Mutagenetix > Incidental Mutation

Incidental Mutation 'R9613:Zscan4e'

724379

Institutional Source

Beutler Lab

Gene Symbol

Zscan4e

Ensembl Gene

ENSMUSG00000095936

Gene Name

zinc finger and SCAN domain containing 4E

Synonyms

EG665848

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R9613 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11040305-11044609 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 11040898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 325 (Q325*)

Ref Sequence

ENSEMBL: ENSMUSP00000147491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166753] [ENSMUST00000210521]

AlphaFold

A0A1B0GRE8

Predicted Effect

probably null
Transcript: ENSMUST00000166753
AA Change: Q325*

SMART Domains

Protein: ENSMUSP00000125906
Gene: ENSMUSG00000095936
AA Change: Q325*

Domain	Start	End	E-Value	Type
Pfam:SCAN	43	122	5e-17	PFAM
low complexity region	181	192	N/A	INTRINSIC
ZnF_C2H2	394	416	2.75e-3	SMART
ZnF_C2H2	423	445	6.57e-1	SMART
ZnF_C2H2	451	473	7.26e-3	SMART
ZnF_C2H2	479	502	3.83e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166753
AA Change: Q325*

Predicted Effect

probably null
Transcript: ENSMUST00000210521
AA Change: Q325*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,771,126 (GRCm39)	R105H	probably damaging	Het
Baz2b	A	T	2: 59,731,824 (GRCm39)	N2071K	probably benign	Het
Chd9	C	A	8: 91,683,150 (GRCm39)	S530*	probably null	Het
Col6a6	G	A	9: 105,616,401 (GRCm39)	H1558Y	probably benign	Het
Cyp7a1	A	G	4: 6,272,587 (GRCm39)	F209L	probably damaging	Het
D430041D05Rik	A	G	2: 104,060,737 (GRCm39)	Y702H	probably benign	Het
Ddx46	T	A	13: 55,787,749 (GRCm39)		probably null	Het
Dgat2	C	G	7: 98,831,692 (GRCm39)	G10R	probably benign	Het
Dync2h1	T	A	9: 7,075,769 (GRCm39)	M3033L	probably damaging	Het
Eef1g	A	G	19: 8,955,018 (GRCm39)	N367S	probably benign	Het
Eef2kmt	T	G	16: 5,067,272 (GRCm39)	E94A	possibly damaging	Het
Ermp1	C	A	19: 29,617,256 (GRCm39)		probably null	Het
Ewsr1	A	C	11: 5,028,924 (GRCm39)	D346E	unknown	Het
Fam227a	G	A	15: 79,518,284 (GRCm39)	T340M	probably benign	Het
Fxr1	G	A	3: 34,100,352 (GRCm39)	V104I	probably benign	Het
Gm6176	A	G	7: 21,750,529 (GRCm39)	V134A	possibly damaging	Het
Igdcc4	G	A	9: 65,027,522 (GRCm39)	V195I	possibly damaging	Het
Ighv2-5	A	G	12: 113,649,189 (GRCm39)	I88T		Het
Irf8	A	T	8: 121,481,207 (GRCm39)	T355S	probably benign	Het
Kif20b	T	A	19: 34,919,934 (GRCm39)	S751T	possibly damaging	Het
Kitl	A	G	10: 99,916,781 (GRCm39)	N195D	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,420,288 (GRCm39)	F322S	probably benign	Het
Map6	T	C	7: 98,918,384 (GRCm39)	S386P	possibly damaging	Het
Nup214	A	G	2: 31,901,035 (GRCm39)	D906G	possibly damaging	Het
Oacyl	A	C	18: 65,864,524 (GRCm39)	T356P	probably damaging	Het
Or1e28-ps1	A	T	11: 73,615,639 (GRCm39)	D70E	probably damaging	Het
Or2at1	A	G	7: 99,416,536 (GRCm39)	T56A	probably benign	Het
Plekha1	C	A	7: 130,479,488 (GRCm39)	P2H	probably damaging	Het
Plekhg4	T	A	8: 106,107,620 (GRCm39)	D1050E	probably damaging	Het
Plxnb2	T	C	15: 89,048,496 (GRCm39)	T638A	probably benign	Het
Pole4	T	C	6: 82,629,099 (GRCm39)	Q89R	probably benign	Het
Prg4	T	C	1: 150,331,660 (GRCm39)	T338A	unknown	Het
Prpf3	G	A	3: 95,758,931 (GRCm39)	R74*	probably null	Het
Prss44	C	A	9: 110,643,806 (GRCm39)	A150E	probably damaging	Het
Prss51	T	A	14: 64,332,461 (GRCm39)	V2E	possibly damaging	Het
Ptpn12	A	G	5: 21,203,621 (GRCm39)	Y386H	probably damaging	Het
Septin4	A	T	11: 87,469,823 (GRCm39)	H3L	possibly damaging	Het
Spata16	G	A	3: 26,932,814 (GRCm39)	V347M	probably damaging	Het
Spata31f1e	A	G	4: 42,792,992 (GRCm39)	V380A	probably benign	Het
Spinkl	T	A	18: 44,301,212 (GRCm39)	Y42F	probably damaging	Het
Suds3	A	T	5: 117,243,234 (GRCm39)	M168K	possibly damaging	Het
Tdrd6	A	G	17: 43,939,518 (GRCm39)	I510T	probably damaging	Het
Tnfrsf22	T	C	7: 143,198,583 (GRCm39)	H44R	probably benign	Het
Trh	G	A	6: 92,219,840 (GRCm39)	R159*	probably null	Het
Ubr4	C	A	4: 139,149,073 (GRCm39)	S457R		Het
Usp54	T	C	14: 20,600,438 (GRCm39)	Y1433C	probably damaging	Het
Vmn1r120	G	A	7: 20,787,046 (GRCm39)	L222F	probably benign	Het
Vmn2r22	T	C	6: 123,615,075 (GRCm39)	I172V	probably damaging	Het
Vmn2r84	A	G	10: 130,226,591 (GRCm39)	S416P	probably damaging	Het
Wapl	T	C	14: 34,453,520 (GRCm39)	V855A	probably benign	Het
Zmynd19	A	G	2: 24,848,217 (GRCm39)	I177V		Het

