Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02810:Nrde2'

360555

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrde2

Ensembl Gene

ENSMUSG00000021179

Gene Name

nrde-2 necessary for RNA interference, domain containing

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02810

Quality Score

Status

Chromosome

Chromosomal Location

100125452-100159653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100143758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 338 (M338K)

Ref Sequence

ENSEMBL: ENSMUSP00000021596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021596] [ENSMUST00000221954]

AlphaFold

Q80XC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021596
AA Change: M338K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179
AA Change: M338K

Domain	Start	End	E-Value	Type
low complexity region	85	107	N/A	INTRINSIC
low complexity region	146	154	N/A	INTRINSIC
Pfam:NRDE-2	318	658	1.2e-107	PFAM
Blast:HAT	765	800	2e-10	BLAST
Blast:HAT	802	841	3e-16	BLAST
Blast:HAT	986	1018	3e-10	BLAST
Blast:HAT	1075	1109	1e-14	BLAST
Blast:HAT	1111	1143	8e-15	BLAST
low complexity region	1154	1171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221954

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,101,535	K1491E	probably damaging	Het
Abi3bp	T	C	16: 56,677,775	S696P	probably damaging	Het
Ago1	A	G	4: 126,443,093	V273A	probably benign	Het
Bbs2	A	G	8: 94,086,911	Y213H	probably benign	Het
Car10	T	A	11: 93,578,696	Y142N	probably damaging	Het
Ccdc130	A	G	8: 84,264,368		probably benign	Het
Eml6	T	C	11: 29,849,016	K415E	possibly damaging	Het
Exoc3l	A	T	8: 105,295,348	I41N	probably damaging	Het
Fam214b	C	A	4: 43,034,429	V389F	probably damaging	Het
Fat3	T	C	9: 16,376,850	D459G	probably damaging	Het
Gabbr1	T	C	17: 37,062,762	F401L	probably damaging	Het
Galnt10	G	A	11: 57,725,586	R109Q	probably damaging	Het
Gpr108	C	T	17: 57,242,742	D265N	probably benign	Het
Helb	T	C	10: 120,091,703	N834S	possibly damaging	Het
Igkv8-30	A	G	6: 70,117,358	V23A	probably benign	Het
Iqck	A	T	7: 118,971,439	K271N	possibly damaging	Het
Klhl17	T	C	4: 156,234,057	E36G	possibly damaging	Het
Klrb1b	A	G	6: 128,818,467		probably null	Het
Mybl1	T	C	1: 9,678,388	T328A	probably benign	Het
Mybl1	G	A	1: 9,673,115	P571S	probably damaging	Het
Nav3	A	T	10: 109,816,274	D873E	probably damaging	Het
Nms	T	C	1: 38,948,644	Y147H	possibly damaging	Het
Oasl2	T	A	5: 114,897,791	F43I	probably damaging	Het
Oxr1	G	A	15: 41,813,583	V91I	probably benign	Het
Pcnx2	C	T	8: 125,887,203	C503Y	probably benign	Het
Polr2m	A	T	9: 71,483,566	I14K	probably benign	Het
Ppara	T	C	15: 85,777,677	S40P	probably damaging	Het
Shisa6	T	A	11: 66,224,948	T288S	possibly damaging	Het
Slc26a5	T	C	5: 21,813,383		probably benign	Het
Spag1	A	G	15: 36,234,547	N818D	probably damaging	Het
Srcap	T	C	7: 127,521,663		probably null	Het
Tctn1	C	T	5: 122,242,601		probably null	Het
Triobp	A	G	15: 79,002,203	N507S	possibly damaging	Het
Ugt2b34	C	A	5: 86,906,524	V133L	probably benign	Het
Zcchc6	A	G	13: 59,782,016		probably null	Het

Other mutations in Nrde2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02207:Nrde2	APN	12	100130931	missense	probably benign	0.01
IGL02697:Nrde2	APN	12	100131207	missense	probably damaging	1.00
IGL02798:Nrde2	APN	12	100143822	nonsense	probably null
IGL02814:Nrde2	APN	12	100144135	missense	probably null	0.80
IGL02990:Nrde2	APN	12	100142096	missense	probably damaging	1.00
kurtz	UTSW	12	100134405	missense	possibly damaging	0.92
R0090:Nrde2	UTSW	12	100129286	splice site	probably benign
R0576:Nrde2	UTSW	12	100132233	missense	possibly damaging	0.82
R0646:Nrde2	UTSW	12	100143846	nonsense	probably null
R1130:Nrde2	UTSW	12	100125670	missense	probably damaging	0.97
R1216:Nrde2	UTSW	12	100149810	splice site	probably benign
R1661:Nrde2	UTSW	12	100149860	missense	probably benign	0.19
R2069:Nrde2	UTSW	12	100142232	missense	probably damaging	1.00
R4405:Nrde2	UTSW	12	100130584	missense	probably benign	0.01
R4422:Nrde2	UTSW	12	100146027	nonsense	probably null
R5169:Nrde2	UTSW	12	100129293	critical splice donor site	probably null
R5200:Nrde2	UTSW	12	100130497	missense	possibly damaging	0.77
R5338:Nrde2	UTSW	12	100130778	missense	probably damaging	1.00
R5512:Nrde2	UTSW	12	100142250	missense	probably benign	0.20
R5820:Nrde2	UTSW	12	100132287	missense	probably benign	0.00
R6019:Nrde2	UTSW	12	100132242	missense	probably benign	0.04
R6346:Nrde2	UTSW	12	100132306	missense	probably benign	0.01
R6378:Nrde2	UTSW	12	100130757	missense	probably damaging	0.99
R6479:Nrde2	UTSW	12	100143948	missense	probably benign	0.00
R6523:Nrde2	UTSW	12	100134405	missense	possibly damaging	0.92
R7073:Nrde2	UTSW	12	100132488	missense	probably benign	0.00
R7220:Nrde2	UTSW	12	100130919	missense	probably benign	0.05
R7412:Nrde2	UTSW	12	100142250	nonsense	probably null
R7505:Nrde2	UTSW	12	100132498	missense	probably benign	0.15
R7699:Nrde2	UTSW	12	100130835	missense	probably benign	0.16
R7700:Nrde2	UTSW	12	100130835	missense	probably benign	0.16
R7733:Nrde2	UTSW	12	100144140	missense	possibly damaging	0.92
R7868:Nrde2	UTSW	12	100131187	missense	possibly damaging	0.65
R7963:Nrde2	UTSW	12	100149868	missense	probably damaging	0.99
R8131:Nrde2	UTSW	12	100142243	missense	probably benign	0.02
R8213:Nrde2	UTSW	12	100131003	missense	probably benign
R9061:Nrde2	UTSW	12	100143864	missense	probably benign	0.00
R9142:Nrde2	UTSW	12	100151259	missense	probably benign	0.15
R9371:Nrde2	UTSW	12	100126218	missense	probably benign	0.09
R9412:Nrde2	UTSW	12	100130422	nonsense	probably null
R9468:Nrde2	UTSW	12	100140009	missense	probably benign	0.00
R9542:Nrde2	UTSW	12	100144167	missense	probably damaging	0.97

Posted On

2015-12-18