Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Zscan2'

507642

Institutional Source

Beutler Lab

Gene Symbol

Zscan2

Ensembl Gene

ENSMUSG00000038797

Gene Name

zinc finger and SCAN domain containing 2

Synonyms

Zfp29, Zfp-29

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80510668-80526285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80525557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 426 (N426S)

Ref Sequence

ENSEMBL: ENSMUSP00000121143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044115] [ENSMUST00000132163] [ENSMUST00000147125] [ENSMUST00000155128]

AlphaFold

Q07230

Predicted Effect

probably benign
Transcript: ENSMUST00000044115
AA Change: N426S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042321
Gene: ENSMUSG00000038797
AA Change: N426S

Domain	Start	End	E-Value	Type
SCAN	64	160	3.18e-21	SMART
low complexity region	164	177	N/A	INTRINSIC
ZnF_C2H2	222	244	3.49e-5	SMART
ZnF_C2H2	250	272	5.21e-4	SMART
ZnF_C2H2	278	300	1.72e-4	SMART
ZnF_C2H2	306	328	3.69e-4	SMART
ZnF_C2H2	334	356	9.88e-5	SMART
ZnF_C2H2	362	384	4.87e-4	SMART
ZnF_C2H2	390	412	2.43e-4	SMART
ZnF_C2H2	418	440	1.69e-3	SMART
ZnF_C2H2	446	468	2.4e-3	SMART
ZnF_C2H2	474	496	1.69e-3	SMART
ZnF_C2H2	502	524	3.21e-4	SMART
ZnF_C2H2	530	552	1.92e-2	SMART
ZnF_C2H2	558	580	4.24e-4	SMART
ZnF_C2H2	586	608	4.61e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132163

SMART Domains

Protein: ENSMUSP00000118774
Gene: ENSMUSG00000038797

Domain	Start	End	E-Value	Type
SCAN	64	144	5.98e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147125
AA Change: N426S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121143
Gene: ENSMUSG00000038797
AA Change: N426S

Domain	Start	End	E-Value	Type
SCAN	64	160	3.18e-21	SMART
low complexity region	164	177	N/A	INTRINSIC
ZnF_C2H2	222	244	3.49e-5	SMART
ZnF_C2H2	250	272	5.21e-4	SMART
ZnF_C2H2	278	300	1.72e-4	SMART
ZnF_C2H2	306	328	3.69e-4	SMART
ZnF_C2H2	334	356	9.88e-5	SMART
ZnF_C2H2	362	384	4.87e-4	SMART
ZnF_C2H2	390	412	2.43e-4	SMART
ZnF_C2H2	418	440	1.69e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155128

