Mutagenetix > Incidental Mutation

Incidental Mutation 'R4105:Zscan4e'

321342

Institutional Source

Beutler Lab

Gene Symbol

Zscan4e

Ensembl Gene

ENSMUSG00000095936

Gene Name

zinc finger and SCAN domain containing 4E

Synonyms

EG665848

MMRRC Submission

040985-MU

Accession Numbers

Essential gene?

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

Stock #

R4105 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

11040305-11044609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11041437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 173 (D173G)

Ref Sequence

ENSEMBL: ENSMUSP00000147356 (fasta)

Gene Model

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

AlphaFold

A0A1B0GRE8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116700

Predicted Effect

probably benign
Transcript: ENSMUST00000166753
AA Change: D173G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125906
Gene: ENSMUSG00000095936
AA Change: D173G

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 benign
Transcript: ENSMUST00000166753
AA Change: D173G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125906
Gene: ENSMUSG00000095936
AA Change: D173G

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 benign
Transcript: ENSMUST00000166753
AA Change: D173G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000166753
AA Change: D173G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000210521
AA Change: D173G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000210521
AA Change: D173G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,647,401 (GRCm39)	S127P	probably benign	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Asb18	T	C	1: 89,896,243 (GRCm39)	S266G	possibly damaging	Het
Atg9a	A	G	1: 75,162,603 (GRCm39)	Y471H	probably damaging	Het
Atosa	A	G	9: 74,916,058 (GRCm39)	Q226R	probably damaging	Het
Bmper	G	A	9: 23,136,059 (GRCm39)	V47I	probably benign	Het
Cel	T	C	2: 28,448,039 (GRCm39)	D329G	probably benign	Het
Ces2f	T	C	8: 105,677,824 (GRCm39)		probably null	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
Dchs1	A	C	7: 105,414,347 (GRCm39)	S823A	probably damaging	Het
Dnajb2	G	T	1: 75,213,543 (GRCm39)	E6*	probably null	Het
Eif2b3	G	A	4: 116,938,831 (GRCm39)	G427R	probably damaging	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,489,888 (GRCm39)	Y3600C	probably damaging	Het
Fbxo10	A	G	4: 45,059,054 (GRCm39)	F228L	probably benign	Het
Fgf7	T	A	2: 125,877,599 (GRCm39)		probably benign	Het
Gm2832	A	T	14: 41,002,856 (GRCm39)	M122L	unknown	Het
Lrrcc1	T	C	3: 14,615,388 (GRCm39)	V73A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,356,247 (GRCm39)	R1123G	probably benign	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Or2o1	A	G	11: 49,051,375 (GRCm39)	H178R	possibly damaging	Het
Pikfyve	A	G	1: 65,229,679 (GRCm39)		probably benign	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Polr1a	A	G	6: 71,953,175 (GRCm39)	N1581S	probably damaging	Het
Polrmt	G	T	10: 79,577,567 (GRCm39)	T344K	probably benign	Het
Postn	T	C	3: 54,283,462 (GRCm39)	F514L	probably damaging	Het
Ptprq	G	T	10: 107,408,828 (GRCm39)	T1895N	probably damaging	Het
Slc15a2	G	T	16: 36,602,755 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,075 (GRCm39)	L150Q	probably benign	Het
Slco2a1	T	C	9: 102,950,449 (GRCm39)	F347S	probably damaging	Het
Smim13	T	A	13: 41,426,127 (GRCm39)	D54E	probably benign	Het
Snrnp200	T	A	2: 127,069,936 (GRCm39)	I1027N	probably damaging	Het
Sult6b1	G	T	17: 79,214,291 (GRCm39)	T6N	probably damaging	Het
Tas1r2	G	A	4: 139,387,363 (GRCm39)	R245H	probably benign	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Trank1	T	C	9: 111,181,265 (GRCm39)	I429T	probably damaging	Het
Trip11	G	A	12: 101,860,581 (GRCm39)	R254*	probably null	Het
Vmn2r65	A	G	7: 84,595,691 (GRCm39)	V331A	probably benign	Het
Ypel3	T	C	7: 126,377,265 (GRCm39)	S82P	probably damaging	Het
Zfp128	T	C	7: 12,618,667 (GRCm39)	L55P	probably 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
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
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'- TTTCTGGGTAATAAGAAGGGAGTCC -3'
(R):5'- TGCAATCCACATGCTCATGC -3'

Sequencing Primer
(F):5'- GGGAGTCCTTTTCATTTCCACTACAG -3'
(R):5'- TGCATAAGAAGGACATGTCTTCCC -3'

Posted On

2015-06-12