Mutagenetix > Incidental Mutation

Incidental Mutation 'R4630:2010111I01Rik'

349135

Institutional Source

Beutler Lab

Gene Symbol

2010111I01Rik

Ensembl Gene

ENSMUSG00000021458

Gene Name

RIKEN cDNA 2010111I01 gene

Synonyms

ApO, aminopeptidase O

MMRRC Submission

041895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62964893-63326096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63068092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 393 (S393P)

Ref Sequence

ENSEMBL: ENSMUSP00000089148 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021911
AA Change: S392P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: S392P

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

probably benign
Transcript: ENSMUST00000091560
AA Change: S393P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: S393P

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: S284P

Predicted Effect

probably benign
Transcript: ENSMUST00000221676

Meta Mutation Damage Score

0.0778

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (74/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110001I22Rik	T	C	16: 13,677,414	S126P	probably damaging	Het
3110070M22Rik	A	T	13: 119,488,086		probably benign	Het
4833423E24Rik	C	A	2: 85,518,646	G41*	probably null	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
BC024139	T	G	15: 76,125,094	Q240P	probably benign	Het
Bckdha	A	T	7: 25,631,459	I44N	probably damaging	Het
Brpf1	T	C	6: 113,309,906	Y32H	probably damaging	Het
Catip	A	G	1: 74,368,913		probably benign	Het
Ccdc138	T	C	10: 58,573,655	L602P	probably damaging	Het
Cilp	A	T	9: 65,279,880	T1086S	probably benign	Het
Comp	A	T	8: 70,374,382	I58F	possibly damaging	Het
Crygs	T	C	16: 22,805,518	E113G	possibly damaging	Het
Dnmt3b	C	T	2: 153,670,315	R319*	probably null	Het
Eif3a	A	G	19: 60,769,928	I804T	unknown	Het
Eif3a	A	T	19: 60,777,986	H301Q	probably benign	Het
Elf3	A	T	1: 135,256,740		probably benign	Het
Gm10384	A	G	15: 36,871,773		noncoding transcript	Het
Gm11627	T	A	11: 102,578,831		probably benign	Het
Gpr183	A	T	14: 121,954,849	Y87N	probably damaging	Het
Gpr183	G	C	14: 121,954,850	Y86*	probably null	Het
Gpr26	T	C	7: 131,966,980	V18A	probably damaging	Het
Herc1	T	A	9: 66,433,714		probably null	Het
Hint2	C	T	4: 43,656,396		probably benign	Het
Jag1	A	T	2: 137,085,979	D837E	probably damaging	Het
Jmjd1c	C	A	10: 67,157,974	S78*	probably null	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lama1	T	A	17: 67,794,300	D1929E	probably benign	Het
Macf1	T	C	4: 123,473,639	K878R	possibly damaging	Het
Mboat4	T	C	8: 34,123,954	S182P	probably damaging	Het
Muc5b	A	T	7: 141,857,984	T1556S	unknown	Het
Myo1g	T	C	11: 6,519,047	Y85C	probably damaging	Het
Ncapd2	C	A	6: 125,179,233		probably null	Het
Nox3	T	C	17: 3,693,982	D96G	possibly damaging	Het
Olfr23	T	C	11: 73,940,996	L250P	probably damaging	Het
Olfr514	T	C	7: 108,825,595	M135V	probably damaging	Het
Olfr805	A	G	10: 129,723,481	L21P	probably damaging	Het
Pacs1	C	T	19: 5,156,356		probably null	Het
Pgm5	C	A	19: 24,834,746	G141*	probably null	Het
Pik3r4	A	G	9: 105,654,899	M557V	probably benign	Het
Pld4	T	A	12: 112,765,064	V217D	probably damaging	Het
Ppp1r3c	T	C	19: 36,733,515	E285G	probably benign	Het
