Mutagenetix > Incidental Mutation

Incidental Mutation 'R7223:Zscan10'

561980

Institutional Source

Beutler Lab

Gene Symbol

Zscan10

Ensembl Gene

ENSMUSG00000023902

Gene Name

zinc finger and SCAN domain containing 10

Synonyms

Zscan10, Zfp206

MMRRC Submission

045295-MU

Accession Numbers

Ncbi RefSeq: NM_001033425.3; MGI:3040700

Essential gene?

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

Stock #

R7223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23600856-23611019 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23609482 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 333 (D333N)

Ref Sequence

ENSEMBL: ENSMUSP00000093255 (fasta)

Gene Model

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

AlphaFold

Q3URR7

PDB Structure

Crystal structure of the SCAN domain from mouse Zfp206 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000095595
AA Change: D333N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093255
Gene: ENSMUSG00000023902
AA Change: D333N

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

possibly damaging
Transcript: ENSMUST00000115509
AA Change: D223N

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111171
Gene: ENSMUSG00000023902
AA Change: D223N

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

probably benign
Transcript: ENSMUST00000120967

SMART Domains

Protein: ENSMUSP00000113386
Gene: ENSMUSG00000023902

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
AA Change: D257N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116748
Gene: ENSMUSG00000023902
AA Change: D257N

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,274,143	V733E	probably benign	Het
Adam34	A	T	8: 43,652,004	N201K	probably benign	Het
Aldh3b2	A	C	19: 3,979,592	S322R	probably damaging	Het
Anpep	A	T	7: 79,825,310	L914Q	probably damaging	Het
Arhgap30	T	C	1: 171,407,571	F535S	probably damaging	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Baz2a	G	T	10: 128,112,606	G252V	probably damaging	Het
Brinp3	T	A	1: 146,901,074	S420T	possibly damaging	Het
Carmil3	T	C	14: 55,496,238	F359S	possibly damaging	Het
Ccdc124	A	T	8: 70,868,526	L190Q	probably damaging	Het
Ccr6	T	C	17: 8,256,140	V59A	probably damaging	Het
Ccr8	T	A	9: 120,094,617	I266N	probably damaging	Het
Cdh23	T	A	10: 60,331,817	E1798V	probably damaging	Het
Cdk5rap2	T	C	4: 70,235,447	N1713S	probably benign	Het
Cep19	T	A	16: 32,104,015	I33N	probably damaging	Het
Cers3	A	T	7: 66,783,415	Y196F	probably damaging	Het
Cidea	T	C	18: 67,366,421	I126T	probably damaging	Het
Copg2	A	T	6: 30,812,754	Y546*	probably null	Het
Cul3	A	T	1: 80,287,000	V261E	probably benign	Het
Cyp2g1	A	T	7: 26,814,632	D221V	probably damaging	Het
Cyp8b1	G	A	9: 121,915,097	H390Y	probably damaging	Het
Daam1	T	C	12: 71,988,943	F971L	probably damaging	Het
Dnajc24	G	A	2: 106,001,966	S24L	possibly damaging	Het
Dpysl3	T	C	18: 43,438,042	S56G	probably benign	Het
Esp1	A	G	17: 40,731,081	D88G	probably benign	Het
Fam171b	A	G	2: 83,878,230	T359A	probably damaging	Het
Fam186b	T	C	15: 99,279,837	E536G	possibly damaging	Het
Fbxo3	T	C	2: 104,043,012	V156A	possibly damaging	Het
Gls2	C	A	10: 128,199,194	H65Q	probably benign	Het
Gp2	A	G	7: 119,451,498		probably null	Het
Gpcpd1	T	A	2: 132,534,056	K435I	probably benign	Het
Gpx6	T	A	13: 21,317,670		probably null	Het
Hps3	A	T	3: 20,030,419	S202T	probably benign	Het
Htr1d	T	A	4: 136,443,501	L347H	probably damaging	Het
Igfals	T	C	17: 24,881,234	L433P	probably damaging	Het
Ilvbl	C	T	10: 78,583,696	H537Y	probably benign	Het
Iqgap2	A	T	13: 95,628,972	M1530K	probably damaging	Het
Jarid2	A	G	13: 44,896,322	T247A	possibly damaging	Het
L3hypdh	C	T	12: 72,074,009	V323I	possibly damaging	Het
Lama3	C	T	18: 12,582,608	T1707I	possibly damaging	Het
Map6	G	T	7: 99,268,025	A2S	probably damaging	Het
Mfap3	T	A	11: 57,530,240	I349K	probably benign	Het
Mybl2	A	G	2: 163,072,705	T248A	probably benign	Het
N6amt1	A	G	16: 87,362,660	*151W	probably null	Het
Nhlrc1	A	G	13: 47,014,208	V191A	probably benign	Het
Nkx2-5	T	C	17: 26,839,620	E120G	possibly damaging	Het
Olfr1066	T	A	2: 86,455,867	I135F	possibly damaging	Het
Olfr1380	T	A	11: 49,564,098	M59K	probably damaging	Het
Olfr582	C	A	7: 103,041,632	T46N	possibly damaging	Het
Olfr890	T	C	9: 38,143,753	V201A	probably benign	Het
Pcdha8	T	G	18: 36,993,148	L228V	probably benign	Het
Pcsk2	A	G	2: 143,690,333	T134A	possibly damaging	Het
Phldb3	G	A	7: 24,624,653	R484Q	probably benign	Het
Pipox	A	G	11: 77,881,186	S371P	probably damaging	Het
Plekhg1	T	C	10: 3,873,343	S159P		Het
Psme4	C	T	11: 30,874,226	P1737S	probably benign	Het
Pygm	G	A	19: 6,388,863	D328N	probably benign	Het
Rabgef1	A	T	5: 130,190,960	E88V	probably benign	Het
Rims2	G	T	15: 39,437,032	R245L	probably benign	Het
Slc38a4	T	C	15: 97,010,345	I172V	probably damaging	Het
Slc4a10	T	A	2: 62,268,665	Y586N	probably damaging	Het
Snap91	C	T	9: 86,879,557		probably benign	Het
Sorcs1	C	T	19: 50,190,042	V881I	probably benign	Het
Spef2	A	T	15: 9,601,640	V1512E	unknown	Het
Sufu	T	C	19: 46,453,277	I292T	possibly damaging	Het
Tet1	T	C	10: 62,813,671	N87D	possibly damaging	Het
Tmem108	T	C	9: 103,499,534	T239A	not run	Het
Tmem121	A	T	12: 113,188,494	K111*	probably null	Het
Tpp2	T	A	1: 43,968,888	D417E	probably damaging	Het
Tpr	G	A	1: 150,439,256	E2025K	possibly damaging	Het
Trappc3	C	T	4: 126,275,152	A145V	possibly damaging	Het
Ttn	T	C	2: 76,890,981	D6754G	probably null	Het
Unc13c	T	A	9: 73,629,191	M1627L	probably benign	Het
Ush2a	A	G	1: 188,810,217	I3327V	probably benign	Het
Vmn1r74	C	T	7: 11,846,967	Q65*	probably null	Het
Wdr18	G	A	10: 79,960,368	R69H	probably damaging	Het
Zbed5	G	T	5: 129,900,438	D132Y	probably damaging	Het
Zfp644	A	T	5: 106,637,582	Y366*	probably null	Het
Zfyve26	T	C	12: 79,246,171	N2068S	probably damaging	Het
Zic2	T	C	14: 122,476,091	F139S	probably damaging	Het
Zmynd11	T	C	13: 9,710,162	Q141R	probably benign	Het
Zrsr1	A	G	11: 22,973,388	E54G	probably benign	Het

