Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:Ace'

482324

Institutional Source

Beutler Lab

Gene Symbol

Ace

Ensembl Gene

ENSMUSG00000020681

Gene Name

angiotensin I converting enzyme

Synonyms

CD143

MMRRC Submission

044242-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105858774-105880790 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 105876093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 816 (Y816*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001963] [ENSMUST00000001964]

AlphaFold

P09470

Predicted Effect

probably null
Transcript: ENSMUST00000001963
AA Change: Y1050*

SMART Domains

Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681
AA Change: Y1050*

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:Peptidase_M2	45	628	7.1e-257	PFAM
Pfam:Peptidase_M2	648	1226	8.9e-261	PFAM
transmembrane domain	1264	1286	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000001964
AA Change: Y470*

SMART Domains

Protein: ENSMUSP00000001964
Gene: ENSMUSG00000020681
AA Change: Y470*

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Peptidase_M2	59	653	N/A	PFAM
transmembrane domain	684	706	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130673

Predicted Effect

probably null
Transcript: ENSMUST00000132280
AA Change: Y816*

SMART Domains

Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681
AA Change: Y816*

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M2	1	395	2.4e-201	PFAM
Pfam:Peptidase_M2	415	993	1.4e-261	PFAM
low complexity region	999	1014	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152925

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a number of different targeted mutations show variable phenotypes, including reduced systemic blood pressure, normocytic anemia, renal abnormalities, inability to concentrate urine, and reduced male fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,769,677 (GRCm39)	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,940,978 (GRCm39)	I591F	unknown	Het
Ahnak2	A	G	12: 112,746,715 (GRCm39)	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,746,589 (GRCm39)	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,557,175 (GRCm39)	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,786,397 (GRCm39)	T257A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,454,123 (GRCm39)	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,602,191 (GRCm39)	R305H	probably damaging	Het
Cyb5r4	C	T	9: 86,939,221 (GRCm39)	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,062,206 (GRCm39)	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,837,900 (GRCm39)	V394E	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Defb36	A	T	2: 152,446,408 (GRCm39)	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713 (GRCm39)	D263G	probably benign	Het
Dock10	T	C	1: 80,510,148 (GRCm39)	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,672,328 (GRCm39)		probably null	Het
Eif3e	A	G	15: 43,129,540 (GRCm39)	I196T	probably damaging	Het
Ercc4	T	A	16: 12,927,903 (GRCm39)	C24*	probably null	Het
Fmn1	A	G	2: 113,194,648 (GRCm39)	E116G	unknown	Het
Gnas	A	G	2: 174,139,655 (GRCm39)	M1V	probably null	Het
Grin2a	C	A	16: 9,397,404 (GRCm39)	M894I	probably benign	Het
Herc2	G	T	7: 55,878,253 (GRCm39)	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,631,044 (GRCm39)	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,631,045 (GRCm39)	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,619,372 (GRCm39)	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Itih2	T	C	2: 10,113,705 (GRCm39)		probably benign	Het
