Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02184:2010111I01Rik'

284278

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2010111I01Rik

Ensembl Gene

ENSMUSG00000021458

Gene Name

RIKEN cDNA 2010111I01 gene

Synonyms

ApO, aminopeptidase O

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

IGL02184

Quality Score

Status

Chromosome

Chromosomal Location

62964893-63326096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63068111 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 399 (I399S)

Ref Sequence

ENSEMBL: ENSMUSP00000089148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021911] [ENSMUST00000091560]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021911
AA Change: I398S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: I398S

Domain	Start	End	E-Value	Type
low complexity region	143	154	N/A	INTRINSIC
Pfam:Peptidase_M1	221	359	5.4e-11	PFAM
Pfam:Peptidase_M1	385	558	2.3e-15	PFAM
Pfam:Peptidase_MA_2	453	613	1.3e-12	PFAM
Leuk-A4-hydro_C	675	821	3.02e-37	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091560
AA Change: I399S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: I399S

Domain	Start	End	E-Value	Type
low complexity region	143	154	N/A	INTRINSIC
Pfam:Peptidase_M1	220	359	2.7e-11	PFAM
Pfam:Peptidase_M1	386	561	1.9e-15	PFAM
Leuk-A4-hydro_C	676	822	3.02e-37	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000220863
AA Change: I290S

Predicted Effect

probably benign
Transcript: ENSMUST00000221676

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for one gene trapped allele are phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	C	T	3: 89,345,934		probably benign	Het
Antxr2	A	C	5: 97,977,595		probably null	Het
Atp8b3	A	C	10: 80,527,233		probably benign	Het
Brwd1	A	T	16: 96,013,829	M1417K	probably damaging	Het
Camk2d	A	T	3: 126,797,773	R297S	probably damaging	Het
Cntnap1	A	T	11: 101,178,365	H215L	probably damaging	Het
Cytip	T	C	2: 58,133,738	S357G	probably damaging	Het
Fancg	A	G	4: 43,006,872	Y273H	possibly damaging	Het
Fbxo36	A	G	1: 84,881,164	S57G	probably benign	Het
Fgf8	A	T	19: 45,737,216	L141Q	probably damaging	Het
Gm5039	T	C	12: 88,321,181	R101G	probably benign	Het
Gm765	T	C	6: 98,248,098	S75G	possibly damaging	Het
Grm5	C	T	7: 88,026,442	T388M	probably damaging	Het
Hipk1	A	G	3: 103,758,750	L589P	possibly damaging	Het
Kiz	T	C	2: 146,889,600	S337P	probably benign	Het
Lrrc37a	A	T	11: 103,497,609	I2330K	unknown	Het
Mdfic	T	A	6: 15,770,367	I124K	possibly damaging	Het
Mttp	A	G	3: 138,116,000		probably null	Het
Myom1	G	A	17: 71,072,137	S632N	possibly damaging	Het
Nlrp12	T	C	7: 3,240,464	K473E	probably damaging	Het
Nrp2	C	A	1: 62,718,940	C28*	probably null	Het
Nwd2	G	T	5: 63,805,677	G868V	probably damaging	Het
Olfr1134	A	G	2: 87,656,792	L43P	probably damaging	Het
Olfr1246	G	A	2: 89,590,293	T274I	probably damaging	Het
Olfr48	G	A	2: 89,844,385	A196V	probably damaging	Het
Pappa	A	T	4: 65,340,691	M1559L	possibly damaging	Het
Pmm2	T	A	16: 8,637,804	D10E	possibly damaging	Het
Polm	T	C	11: 5,830,137	Q300R	probably benign	Het
Prrc2b	T	A	2: 32,221,455	N1208K	probably benign	Het
Serpinb3c	T	C	1: 107,271,918	D291G	probably damaging	Het
Slc1a2	T	C	2: 102,748,544	F268S	probably damaging	Het
Slc26a4	A	G	12: 31,549,949	Y127H	probably damaging	Het
Slc29a4	A	G	5: 142,717,751	Y260C	probably damaging	Het
Sorbs3	C	T	14: 70,184,006		probably null	Het
Spen	T	C	4: 141,487,606	Y534C	unknown	Het
Tmem237	T	C	1: 59,120,111		probably null	Het
Tnfrsf21	A	T	17: 43,085,463	N546I	probably benign	Het
Tpgs2	T	A	18: 25,140,573	D177V	probably damaging	Het
Tpx2	C	T	2: 152,882,320	R339*	probably null	Het
Trim12c	T	C	7: 104,348,223	Y42C	probably benign	Het
Trip10	A	T	17: 57,257,272	E341V	probably damaging	Het
Trpm8	A	T	1: 88,330,694		probably null	Het
Ttc37	A	G	13: 76,111,691	K37E	probably damaging	Het
Ubr1	T	A	2: 120,900,508	I1221F	probably benign	Het
Ucp2	C	T	7: 100,499,322	A301V	probably benign	Het
Zfyve1	T	C	12: 83,558,693	I411V	probably benign	Het

