Mutagenetix > Incidental Mutation

Incidental Mutation 'R1639:Zscan12'

173394

Institutional Source

Beutler Lab

Gene Symbol

Zscan12

Ensembl Gene

ENSMUSG00000036721

Gene Name

zinc finger and SCAN domain containing 12

Synonyms

Zfp96

MMRRC Submission

039675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1639 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21546990-21556459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21553156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 327 (C327S)

Ref Sequence

ENSEMBL: ENSMUSP00000153548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053293] [ENSMUST00000099720] [ENSMUST00000225545]

AlphaFold

Q9Z1D7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053293
AA Change: C327S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058904
Gene: ENSMUSG00000036721
AA Change: C327S

Domain	Start	End	E-Value	Type
SCAN	42	154	2.52e-74	SMART
ZnF_C2H2	269	291	5.5e-3	SMART
ZnF_C2H2	297	319	1.72e-4	SMART
ZnF_C2H2	325	347	1.22e-4	SMART
ZnF_C2H2	353	375	5.5e-3	SMART
ZnF_C2H2	381	403	1.95e-3	SMART
ZnF_C2H2	409	431	1.45e-2	SMART
ZnF_C2H2	455	477	2.43e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000099720
AA Change: C327S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097308
Gene: ENSMUSG00000036721
AA Change: C327S

Domain	Start	End	E-Value	Type
SCAN	42	154	2.52e-74	SMART
ZnF_C2H2	269	291	5.5e-3	SMART
ZnF_C2H2	297	319	1.72e-4	SMART
ZnF_C2H2	325	347	1.22e-4	SMART
ZnF_C2H2	353	375	5.5e-3	SMART
ZnF_C2H2	381	403	1.95e-3	SMART
ZnF_C2H2	409	431	1.45e-2	SMART
ZnF_C2H2	455	477	2.43e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000225545
AA Change: C327S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.9071

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,398,828 (GRCm39)	T425N	probably benign	Het
Adam18	T	A	8: 25,142,168 (GRCm39)	I203L	probably benign	Het
Amigo2	A	G	15: 97,143,879 (GRCm39)	M181T	probably benign	Het
Anks1	T	A	17: 28,277,280 (GRCm39)	I1045N	probably damaging	Het
Ap3d1	C	T	10: 80,565,844 (GRCm39)	V108I	probably damaging	Het
Arl8a	C	T	1: 135,080,561 (GRCm39)	R57*	probably null	Het
Atp12a	A	T	14: 56,621,525 (GRCm39)	D720V	possibly damaging	Het
Brpf3	T	C	17: 29,043,042 (GRCm39)		probably null	Het
C2	T	C	17: 35,091,379 (GRCm39)	K95E	probably benign	Het
Cdk19	T	C	10: 40,352,965 (GRCm39)		probably null	Het
Cebpz	T	A	17: 79,242,035 (GRCm39)	I540L	possibly damaging	Het
Cep128	A	G	12: 91,333,142 (GRCm39)	V41A	probably damaging	Het
Cog7	T	C	7: 121,580,642 (GRCm39)	E56G	probably damaging	Het
Cylc2	T	C	4: 51,228,310 (GRCm39)	V127A	probably benign	Het
Cyp2b23	A	G	7: 26,385,842 (GRCm39)	V5A	possibly damaging	Het
Cyp8b1	A	G	9: 121,743,956 (GRCm39)	Y459H	probably benign	Het
Dbpht2	A	G	12: 74,345,932 (GRCm39)		noncoding transcript	Het
Ddx24	T	C	12: 103,377,578 (GRCm39)		probably null	Het
Dgki	C	T	6: 36,914,299 (GRCm39)	C757Y	probably damaging	Het
Eef2k	T	A	7: 120,485,051 (GRCm39)	L306H	probably damaging	Het
Ephb2	T	C	4: 136,421,216 (GRCm39)	N378S	probably benign	Het
Espl1	C	T	15: 102,229,149 (GRCm39)	T1767I	probably damaging	Het
Fbn2	C	A	18: 58,191,534 (GRCm39)	A1530S	probably benign	Het
Fndc11	A	G	2: 180,863,374 (GRCm39)	S60G	possibly damaging	Het
Glb1l	G	T	1: 75,176,245 (GRCm39)	Q612K	probably benign	Het
Gpsm1	A	G	2: 26,235,199 (GRCm39)	E371G	probably damaging	Het
Gtpbp2	G	A	17: 46,476,697 (GRCm39)		probably null	Het
Itch	A	G	2: 155,020,945 (GRCm39)		probably null	Het
Itga2	T	C	13: 114,993,832 (GRCm39)	T774A	probably benign	Het
Kit	A	G	5: 75,813,467 (GRCm39)	I881V	probably damaging	Het
Lpar5	T	C	6: 125,058,564 (GRCm39)	L95P	probably damaging	Het
Lrp6	T	C	6: 134,430,529 (GRCm39)	T1511A	possibly damaging	Het
Mgat4c	T	C	10: 102,214,142 (GRCm39)	Y42H	probably damaging	Het
Mpp3	G	T	11: 101,914,268 (GRCm39)	T109K	probably damaging	Het
Msantd4	A	G	9: 4,385,199 (GRCm39)	E308G	probably damaging	Het
Mug1	T	C	6: 121,857,530 (GRCm39)	S1085P	probably damaging	Het
Myo5b	A	G	18: 74,840,987 (GRCm39)	H956R	probably benign	Het
Ncoa7	A	C	10: 30,577,988 (GRCm39)	L132R	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Or4a81	T	C	2: 89,619,589 (GRCm39)	T36A	probably damaging	Het
Pkhd1l1	G	A	15: 44,404,351 (GRCm39)	V2327M	probably damaging	Het
Ppp1r9b	T	C	11: 94,887,436 (GRCm39)	Y59H	probably damaging	Het
Sema4c	A	T	1: 36,592,615 (GRCm39)	F152I	probably benign	Het
Slit2	A	T	5: 48,416,996 (GRCm39)	Y1016F	probably damaging	Het
Spata31d1c	T	A	13: 65,183,853 (GRCm39)	V465D	probably benign	Het
Ssc5d	T	C	7: 4,931,416 (GRCm39)	C208R	probably damaging	Het
Stambpl1	T	G	19: 34,213,707 (GRCm39)	V312G	probably benign	Het
Stim1	T	A	7: 102,003,748 (GRCm39)	D60E	probably benign	Het
Syt13	T	A	2: 92,776,316 (GRCm39)	V201D	probably benign	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,060,845 (GRCm39)	S366P	possibly damaging	Het
Tex56	T	C	13: 35,128,233 (GRCm39)	I150T	possibly damaging	Het
Tpte	G	A	8: 22,810,913 (GRCm39)	R190H	probably benign	Het
Vmn1r4	T	C	6: 56,934,060 (GRCm39)	V188A	probably damaging	Het
Vmn2r88	A	G	14: 51,654,244 (GRCm39)	D542G	probably damaging	Het
Vps33b	T	A	7: 79,934,101 (GRCm39)	I257N	probably damaging	Het
Wwox	G	T	8: 115,172,118 (GRCm39)	G71*	probably null	Het
Zc3h11a	G	T	1: 133,552,446 (GRCm39)	Q554K	probably benign	Het
Zfp947	T	C	17: 22,365,074 (GRCm39)	K200R	probably benign	Het

