Mutagenetix > Incidental Mutation

Incidental Mutation 'R4545:Zscan12'

333732

Institutional Source

Beutler Lab

Gene Symbol

Zscan12

Ensembl Gene

ENSMUSG00000036721

Gene Name

zinc finger and SCAN domain containing 12

Synonyms

Zfp96

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21362820-21372289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21366705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 165 (K165E)

Ref Sequence

ENSEMBL: ENSMUSP00000153548 (fasta)

Gene Model

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

AlphaFold

Q9Z1D7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053293
AA Change: K165E

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058904
Gene: ENSMUSG00000036721
AA Change: K165E

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

possibly damaging
Transcript: ENSMUST00000099720
AA Change: K165E

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097308
Gene: ENSMUSG00000036721
AA Change: K165E

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

possibly damaging
Transcript: ENSMUST00000225545
AA Change: K165E

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.0649

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,507,844	V201G	probably damaging	Het
Atf7	A	G	15: 102,534,327	V449A	probably benign	Het
Ccr1	G	A	9: 123,964,400	A31V	probably benign	Het
Chrna6	A	T	8: 27,406,683	S389T	probably benign	Het
Clic6	C	T	16: 92,492,157		probably benign	Het
Cmya5	G	A	13: 93,091,918	R2221*	probably null	Het
Coq8b	G	T	7: 27,233,505	C13F	probably benign	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Decr1	C	A	4: 15,930,979	V118F	probably damaging	Het
Dlec1	A	T	9: 119,128,078	I796F	probably damaging	Het
Dnajc11	T	A	4: 151,979,941	D516E	probably damaging	Het
Dock8	G	A	19: 25,188,358	V1869M	probably damaging	Het
Dst	A	G	1: 34,188,738	D1982G	probably damaging	Het
Gm11808	C	T	4: 3,973,244	R106H	probably benign	Het
Gnptab	G	A	10: 88,414,595	D190N	probably benign	Het
Golga4	A	G	9: 118,556,845	K22E	probably damaging	Het
Hecw2	T	C	1: 53,813,222	*1579W	probably null	Het
Ica1l	A	G	1: 60,013,818		probably null	Het
Ift122	T	A	6: 115,890,588	L433Q	probably damaging	Het
Iqgap1	T	C	7: 80,762,567		probably null	Het
Klra13-ps	T	C	6: 130,291,269		noncoding transcript	Het
Mndal	A	T	1: 173,875,664	Y58*	probably null	Het
Mvb12b	G	C	2: 33,827,700	P172R	possibly damaging	Het
Ncapg	T	C	5: 45,671,212	F102L	probably damaging	Het
Olfr1447	T	A	19: 12,901,268	K171*	probably null	Het
Olfr235	T	C	19: 12,268,824	V198A	possibly damaging	Het
Olfr390	T	C	11: 73,787,166	V76A	probably damaging	Het
Pde8a	A	T	7: 81,328,099	R713S	probably damaging	Het
Rbks	T	C	5: 31,624,568	N296S	probably benign	Het
Sema3c	G	A	5: 17,694,772	V421I	probably benign	Het
Tm9sf1	A	G	14: 55,638,108	V393A	possibly damaging	Het
Tubgcp2	G	A	7: 139,996,071	P893L	possibly damaging	Het
Vnn3	G	A	10: 23,856,326	R158H	probably benign	Het
Zfa-ps	G	T	10: 52,544,936		noncoding transcript	Het
Zfp414	T	C	17: 33,631,648		probably benign	Het
Zfp810	G	A	9: 22,278,745	T289I	probably damaging	Het
Zfp819	G	T	7: 43,617,785	R488L	probably damaging	Het
Zfp942	C	T	17: 21,928,304	G448D	probably benign	Het

Other mutations in Zscan12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02864:Zscan12	APN	13	21368560	missense	probably benign	0.02
PIT4480001:Zscan12	UTSW	13	21368574	missense	possibly damaging	0.72
R0122:Zscan12	UTSW	13	21368969	missense	probably damaging	1.00
R1605:Zscan12	UTSW	13	21366643	missense	probably benign	0.00
R1639:Zscan12	UTSW	13	21368986	missense	probably damaging	0.99
R2182:Zscan12	UTSW	13	21368791	missense	probably benign	0.33
R2931:Zscan12	UTSW	13	21364017	missense	possibly damaging	0.92
R3930:Zscan12	UTSW	13	21368630	missense	probably benign	0.18
R4368:Zscan12	UTSW	13	21369383	missense	probably benign	0.00
R4461:Zscan12	UTSW	13	21366619	missense	possibly damaging	0.83
R5353:Zscan12	UTSW	13	21364008	missense	possibly damaging	0.51
R6580:Zscan12	UTSW	13	21369158	missense	probably damaging	0.99
R6734:Zscan12	UTSW	13	21368796	nonsense	probably null
R7462:Zscan12	UTSW	13	21369287	missense	possibly damaging	0.94
R7505:Zscan12	UTSW	13	21368586	missense	possibly damaging	0.72
R7822:Zscan12	UTSW	13	21369204	missense	probably damaging	0.99
R8028:Zscan12	UTSW	13	21368852	missense	probably benign	0.01
R8056:Zscan12	UTSW	13	21369322	missense	probably benign	0.29
R8161:Zscan12	UTSW	13	21363727	missense	probably benign	0.01
R8784:Zscan12	UTSW	13	21363821	missense	possibly damaging	0.82
R8794:Zscan12	UTSW	13	21363677	missense	possibly damaging	0.53
R9716:Zscan12	UTSW	13	21363768	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GGTTCCCTGGATTGAGTGAC -3'
(R):5'- TGCATGTCAACACGTGAGC -3'

Sequencing Primer
(F):5'- CGATCGAGACATGCTGATTGC -3'
(R):5'- CAACACGTGAGCATCAGATTTCTGG -3'

Posted On

2015-08-18