Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01469:9430007A20Rik'

88204

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9430007A20Rik

Ensembl Gene

ENSMUSG00000028593

Gene Name

RIKEN cDNA 9430007A20 gene

Synonyms

LOC381572

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

144519822-144529353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144528622 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 204 (Q204R)

Ref Sequence

ENSEMBL: ENSMUSP00000030328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030328]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030328
AA Change: Q204R

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030328
Gene: ENSMUSG00000028593
AA Change: Q204R

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Abhydrolase_3	115	286	6.2e-32	PFAM
Pfam:Abhydrolase_3	273	381	7.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120637

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	C	T	13: 12,310,910	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,677,752		probably null	Het
Ccdc107	A	G	4: 43,495,751	N218S	probably benign	Het
Cdh23	A	T	10: 60,597,725	M60K	probably benign	Het
Cenpe	A	G	3: 135,228,806	Q378R	probably damaging	Het
Dnah8	T	A	17: 30,683,714		probably benign	Het
Eif2b4	T	C	5: 31,187,767	D190G	probably benign	Het
Fmo5	A	G	3: 97,651,568	N448S	probably benign	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Gbf1	A	T	19: 46,279,364	E1271V	probably damaging	Het
Ifitm6	A	T	7: 141,016,812	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,653,346		probably null	Het
Kng2	T	A	16: 22,999,827	K305I	probably damaging	Het
Lrp1	C	T	10: 127,584,414	R900Q	probably damaging	Het
Maml1	A	G	11: 50,266,526	M274T	probably damaging	Het
Med23	A	G	10: 24,882,597	E278G	probably damaging	Het
Myo1h	A	G	5: 114,361,269	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,186,869	S135R	probably benign	Het
Nrbf2	A	G	10: 67,270,140	L41P	probably damaging	Het
Olfr108	T	A	17: 37,445,535	S5T	probably benign	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr514	A	G	7: 108,825,327	V224A	probably benign	Het
Olfr678	T	A	7: 105,070,388	M307K	probably benign	Het
Olfr782	A	G	10: 129,350,580	M6V	probably benign	Het
Otoa	T	C	7: 121,155,273		probably null	Het
Pih1d3	A	T	1: 31,223,429	D164V	probably damaging	Het
Plxnb1	T	C	9: 109,105,415		probably benign	Het
Ppp1r42	A	T	1: 10,003,233		probably null	Het
Rad54l2	T	A	9: 106,722,758	K100M	probably damaging	Het
Rnf112	T	A	11: 61,451,341	T308S	possibly damaging	Het
Scaper	T	C	9: 55,859,767	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,853,871	I796L	possibly damaging	Het
Shank3	T	C	15: 89,521,274	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,355,941	T6A	probably benign	Het
Slc14a2	A	T	18: 78,155,566	I783N	probably damaging	Het
Stat1	A	G	1: 52,147,370	D447G	possibly damaging	Het
Tekt3	T	G	11: 63,073,468	I208S	probably damaging	Het
Tenm3	A	T	8: 48,236,423	V2043E	probably damaging	Het
Tgm3	T	C	2: 130,024,494	Y111H	probably damaging	Het
Tph2	T	A	10: 115,079,759	R459*	probably null	Het
Vmn2r109	T	C	17: 20,541,409	Y562C	probably damaging	Het

Other mutations in 9430007A20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:9430007A20Rik	APN	4	144528549	missense	possibly damaging	0.85
IGL02736:9430007A20Rik	APN	4	144528637	missense	probably benign	0.15
IGL02928:9430007A20Rik	APN	4	144529232	missense	possibly damaging	0.93
IGL03236:9430007A20Rik	APN	4	144519916	missense	probably benign	0.00
R0023:9430007A20Rik	UTSW	4	144528997	missense	probably damaging	1.00
R0023:9430007A20Rik	UTSW	4	144528997	missense	probably damaging	1.00
R0304:9430007A20Rik	UTSW	4	144520049	missense	probably benign	0.44
R0320:9430007A20Rik	UTSW	4	144522420	missense	probably damaging	1.00
R0987:9430007A20Rik	UTSW	4	144519932	missense	possibly damaging	0.81
R1124:9430007A20Rik	UTSW	4	144528624	missense	probably benign	0.00
R1202:9430007A20Rik	UTSW	4	144523666	missense	probably benign	0.07
R1708:9430007A20Rik	UTSW	4	144519941	missense	probably benign	0.36
R2238:9430007A20Rik	UTSW	4	144519899	missense	possibly damaging	0.88
R2334:9430007A20Rik	UTSW	4	144528859	missense	probably damaging	1.00
R2351:9430007A20Rik	UTSW	4	144528778	missense	probably damaging	1.00
R4913:9430007A20Rik	UTSW	4	144528811	missense	possibly damaging	0.93
R5153:9430007A20Rik	UTSW	4	144522267	missense	probably benign	0.06
R6312:9430007A20Rik	UTSW	4	144528502	missense	probably benign
R6379:9430007A20Rik	UTSW	4	144522342	missense	probably benign	0.10
R7555:9430007A20Rik	UTSW	4	144522354	missense	probably damaging	0.99
R8077:9430007A20Rik	UTSW	4	144528556	missense	probably benign	0.20
Z1088:9430007A20Rik	UTSW	4	144528669	missense	probably damaging	1.00
Z1177:9430007A20Rik	UTSW	4	144528500	nonsense	probably null
Z1177:9430007A20Rik	UTSW	4	144528712	nonsense	probably null

Posted On

2013-11-18