SMART Domains

Protein: ENSMUSP00000117886
Gene: ENSMUSG00000038797

Domain	Start	End	E-Value	Type
SCAN	64	160	3.18e-21	SMART
low complexity region	164	177	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,322,874 (GRCm39)	D364E	probably benign	Het
Adra2c	C	T	5: 35,437,423 (GRCm39)	T65I	probably damaging	Het
Agap2	T	A	10: 126,925,229 (GRCm39)		probably null	Het
Ager	T	C	17: 34,817,728 (GRCm39)	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,621,736 (GRCm39)	I288M	probably benign	Het
Arhgap45	A	T	10: 79,862,068 (GRCm39)	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043 (GRCm39)	Y426C	probably damaging	Het
Azi2	C	T	9: 117,878,406 (GRCm39)	T82I	probably damaging	Het
Baz2b	T	A	2: 59,778,567 (GRCm39)	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,506,338 (GRCm39)	I701S	probably damaging	Het
Ccnq	T	C	11: 78,642,056 (GRCm39)	K145E	probably damaging	Het
Cd55b	T	A	1: 130,345,903 (GRCm39)	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,718,647 (GRCm39)	E199G	probably benign	Het
Cntnap4	A	T	8: 113,478,921 (GRCm39)	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,761,858 (GRCm39)	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,214,636 (GRCm39)	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,979,653 (GRCm39)	E96G	probably benign	Het
Dscaml1	C	T	9: 45,579,458 (GRCm39)	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,378,022 (GRCm39)	G695C	probably damaging	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
F2rl1	G	T	13: 95,650,446 (GRCm39)	Y145*	probably null	Het
Fsip2	A	T	2: 82,810,785 (GRCm39)	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,989,612 (GRCm39)		probably null	Het
Garre1	A	T	7: 33,941,802 (GRCm39)	Y627*	probably null	Het
Gm6811	T	A	17: 21,314,245 (GRCm39)		noncoding transcript	Het
Gm6811	T	G	17: 21,314,952 (GRCm39)		noncoding transcript	Het
H2-M1	G	A	17: 36,982,602 (GRCm39)	T86M	possibly damaging	Het
Hk2	T	C	6: 82,720,347 (GRCm39)	D170G	probably benign	Het
Hmcn1	C	T	1: 150,614,432 (GRCm39)	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,707,826 (GRCm39)	Y89*	probably null	Het
Itga1	T	C	13: 115,117,388 (GRCm39)	E871G	probably benign	Het
Kat6a	T	C	8: 23,429,421 (GRCm39)	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,500,979 (GRCm39)	A756E	probably benign	Het
Krt12	A	T	11: 99,312,728 (GRCm39)	C105*	probably null	Het
Lama1	G	A	17: 68,091,083 (GRCm39)		probably null	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lrrk1	A	G	7: 65,956,587 (GRCm39)		probably null	Het
Lypd9	T	A	11: 58,337,192 (GRCm39)	I94L	possibly damaging	Het
Map2	T	C	1: 66,438,578 (GRCm39)	V34A	probably damaging	Het
Mroh6	A	G	15: 75,757,549 (GRCm39)	L487P	probably damaging	Het
Myo18b	A	T	5: 112,959,508 (GRCm39)	S1430T	probably benign	Het
Notch3	G	A	17: 32,373,723 (GRCm39)	T495I	probably benign	Het
Or1e31	A	T	11: 73,690,229 (GRCm39)	M118K	probably damaging	Het
Palld	C	T	8: 61,966,457 (GRCm39)	A980T	probably damaging	Het
Paxip1	A	T	5: 27,966,666 (GRCm39)	I620N	probably damaging	Het
Pcdha6	A	G	18: 37,102,820 (GRCm39)		probably null	Het
Pcdhb11	G	A	18: 37,554,813 (GRCm39)	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,840,697 (GRCm39)	E139G	probably benign	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phactr3	G	A	2: 177,920,812 (GRCm39)	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,153,684 (GRCm39)		probably benign	Het
Prodh2	A	G	7: 30,206,076 (GRCm39)	H278R	probably benign	Het
Rspry1	T	A	8: 95,349,886 (GRCm39)	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Smn1	A	G	13: 100,264,503 (GRCm39)	N78S	possibly damaging	Het
Spta1	T	A	1: 174,046,078 (GRCm39)	I1614N	probably damaging	Het
Syt17	T	C	7: 118,033,513 (GRCm39)	D165G	probably damaging	Het
Tbck	A	G	3: 132,448,766 (GRCm39)	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,606,687 (GRCm39)	F422L	probably benign	Het
Tex15	T	A	8: 34,067,217 (GRCm39)	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,225,441 (GRCm39)	E846G	probably benign	Het
Ttc41	T	C	10: 86,580,313 (GRCm39)	I753T	probably benign	Het
Vdac1	C	T	11: 52,267,309 (GRCm39)	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 20,994,104 (GRCm39)	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,368,465 (GRCm39)	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,493,730 (GRCm39)	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,570,318 (GRCm39)	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,671,732 (GRCm39)	A490S	possibly damaging	Het
Wdfy4	C	T	14: 32,831,482 (GRCm39)	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,345,604 (GRCm39)		probably null	Het

Other mutations in Zscan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Zscan2	APN	7	80,525,164 (GRCm39)	missense	probably damaging	1.00
IGL01793:Zscan2	APN	7	80,524,692 (GRCm39)	missense	probably null	0.79
R1570:Zscan2	UTSW	7	80,513,141 (GRCm39)	missense	probably damaging	1.00
R1618:Zscan2	UTSW	7	80,525,534 (GRCm39)	nonsense	probably null
R1622:Zscan2	UTSW	7	80,525,134 (GRCm39)	missense	probably benign	0.01
R1842:Zscan2	UTSW	7	80,525,301 (GRCm39)	missense	probably damaging	1.00
R3122:Zscan2	UTSW	7	80,513,092 (GRCm39)	missense	probably benign	0.41
R3415:Zscan2	UTSW	7	80,525,150 (GRCm39)	missense	probably damaging	1.00
R4674:Zscan2	UTSW	7	80,525,150 (GRCm39)	missense	probably damaging	1.00
R5988:Zscan2	UTSW	7	80,525,947 (GRCm39)	missense	possibly damaging	0.47
R6379:Zscan2	UTSW	7	80,513,085 (GRCm39)	missense	probably benign	0.00
R7897:Zscan2	UTSW	7	80,525,448 (GRCm39)	missense	probably damaging	1.00
R9225:Zscan2	UTSW	7	80,513,021 (GRCm39)	missense	probably damaging	1.00
R9363:Zscan2	UTSW	7	80,525,331 (GRCm39)	missense	probably benign	0.31
R9501:Zscan2	UTSW	7	80,525,890 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-03-15