Mutagenetix > Incidental Mutations

Incidental Mutation 'R0347:Znrd1as'

38484

Institutional Source

Beutler Lab

Gene Symbol

Znrd1as

Ensembl Gene

ENSMUSG00000036214

Gene Name

zinc ribbon domain containing 1, antisense

Synonyms

1700022C21Rik

MMRRC Submission

038554-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0347 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

36958592-36965625 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36965315 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 114 (M114K)

Ref Sequence

ENSEMBL: ENSMUSP00000134016 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040177
AA Change: M193K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048695
Gene: ENSMUSG00000036214
AA Change: M193K

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 damaging
Transcript: ENSMUST00000173814
AA Change: M114K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134016
Gene: ENSMUSG00000036214
AA Change: M114K

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: M263K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	T	10: 77,984,422	I209F	probably damaging	Het
5830411N06Rik	T	A	7: 140,297,854	H800Q	probably damaging	Het
Abca4	A	G	3: 122,120,099	E908G	probably benign	Het
Abcb5	T	A	12: 118,965,251		probably benign	Het
Adhfe1	T	A	1: 9,553,430	F102Y	probably benign	Het
Aff4	A	G	11: 53,400,088	Y625C	probably benign	Het
Alox5	T	C	6: 116,413,552	E488G	possibly damaging	Het
Ankmy2	T	C	12: 36,193,754	C323R	probably damaging	Het
Ankrd28	A	G	14: 31,702,022	*1084R	probably null	Het
Apol10a	A	T	15: 77,488,691	I176F	probably damaging	Het
Arhgap26	C	T	18: 38,617,744	T70I	unknown	Het
Arid2	A	G	15: 96,370,952	N982S	probably benign	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Camsap3	A	G	8: 3,602,029	D291G	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdc20b	G	T	13: 113,059,827	G162V	probably damaging	Het
Cep44	T	G	8: 56,545,475	E56A	probably damaging	Het
Cfap65	A	G	1: 74,926,444	L469P	probably damaging	Het
Cilp	T	A	9: 65,280,153	C1177S	probably benign	Het
Ctnnbip1	C	T	4: 149,545,754	P7S	probably damaging	Het
Cyp11a1	T	C	9: 58,016,260		probably benign	Het
Cyp3a11	C	T	5: 145,865,925	V253M	possibly damaging	Het
D630045J12Rik	C	A	6: 38,181,392	V1117L	probably damaging	Het
Dnah7b	T	A	1: 46,240,944	S2678T	probably damaging	Het
Dock1	T	C	7: 134,763,867	I428T	probably damaging	Het
Fam83f	A	G	15: 80,672,257	D114G	probably damaging	Het
Flt3	T	A	5: 147,357,992	N423I	probably damaging	Het
Fnbp1l	A	T	3: 122,590,175	F31L	probably damaging	Het
Glrx3	G	A	7: 137,437,701	E10K	unknown	Het
Gm12185	T	C	11: 48,915,182	E394G	probably benign	Het
Gm15448	A	T	7: 3,822,874	V332E	probably damaging	Het
Gpatch1	C	T	7: 35,297,631	V381M	probably benign	Het
Grm8	T	C	6: 27,981,222	S230G	probably benign	Het
Heyl	A	T	4: 123,233,940	D25V	probably benign	Het
Junb	G	A	8: 84,978,478		probably benign	Het
Klhl29	C	A	12: 5,084,354	V747F	probably damaging	Het
Krt77	T	C	15: 101,859,869	H569R	unknown	Het
Ldhb	T	C	6: 142,494,133	N227S	probably benign	Het
Megf6	A	G	4: 154,254,635	D543G	possibly damaging	Het
Mrps23	A	T	11: 88,210,693	Q136L	probably benign	Het
Myh2	C	T	11: 67,185,304		probably benign	Het
Nadk2	T	A	15: 9,084,207	D133E	probably benign	Het
Neurod4	G	A	10: 130,271,111	T98I	probably damaging	Het
Nfatc2	G	T	2: 168,536,290	T465K	probably damaging	Het
Nipbl	A	G	15: 8,350,732	S859P	probably benign	Het
Nipsnap3a	T	C	4: 52,997,155		probably benign	Het
Nlrp4c	A	G	7: 6,066,416	K439E	possibly damaging	Het
Olfr1419	A	T	19: 11,870,433	L261H	probably damaging	Het
Olfr392	C	T	11: 73,814,311	G257D	probably damaging	Het
Olfr434	T	C	6: 43,217,362	F150L	probably benign	Het
Pds5b	T	A	5: 150,736,427		probably benign	Het
Plch1	A	G	3: 63,753,316	M282T	probably damaging	Het
Plch2	C	A	4: 154,986,721	R1067L	possibly damaging	Het
Pou2f2	A	C	7: 25,097,701	F206V	probably damaging	Het
Prss50	A	G	9: 110,862,350	I49V	probably damaging	Het
Rexo5	T	A	7: 119,823,896		probably null	Het
Rgl2	C	T	17: 33,932,738	T252I	probably damaging	Het
Rp1l1	A	T	14: 64,030,804	K1280*	probably null	Het
Rpl24	T	A	16: 55,970,177		probably null	Het
Satb1	T	A	17: 51,739,906	K763*	probably null	Het
Sema6a	T	A	18: 47,291,129	R237S	probably damaging	Het
Spg11	T	C	2: 122,097,369	T645A	probably damaging	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Tanc1	T	C	2: 59,842,991	V1480A	probably benign	Het
Tbc1d2	T	C	4: 46,620,574	D412G	possibly damaging	Het
Tecrl	T	C	5: 83,294,632	E198G	probably damaging	Het
Tigd4	A	G	3: 84,593,860	D28G	probably damaging	Het
Trp53bp2	T	G	1: 182,441,648	L226V	probably benign	Het
Ttll13	T	C	7: 80,260,505	S799P	possibly damaging	Het
Vps13c	A	T	9: 67,910,233	Q1062H	possibly damaging	Het
Wnt10a	T	G	1: 74,793,543	H98Q	probably damaging	Het
Zfp651	C	T	9: 121,763,102	P198S	probably damaging	Het
Zfp959	T	A	17: 55,897,180	Y69*	probably null	Het

Other mutations in Znrd1as

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Znrd1as	APN	17	36964921	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- AAGCACTCTGCAAGGAGCAAGC -3'
(R):5'- TGGCTGGACTAGTGGGTATGCAAC -3'

Sequencing Primer
(F):5'- accaccaccaccaccac -3'
(R):5'- GACTAGTGGGTATGCAACTACCTTC -3'

Posted On

2013-05-23