Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:Zscan10'

38253

Institutional Source

Beutler Lab

Gene Symbol

Zscan10

Ensembl Gene

ENSMUSG00000023902

Gene Name

zinc finger and SCAN domain containing 10

Synonyms

Zscan10, Zfp206

MMRRC Submission

038606-MU

Accession Numbers

Ncbi RefSeq: NM_001033425.3; MGI:3040700

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R0401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23600856-23611019 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23605915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 115 (V115E)

Ref Sequence

ENSEMBL: ENSMUSP00000116748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095595] [ENSMUST00000115509] [ENSMUST00000117606] [ENSMUST00000118369] [ENSMUST00000120967] [ENSMUST00000122285] [ENSMUST00000123866] [ENSMUST00000129227] [ENSMUST00000138487] [ENSMUST00000148062]

AlphaFold

Q3URR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000095595
AA Change: V115E

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

SMART Domains

Protein: ENSMUSP00000093255
Gene: ENSMUSG00000023902
AA Change: V115E

Domain	Start	End	E-Value	Type
SCAN	39	145	1.28e-34	SMART
low complexity region	173	194	N/A	INTRINSIC
ZnF_C2H2	343	366	4.4e-2	SMART
ZnF_C2H2	378	400	5.59e-4	SMART
ZnF_C2H2	406	428	1.25e-1	SMART
ZnF_C2H2	434	456	2.05e-2	SMART
ZnF_C2H2	478	500	2.75e-3	SMART
low complexity region	507	521	N/A	INTRINSIC
ZnF_C2H2	524	547	1.82e-3	SMART
ZnF_C2H2	553	575	3.16e-3	SMART
ZnF_C2H2	581	603	1.95e-3	SMART
ZnF_C2H2	609	631	4.17e-3	SMART
ZnF_C2H2	637	659	1.56e-2	SMART
ZnF_C2H2	665	687	2.4e-3	SMART
ZnF_C2H2	693	715	1.98e-4	SMART
ZnF_C2H2	726	748	1.58e-3	SMART
ZnF_C2H2	754	776	6.42e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115509
AA Change: V115E

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

SMART Domains

Protein: ENSMUSP00000111171
Gene: ENSMUSG00000023902
AA Change: V115E

Domain	Start	End	E-Value	Type
SCAN	39	148	3.37e-34	SMART
ZnF_C2H2	233	256	4.4e-2	SMART
ZnF_C2H2	268	290	5.59e-4	SMART
ZnF_C2H2	296	318	1.25e-1	SMART
ZnF_C2H2	324	346	2.05e-2	SMART
ZnF_C2H2	368	390	2.75e-3	SMART
low complexity region	397	411	N/A	INTRINSIC
ZnF_C2H2	414	437	1.82e-3	SMART
ZnF_C2H2	443	465	3.16e-3	SMART
ZnF_C2H2	471	493	1.95e-3	SMART
ZnF_C2H2	499	521	4.17e-3	SMART
ZnF_C2H2	527	549	1.56e-2	SMART
ZnF_C2H2	555	577	2.4e-3	SMART
ZnF_C2H2	583	605	1.98e-4	SMART
ZnF_C2H2	616	638	1.58e-3	SMART
ZnF_C2H2	644	666	6.42e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117606
AA Change: V115E

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

SMART Domains

Protein: ENSMUSP00000112460
Gene: ENSMUSG00000023902
AA Change: V115E

Domain	Start	End	E-Value	Type
SCAN	39	147	1.73e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118369
AA Change: V115E

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

SMART Domains

Protein: ENSMUSP00000113757
Gene: ENSMUSG00000023902
AA Change: V115E

Domain	Start	End	E-Value	Type
SCAN	39	152	1.59e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120967
AA Change: V115E

