Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Ace'

62670

Institutional Source

Beutler Lab

Gene Symbol

Ace

Ensembl Gene

ENSMUSG00000020681

Gene Name

angiotensin I converting enzyme (peptidyl-dipeptidase A) 1

Synonyms

CD143

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0709 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

105967945-105989964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105981538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 319 (L319F)

Ref Sequence

ENSEMBL: ENSMUSP00000001964 (fasta)

Gene Model

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

AlphaFold

P09470

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001963
AA Change: L899F

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681
AA Change: L899F

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 damaging
Transcript: ENSMUST00000001964
AA Change: L319F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001964
Gene: ENSMUSG00000020681
AA Change: L319F

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

unknown
Transcript: ENSMUST00000132280
AA Change: L665F

SMART Domains

Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681
AA Change: L665F

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

0.5810

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in Ace

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Ace	APN	11	105979550	missense	probably benign	0.21
IGL01105:Ace	APN	11	105972059	missense	probably damaging	1.00
IGL01761:Ace	APN	11	105979493	missense	possibly damaging	0.70
IGL01888:Ace	APN	11	105968944	missense	probably benign
IGL02173:Ace	APN	11	105988991	missense	probably benign	0.04
IGL02179:Ace	APN	11	105969789	missense	probably benign	0.16
IGL02331:Ace	APN	11	105971344	missense	possibly damaging	0.61
IGL02333:Ace	APN	11	105971447	missense	probably benign
IGL02556:Ace	APN	11	105972527	missense	probably damaging	1.00
IGL02576:Ace	APN	11	105974111	missense	probably damaging	1.00
IGL03202:Ace	APN	11	105976962	missense	probably damaging	1.00
R0403:Ace	UTSW	11	105973880	splice site	probably null
R1555:Ace	UTSW	11	105974901	splice site	probably null
R1603:Ace	UTSW	11	105972099	missense	probably benign	0.23
R1644:Ace	UTSW	11	105985106	missense	probably damaging	1.00
R1834:Ace	UTSW	11	105986094	splice site	probably benign
R2074:Ace	UTSW	11	105976623	nonsense	probably null
R3025:Ace	UTSW	11	105974093	splice site	probably null
R3176:Ace	UTSW	11	105976702	missense	probably null	1.00
R3276:Ace	UTSW	11	105976702	missense	probably null	1.00
R3977:Ace	UTSW	11	105981838	missense	possibly damaging	0.96
R4506:Ace	UTSW	11	105976666	missense	probably damaging	0.98
R4598:Ace	UTSW	11	105981759	splice site	probably null
R4914:Ace	UTSW	11	105979597	missense	probably damaging	1.00
R4968:Ace	UTSW	11	105981853	missense	possibly damaging	0.93
R5137:Ace	UTSW	11	105974826	missense	probably damaging	1.00
R5274:Ace	UTSW	11	105968037	missense	probably benign
R5332:Ace	UTSW	11	105973879	critical splice donor site	probably null
R5388:Ace	UTSW	11	105988458	missense	possibly damaging	0.85
R5425:Ace	UTSW	11	105973428	missense	probably damaging	1.00
R5640:Ace	UTSW	11	105970685	missense	probably damaging	1.00
R5838:Ace	UTSW	11	105972880	missense	probably benign	0.00
R6041:Ace	UTSW	11	105975308	missense	probably benign	0.27
R6083:Ace	UTSW	11	105985267	nonsense	probably null
R6106:Ace	UTSW	11	105989012	missense	probably damaging	1.00
R6225:Ace	UTSW	11	105979619	missense	possibly damaging	0.51
R6607:Ace	UTSW	11	105972377	missense	possibly damaging	0.82
R6918:Ace	UTSW	11	105972943	missense	probably damaging	1.00
R7330:Ace	UTSW	11	105986061	missense	probably damaging	1.00
R7471:Ace	UTSW	11	105973482	missense	probably damaging	1.00
R7709:Ace	UTSW	11	105988837	missense	probably benign	0.01
R7800:Ace	UTSW	11	105986058	missense	probably damaging	1.00
R7855:Ace	UTSW	11	105972379	missense	probably benign	0.05
R7947:Ace	UTSW	11	105973054	missense	possibly damaging	0.81
R8063:Ace	UTSW	11	105971364	missense	possibly damaging	0.90
R8072:Ace	UTSW	11	105972959	missense	probably damaging	0.98
R8412:Ace	UTSW	11	105979266	missense	probably benign
R8544:Ace	UTSW	11	105971290	critical splice acceptor site	probably null
R8695:Ace	UTSW	11	105985145	missense	probably benign	0.00
R8731:Ace	UTSW	11	105970600	missense	possibly damaging	0.93
R8855:Ace	UTSW	11	105970598	nonsense	probably null
R9087:Ace	UTSW	11	105981919	missense	probably damaging	1.00
R9149:Ace	UTSW	11	105972473	missense	possibly damaging	0.57
R9347:Ace	UTSW	11	105974132	missense	probably damaging	1.00
R9590:Ace	UTSW	11	105985680	missense	probably benign	0.01
X0018:Ace	UTSW	11	105971384	missense	probably damaging	1.00
X0063:Ace	UTSW	11	105975638	missense	probably benign	0.07
Z1177:Ace	UTSW	11	105988134	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGGAGACATGCACATCAAATACC -3'
(R):5'- TCCTTGCCGTTGTAGAAGTCCCAG -3'

Sequencing Primer
(F):5'- ATACCCAGCACCGTTTGC -3'
(R):5'- ACTTGTTCCAGAACTCAGGG -3'

Posted On

2013-07-30