Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00941:Ace'

28551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ace

Ensembl Gene

ENSMUSG00000020681

Gene Name

angiotensin I converting enzyme

Synonyms

CD143

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

105858774-105880790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105870376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 265 (K265I)

Ref Sequence

ENSEMBL: ENSMUSP00000001964 (fasta)

Gene Model

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

AlphaFold

P09470

Predicted Effect

probably benign
Transcript: ENSMUST00000001963
AA Change: K845I

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681
AA Change: K845I

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
AA Change: K265I

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000001964
Gene: ENSMUSG00000020681
AA Change: K265I

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: K611I

SMART Domains

Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681
AA Change: K611I

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,536,104 (GRCm39)	I521S	probably damaging	Het
Acss3	A	G	10: 106,889,187 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,153,082 (GRCm39)	Y215H	probably damaging	Het
Clk2	A	G	3: 89,082,729 (GRCm39)	M393V	probably damaging	Het
Cyc1	A	G	15: 76,229,365 (GRCm39)	I242V	probably benign	Het
Evpl	G	A	11: 116,118,727 (GRCm39)	L657F	probably benign	Het
Fbxw10	G	A	11: 62,764,327 (GRCm39)	V675M	probably damaging	Het
Fgf21	A	G	7: 45,264,597 (GRCm39)	V45A	probably damaging	Het
Gm5134	T	C	10: 75,836,255 (GRCm39)	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,208,749 (GRCm39)		probably benign	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Ifna12	A	T	4: 88,521,551 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,389,856 (GRCm39)	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,307,794 (GRCm39)	V73I	probably benign	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Mical2	T	C	7: 111,920,652 (GRCm39)		probably benign	Het
Mllt1	A	T	17: 57,202,086 (GRCm39)	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,501,740 (GRCm39)	H141L	probably benign	Het
Septin4	G	T	11: 87,480,599 (GRCm39)	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,270,727 (GRCm39)	F550L	probably benign	Het
Ssb	T	A	2: 69,701,179 (GRCm39)		probably null	Het
Stk36	T	A	1: 74,663,093 (GRCm39)	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,471,808 (GRCm39)	A415T	probably benign	Het
Zfp839	C	A	12: 110,827,382 (GRCm39)	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,705,573 (GRCm39)	G95W	probably damaging	Het

Other mutations in Ace

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17