Mutagenetix > Incidental Mutation

Incidental Mutation 'R1570:Zscan2'

177180

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

039609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1570 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

80510668-80526285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80513141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 42 (A42E)

Ref Sequence

ENSEMBL: ENSMUSP00000146233 (fasta)

Gene Model

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

AlphaFold

Q07230

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044115
AA Change: A42E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042321
Gene: ENSMUSG00000038797
AA Change: A42E

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

possibly damaging
Transcript: ENSMUST00000132163
AA Change: A42E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118774
Gene: ENSMUSG00000038797
AA Change: A42E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147125
AA Change: A42E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121143
Gene: ENSMUSG00000038797
AA Change: A42E

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 damaging
Transcript: ENSMUST00000155128
AA Change: A42E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117886
Gene: ENSMUSG00000038797
AA Change: A42E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205361
AA Change: A42E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

93% (77/83)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec1	A	G	6: 122,568,044 (GRCm39)		probably null	Het
Arhgap21	G	T	2: 20,885,651 (GRCm39)	Q348K	probably benign	Het
Arl5c	A	G	11: 97,883,213 (GRCm39)	V129A	probably benign	Het
Armh1	A	G	4: 117,087,189 (GRCm39)	S159P	probably damaging	Het
Asb8	A	G	15: 98,034,309 (GRCm39)	L82P	probably damaging	Het
Bahcc1	G	A	11: 120,163,009 (GRCm39)	A436T	possibly damaging	Het
Btc	T	C	5: 91,550,576 (GRCm39)	D2G	unknown	Het
C1s2	G	A	6: 124,602,723 (GRCm39)	T490M	probably benign	Het
Caap1	C	T	4: 94,444,814 (GRCm39)	G43D	probably benign	Het
Ccr5	T	C	9: 123,925,000 (GRCm39)	V201A	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdhr5	C	A	7: 140,851,682 (GRCm39)	G541C	probably damaging	Het
Cep170	A	G	1: 176,583,367 (GRCm39)	I1004T	possibly damaging	Het
Chd9	A	T	8: 91,763,170 (GRCm39)	M2332L	probably benign	Het
Clk1	T	A	1: 58,453,584 (GRCm39)	H334L	probably benign	Het
Cyp4b1	G	A	4: 115,493,160 (GRCm39)	S228F	probably benign	Het
Dnah9	T	C	11: 66,003,156 (GRCm39)	N883D	probably benign	Het
Dync2h1	A	G	9: 7,176,926 (GRCm39)	L11P	probably benign	Het
Ephx4	A	G	5: 107,567,717 (GRCm39)	E225G	probably damaging	Het
Erich6	C	T	3: 58,538,080 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,206,802 (GRCm39)	T89A	probably damaging	Het
Evi2	T	A	11: 79,407,076 (GRCm39)	K166N	possibly damaging	Het
Glrx5	A	G	12: 104,999,127 (GRCm39)	T57A	possibly damaging	Het
Gnptab	T	A	10: 88,255,316 (GRCm39)	V222E	probably damaging	Het
Gpr155	T	C	2: 73,200,382 (GRCm39)	Y375C	possibly damaging	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Ildr2	T	C	1: 166,131,154 (GRCm39)	F337L	probably damaging	Het
Ino80	C	T	2: 119,277,509 (GRCm39)	R322Q	possibly damaging	Het
Lcp2	A	G	11: 34,039,601 (GRCm39)	D467G	probably benign	Het
Lmbr1	A	G	5: 29,459,556 (GRCm39)	I229T	probably damaging	Het
Lnpep	A	T	17: 17,799,418 (GRCm39)	M79K	probably damaging	Het
Lpin1	T	C	12: 16,610,999 (GRCm39)	Q564R	possibly damaging	Het
Lpin2	T	A	17: 71,552,176 (GRCm39)	L794*	probably null	Het
Lrrc37	A	G	11: 103,500,764 (GRCm39)	Y597H	possibly damaging	Het
Lrrc45	T	C	11: 120,610,935 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,529,278 (GRCm39)	S751P	probably damaging	Het
Nbr1	T	C	11: 101,455,656 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,599,749 (GRCm39)	F592S	possibly damaging	Het
Nup133	T	A	8: 124,675,915 (GRCm39)	M1L	possibly damaging	Het
Or2a20	T	C	6: 43,194,285 (GRCm39)	V146A	probably benign	Het
Or3a10	A	C	11: 73,935,633 (GRCm39)	F156V	possibly damaging	Het
Or4n4	T	G	14: 50,518,981 (GRCm39)	H243P	probably damaging	Het
Or4p8	A	C	2: 88,727,290 (GRCm39)	I217S	probably damaging	Het
Or52b4i	C	A	7: 102,191,177 (GRCm39)	H11Q	probably damaging	Het
Or8i2	A	T	2: 86,852,616 (GRCm39)	S91T	probably benign	Het
Otud7b	T	C	3: 96,063,208 (GRCm39)	C816R	probably damaging	Het
Pi4k2a	T	C	19: 42,089,083 (GRCm39)	V148A	probably benign	Het
Pih1d2	T	C	9: 50,532,479 (GRCm39)	M195T	probably benign	Het
Pira13	T	C	7: 3,826,060 (GRCm39)	E311G	probably benign	Het
Plpp6	T	C	19: 28,942,178 (GRCm39)	F260L	probably damaging	Het
R3hcc1l	A	T	19: 42,570,393 (GRCm39)	T663S	probably damaging	Het
Rnf25	T	C	1: 74,634,426 (GRCm39)	E199G	probably damaging	Het
Scin	G	A	12: 40,134,380 (GRCm39)		probably benign	Het
Serpinb1c	A	T	13: 33,080,973 (GRCm39)	S37T	probably benign	Het
Snx19	A	G	9: 30,339,639 (GRCm39)	D259G	probably damaging	Het
Sorcs3	A	G	19: 48,752,620 (GRCm39)	K805R	probably damaging	Het
Sox6	C	A	7: 115,376,358 (GRCm39)	G125W	probably damaging	Het
Spink5	A	G	18: 44,100,174 (GRCm39)	I64V	probably benign	Het
Spmip10	T	A	18: 56,727,606 (GRCm39)	D101E	probably benign	Het
St6galnac1	A	G	11: 116,657,474 (GRCm39)		probably benign	Het
Sult1c2	T	C	17: 54,143,991 (GRCm39)	I105V	probably benign	Het
Tacr3	T	G	3: 134,535,517 (GRCm39)	S162A	probably damaging	Het
Ttc6	T	C	12: 57,721,549 (GRCm39)	S1013P	probably damaging	Het
Zbtb11	C	A	16: 55,811,178 (GRCm39)	N445K	probably benign	Het
Zfp423	A	C	8: 88,509,186 (GRCm39)	V261G	probably benign	Het
Zfp59	T	C	7: 27,553,016 (GRCm39)	V156A	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
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

Predicted Primers

PCR Primer
(F):5'- TTGAAGCCTTCGTGACCATCCAG -3'
(R):5'- TCTTACCACTGTGCCGAAAAGTCTG -3'

Sequencing Primer
(F):5'- TCGTGACCATCCAGGAAGTTG -3'
(R):5'- TTGGCAGCACAGTTAGCATC -3'

Posted On

2014-04-24