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

SMART Domains

Protein: ENSMUSP00000113386
Gene: ENSMUSG00000023902
AA Change: V115E

Domain	Start	End	E-Value	Type
SCAN	39	145	1.28e-34	SMART
low complexity region	173	194	N/A	INTRINSIC
ZnF_C2H2	346	368	5.59e-4	SMART
ZnF_C2H2	374	396	1.25e-1	SMART
ZnF_C2H2	402	424	2.05e-2	SMART
ZnF_C2H2	446	468	2.75e-3	SMART
low complexity region	475	489	N/A	INTRINSIC
ZnF_C2H2	492	515	1.82e-3	SMART
ZnF_C2H2	521	543	3.16e-3	SMART
ZnF_C2H2	549	571	1.95e-3	SMART
ZnF_C2H2	577	599	4.17e-3	SMART
ZnF_C2H2	605	627	1.56e-2	SMART
ZnF_C2H2	633	655	2.4e-3	SMART
ZnF_C2H2	661	683	1.98e-4	SMART
ZnF_C2H2	694	716	1.58e-3	SMART
ZnF_C2H2	722	744	6.42e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122285
AA Change: V115E

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

SMART Domains

Protein: ENSMUSP00000112559
Gene: ENSMUSG00000023902
AA Change: V115E

Domain	Start	End	E-Value	Type
SCAN	39	152	1.59e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123866
AA Change: V115E

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

SMART Domains

Protein: ENSMUSP00000116748
Gene: ENSMUSG00000023902
AA Change: V115E

Domain	Start	End	E-Value	Type
SCAN	39	148	2.38e-34	SMART
ZnF_C2H2	267	290	4.4e-2	SMART
ZnF_C2H2	302	324	5.59e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125912

Predicted Effect

probably benign
Transcript: ENSMUST00000129227

SMART Domains

Protein: ENSMUSP00000118987
Gene: ENSMUSG00000023902

Domain	Start	End	E-Value	Type
ZnF_C2H2	142	164	5.59e-4	SMART
ZnF_C2H2	170	192	1.25e-1	SMART
ZnF_C2H2	198	220	2.05e-2	SMART
ZnF_C2H2	242	264	2.75e-3	SMART
low complexity region	271	285	N/A	INTRINSIC
ZnF_C2H2	288	311	1.82e-3	SMART
ZnF_C2H2	317	339	3.16e-3	SMART
ZnF_C2H2	345	367	1.95e-3	SMART
ZnF_C2H2	373	395	4.17e-3	SMART
ZnF_C2H2	401	423	1.56e-2	SMART
ZnF_C2H2	429	451	2.4e-3	SMART
ZnF_C2H2	457	479	1.98e-4	SMART
ZnF_C2H2	490	512	1.58e-3	SMART
ZnF_C2H2	518	540	6.42e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133749

Predicted Effect

probably damaging
Transcript: ENSMUST00000138487
AA Change: V115E

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

SMART Domains

Protein: ENSMUSP00000114341
Gene: ENSMUSG00000023902
AA Change: V115E

Domain	Start	End	E-Value	Type
SCAN	39	148	3.37e-34	SMART
ZnF_C2H2	236	258	5.59e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148062

SMART Domains

Protein: ENSMUSP00000120876
Gene: ENSMUSG00000023902

Domain	Start	End	E-Value	Type
Pfam:SCAN	37	88	7.5e-20	PFAM
low complexity region	128	149	N/A	INTRINSIC
ZnF_C2H2	301	323	5.59e-4	SMART
ZnF_C2H2	329	351	1.25e-1	SMART
ZnF_C2H2	357	379	2.05e-2	SMART
ZnF_C2H2	401	423	2.75e-3	SMART
low complexity region	430	444	N/A	INTRINSIC
ZnF_C2H2	447	470	1.82e-3	SMART
ZnF_C2H2	476	498	3.16e-3	SMART
ZnF_C2H2	504	526	1.95e-3	SMART
ZnF_C2H2	532	554	4.17e-3	SMART
ZnF_C2H2	560	582	1.56e-2	SMART
ZnF_C2H2	588	610	2.4e-3	SMART
ZnF_C2H2	616	638	1.98e-4	SMART
ZnF_C2H2	649	671	1.58e-3	SMART
ZnF_C2H2	677	699	6.42e-4	SMART

Meta Mutation Damage Score

0.8836

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit a pleiotropic phenotype including reduced weight, mild hypoplasia in the spleen, heart and long bones, eye malformations including microphthalmia, altered platelet counts, an activated immune status, and behavioral alterations. [provided by MGI curators]

