Mutagenetix > Incidental Mutation

Incidental Mutation 'R6750:Zscan10'

530738

Institutional Source

Beutler Lab

Gene Symbol

Zscan10

Ensembl Gene

ENSMUSG00000023902

Gene Name

zinc finger and SCAN domain containing 10

Synonyms

Zscan10, Zfp206

MMRRC Submission

044867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R6750 (G1)

Quality Score

197.009

Status

Validated

Chromosome

Chromosomal Location

23819830-23829993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23826164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 109 (S109T)

Ref Sequence

ENSEMBL: ENSMUSP00000120876 (fasta)

Gene Model

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

AlphaFold

Q3URR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095595
AA Change: S154T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093255
Gene: ENSMUSG00000023902
AA Change: S154T

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 benign
Transcript: ENSMUST00000115509

SMART Domains

Protein: ENSMUSP00000111171
Gene: ENSMUSG00000023902

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 benign
Transcript: ENSMUST00000117606

SMART Domains

Protein: ENSMUSP00000112460
Gene: ENSMUSG00000023902

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118369

SMART Domains

Protein: ENSMUSP00000113757
Gene: ENSMUSG00000023902

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120967
AA Change: S154T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113386
Gene: ENSMUSG00000023902
AA Change: S154T

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 benign
Transcript: ENSMUST00000122285

SMART Domains

Protein: ENSMUSP00000112559
Gene: ENSMUSG00000023902

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123866

SMART Domains

Protein: ENSMUSP00000116748
Gene: ENSMUSG00000023902

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

possibly damaging
Transcript: ENSMUST00000148062
AA Change: S109T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120876
Gene: ENSMUSG00000023902
AA Change: S109T

