Mutagenetix > Incidental Mutation

Incidental Mutation 'R3122:Zscan2'

264109

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

040595-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3122 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80510668-80526285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80513092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 26 (A26T)

Ref Sequence

ENSEMBL: ENSMUSP00000117886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044115] [ENSMUST00000132163] [ENSMUST00000147125] [ENSMUST00000155128] [ENSMUST00000205361]

AlphaFold

Q07230

Predicted Effect

probably benign
Transcript: ENSMUST00000044115
AA Change: A26T

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

SMART Domains

Protein: ENSMUSP00000042321
Gene: ENSMUSG00000038797
AA Change: A26T

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
AA Change: A26T

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

SMART Domains

Protein: ENSMUSP00000118774
Gene: ENSMUSG00000038797
AA Change: A26T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147125
AA Change: A26T

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

SMART Domains

Protein: ENSMUSP00000121143
Gene: ENSMUSG00000038797
AA Change: A26T

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
AA Change: A26T

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117886
Gene: ENSMUSG00000038797
AA Change: A26T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205361
AA Change: A26T

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,118,248 (GRCm39)	N8S	possibly damaging	Het
Ago3	A	G	4: 126,311,165 (GRCm39)	I16T	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Brdt	A	G	5: 107,525,011 (GRCm39)	T851A	probably damaging	Het
Capn7	A	T	14: 31,081,167 (GRCm39)	I395F	probably damaging	Het
Ccbe1	A	G	18: 66,199,900 (GRCm39)	M274T	probably benign	Het
Ccdc146	T	C	5: 21,499,591 (GRCm39)	R864G	possibly damaging	Het
Ccdc17	G	T	4: 116,456,749 (GRCm39)		probably benign	Het
Ccdc85a	C	A	11: 28,533,499 (GRCm39)	C15F	unknown	Het
Cpt1c	A	G	7: 44,609,345 (GRCm39)	Y715H	probably damaging	Het
Dmwd	T	A	7: 18,814,620 (GRCm39)	F423L	probably damaging	Het
Dock3	C	G	9: 106,788,542 (GRCm39)	A1598P	probably damaging	Het
Ext2	A	G	2: 93,644,170 (GRCm39)	L37P	probably damaging	Het
Fam120a	T	C	13: 49,045,562 (GRCm39)	D758G	possibly damaging	Het
Foxn4	T	C	5: 114,396,776 (GRCm39)	T236A	probably damaging	Het
Gm9776	A	T	13: 94,495,194 (GRCm39)		probably benign	Het
Grik1	A	T	16: 87,803,361 (GRCm39)	M277K	probably damaging	Het
H2-T23	T	A	17: 36,341,855 (GRCm39)	M248L	probably benign	Het
Hephl1	A	G	9: 15,000,265 (GRCm39)	F329S	possibly damaging	Het
Kif13a	G	A	13: 46,918,072 (GRCm39)		probably benign	Het
Knl1	T	A	2: 118,899,425 (GRCm39)	H375Q	probably benign	Het
Lox	A	G	18: 52,658,177 (GRCm39)	F332S	probably damaging	Het
Ltf	G	A	9: 110,851,968 (GRCm39)	C135Y	probably damaging	Het
Madd	A	G	2: 91,006,554 (GRCm39)	Y347H	probably damaging	Het
Mboat1	T	C	13: 30,422,031 (GRCm39)	Y387H	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	T	C	13: 100,545,503 (GRCm39)	T1342A	probably damaging	Het
Naip6	T	C	13: 100,453,031 (GRCm39)	D10G	probably benign	Het
Nudt8	A	G	19: 4,052,015 (GRCm39)	R209G	possibly damaging	Het
Or4c31	G	T	2: 88,291,853 (GRCm39)	M75I	probably damaging	Het
Or56a3	T	C	7: 104,735,385 (GRCm39)	V154A	probably benign	Het
Or8k35	A	T	2: 86,424,954 (GRCm39)	Y73N	possibly damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Phactr1	T	A	13: 43,213,049 (GRCm39)	S131T	possibly damaging	Het
Phactr3	A	G	2: 177,973,411 (GRCm39)	I475V	probably damaging	Het
Pip	T	A	6: 41,828,819 (GRCm39)	N121K	probably damaging	Het
Pla2g4d	T	C	2: 120,109,384 (GRCm39)	R222G	probably benign	Het
Rbm42	A	G	7: 30,349,152 (GRCm39)		probably benign	Het
Sowahb	T	C	5: 93,191,261 (GRCm39)	D486G	possibly damaging	Het
Svep1	C	T	4: 58,087,845 (GRCm39)	V1745I	possibly damaging	Het
Tnfsf15	T	A	4: 63,652,522 (GRCm39)	E96D	probably benign	Het
Vmn1r217	A	G	13: 23,298,249 (GRCm39)	S218P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r71	T	G	7: 85,264,828 (GRCm39)	Y53*	probably null	Het
Wapl	A	G	14: 34,451,172 (GRCm39)	I729M	possibly damaging	Het
Wrnip1	A	G	13: 32,986,744 (GRCm39)	D175G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTTGTTTCTCAGCAGTG -3'
(R):5'- ATCTGCTCCTTAGTGTGCAC -3'

Sequencing Primer
(F):5'- CTCAGCAGTGTTTCTTGTTGAG -3'
(R):5'- TAGTGTGCACCTCTGGCC -3'

Posted On

2015-02-05