Allele List at MGI

All alleles(357) : Targeted(5) Gene trapped(352)

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,070,306 (GRCm38)	H1752L	possibly damaging	Het
8030462N17Rik	C	A	18: 77,673,962 (GRCm38)	S218I	probably damaging	Het
A530099J19Rik	A	T	13: 19,729,494 (GRCm38)		noncoding transcript	Het
Abcc5	T	C	16: 20,376,558 (GRCm38)	K730E	probably benign	Het
Ahnak	A	G	19: 9,015,116 (GRCm38)	D4588G	probably benign	Het
AI467606	G	A	7: 127,092,436 (GRCm38)	R61H	probably damaging	Het
Apoa4	T	A	9: 46,243,058 (GRCm38)	V319E	probably damaging	Het
Atad5	T	A	11: 80,120,699 (GRCm38)	D1297E	probably benign	Het
BC005624	G	A	2: 30,980,009 (GRCm38)	T62I	probably benign	Het
Bcl6	T	C	16: 23,972,594 (GRCm38)	K337E	probably damaging	Het
Cad	T	A	5: 31,073,986 (GRCm38)		probably benign	Het
Ccdc73	T	C	2: 104,991,289 (GRCm38)	S528P	probably benign	Het
Ccng2	T	G	5: 93,273,413 (GRCm38)	C261G	possibly damaging	Het
Cdh11	A	T	8: 102,674,006 (GRCm38)	I110N	probably damaging	Het
Cgnl1	A	G	9: 71,705,239 (GRCm38)	V767A	probably damaging	Het
Cit	A	G	5: 115,985,479 (GRCm38)	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,181,300 (GRCm38)	Q42*	probably null	Het
Clip1	A	G	5: 123,653,789 (GRCm38)	V106A	probably damaging	Het
Crb1	T	C	1: 139,198,791 (GRCm38)		probably benign	Het
Cts6	T	C	13: 61,198,339 (GRCm38)		probably benign	Het
Cul9	T	C	17: 46,541,704 (GRCm38)	E244G	probably damaging	Het
Ddx55	A	T	5: 124,567,951 (GRCm38)	I480F	probably damaging	Het
Dixdc1	A	G	9: 50,693,674 (GRCm38)	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,031 (GRCm38)	Y1235*	probably null	Het
Dsg2	G	T	18: 20,592,508 (GRCm38)		probably benign	Het
E2f5	T	C	3: 14,579,025 (GRCm38)		probably null	Het
Epc2	A	G	2: 49,528,974 (GRCm38)	T265A	probably damaging	Het
Etaa1	T	G	11: 17,947,514 (GRCm38)	D201A	probably damaging	Het
Fancd2	T	C	6: 113,548,343 (GRCm38)	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,444,624 (GRCm38)	A1098V	probably benign	Het
Gm17689	G	T	9: 36,582,628 (GRCm38)	A3E	unknown	Het
Gm7030	C	T	17: 36,128,705 (GRCm38)	V128M	probably damaging	Het
Gpd2	G	A	2: 57,340,093 (GRCm38)	V286I	possibly damaging	Het
Herc2	A	C	7: 56,157,732 (GRCm38)	E2523A	probably damaging	Het
Jmjd1c	G	A	10: 67,220,382 (GRCm38)	R527H	probably damaging	Het
Kif12	G	A	4: 63,169,525 (GRCm38)		probably benign	Het
Lrp2	A	T	2: 69,479,148 (GRCm38)	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,546,989 (GRCm38)	G235R	probably benign	Het
Mapk8	T	C	14: 33,382,208 (GRCm38)	E417G	probably benign	Het
Mapk8ip3	G	A	17: 24,909,171 (GRCm38)		probably benign	Het
Mettl1	A	G	10: 127,045,077 (GRCm38)	T203A	probably benign	Het
Mettl9	T	C	7: 121,076,313 (GRCm38)	V312A	probably damaging	Het
Mex3d	A	G	10: 80,386,894 (GRCm38)	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790 (GRCm38)	S225P	probably damaging	Het
Mrvi1	G	A	7: 110,876,897 (GRCm38)	P757S	probably benign	Het