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

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

probably benign
Transcript: ENSMUST00000138487

SMART Domains

Protein: ENSMUSP00000114341
Gene: ENSMUSG00000023902

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133749

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	T	2: 120,973,130 (GRCm39)	L62F	probably damaging	Het
Akap13	C	T	7: 75,389,206 (GRCm39)	P2375S	probably benign	Het
Apob	T	A	12: 8,047,853 (GRCm39)	L931Q	probably damaging	Het
Arcn1	A	G	9: 44,661,691 (GRCm39)	V391A	possibly damaging	Het
Ccdc162	A	T	10: 41,437,222 (GRCm39)	I1729N	possibly damaging	Het
Cd24a	T	C	10: 43,458,721 (GRCm39)	L86P	unknown	Het
Cdcp3	T	A	7: 130,889,974 (GRCm39)		probably benign	Het
Churc1	C	A	12: 76,822,405 (GRCm39)	H71Q	probably damaging	Het
Clcn3	A	G	8: 61,367,809 (GRCm39)	L780P	possibly damaging	Het
Cldn17	C	T	16: 88,303,195 (GRCm39)	G178E	possibly damaging	Het
Cmah	A	G	13: 24,648,235 (GRCm39)	Y345C	probably damaging	Het
Cntnap5b	C	T	1: 100,202,224 (GRCm39)	S357L	probably damaging	Het
Col6a6	A	G	9: 105,660,879 (GRCm39)	I410T	probably damaging	Het
Crmp1	T	C	5: 37,422,666 (GRCm39)		probably null	Het
Csmd2	A	C	4: 128,091,018 (GRCm39)	N186H	possibly damaging	Het
Cyp1a1	A	T	9: 57,607,539 (GRCm39)	M56L	probably benign	Het
D2hgdh	G	C	1: 93,754,129 (GRCm39)	R56P	probably benign	Het
Dapk2	A	G	9: 66,128,034 (GRCm39)	E104G	probably damaging	Het
Dld	T	C	12: 31,382,213 (GRCm39)	N498S	probably benign	Het
Dyrk4	G	T	6: 126,875,918 (GRCm39)	Q106K	probably benign	Het
Eif2b4	T	C	5: 31,347,304 (GRCm39)	I333V	probably damaging	Het
F5	A	G	1: 164,021,076 (GRCm39)	T1184A	possibly damaging	Het
Fbxl6	C	T	15: 76,422,612 (GRCm39)	G102D	probably damaging	Het
Foxa1	C	T	12: 57,589,396 (GRCm39)	G275R	probably benign	Het
Fryl	A	G	5: 73,179,575 (GRCm39)	I2944T	probably damaging	Het
Gna15	T	C	10: 81,350,117 (GRCm39)	D95G	probably benign	Het
Greb1	T	A	12: 16,738,584 (GRCm39)	M1460L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,747,195 (GRCm39)	I444T	probably damaging	Het
Ifngr1	T	A	10: 19,485,099 (GRCm39)	M366K	probably benign	Het
Krt27	C	T	11: 99,239,806 (GRCm39)	E253K	probably damaging	Het
Mical2	C	T	7: 111,981,046 (GRCm39)	T406I	probably damaging	Het
Mocs2	T	G	13: 114,962,784 (GRCm39)	D156E	probably damaging	Het
Mprip	A	T	11: 59,586,957 (GRCm39)	K43N	probably damaging	Het
Myo5b	A	T	18: 74,750,106 (GRCm39)	T190S	possibly damaging	Het
Naa25	C	T	5: 121,546,372 (GRCm39)	T86M	probably damaging	Het
Ncam1	T	C	9: 49,478,639 (GRCm39)	D163G	probably damaging	Het
Nlrp4f	A	T	13: 65,329,468 (GRCm39)	Y908*	probably null	Het
Nlrp9b	T	A	7: 19,757,159 (GRCm39)	L132*	probably null	Het
Nrg1	A	C	8: 32,308,124 (GRCm39)	S679A	probably damaging	Het
Or1j1	C	A	2: 36,702,954 (GRCm39)	R50M	possibly damaging	Het
Or52p1	C	T	7: 104,267,320 (GRCm39)	R145C	probably damaging	Het
Paqr9	A	T	9: 95,443,050 (GRCm39)	T347S	probably damaging	Het
Pcdhb21	T	C	18: 37,647,501 (GRCm39)	L210P	probably damaging	Het
Pdzd7	T	G	19: 45,016,187 (GRCm39)	D978A	probably benign	Het
Phf8-ps	A	T	17: 33,285,372 (GRCm39)	S477T	possibly damaging	Het
Pkd1l1	A	T	11: 8,923,217 (GRCm39)	S17T	unknown	Het
Plcz1	T	C	6: 139,974,164 (GRCm39)	K93E	possibly damaging	Het
Pom121l2	G	C	13: 22,166,107 (GRCm39)	R126P	probably damaging	Het
Prkg1	C	T	19: 31,741,961 (GRCm39)	E88K	probably benign	Het
Psme4	A	T	11: 30,803,203 (GRCm39)	D15V	probably damaging	Het
Ptprf	A	G	4: 118,088,928 (GRCm39)	V625A	probably benign	Het
Rab27a	G	A	9: 72,992,290 (GRCm39)	S106N	probably damaging	Het
Rasa4	A	G	5: 136,129,802 (GRCm39)	T261A	probably benign	Het
Sardh	T	C	2: 27,118,269 (GRCm39)	D487G	probably benign	Het
Sec16a	A	G	2: 26,330,030 (GRCm39)	Y662H	probably benign	Het
Sema3d	T	A	5: 12,635,067 (GRCm39)	L711*	probably null	Het
Septin14	T	A	5: 129,773,181 (GRCm39)	Y152F	probably damaging	Het
Smc5	A	G	19: 23,220,004 (GRCm39)	L411P	probably damaging	Het
Spata31e5	C	A	1: 28,816,495 (GRCm39)	E512D	probably damaging	Het
Spg7	T	A	8: 123,800,650 (GRCm39)	V39E	probably damaging	Het
Tas2r117	A	G	6: 132,779,817 (GRCm39)		probably benign	Het
Tle1	A	T	4: 72,040,687 (GRCm39)	I631N	probably damaging	Het
Tmed3	T	A	9: 89,581,843 (GRCm39)	S207C	probably damaging	Het
Tmem59l	G	A	8: 70,939,022 (GRCm39)	P51S	probably benign	Het
Trpc3	A	G	3: 36,678,542 (GRCm39)	Y848H	probably damaging	Het
Tsen2	T	C	6: 115,526,881 (GRCm39)	F66S	probably damaging	Het
Ttll5	T	A	12: 86,003,384 (GRCm39)	S216R	probably damaging	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vmn2r76	T	C	7: 85,875,114 (GRCm39)	N621S	probably damaging	Het
Wdr75	A	G	1: 45,856,539 (GRCm39)	T521A	probably damaging	Het
Wrnip1	T	A	13: 32,986,739 (GRCm39)	D173E	probably damaging	Het
Zfp317	G	A	9: 19,559,100 (GRCm39)	G438D	probably damaging	Het

