation 'R1855:Pogz'

206010

Institutional Source

Beutler Lab

Gene Symbol

Pogz

Ensembl Gene

ENSMUSG00000038902

Gene Name

pogo transposable element with ZNF domain

Synonyms

9530006B08Rik

MMRRC Submission

039879-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R1855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94744878-94789637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94786160 bp (GRCm39)

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]

AlphaFold

Q8BZH4

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: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (72/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,818,195 (GRCm39)	L285Q	probably damaging	Het
Acaca	T	C	11: 84,262,380 (GRCm39)	L1994P	probably damaging	Het
Adamts9	A	G	6: 92,878,350 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,385 (GRCm39)	E574G	probably benign	Het
Ankrd1	T	C	19: 36,096,635 (GRCm39)	K64R	probably damaging	Het
Arhgap23	T	C	11: 97,339,523 (GRCm39)	I163T	probably damaging	Het
Ascc3	A	T	10: 50,494,018 (GRCm39)	Q151L	probably benign	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
C1s1	A	C	6: 124,511,315 (GRCm39)		probably null	Het
Ccdc150	T	C	1: 54,407,069 (GRCm39)		probably benign	Het
Cdhr3	A	T	12: 33,110,351 (GRCm39)	I311N	probably damaging	Het
Chad	T	A	11: 94,456,303 (GRCm39)	L127H	probably damaging	Het
Clasp1	G	A	1: 118,436,624 (GRCm39)	A303T	probably damaging	Het
Clptm1	A	G	7: 19,372,134 (GRCm39)	V234A	probably benign	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Csnk1a1	T	A	18: 61,708,498 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,378,412 (GRCm39)	I1475L	probably benign	Het
Dnah5	T	C	15: 28,411,815 (GRCm39)	V3728A	possibly damaging	Het
Dock9	C	A	14: 121,877,571 (GRCm39)	V391F	probably damaging	Het
Ehmt2	A	T	17: 35,129,752 (GRCm39)	I949F	probably damaging	Het
Eif4g1	C	A	16: 20,505,911 (GRCm39)	T1025K	possibly damaging	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Esrrg	A	T	1: 187,943,295 (GRCm39)	M423L	probably damaging	Het
Etnppl	A	T	3: 130,414,371 (GRCm39)	I89F	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbln7	A	G	2: 128,735,755 (GRCm39)	T248A	possibly damaging	Het
Galnt9	C	T	5: 110,763,390 (GRCm39)	T465M	probably damaging	Het
Grcc10	A	G	6: 124,717,541 (GRCm39)	V57A	probably benign	Het
Herc1	T	A	9: 66,298,708 (GRCm39)	M614K	possibly damaging	Het
Itch	C	T	2: 155,014,374 (GRCm39)		probably benign	Het
Kdm6b	C	A	11: 69,298,112 (GRCm39)	A167S	probably damaging	Het
Kidins220	C	T	12: 25,106,590 (GRCm39)	R1348C	probably damaging	Het
Kif17	T	C	4: 138,015,582 (GRCm39)	L577P	probably benign	Het
Krt25	A	T	11: 99,209,141 (GRCm39)	L258Q	probably damaging	Het
Marchf10	T	C	11: 105,281,218 (GRCm39)	T356A	probably benign	Het
Mical2	G	A	7: 111,944,489 (GRCm39)	A940T	probably benign	Het
Mrpl4	A	G	9: 20,914,667 (GRCm39)	E81G	possibly damaging	Het
Mtcl1	A	G	17: 66,686,509 (GRCm39)	V447A	probably benign	Het
Mtor	C	A	4: 148,637,546 (GRCm39)	N2502K	probably benign	Het
Notch4	G	A	17: 34,799,936 (GRCm39)	D966N	probably benign	Het
Oip5	C	A	2: 119,442,271 (GRCm39)	K214N	probably benign	Het
Or8a1b	A	T	9: 37,623,266 (GRCm39)	F103Y	possibly damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pak5	A	T	2: 135,929,429 (GRCm39)	S585T	probably benign	Het
Pard3	T	A	8: 128,174,293 (GRCm39)		probably null	Het
Pcnx2	A	T	8: 126,534,735 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,492,556 (GRCm39)	Y939C	possibly damaging	Het
Pde1a	A	G	2: 79,728,408 (GRCm39)		probably null	Het
Pde9a	C	T	17: 31,674,094 (GRCm39)	P60S	probably damaging	Het
Pikfyve	C	A	1: 65,297,957 (GRCm39)	T1562K	probably benign	Het
Plekhg6	A	T	6: 125,352,802 (GRCm39)	M115K	probably damaging	Het
Ppp1r3a	A	T	6: 14,754,993 (GRCm39)	W85R	probably damaging	Het
Rnf123	C	A	9: 107,938,990 (GRCm39)	R826L	probably damaging	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc22a2	A	G	17: 12,805,699 (GRCm39)	D150G	probably damaging	Het
Snap47	C	T	11: 59,319,159 (GRCm39)		probably benign	Het
Spata22	A	G	11: 73,231,385 (GRCm39)	D213G	probably benign	Het
St6galnac2	T	A	11: 116,581,141 (GRCm39)	R60S	probably benign	Het
Stk32c	A	G	7: 138,701,363 (GRCm39)	F263S	probably damaging	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tex2	T	C	11: 106,437,702 (GRCm39)	E158G	possibly damaging	Het
Tiam2	C	T	17: 3,465,410 (GRCm39)	R380C	probably damaging	Het
Trim25	C	T	11: 88,906,407 (GRCm39)	T410I	probably benign	Het
Usp18	T	A	6: 121,239,076 (GRCm39)	C212S	probably benign	Het
Vmn1r2	A	G	4: 3,172,588 (GRCm39)	Y169C	probably damaging	Het
Wdr33	A	T	18: 32,039,909 (GRCm39)		probably benign	Het
Xpr1	A	G	1: 155,159,002 (GRCm39)	Y597H	probably benign	Het
Yy1	CGGG	CGGGGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zfp54	T	A	17: 21,654,404 (GRCm39)	Y299*	probably null	Het
Zfp566	T	G	7: 29,777,927 (GRCm39)	S85R	probably benign	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
R0586:Pogz	UTSW	3	94,786,664 (GRCm39)	missense	probably damaging	1.00
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
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'- AGTGTTCGACTGGAGCATG -3'
(R):5'- TTTCGAAAGTGTTCAGCCGC -3'

Sequencing Primer
(F):5'- GGAGCATGAAGAATACATATCTTCC -3'
(R):5'- CCTGTTCAGTGTTGCAGCACAG -3'

Posted On

2014-06-23