Mutagenetix > Incidental Mutation

Incidental Mutation 'R3025:Ace'

265804

Institutional Source

Beutler Lab

Gene Symbol

Ace

Ensembl Gene

ENSMUSG00000020681

Gene Name

angiotensin I converting enzyme

Synonyms

CD143

MMRRC Submission

040541-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105858774-105880790 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 105864919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P09470

Predicted Effect

probably null
Transcript: ENSMUST00000001963

SMART Domains

Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681

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: ENSMUST00000001963

SMART Domains

Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681

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 benign
Transcript: ENSMUST00000001964

SMART Domains

Protein: ENSMUSP00000001964
Gene: ENSMUSG00000020681

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

SMART Domains

Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681

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

probably null
Transcript: ENSMUST00000132280

SMART Domains

Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681

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

probably null
Transcript: ENSMUST00000132280

SMART Domains

Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	G	12: 53,186,926 (GRCm39)	T1447A	probably benign	Het
Atp13a2	C	T	4: 140,721,659 (GRCm39)	R250C	probably damaging	Het
Cacna1a	T	A	8: 85,306,854 (GRCm39)		probably null	Het
Chd6	GATCAT	GAT	2: 160,808,472 (GRCm39)		probably benign	Het
Cptp	T	C	4: 155,951,678 (GRCm39)	E5G	possibly damaging	Het
Dnajc16	C	A	4: 141,501,922 (GRCm39)	V303F	probably benign	Het
Gm10842	T	C	11: 105,037,902 (GRCm39)	S62P	unknown	Het
Gm17509	T	C	13: 117,357,112 (GRCm39)		probably benign	Het
Homer1	C	T	13: 93,538,582 (GRCm39)	Q142*	probably null	Het
Kcnb2	C	A	1: 15,781,059 (GRCm39)	Q644K	possibly damaging	Het
Map3k19	T	C	1: 127,766,290 (GRCm39)		probably null	Het
Msh4	T	A	3: 153,569,128 (GRCm39)	H621L	probably damaging	Het
Ogfod1	A	T	8: 94,789,680 (GRCm39)	E460D	probably damaging	Het
Or6c65	T	A	10: 129,603,542 (GRCm39)	F59Y	probably damaging	Het
Or8k41	A	T	2: 86,314,083 (GRCm39)	M1K	probably null	Het
Rp1	G	A	1: 4,422,898 (GRCm39)	R61W	probably damaging	Het
Scaf4	A	T	16: 90,048,826 (GRCm39)	H329Q	unknown	Het
Sec61a1	A	T	6: 88,489,202 (GRCm39)	D166E	probably damaging	Het
Tars2	C	T	3: 95,654,952 (GRCm39)	R63H	possibly damaging	Het
Vmn1r57	A	T	7: 5,223,714 (GRCm39)	K80*	probably null	Het
Vmn2r106	A	G	17: 20,499,147 (GRCm39)	W255R	probably benign	Het
Wdr49	C	G	3: 75,240,663 (GRCm39)	C402S	possibly 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
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
R6083:Ace	UTSW	11	105,876,093 (GRCm39)	nonsense	probably null
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'- TGTCCTCCTTCAGACCCAAG -3'
(R):5'- GACAGCTACCTGCAGAAACG -3'

Sequencing Primer
(F):5'- GGGTTGAGAGTCAGAATGCTCC -3'
(R):5'- GCTACCTGCAGAAACGACCTC -3'

Posted On

2015-02-05