Other mutations in Zscan4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03210:Zscan4e	APN	7	11,041,459 (GRCm39)	missense	probably benign	0.02
R0295:Zscan4e	UTSW	7	11,041,543 (GRCm39)	missense	probably damaging	1.00
R4105:Zscan4e	UTSW	7	11,041,437 (GRCm39)	missense	probably benign	0.01
R4645:Zscan4e	UTSW	7	11,041,002 (GRCm39)	missense	possibly damaging	0.76
R7308:Zscan4e	UTSW	7	11,041,080 (GRCm39)	missense	probably benign
R7371:Zscan4e	UTSW	7	11,041,251 (GRCm39)	missense	probably benign
R7396:Zscan4e	UTSW	7	11,041,002 (GRCm39)	missense	probably benign	0.27
R7643:Zscan4e	UTSW	7	11,043,452 (GRCm39)	missense	probably damaging	0.99
R7767:Zscan4e	UTSW	7	11,041,461 (GRCm39)	missense	probably damaging	0.98
R8307:Zscan4e	UTSW	7	11,041,059 (GRCm39)	missense	probably benign	0.41
R8465:Zscan4e	UTSW	7	11,041,578 (GRCm39)	missense	probably damaging	1.00
R8694:Zscan4e	UTSW	7	11,041,574 (GRCm39)	missense	possibly damaging	0.90
R8813:Zscan4e	UTSW	7	11,041,540 (GRCm39)	nonsense	probably null
Z1176:Zscan4e	UTSW	7	11,040,906 (GRCm39)	missense	probably damaging	1.00
Z1177:Zscan4e	UTSW	7	11,041,552 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

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

Sequencing Primer
(F):5'- GCATCTCTATGGAATCTCTTTTGATG -3'
(R):5'- TGGAGGAACAACCAATGGATTTATCC -3'

Posted On

2022-09-12