Mutagenetix > Incidental Mutation

Incidental Mutation 'R8694:Zscan4e'

668565

Institutional Source

Beutler Lab

Gene Symbol

Zscan4e

Ensembl Gene

ENSMUSG00000095936

Gene Name

zinc finger and SCAN domain containing 4E

Synonyms

EG665848

MMRRC Submission

068548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R8694 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11040305-11044609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11041574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 127 (H127Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147491 (fasta)

Gene Model

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

AlphaFold

A0A1B0GRE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166753
AA Change: H127Q

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125906
Gene: ENSMUSG00000095936
AA Change: H127Q

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

possibly damaging
Transcript: ENSMUST00000166753
AA Change: H127Q

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210521
AA Change: H127Q

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,642,950 (GRCm39)	L277P	probably damaging	Het
Adgrb3	C	A	1: 25,865,472 (GRCm39)	D124Y	probably damaging	Het
Afdn	T	C	17: 14,108,641 (GRCm39)	V1403A	probably benign	Het
Afg3l1	T	C	8: 124,227,973 (GRCm39)	V586A	probably damaging	Het
Ajm1	A	G	2: 25,469,831 (GRCm39)	S27P	possibly damaging	Het
Aloxe3	A	G	11: 69,033,677 (GRCm39)	D597G	probably damaging	Het
Asb15	T	C	6: 24,570,666 (GRCm39)	V548A	probably benign	Het
Atp6v1a	C	T	16: 43,921,991 (GRCm39)	R388Q	probably damaging	Het
Btbd8	A	G	5: 107,658,635 (GRCm39)	D1735G	probably benign	Het
C130074G19Rik	G	A	1: 184,615,184 (GRCm39)	T2M	probably damaging	Het
Ccdc187	T	C	2: 26,165,505 (GRCm39)	T884A	probably benign	Het
Cdk5rap1	G	A	2: 154,195,148 (GRCm39)	R356*	probably null	Het
Cebpz	A	T	17: 79,234,334 (GRCm39)	H725Q	probably damaging	Het
Celsr2	T	C	3: 108,314,176 (GRCm39)	D1283G	probably damaging	Het
Cldn11	G	T	3: 31,217,239 (GRCm39)	V136F	probably damaging	Het
Cpxm2	T	C	7: 131,681,783 (GRCm39)	N249D	probably benign	Het
Ctsz	T	C	2: 174,280,072 (GRCm39)	N67D	probably benign	Het
Drd3	A	C	16: 43,643,075 (GRCm39)	H405P	probably damaging	Het
F2rl2	T	C	13: 95,837,339 (GRCm39)	V128A	probably benign	Het
Fh1	C	T	1: 175,448,126 (GRCm39)	P43S	probably benign	Het
Fndc7	C	T	3: 108,779,622 (GRCm39)	W307*	probably null	Het
Gmip	G	T	8: 70,270,485 (GRCm39)	V732L	probably benign	Het
Heatr4	A	G	12: 84,027,038 (GRCm39)	F73S	probably damaging	Het
Iqcf4	T	C	9: 106,448,111 (GRCm39)		probably benign	Het
Itln1	T	A	1: 171,359,279 (GRCm39)	Q67L	probably damaging	Het
Jak1	A	G	4: 101,013,704 (GRCm39)	V1008A	probably damaging	Het
Kcnh1	A	T	1: 191,921,031 (GRCm39)		probably benign	Het
Kcnu1	T	G	8: 26,342,101 (GRCm39)		probably benign	Het
Kif1b	A	G	4: 149,305,024 (GRCm39)	S967P	probably damaging	Het
Klra17	A	G	6: 129,851,780 (GRCm39)	S31P	probably benign	Het
Kmt2d	C	T	15: 98,742,615 (GRCm39)	E4182K	unknown	Het
Lama5	T	C	2: 179,822,677 (GRCm39)	D2825G	probably damaging	Het
Lmtk2	T	C	5: 144,108,566 (GRCm39)	V336A	probably damaging	Het
Mad1l1	A	G	5: 140,074,438 (GRCm39)	I584T	probably benign	Het
Magea1	T	A	X: 153,871,787 (GRCm39)	N313I	possibly damaging	Het
Mapt	T	C	11: 104,189,440 (GRCm39)	S153P	probably benign	Het
Myo1e	T	C	9: 70,291,172 (GRCm39)	Y988H	probably benign	Het
Ndufc2	A	T	7: 97,049,403 (GRCm39)	N3I	probably benign	Het
Nos2	T	A	11: 78,836,515 (GRCm39)	V531D	possibly damaging	Het
Npbwr1	T	A	1: 5,986,617 (GRCm39)	Y299F	probably damaging	Het
Or4a39	A	G	2: 89,237,378 (GRCm39)	L15P	probably damaging	Het
Or4a70	A	G	2: 89,324,171 (GRCm39)	Y162H	possibly damaging	Het
Or52n20	G	T	7: 104,320,296 (GRCm39)	C129F	probably damaging	Het
Or8h10	G	A	2: 86,808,591 (GRCm39)	P183L	probably damaging	Het
Pp2d1	T	C	17: 53,815,191 (GRCm39)	Y511C	probably benign	Het
Psmb4	T	C	3: 94,793,435 (GRCm39)	N149D	probably benign	Het
Setbp1	T	C	18: 78,901,516 (GRCm39)	K717R	probably damaging	Het
Slc25a11	T	C	11: 70,535,630 (GRCm39)	M303V	probably benign	Het
Spesp1	A	T	9: 62,180,242 (GRCm39)	M222K	probably benign	Het
Tmem132d	A	G	5: 127,869,495 (GRCm39)	M613T	probably benign	Het
Ugt2a2	A	G	5: 87,612,029 (GRCm39)	F294L	probably damaging	Het
Usp34	A	G	11: 23,434,161 (GRCm39)	T3246A		Het
Zfp750	T	A	11: 121,404,456 (GRCm39)	I140F	possibly damaging	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
R8813:Zscan4e	UTSW	7	11,041,540 (GRCm39)	nonsense	probably null
R9613:Zscan4e	UTSW	7	11,040,898 (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'- TTACCAACTAACCTGTGGCC -3'
(R):5'- AGTTTAAGGAAGGCTTATCCTCC -3'

Sequencing Primer
(F):5'- ACCTGTGGCCAATAATCTATCTTGTG -3'
(R):5'- ACTATGGTTGGCAGAGCTCAC -3'

Posted On

2021-04-30