Mutagenetix > Incidental Mutation

Incidental Mutation 'R6725:Zscan4-ps1'

529820

Institutional Source

Beutler Lab

Gene Symbol

Zscan4-ps1

Ensembl Gene

ENSMUSG00000110103

Gene Name

zinc finger and SCAN domain containing 4, pseudogene 1

Synonyms

EG545912

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R6725 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11065139-11069691 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11065979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 328 (T328A)

Ref Sequence

ENSEMBL: ENSMUSP00000131258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165848]

AlphaFold

A0A1C7CYV3

Predicted Effect

probably benign
Transcript: ENSMUST00000165848
AA Change: T328A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: T328A

Domain	Start	End	E-Value	Type
Pfam:SCAN	43	122	1.3e-17	PFAM
low complexity region	181	197	N/A	INTRINSIC
ZnF_C2H2	395	417	5.14e-3	SMART
ZnF_C2H2	424	446	7.68e0	SMART
ZnF_C2H2	452	474	4.17e-3	SMART
ZnF_C2H2	480	503	3.83e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 113,743,201	Y623C	probably damaging	Het
Adgrv1	T	C	13: 81,437,557	E4596G	probably damaging	Het
Adgrv1	A	T	13: 81,493,210	C3267S	probably damaging	Het
Ankrd40	T	G	11: 94,334,815	V224G	probably benign	Het
Ap3s2	C	T	7: 79,920,642		probably benign	Het
Apip	T	A	2: 103,092,525	D229E	possibly damaging	Het
Atp2b4	C	T	1: 133,706,987	R1168H	probably benign	Het
Bcan	T	C	3: 87,995,484	K329R	possibly damaging	Het
Camk1g	T	C	1: 193,350,320	D261G	possibly damaging	Het
Ccdc30	T	A	4: 119,331,599	Q490L	probably damaging	Het
Ccdc83	A	G	7: 90,247,053	W103R	probably damaging	Het
Ctsl	T	A	13: 64,366,623	R69*	probably null	Het
Dchs1	C	T	7: 105,758,793	R1944H	probably damaging	Het
Fgb	T	C	3: 83,043,791	Y305C	probably damaging	Het
Fras1	T	A	5: 96,781,340	Y3868N	possibly damaging	Het
Gal3st2	T	A	1: 93,873,702	S27T	probably benign	Het
Galnt13	A	G	2: 54,855,232	D228G	probably damaging	Het
Gk5	A	T	9: 96,155,470	T346S	probably benign	Het
Gnrhr	T	C	5: 86,185,313	I233V	probably damaging	Het
Greb1	T	C	12: 16,688,567	Y1465C	probably damaging	Het
H6pd	A	G	4: 149,996,358	L10P	probably damaging	Het
Hspg2	G	A	4: 137,515,307	G611E	probably damaging	Het
Ighv7-4	A	T	12: 114,222,869	D94E	probably damaging	Het
Lamb3	T	C	1: 193,304,582	Y59H	probably benign	Het
Msantd1	C	T	5: 34,921,421	T100I	probably damaging	Het
Msx3	T	A	7: 140,048,746		probably benign	Het
Mttp	C	A	3: 138,107,238	A559S	probably damaging	Het
Myh1	C	G	11: 67,201,893	D4E	probably damaging	Het
Olfr1018	A	G	2: 85,823,790	K273R	probably damaging	Het
Olfr1221	G	T	2: 89,112,296	T72N	possibly damaging	Het
Olfr1295	C	T	2: 111,564,907	C179Y	probably damaging	Het
Olfr596	A	T	7: 103,310,354	D211V	probably damaging	Het
Pcdhac1	T	C	18: 37,090,328	Y65H	probably damaging	Het
Pcdhga8	A	T	18: 37,727,262	Y457F	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pja2	A	T	17: 64,289,967	M514K	probably damaging	Het
Plcxd2	T	C	16: 45,972,125	N284D	probably damaging	Het
Polr3d	A	T	14: 70,441,137	M129K	probably benign	Het
Ppp1r42	T	G	1: 9,999,507	E110A	probably damaging	Het
Prdm2	G	A	4: 143,132,901	T1273M	possibly damaging	Het
Prelid2	A	G	18: 41,912,449	I132T	possibly damaging	Het
Sergef	G	A	7: 46,632,667		probably null	Het
Slc24a2	C	A	4: 87,226,882		probably null	Het
Stxbp3	A	T	3: 108,827,600	D24E	possibly damaging	Het
Tas2r123	A	T	6: 132,847,838	M233L	probably damaging	Het
Thsd7a	G	A	6: 12,555,631	H85Y	possibly damaging	Het
Tlr2	T	A	3: 83,838,296	E160V	probably benign	Het
Tmem171	A	T	13: 98,692,170	C157*	probably null	Het
Trpm3	T	C	19: 22,926,028	Y1051H	probably damaging	Het
Vmn2r28	A	G	7: 5,488,409	F280L	probably benign	Het
Xpo7	A	T	14: 70,676,813	Y748N	probably damaging	Het
Zan	T	C	5: 137,438,520	S2024G	unknown	Het
Zfhx2	A	T	14: 55,064,082	Y2148*	probably null	Het

Other mutations in Zscan4-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
G1patch:Zscan4-ps1	UTSW	7	11065979	missense	probably benign	0.13
R6135:Zscan4-ps1	UTSW	7	11065986	missense	probably benign
R6258:Zscan4-ps1	UTSW	7	11065902	missense	probably benign	0.00
R6377:Zscan4-ps1	UTSW	7	11068491	splice site	probably null
R6601:Zscan4-ps1	UTSW	7	11068834	missense	probably benign	0.03
R7198:Zscan4-ps1	UTSW	7	11065699	missense	probably damaging	1.00
R7850:Zscan4-ps1	UTSW	7	11065808	missense	probably benign
R8427:Zscan4-ps1	UTSW	7	11068520	missense	possibly damaging	0.93
R8966:Zscan4-ps1	UTSW	7	11066323	missense	probably benign	0.00
R9098:Zscan4-ps1	UTSW	7	11065568	missense	probably damaging	0.99
R9281:Zscan4-ps1	UTSW	7	11065662	missense	possibly damaging	0.77
R9378:Zscan4-ps1	UTSW	7	11066265	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATCTCTACGGAATCTCTTATGATGAC -3'
(R):5'- TGTCCCCATGGAGGAACAAC -3'

Sequencing Primer
(F):5'- GACTTTCACATGGTAAGTTTGCC -3'
(R):5'- TGGAGGAACAACCAAAGGATTTATCC -3'

Posted On

2018-08-01