Other mutations in 2010111I01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:2010111I01Rik	APN	13	63199500	splice site	probably benign
IGL00329:2010111I01Rik	APN	13	63191163	missense	probably damaging	1.00
IGL00336:2010111I01Rik	APN	13	63015423	missense	possibly damaging	0.78
IGL01384:2010111I01Rik	APN	13	63190476	splice site	probably benign
IGL01780:2010111I01Rik	APN	13	63210125	missense	probably benign	0.00
IGL01876:2010111I01Rik	APN	13	63190522	missense	probably damaging	1.00
IGL02096:2010111I01Rik	APN	13	63061089	missense	probably benign	0.04
IGL02166:2010111I01Rik	APN	13	63015453	missense	probably benign	0.02
R0139:2010111I01Rik	UTSW	13	63190484	missense	probably benign	0.01
R1209:2010111I01Rik	UTSW	13	63191064	unclassified	probably null
R1233:2010111I01Rik	UTSW	13	63199520	missense	probably damaging	0.96
R1756:2010111I01Rik	UTSW	13	63068061	missense	possibly damaging	0.95
R1786:2010111I01Rik	UTSW	13	63210149	missense	probably benign	0.00
R1861:2010111I01Rik	UTSW	13	63015783	missense	probably damaging	1.00
R2130:2010111I01Rik	UTSW	13	63210149	missense	probably benign	0.00
R2131:2010111I01Rik	UTSW	13	63210149	missense	probably benign	0.00
R3076:2010111I01Rik	UTSW	13	63240115	missense	probably damaging	0.96
R3702:2010111I01Rik	UTSW	13	63015330	missense	probably benign	0.01
R3912:2010111I01Rik	UTSW	13	63156706	nonsense	probably null
R4512:2010111I01Rik	UTSW	13	63156667	missense	probably damaging	0.99
R4593:2010111I01Rik	UTSW	13	63068092	missense	probably benign	0.01
R4596:2010111I01Rik	UTSW	13	63068092	missense	probably benign	0.01
R4597:2010111I01Rik	UTSW	13	63068092	missense	probably benign	0.01
R4616:2010111I01Rik	UTSW	13	63298751	missense	probably damaging	1.00
R4625:2010111I01Rik	UTSW	13	63068092	missense	probably benign	0.01
R4627:2010111I01Rik	UTSW	13	63068092	missense	probably benign	0.01
R4630:2010111I01Rik	UTSW	13	63068092	missense	probably benign	0.01
R4632:2010111I01Rik	UTSW	13	63068092	missense	probably benign	0.01
R4911:2010111I01Rik	UTSW	13	63170939	critical splice acceptor site	probably null
R5204:2010111I01Rik	UTSW	13	63033090	missense	probably benign	0.15
R5210:2010111I01Rik	UTSW	13	63068110	missense	probably benign	0.00
R5849:2010111I01Rik	UTSW	13	63015498	missense	probably benign	0.00
R5861:2010111I01Rik	UTSW	13	63298812	missense	probably damaging	1.00
R5960:2010111I01Rik	UTSW	13	63240273	missense	probably damaging	0.99
R6021:2010111I01Rik	UTSW	13	63061082	missense	probably damaging	1.00
R6048:2010111I01Rik	UTSW	13	63240325	missense	probably damaging	0.99
R6379:2010111I01Rik	UTSW	13	63068243	missense	probably damaging	0.97

Posted On

2015-04-16