Other mutations in Zscan10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Zscan10	APN	17	23609461	missense	probably damaging	0.98
IGL01353:Zscan10	APN	17	23609600	missense	probably damaging	1.00
IGL02327:Zscan10	APN	17	23607572	splice site	probably benign
IGL02556:Zscan10	APN	17	23608145	missense	possibly damaging	0.90
FR4737:Zscan10	UTSW	17	23609445	small deletion	probably benign
P0043:Zscan10	UTSW	17	23609620	nonsense	probably null
R0345:Zscan10	UTSW	17	23610082	missense	probably damaging	1.00
R0401:Zscan10	UTSW	17	23605915	missense	probably damaging	1.00
R0699:Zscan10	UTSW	17	23608118	missense	probably damaging	1.00
R0838:Zscan10	UTSW	17	23610034	missense	possibly damaging	0.83
R0919:Zscan10	UTSW	17	23610007	missense	probably damaging	0.99
R1940:Zscan10	UTSW	17	23609852	missense	probably damaging	1.00
R4647:Zscan10	UTSW	17	23610340	missense	probably benign
R4753:Zscan10	UTSW	17	23607234	missense	probably damaging	0.99
R4971:Zscan10	UTSW	17	23607173	missense	possibly damaging	0.67
R5110:Zscan10	UTSW	17	23609632	missense	probably damaging	1.00
R5410:Zscan10	UTSW	17	23610421	missense	probably damaging	1.00
R5516:Zscan10	UTSW	17	23609359	missense	possibly damaging	0.66
R5871:Zscan10	UTSW	17	23607267	intron	probably benign
R6109:Zscan10	UTSW	17	23607129	missense	probably damaging	0.98
R6626:Zscan10	UTSW	17	23605857	missense	probably damaging	1.00
R6750:Zscan10	UTSW	17	23607190	missense	possibly damaging	0.49
R6846:Zscan10	UTSW	17	23605607	missense	probably damaging	0.97
R7184:Zscan10	UTSW	17	23607029	splice site	probably null
R7436:Zscan10	UTSW	17	23610005	missense	possibly damaging	0.52
R8224:Zscan10	UTSW	17	23609392	missense	probably benign
R8366:Zscan10	UTSW	17	23609978	missense	probably damaging	1.00
R8787:Zscan10	UTSW	17	23610037	missense	probably benign
R8918:Zscan10	UTSW	17	23607142	missense	probably benign	0.24
R8924:Zscan10	UTSW	17	23605606	missense	possibly damaging	0.66
R9266:Zscan10	UTSW	17	23609411	missense	possibly damaging	0.55
R9454:Zscan10	UTSW	17	23607645	critical splice donor site	probably null
R9786:Zscan10	UTSW	17	23609356	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGAATGCCTGACAATGAG -3'
(R):5'- ATGTGCAGCTTGAGGATCGAG -3'

Sequencing Primer
(F):5'- CCTGACAATGAGGAACTTAAAGTTG -3'
(R):5'- GAGCTGCGTCCAAAAGTCTTC -3'

Posted On

2019-06-26