Other mutations in Zscan10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Zscan10	APN	17	23,828,435 (GRCm39)	missense	probably damaging	0.98
IGL01353:Zscan10	APN	17	23,828,574 (GRCm39)	missense	probably damaging	1.00
IGL02327:Zscan10	APN	17	23,826,546 (GRCm39)	splice site	probably benign
IGL02556:Zscan10	APN	17	23,827,119 (GRCm39)	missense	possibly damaging	0.90
FR4737:Zscan10	UTSW	17	23,828,419 (GRCm39)	small deletion	probably benign
P0043:Zscan10	UTSW	17	23,828,594 (GRCm39)	nonsense	probably null
R0345:Zscan10	UTSW	17	23,829,056 (GRCm39)	missense	probably damaging	1.00
R0401:Zscan10	UTSW	17	23,824,889 (GRCm39)	missense	probably damaging	1.00
R0699:Zscan10	UTSW	17	23,827,092 (GRCm39)	missense	probably damaging	1.00
R0838:Zscan10	UTSW	17	23,829,008 (GRCm39)	missense	possibly damaging	0.83
R0919:Zscan10	UTSW	17	23,828,981 (GRCm39)	missense	probably damaging	0.99
R1940:Zscan10	UTSW	17	23,828,826 (GRCm39)	missense	probably damaging	1.00
R4647:Zscan10	UTSW	17	23,829,314 (GRCm39)	missense	probably benign
R4753:Zscan10	UTSW	17	23,826,208 (GRCm39)	missense	probably damaging	0.99
R4971:Zscan10	UTSW	17	23,826,147 (GRCm39)	missense	possibly damaging	0.67
R5110:Zscan10	UTSW	17	23,828,606 (GRCm39)	missense	probably damaging	1.00
R5410:Zscan10	UTSW	17	23,829,395 (GRCm39)	missense	probably damaging	1.00
R5516:Zscan10	UTSW	17	23,828,333 (GRCm39)	missense	possibly damaging	0.66
R5871:Zscan10	UTSW	17	23,826,241 (GRCm39)	intron	probably benign
R6109:Zscan10	UTSW	17	23,826,103 (GRCm39)	missense	probably damaging	0.98
R6626:Zscan10	UTSW	17	23,824,831 (GRCm39)	missense	probably damaging	1.00
R6846:Zscan10	UTSW	17	23,824,581 (GRCm39)	missense	probably damaging	0.97
R7184:Zscan10	UTSW	17	23,826,003 (GRCm39)	splice site	probably null
R7223:Zscan10	UTSW	17	23,828,456 (GRCm39)	missense	probably benign	0.00
R7436:Zscan10	UTSW	17	23,828,979 (GRCm39)	missense	possibly damaging	0.52
R8224:Zscan10	UTSW	17	23,828,366 (GRCm39)	missense	probably benign
R8366:Zscan10	UTSW	17	23,828,952 (GRCm39)	missense	probably damaging	1.00
R8787:Zscan10	UTSW	17	23,829,011 (GRCm39)	missense	probably benign
R8918:Zscan10	UTSW	17	23,826,116 (GRCm39)	missense	probably benign	0.24
R8924:Zscan10	UTSW	17	23,824,580 (GRCm39)	missense	possibly damaging	0.66
R9266:Zscan10	UTSW	17	23,828,385 (GRCm39)	missense	possibly damaging	0.55
R9454:Zscan10	UTSW	17	23,826,619 (GRCm39)	critical splice donor site	probably null
R9786:Zscan10	UTSW	17	23,828,330 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCATGCTTAACTATTGGTGGC -3'
(R):5'- AGTATCTCCTGGGGCTCTGG -3'

Sequencing Primer
(F):5'- GGTTCCTTTCAACAGTAGGAAGTAC -3'
(R):5'- GCTCTGGGCTCATTGGC -3'

Posted On

2018-08-01