Neb	G	A	2: 52,188,677 (GRCm38)		probably benign	Het
Ninj2	C	T	6: 120,198,051 (GRCm38)	A51V	possibly damaging	Het
Nle1	A	G	11: 82,905,379 (GRCm38)		probably benign	Het
Nol9	T	C	4: 152,052,605 (GRCm38)	Y532H	probably benign	Het
Nr2c1	T	A	10: 94,171,158 (GRCm38)	V286E	probably benign	Het
Olfr1183	T	G	2: 88,461,925 (GRCm38)	L195R	probably damaging	Het
Olfr1272	A	T	2: 90,282,404 (GRCm38)	M57K	probably damaging	Het
Olfr308	T	C	7: 86,321,292 (GRCm38)	Y220C	probably benign	Het
Olfr481	T	A	7: 108,080,872 (GRCm38)	I26N	possibly damaging	Het
Olfr670	T	A	7: 104,959,943 (GRCm38)	H263L	probably damaging	Het
Olfr816	A	G	10: 129,911,916 (GRCm38)	Y121H	probably benign	Het
Olfr827	A	G	10: 130,210,620 (GRCm38)	L170P	probably damaging	Het
Ovch2	A	T	7: 107,801,136 (GRCm38)	V15D	probably damaging	Het
Pclo	T	G	5: 14,681,734 (GRCm38)	S3417A	unknown	Het
Pet2	C	A	X: 89,405,209 (GRCm38)	R438L	probably benign	Het
Pex1	T	A	5: 3,633,759 (GRCm38)	M1085K	probably damaging	Het
Plscr2	T	C	9: 92,282,135 (GRCm38)	S6P	probably benign	Het
Pogz	C	T	3: 94,877,025 (GRCm38)	P722S	possibly damaging	Het
Pom121l2	A	T	13: 21,982,225 (GRCm38)	D222V	probably benign	Het
Prpf40a	T	C	2: 53,159,313 (GRCm38)	Y179C	probably damaging	Het
R3hdm2	A	G	10: 127,458,173 (GRCm38)	I179V	possibly damaging	Het
Ranbp9	A	C	13: 43,422,658 (GRCm38)	V355G	probably damaging	Het
Rims2	T	C	15: 39,509,632 (GRCm38)		probably benign	Het
Ryr2	A	T	13: 11,705,684 (GRCm38)	S2693T	probably benign	Het
Sbno1	G	A	5: 124,410,285 (GRCm38)	T111I	probably damaging	Het
Sdk1	A	C	5: 142,046,161 (GRCm38)	N997T	possibly damaging	Het
Setx	G	T	2: 29,166,289 (GRCm38)	E39*	probably null	Het
Skint7	T	A	4: 111,980,362 (GRCm38)	N112K	probably damaging	Het
Slc35e1	T	C	8: 72,492,571 (GRCm38)		probably benign	Het
Slc4a10	A	T	2: 62,190,848 (GRCm38)	D80V	probably benign	Het
Susd2	C	A	10: 75,638,603 (GRCm38)		probably benign	Het
Tcam1	G	A	11: 106,284,078 (GRCm38)	E120K	probably benign	Het
Tcf3	G	T	10: 80,421,158 (GRCm38)	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,826,365 (GRCm38)	Y116H	probably benign	Het
Tex26	C	A	5: 149,460,858 (GRCm38)	D164E	probably benign	Het
Thoc5	G	A	11: 4,902,213 (GRCm38)		probably benign	Het
Tiparp	A	G	3: 65,531,436 (GRCm38)	R58G	probably benign	Het
Trim66	A	T	7: 109,475,264 (GRCm38)	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,336,490 (GRCm38)	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,978,711 (GRCm38)	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,279,019 (GRCm38)	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,064,145 (GRCm38)	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,921,311 (GRCm38)	K346E	probably benign	Het
Zfhx4	T	A	3: 5,401,161 (GRCm38)	S2126R	possibly damaging	Het
Zfp608	C	T	18: 54,898,994 (GRCm38)	G625R	probably benign	Het
Zkscan5	A	G	5: 145,212,575 (GRCm38)	D234G	probably damaging	Het