Pradc1	T	A	6: 85,447,293	M24L	possibly damaging	Het
Prepl	T	C	17: 85,083,231	T100A	probably benign	Het
Rmi2	C	T	16: 10,886,209	T138I	probably benign	Het
Rtkn	A	T	6: 83,152,182	K540*	probably null	Het
Sag	C	A	1: 87,834,618	T335K	probably damaging	Het
Setd4	A	G	16: 93,591,226	L124P	probably benign	Het
Sh3gl2	A	G	4: 85,379,409	D208G	probably damaging	Het
Sult4a1	T	C	15: 84,105,578	T8A	possibly damaging	Het
Tert	A	G	13: 73,648,991	D1116G	probably damaging	Het
Tlr4	A	G	4: 66,839,240	E90G	probably benign	Het
Tmem123	T	C	9: 7,791,392	L164P	probably damaging	Het
Tmem246	C	G	4: 49,586,254	V305L	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trak1	G	A	9: 121,454,425	R419Q	probably benign	Het
Trp53bp1	G	T	2: 121,207,887	A1490D	probably damaging	Het
Ttc16	T	C	2: 32,775,377		probably benign	Het
Tyw5	T	A	1: 57,388,527	Q306L	probably damaging	Het
Ube2j2	T	A	4: 155,955,258	I14N	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Zar1	A	G	5: 72,580,906	V51A	probably benign	Het
Zbtb38	T	G	9: 96,688,851	N60T	probably damaging	Het
Zfp354a	T	C	11: 51,070,218	S417P	probably damaging	Het
Zfp410	A	T	12: 84,325,736	D112V	probably damaging	Het
Zfp518a	C	T	19: 40,912,979	Q451*	probably null	Het
Zfp64	T	C	2: 168,926,543	N383S	possibly damaging	Het
Zfp687	A	T	3: 95,012,488		probably null	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
IGL02184:2010111I01Rik	APN	13	63068111	missense	possibly damaging	0.50
PIT4378001:2010111I01Rik	UTSW	13	63015207	missense	probably damaging	1.00
R0139:2010111I01Rik	UTSW	13	63190484	missense	probably benign	0.01
R1209:2010111I01Rik	UTSW	13	63191064	splice site	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
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
R7038:2010111I01Rik	UTSW	13	63190525	missense	possibly damaging	0.54
R7493:2010111I01Rik	UTSW	13	63015531	missense	probably benign	0.01
R7788:2010111I01Rik	UTSW	13	63156593	missense	possibly damaging	0.89
R7970:2010111I01Rik	UTSW	13	63033160	missense	probably benign	0.11
R7988:2010111I01Rik	UTSW	13	63061140	missense	probably benign	0.00
R8041:2010111I01Rik	UTSW	13	63033107	missense	probably damaging	1.00
R8052:2010111I01Rik	UTSW	13	63068251	missense	probably damaging	1.00
R8053:2010111I01Rik	UTSW	13	63190531	nonsense	probably null
R8537:2010111I01Rik	UTSW	13	63190550	missense	probably damaging	1.00
R8554:2010111I01Rik	UTSW	13	63296897	missense	possibly damaging	0.94
R8681:2010111I01Rik	UTSW	13	63190559	missense	probably damaging	1.00
R8909:2010111I01Rik	UTSW	13	63240297	missense	possibly damaging	0.95
R8945:2010111I01Rik	UTSW	13	63240331	missense	probably null	1.00
R8990:2010111I01Rik	UTSW	13	63156614	missense	probably damaging	1.00
R9032:2010111I01Rik	UTSW	13	63296867	nonsense	probably null
R9049:2010111I01Rik	UTSW	13	63061038	missense	probably benign	0.00
R9166:2010111I01Rik	UTSW	13	63171048	critical splice donor site	probably null
R9590:2010111I01Rik	UTSW	13	63061109	missense	probably benign
Z1177:2010111I01Rik	UTSW	13	63170990	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTTCACTGCTGCCCAAAAGC -3'
(R):5'- AGCAGCATACCTGGCCATTC -3'

Sequencing Primer
(F):5'- CTGGGATTTGAACTCAGGACC -3'
(R):5'- TGGCCATTCCCAGACTTGG -3'

Posted On

2015-10-08