Mutagenetix > Incidental Mutation

Incidental Mutation 'R1622:Zscan2'

174705

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

039659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80510668-80526285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80525134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 285 (K285R)

Ref Sequence

ENSEMBL: ENSMUSP00000042321 (fasta)

Gene Model

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

AlphaFold

Q07230

PDB Structure

Aart, a six finger zinc finger designed to recognize ANN triplets [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000044115
AA Change: K285R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000042321
Gene: ENSMUSG00000038797
AA Change: K285R

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: K285R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121143
Gene: ENSMUSG00000038797
AA Change: K285R

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

Meta Mutation Damage Score

0.1507

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,696 (GRCm39)	E207G	probably benign	Het
Arhgap19	T	A	19: 41,790,412 (GRCm39)	S19C	probably benign	Het
Arhgef18	T	A	8: 3,491,272 (GRCm39)	D374E	possibly damaging	Het
Atf2	A	G	2: 73,684,133 (GRCm39)		probably null	Het
Cadm1	A	G	9: 47,725,139 (GRCm39)	N300S	probably benign	Het
Ccdc159	A	T	9: 21,840,666 (GRCm39)	I78F	possibly damaging	Het
Cdh4	T	C	2: 179,530,885 (GRCm39)	I589T	possibly damaging	Het
Clstn1	T	C	4: 149,713,864 (GRCm39)	I182T	probably damaging	Het
Cnga3	T	A	1: 37,283,909 (GRCm39)		probably benign	Het
Cntln	T	A	4: 84,981,418 (GRCm39)	S865R	probably damaging	Het
Col5a3	C	T	9: 20,683,516 (GRCm39)	G1552E	unknown	Het
Col6a4	A	C	9: 105,874,334 (GRCm39)	S2218A	probably benign	Het
Ephb1	T	C	9: 101,878,910 (GRCm39)	T527A	probably benign	Het
Fkbp15	T	A	4: 62,241,439 (GRCm39)	I569F	possibly damaging	Het
Gabra4	A	G	5: 71,729,329 (GRCm39)	S484P	possibly damaging	Het
Glce	T	C	9: 61,977,843 (GRCm39)	I14V	possibly damaging	Het
Gm4884	A	T	7: 40,692,265 (GRCm39)	Q78L	probably damaging	Het
Gpn1	A	G	5: 31,660,748 (GRCm39)	T180A	possibly damaging	Het
Gpr6	A	T	10: 40,947,288 (GRCm39)	I98N	probably damaging	Het
Hcrtr2	T	C	9: 76,230,722 (GRCm39)	N22S	probably benign	Het
Hfm1	C	T	5: 107,041,389 (GRCm39)	V665I	possibly damaging	Het
Il4ra	T	A	7: 125,169,225 (GRCm39)	I159N	possibly damaging	Het
Irf8	G	C	8: 121,466,561 (GRCm39)	C2S	possibly damaging	Het
Itih2	A	T	2: 10,106,890 (GRCm39)	N701K	probably benign	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mmp10	T	A	9: 7,504,996 (GRCm39)	Y263*	probably null	Het
Morc3	T	A	16: 93,671,694 (GRCm39)	M835K	probably benign	Het
Msh3	A	G	13: 92,481,462 (GRCm39)		probably null	Het
Ncbp1	A	G	4: 46,171,963 (GRCm39)	H777R	possibly damaging	Het
Nfatc1	A	G	18: 80,710,182 (GRCm39)	M514T	probably damaging	Het
Nlrp3	T	A	11: 59,439,302 (GRCm39)	I293N	probably damaging	Het
Pank2	A	T	2: 131,115,889 (GRCm39)	E102D	probably damaging	Het
Pbrm1	A	G	14: 30,754,505 (GRCm39)	D175G	probably benign	Het
Pcdh9	T	C	14: 94,123,311 (GRCm39)	D953G	probably benign	Het
Pibf1	G	A	14: 99,423,917 (GRCm39)	V497I	probably benign	Het
Pkd1	G	A	17: 24,800,614 (GRCm39)	M3085I	probably benign	Het
Prss58	A	T	6: 40,874,248 (GRCm39)	C143S	possibly damaging	Het
Rassf8	A	G	6: 145,765,829 (GRCm39)		probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spag7	T	A	11: 70,555,688 (GRCm39)	D73V	probably damaging	Het
Sult3a1	A	T	10: 33,746,246 (GRCm39)	M189L	probably benign	Het
Syt4	T	C	18: 31,577,069 (GRCm39)	D95G	probably damaging	Het
Tbc1d8	A	C	1: 39,419,317 (GRCm39)	S766A	probably benign	Het
Tmco5	A	T	2: 116,710,796 (GRCm39)	M39L	probably benign	Het
Trcg1	A	G	9: 57,155,955 (GRCm39)	N797S	possibly damaging	Het
Trim34a	A	T	7: 103,910,545 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,009,357 (GRCm39)		probably benign	Het
Urb2	A	G	8: 124,756,363 (GRCm39)	N690S	probably benign	Het
Zfp445	A	G	9: 122,681,614 (GRCm39)	Y776H	possibly damaging	Het
Zfp52	G	A	17: 21,781,833 (GRCm39)	M560I	probably benign	Het
Zfp608	A	G	18: 55,121,366 (GRCm39)	S74P	probably benign	Het
Zfp629	A	G	7: 127,211,012 (GRCm39)	C266R	probably damaging	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
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'- TCAGCAGTCTGATGGGGACAGTG -3'
(R):5'- GTTGCCAAAGCTCTTGCCACAC -3'

Sequencing Primer
(F):5'- CCCCAGTGTGGGAAAACTTTTAG -3'
(R):5'- CTCGGGGCACGAGTACG -3'

Posted On

2014-04-24