Other mutations in Zscan10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Zscan10	APN	17	23,609,461 (GRCm38)	missense	probably damaging	0.98
IGL01353:Zscan10	APN	17	23,609,600 (GRCm38)	missense	probably damaging	1.00
IGL02327:Zscan10	APN	17	23,607,572 (GRCm38)	splice site	probably benign
IGL02556:Zscan10	APN	17	23,608,145 (GRCm38)	missense	possibly damaging	0.90
FR4737:Zscan10	UTSW	17	23,609,445 (GRCm38)	small deletion	probably benign
P0043:Zscan10	UTSW	17	23,609,620 (GRCm38)	nonsense	probably null
R0345:Zscan10	UTSW	17	23,610,082 (GRCm38)	missense	probably damaging	1.00
R0699:Zscan10	UTSW	17	23,608,118 (GRCm38)	missense	probably damaging	1.00
R0838:Zscan10	UTSW	17	23,610,034 (GRCm38)	missense	possibly damaging	0.83
R0919:Zscan10	UTSW	17	23,610,007 (GRCm38)	missense	probably damaging	0.99
R1940:Zscan10	UTSW	17	23,609,852 (GRCm38)	missense	probably damaging	1.00
R4647:Zscan10	UTSW	17	23,610,340 (GRCm38)	missense	probably benign
R4753:Zscan10	UTSW	17	23,607,234 (GRCm38)	missense	probably damaging	0.99
R4971:Zscan10	UTSW	17	23,607,173 (GRCm38)	missense	possibly damaging	0.67
R5110:Zscan10	UTSW	17	23,609,632 (GRCm38)	missense	probably damaging	1.00
R5410:Zscan10	UTSW	17	23,610,421 (GRCm38)	missense	probably damaging	1.00
R5516:Zscan10	UTSW	17	23,609,359 (GRCm38)	missense	possibly damaging	0.66
R5871:Zscan10	UTSW	17	23,607,267 (GRCm38)	intron	probably benign
R6109:Zscan10	UTSW	17	23,607,129 (GRCm38)	missense	probably damaging	0.98
R6626:Zscan10	UTSW	17	23,605,857 (GRCm38)	missense	probably damaging	1.00
R6750:Zscan10	UTSW	17	23,607,190 (GRCm38)	missense	possibly damaging	0.49
R6846:Zscan10	UTSW	17	23,605,607 (GRCm38)	missense	probably damaging	0.97
R7184:Zscan10	UTSW	17	23,607,029 (GRCm38)	splice site	probably null
R7223:Zscan10	UTSW	17	23,609,482 (GRCm38)	missense	probably benign	0.00
R7436:Zscan10	UTSW	17	23,610,005 (GRCm38)	missense	possibly damaging	0.52
R8224:Zscan10	UTSW	17	23,609,392 (GRCm38)	missense	probably benign
R8366:Zscan10	UTSW	17	23,609,978 (GRCm38)	missense	probably damaging	1.00
R8787:Zscan10	UTSW	17	23,610,037 (GRCm38)	missense	probably benign
R8918:Zscan10	UTSW	17	23,607,142 (GRCm38)	missense	probably benign	0.24
R8924:Zscan10	UTSW	17	23,605,606 (GRCm38)	missense	possibly damaging	0.66
R9266:Zscan10	UTSW	17	23,609,411 (GRCm38)	missense	possibly damaging	0.55
R9454:Zscan10	UTSW	17	23,607,645 (GRCm38)	critical splice donor site	probably null
R9786:Zscan10	UTSW	17	23,609,356 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCCCACCAGCTTTTCAGATG -3'
(R):5'- CTGGCTCTCTGTATAAAGCGCCAC -3'

Sequencing Primer
(F):5'- TCAGATGCTTCCAGTATCAGG -3'
(R):5'- GAAAGGATCAACTCTAGCTATGCTC -3'

Posted On

2013-05-23