Itsn1	T	C	16: 91,649,899 (GRCm39)	L191P	probably benign	Het
Kdr	T	C	5: 76,105,026 (GRCm39)	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,119,574 (GRCm39)	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,966,385 (GRCm39)	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,438,317 (GRCm39)	R38*	probably null	Het
Med13l	T	C	5: 118,859,551 (GRCm39)	V246A	possibly damaging	Het
Mlec	T	A	5: 115,286,108 (GRCm39)	T248S	probably benign	Het
Mslnl	T	A	17: 25,956,876 (GRCm39)	V54D	possibly damaging	Het
Muc16	G	A	9: 18,568,508 (GRCm39)	T1337I	unknown	Het
Nek7	C	T	1: 138,443,392 (GRCm39)	S187N	probably damaging	Het
Neto2	A	G	8: 86,367,214 (GRCm39)	V538A	probably benign	Het
Nktr	T	C	9: 121,579,202 (GRCm39)		probably benign	Het
Npy6r	A	G	18: 44,409,559 (GRCm39)	K327E	probably damaging	Het
Or2ag1	A	G	7: 106,472,789 (GRCm39)	I221T	probably damaging	Het
Or3a1c	A	G	11: 74,046,396 (GRCm39)	M139V	possibly damaging	Het
Or4a72	T	C	2: 89,406,016 (GRCm39)	D18G	probably benign	Het
Or4c123	T	A	2: 89,127,368 (GRCm39)	D82V	probably damaging	Het
Or5b109	A	T	19: 13,211,889 (GRCm39)	I92F	probably benign	Het
Pcdhga4	A	T	18: 37,820,478 (GRCm39)	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,152,086 (GRCm39)	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,281,399 (GRCm39)	Y486*	probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Rbm12	G	A	2: 155,939,646 (GRCm39)		probably benign	Het
Rgs19	T	C	2: 181,331,300 (GRCm39)	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,160,066 (GRCm39)	N145S	probably damaging	Het
Rnf4	T	A	5: 34,508,565 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,205,737 (GRCm39)	T207A	probably damaging	Het
Rufy4	A	C	1: 74,168,556 (GRCm39)	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,372,985 (GRCm39)	S717R	probably benign	Het
Sin3a	A	T	9: 57,014,824 (GRCm39)	I682F	probably damaging	Het
Sipa1l2	A	T	8: 126,195,212 (GRCm39)	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,431 (GRCm39)	I23V	unknown	Het
Slitrk5	A	G	14: 111,919,157 (GRCm39)	N927S	probably benign	Het
Smc6	A	G	12: 11,326,354 (GRCm39)	K117R	possibly damaging	Het
Sod2	G	A	17: 13,226,918 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,686,030 (GRCm39)	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,038,206 (GRCm39)	L209F	probably damaging	Het
Tll1	G	T	8: 64,491,620 (GRCm39)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Trim30b	A	G	7: 104,015,349 (GRCm39)	V13A	probably damaging	Het
Trip11	G	A	12: 101,856,001 (GRCm39)	T425I	probably benign	Het
Ttn	C	A	2: 76,720,317 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ush2a	T	A	1: 187,999,220 (GRCm39)	S177T	probably damaging	Het
Usp40	A	T	1: 87,906,281 (GRCm39)	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,006,644 (GRCm39)	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,538,928 (GRCm39)	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,199,317 (GRCm39)	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,315,808 (GRCm39)	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,055,711 (GRCm39)	I809N	probably damaging	Het
Wdr7	G	A	18: 63,861,540 (GRCm39)	G184D	probably damaging	Het
Wnk1	C	T	6: 120,014,562 (GRCm39)	G11D	probably damaging	Het
Zfp110	A	C	7: 12,578,602 (GRCm39)	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,706,757 (GRCm39)	V134A	probably damaging	Het

