Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02473:Zscan4d'

294803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zscan4d

Ensembl Gene

ENSMUSG00000090714

Gene Name

zinc finger and SCAN domain containing 4D

Synonyms

EG545913

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL02473

Quality Score

Status

Chromosome

Chromosomal Location

10895570-10900075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10896336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 345 (C345S)

Ref Sequence

ENSEMBL: ENSMUSP00000066504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067210]

AlphaFold

A7KBS4

Predicted Effect

probably benign
Transcript: ENSMUST00000067210
AA Change: C345S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: C345S

Domain	Start	End	E-Value	Type
Pfam:SCAN	39	126	2.5e-19	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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	G	A	5: 48,545,440 (GRCm39)		probably benign	Het
9030624G23Rik	A	G	12: 24,094,853 (GRCm39)	F106S	probably benign	Het
A930011G23Rik	T	C	5: 99,370,854 (GRCm39)	Y468C	probably damaging	Het
Abcd3	T	C	3: 121,562,893 (GRCm39)	T515A	possibly damaging	Het
Acrbp	A	G	6: 125,031,661 (GRCm39)	T321A	probably benign	Het
Aldh2	T	C	5: 121,710,141 (GRCm39)	Y398C	probably damaging	Het
Baz2b	T	A	2: 59,790,407 (GRCm39)	D602V	probably benign	Het
Ccdc191	T	C	16: 43,777,257 (GRCm39)	V714A	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntn2	A	G	1: 132,446,069 (GRCm39)	L839P	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp3a16	T	C	5: 145,377,304 (GRCm39)	I428V	possibly damaging	Het
Dnah7b	A	T	1: 46,273,353 (GRCm39)	T2494S	probably damaging	Het
Dnaja3	T	A	16: 4,519,104 (GRCm39)	Y348*	probably null	Het
Dnajb3	C	A	1: 88,133,104 (GRCm39)	E99D	probably benign	Het
Igf2bp3	A	G	6: 49,071,163 (GRCm39)	F411L	probably benign	Het
L3mbtl4	A	T	17: 68,866,772 (GRCm39)	Y337F	possibly damaging	Het
Lias	A	G	5: 65,562,745 (GRCm39)	T258A	possibly damaging	Het
Lipk	T	A	19: 34,016,548 (GRCm39)	C254S	probably damaging	Het
Map4k1	T	C	7: 28,699,297 (GRCm39)	L596S	probably damaging	Het
Mdga2	T	C	12: 66,597,385 (GRCm39)	E703G	possibly damaging	Het
Mreg	A	G	1: 72,201,495 (GRCm39)	Y166H	probably damaging	Het
Or2f1b	A	G	6: 42,739,640 (GRCm39)	Y218C	probably damaging	Het
Or4b1b	T	C	2: 90,112,040 (GRCm39)	K293R	probably null	Het
Pcgf2	A	G	11: 97,582,747 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,638,805 (GRCm39)		probably null	Het
Rnf111	A	G	9: 70,348,140 (GRCm39)	V810A	probably damaging	Het
Rpl23a-ps1	A	T	1: 46,020,951 (GRCm39)		noncoding transcript	Het
Smc3	C	A	19: 53,624,879 (GRCm39)	A779E	probably benign	Het
Smtn	C	T	11: 3,482,463 (GRCm39)	G140D	probably damaging	Het
Son	T	C	16: 91,455,683 (GRCm39)	S1477P	probably damaging	Het
Strn	T	C	17: 78,991,722 (GRCm39)	D20G	possibly damaging	Het
Tektl1	A	T	10: 78,586,428 (GRCm39)	S208T	probably benign	Het
Tnxb	T	C	17: 34,936,736 (GRCm39)	L2798P	probably damaging	Het
Ttn	A	C	2: 76,775,896 (GRCm39)	N1715K	probably damaging	Het
Vps33a	A	T	5: 123,707,634 (GRCm39)	I111N	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het

Other mutations in Zscan4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Zscan4d	APN	7	10,896,281 (GRCm39)	missense	probably benign	0.00
IGL01576:Zscan4d	APN	7	10,896,519 (GRCm39)	missense	possibly damaging	0.91
IGL01926:Zscan4d	APN	7	10,898,921 (GRCm39)	missense	probably damaging	0.98
IGL02008:Zscan4d	APN	7	10,896,296 (GRCm39)	missense	probably benign	0.00
IGL02245:Zscan4d	APN	7	10,896,716 (GRCm39)	missense	probably benign
IGL02805:Zscan4d	APN	7	10,898,897 (GRCm39)	splice site	probably benign
IGL03010:Zscan4d	APN	7	10,897,070 (GRCm39)	missense	probably damaging	0.98
IGL03383:Zscan4d	APN	7	10,896,692 (GRCm39)	missense	probably benign	0.07
R0626:Zscan4d	UTSW	7	10,898,946 (GRCm39)	missense	probably damaging	0.97
R1084:Zscan4d	UTSW	7	10,898,932 (GRCm39)	missense	probably damaging	0.99
R1457:Zscan4d	UTSW	7	10,898,921 (GRCm39)	missense	probably damaging	0.98
R2426:Zscan4d	UTSW	7	10,899,022 (GRCm39)	missense	probably damaging	0.99
R2912:Zscan4d	UTSW	7	10,896,614 (GRCm39)	missense	probably benign
R3736:Zscan4d	UTSW	7	10,896,803 (GRCm39)	missense	probably benign
R4379:Zscan4d	UTSW	7	10,898,905 (GRCm39)	missense	probably benign
R4580:Zscan4d	UTSW	7	10,896,435 (GRCm39)	missense	probably benign	0.00
R4765:Zscan4d	UTSW	7	10,896,594 (GRCm39)	missense	probably benign	0.08
R4975:Zscan4d	UTSW	7	10,899,274 (GRCm39)	start codon destroyed	probably null	0.02
R6452:Zscan4d	UTSW	7	10,895,999 (GRCm39)	missense	probably damaging	0.98
R6570:Zscan4d	UTSW	7	10,895,927 (GRCm39)	missense	possibly damaging	0.92
R6680:Zscan4d	UTSW	7	10,896,366 (GRCm39)	missense	possibly damaging	0.85
R7726:Zscan4d	UTSW	7	10,899,169 (GRCm39)	missense	possibly damaging	0.65
R7772:Zscan4d	UTSW	7	10,896,770 (GRCm39)	missense	probably benign	0.28
R8282:Zscan4d	UTSW	7	10,896,369 (GRCm39)	missense	possibly damaging	0.91
R8320:Zscan4d	UTSW	7	10,799,942 (GRCm39)	missense	probably benign	0.00
R9671:Zscan4d	UTSW	7	10,898,945 (GRCm39)	missense	probably damaging	0.97
R9770:Zscan4d	UTSW	7	10,896,036 (GRCm39)	missense	probably benign	0.33

Posted On

2015-04-16