Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00536:Zscan2'

5218

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zscan2

Ensembl Gene

ENSMUSG00000038797

Gene Name

zinc finger and SCAN domain containing 2

Synonyms

Zfp29, Zfp-29

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00536

Quality Score

Status

Chromosome

Chromosomal Location

80510668-80526285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80525164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 295 (T295M)

Ref Sequence

ENSEMBL: ENSMUSP00000121143 (fasta)

Gene Model

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

AlphaFold

Q07230

Predicted Effect

probably damaging
Transcript: ENSMUST00000044115
AA Change: T295M

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042321
Gene: ENSMUSG00000038797
AA Change: T295M

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 damaging
Transcript: ENSMUST00000147125
AA Change: T295M

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

SMART Domains

Protein: ENSMUSP00000121143
Gene: ENSMUSG00000038797
AA Change: T295M

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

Validation Efficiency

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	C	T	5: 99,370,242 (GRCm39)	C506Y	probably damaging	Het
Bahcc1	A	G	11: 120,175,871 (GRCm39)	E1899G	probably damaging	Het
Celsr3	C	T	9: 108,706,391 (GRCm39)	T958I	probably benign	Het
Dock11	T	C	X: 35,258,087 (GRCm39)	V644A	probably benign	Het
Dyrk2	C	A	10: 118,696,097 (GRCm39)	R387L	probably damaging	Het
Fam234b	A	G	6: 135,202,202 (GRCm39)	Y308C	probably damaging	Het
Ik	A	T	18: 36,889,921 (GRCm39)	R517*	probably null	Het
Lipo4	T	A	19: 33,493,086 (GRCm39)	Y49F	probably damaging	Het
Pura	G	A	18: 36,420,943 (GRCm39)	M243I	probably benign	Het
Rsph4a	T	C	10: 33,787,652 (GRCm39)		probably benign	Het
Scaf4	G	T	16: 90,054,250 (GRCm39)	P213Q	unknown	Het
Slc39a12	A	T	2: 14,400,879 (GRCm39)		probably benign	Het
Tex11	C	T	X: 100,076,165 (GRCm39)	C156Y	probably null	Het
Vdac2	G	A	14: 21,888,511 (GRCm39)	G138S	probably benign	Het
Zan	C	T	5: 137,444,944 (GRCm39)	V1772I	unknown	Het

Other mutations in Zscan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6276:Zscan2	UTSW	7	80,525,557 (GRCm39)	missense	probably benign
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

Posted On

2012-04-20