Other mutations in Zscan12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02864:Zscan12	APN	13	21,552,730 (GRCm39)	missense	probably benign	0.02
PIT4480001:Zscan12	UTSW	13	21,552,744 (GRCm39)	missense	possibly damaging	0.72
R0122:Zscan12	UTSW	13	21,553,139 (GRCm39)	missense	probably damaging	1.00
R1605:Zscan12	UTSW	13	21,550,813 (GRCm39)	missense	probably benign	0.00
R2182:Zscan12	UTSW	13	21,552,961 (GRCm39)	missense	probably benign	0.33
R2931:Zscan12	UTSW	13	21,548,187 (GRCm39)	missense	possibly damaging	0.92
R3930:Zscan12	UTSW	13	21,552,800 (GRCm39)	missense	probably benign	0.18
R4368:Zscan12	UTSW	13	21,553,553 (GRCm39)	missense	probably benign	0.00
R4461:Zscan12	UTSW	13	21,550,789 (GRCm39)	missense	possibly damaging	0.83
R4545:Zscan12	UTSW	13	21,550,875 (GRCm39)	missense	possibly damaging	0.83
R5353:Zscan12	UTSW	13	21,548,178 (GRCm39)	missense	possibly damaging	0.51
R6580:Zscan12	UTSW	13	21,553,328 (GRCm39)	missense	probably damaging	0.99
R6734:Zscan12	UTSW	13	21,552,966 (GRCm39)	nonsense	probably null
R7462:Zscan12	UTSW	13	21,553,457 (GRCm39)	missense	possibly damaging	0.94
R7505:Zscan12	UTSW	13	21,552,756 (GRCm39)	missense	possibly damaging	0.72
R7822:Zscan12	UTSW	13	21,553,374 (GRCm39)	missense	probably damaging	0.99
R8028:Zscan12	UTSW	13	21,553,022 (GRCm39)	missense	probably benign	0.01
R8056:Zscan12	UTSW	13	21,553,492 (GRCm39)	missense	probably benign	0.29
R8161:Zscan12	UTSW	13	21,547,897 (GRCm39)	missense	probably benign	0.01
R8784:Zscan12	UTSW	13	21,547,991 (GRCm39)	missense	possibly damaging	0.82
R8794:Zscan12	UTSW	13	21,547,847 (GRCm39)	missense	possibly damaging	0.53
R9716:Zscan12	UTSW	13	21,547,938 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TTACTCAGCACTCGCGCCTCATAG -3'
(R):5'- GCAAGCTCTGACTCCTGTCTGAAG -3'

Sequencing Primer
(F):5'- GAGCACAagagagtccacac -3'
(R):5'- cttcccgccctcagcac -3'

Posted On

2014-04-24