Other mutations in Ace

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Ace	APN	11	105,870,376 (GRCm39)	missense	probably benign	0.21
IGL01105:Ace	APN	11	105,862,885 (GRCm39)	missense	probably damaging	1.00
IGL01761:Ace	APN	11	105,870,319 (GRCm39)	missense	possibly damaging	0.70
IGL01888:Ace	APN	11	105,859,770 (GRCm39)	missense	probably benign
IGL02173:Ace	APN	11	105,879,817 (GRCm39)	missense	probably benign	0.04
IGL02179:Ace	APN	11	105,860,615 (GRCm39)	missense	probably benign	0.16
IGL02331:Ace	APN	11	105,862,170 (GRCm39)	missense	possibly damaging	0.61
IGL02333:Ace	APN	11	105,862,273 (GRCm39)	missense	probably benign
IGL02556:Ace	APN	11	105,863,353 (GRCm39)	missense	probably damaging	1.00
IGL02576:Ace	APN	11	105,864,937 (GRCm39)	missense	probably damaging	1.00
IGL03202:Ace	APN	11	105,867,788 (GRCm39)	missense	probably damaging	1.00
R0403:Ace	UTSW	11	105,864,706 (GRCm39)	splice site	probably null
R0709:Ace	UTSW	11	105,872,364 (GRCm39)	missense	probably damaging	0.97
R1555:Ace	UTSW	11	105,865,727 (GRCm39)	splice site	probably null
R1603:Ace	UTSW	11	105,862,925 (GRCm39)	missense	probably benign	0.23
R1644:Ace	UTSW	11	105,875,932 (GRCm39)	missense	probably damaging	1.00
R1834:Ace	UTSW	11	105,876,920 (GRCm39)	splice site	probably benign
R2074:Ace	UTSW	11	105,867,449 (GRCm39)	nonsense	probably null
R3025:Ace	UTSW	11	105,864,919 (GRCm39)	splice site	probably null
R3176:Ace	UTSW	11	105,867,528 (GRCm39)	missense	probably null	1.00
R3276:Ace	UTSW	11	105,867,528 (GRCm39)	missense	probably null	1.00
R3977:Ace	UTSW	11	105,872,664 (GRCm39)	missense	possibly damaging	0.96
R4506:Ace	UTSW	11	105,867,492 (GRCm39)	missense	probably damaging	0.98
R4598:Ace	UTSW	11	105,872,585 (GRCm39)	splice site	probably null
R4914:Ace	UTSW	11	105,870,423 (GRCm39)	missense	probably damaging	1.00
R4968:Ace	UTSW	11	105,872,679 (GRCm39)	missense	possibly damaging	0.93
R5137:Ace	UTSW	11	105,865,652 (GRCm39)	missense	probably damaging	1.00
R5274:Ace	UTSW	11	105,858,863 (GRCm39)	missense	probably benign
R5332:Ace	UTSW	11	105,864,705 (GRCm39)	critical splice donor site	probably null
R5388:Ace	UTSW	11	105,879,284 (GRCm39)	missense	possibly damaging	0.85
R5425:Ace	UTSW	11	105,864,254 (GRCm39)	missense	probably damaging	1.00
R5640:Ace	UTSW	11	105,861,511 (GRCm39)	missense	probably damaging	1.00
R5838:Ace	UTSW	11	105,863,706 (GRCm39)	missense	probably benign	0.00
R6041:Ace	UTSW	11	105,866,134 (GRCm39)	missense	probably benign	0.27
R6106:Ace	UTSW	11	105,879,838 (GRCm39)	missense	probably damaging	1.00
R6225:Ace	UTSW	11	105,870,445 (GRCm39)	missense	possibly damaging	0.51
R6607:Ace	UTSW	11	105,863,203 (GRCm39)	missense	possibly damaging	0.82
R6918:Ace	UTSW	11	105,863,769 (GRCm39)	missense	probably damaging	1.00
R7330:Ace	UTSW	11	105,876,887 (GRCm39)	missense	probably damaging	1.00
R7471:Ace	UTSW	11	105,864,308 (GRCm39)	missense	probably damaging	1.00
R7709:Ace	UTSW	11	105,879,663 (GRCm39)	missense	probably benign	0.01
R7800:Ace	UTSW	11	105,876,884 (GRCm39)	missense	probably damaging	1.00
R7855:Ace	UTSW	11	105,863,205 (GRCm39)	missense	probably benign	0.05
R7947:Ace	UTSW	11	105,863,880 (GRCm39)	missense	possibly damaging	0.81
R8063:Ace	UTSW	11	105,862,190 (GRCm39)	missense	possibly damaging	0.90
R8072:Ace	UTSW	11	105,863,785 (GRCm39)	missense	probably damaging	0.98
R8412:Ace	UTSW	11	105,870,092 (GRCm39)	missense	probably benign
R8544:Ace	UTSW	11	105,862,116 (GRCm39)	critical splice acceptor site	probably null
R8695:Ace	UTSW	11	105,875,971 (GRCm39)	missense	probably benign	0.00
R8731:Ace	UTSW	11	105,861,426 (GRCm39)	missense	possibly damaging	0.93
R8855:Ace	UTSW	11	105,861,424 (GRCm39)	nonsense	probably null
R9087:Ace	UTSW	11	105,872,745 (GRCm39)	missense	probably damaging	1.00
R9149:Ace	UTSW	11	105,863,299 (GRCm39)	missense	possibly damaging	0.57
R9347:Ace	UTSW	11	105,864,958 (GRCm39)	missense	probably damaging	1.00
R9590:Ace	UTSW	11	105,876,506 (GRCm39)	missense	probably benign	0.01
X0018:Ace	UTSW	11	105,862,210 (GRCm39)	missense	probably damaging	1.00
X0063:Ace	UTSW	11	105,866,464 (GRCm39)	missense	probably benign	0.07
Z1177:Ace	UTSW	11	105,878,960 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACTTGGTGATAGCGCAC -3'
(R):5'- GAAGGTGCTGAATCTCTTCATCC -3'

Posted On

2017-07-14