Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00807:Znrd1as'

15048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Znrd1as

Ensembl Gene

ENSMUSG00000036214

Gene Name

zinc ribbon domain containing 1, antisense

Synonyms

1700022C21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL00807

Quality Score

Status

Chromosome

Chromosomal Location

36958592-36965625 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36964921 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 132 (A132S)

Ref Sequence

ENSEMBL: ENSMUSP00000147556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040177] [ENSMUST00000173814] [ENSMUST00000209623]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040177
AA Change: A62S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048695
Gene: ENSMUSG00000036214
AA Change: A62S

Domain	Start	End	E-Value	Type
low complexity region	98	115	N/A	INTRINSIC
coiled coil region	163	195	N/A	INTRINSIC
low complexity region	224	236	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172672

Predicted Effect

probably benign
Transcript: ENSMUST00000173814

SMART Domains

Protein: ENSMUSP00000134016
Gene: ENSMUSG00000036214

Domain	Start	End	E-Value	Type
low complexity region	19	36	N/A	INTRINSIC
coiled coil region	84	116	N/A	INTRINSIC
low complexity region	145	157	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185085

Predicted Effect

probably damaging
Transcript: ENSMUST00000209623
AA Change: A132S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,378,285	T3453S	probably benign	Het
Ahnak	T	A	19: 9,008,522	V2390E	possibly damaging	Het
Aldh8a1	A	T	10: 21,395,430	I352F	probably damaging	Het
Ccnt2	T	C	1: 127,797,891		probably benign	Het
Ccr1l1	A	T	9: 123,977,469	W314R	probably benign	Het
Cdc42bpa	A	G	1: 180,141,453	I1218V	possibly damaging	Het
Dlc1	G	A	8: 36,572,848	T1386I	probably benign	Het
Frs2	A	C	10: 117,074,886		probably benign	Het
Gm4951	C	T	18: 60,245,411	S6F	probably damaging	Het
Gria1	T	C	11: 57,012,040	Y3H	probably benign	Het
Ints2	T	C	11: 86,233,135	N609S	probably damaging	Het
Lyst	T	A	13: 13,650,423	M1541K	possibly damaging	Het
Mmachc	A	T	4: 116,705,921	V79E	probably damaging	Het
Nfe2l2	T	C	2: 75,679,413	D21G	probably damaging	Het
Pde2a	G	A	7: 101,504,412	V436M	probably damaging	Het
Rhot1	C	T	11: 80,226,102	H101Y	probably benign	Het
Sh2d4a	T	C	8: 68,329,366		probably null	Het
Taar2	A	G	10: 23,940,675	M38V	probably benign	Het
Tek	A	T	4: 94,798,719	N158I	probably damaging	Het

Other mutations in Znrd1as

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0347:Znrd1as	UTSW	17	36965315	missense	probably damaging	1.00
R0789:Znrd1as	UTSW	17	36964960	missense	probably damaging	1.00
R0993:Znrd1as	UTSW	17	36965047	small deletion	probably benign
R2110:Znrd1as	UTSW	17	36965444	missense	possibly damaging	0.47
R2866:Znrd1as	UTSW	17	36965160	missense	possibly damaging	0.91
R4224:Znrd1as	UTSW	17	36958725	utr 5 prime	probably benign
R4746:Znrd1as	UTSW	17	36964873	missense	probably benign	0.00
R7449:Znrd1as	UTSW	17	36964383	missense	probably damaging	1.00
RF005:Znrd1as	UTSW	17	36965048	small insertion	probably benign
RF008:Znrd1as	UTSW	17	36965054	small insertion	probably benign
RF010:Znrd1as	UTSW	17	36965063	small insertion	probably benign
RF014:Znrd1as	UTSW	17	36965060	small insertion	probably benign
RF024:Znrd1as	UTSW	17	36965057	small insertion	probably benign
RF025:Znrd1as	UTSW	17	36965048	small insertion	probably benign
RF029:Znrd1as	UTSW	17	36965071	small insertion	probably benign
RF035:Znrd1as	UTSW	17	36965066	small insertion	probably benign
RF046:Znrd1as	UTSW	17	36965057	small insertion	probably benign
RF048:Znrd1as	UTSW	17	36965059	small insertion	probably benign
RF053:Znrd1as	UTSW	17	36965066	small insertion	probably benign
RF064:Znrd1as	UTSW	17	36965050	small insertion	probably benign

Posted On

2012-12-06