Incidental Mutation 'R5388:Ace'
| ID |
425429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ace
|
| Ensembl Gene |
ENSMUSG00000020681 |
| Gene Name |
angiotensin I converting enzyme |
| Synonyms |
CD143 |
| MMRRC Submission |
042960-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
105858774-105880790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 105879284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 603
(P603Q)
|
| 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: P1183Q
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681
AA Change: P1183Q
| 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 |
possibly damaging
Transcript: ENSMUST00000001964
AA Change: P603Q
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001964
Gene: ENSMUSG00000020681
AA Change: P603Q
| 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: P949Q
|
| SMART Domains |
Protein: ENSMUSP00000119826
Gene: ENSMUSG00000020681
AA Change: P949Q
| 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 |
0.6733 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,139,969 (GRCm39) |
|
probably null |
Het |
| Acap2 |
C |
A |
16: 30,928,543 (GRCm39) |
C475F |
probably damaging |
Het |
| Adamts20 |
C |
G |
15: 94,243,659 (GRCm39) |
V657L |
possibly damaging |
Het |
| Antxr2 |
A |
G |
5: 98,125,458 (GRCm39) |
|
probably null |
Het |
| Atp6v1b2 |
G |
A |
8: 69,554,089 (GRCm39) |
V89I |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,353,542 (GRCm39) |
P676L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,654,276 (GRCm39) |
I649F |
probably damaging |
Het |
| Camta1 |
G |
T |
4: 151,159,695 (GRCm39) |
S490R |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,809,719 (GRCm39) |
I2221T |
probably damaging |
Het |
| Cfd |
A |
T |
10: 79,727,959 (GRCm39) |
D164V |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,495,384 (GRCm39) |
D278G |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,809,523 (GRCm39) |
L519F |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Cybrd1 |
T |
C |
2: 70,967,989 (GRCm39) |
|
probably null |
Het |
| Cyp2e1 |
T |
C |
7: 140,343,906 (GRCm39) |
L48P |
probably damaging |
Het |
| Eddm13 |
T |
C |
7: 6,269,346 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
| Exosc7 |
A |
T |
9: 122,947,972 (GRCm39) |
D47V |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,722,342 (GRCm39) |
F204L |
probably damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,560 (GRCm39) |
V81M |
probably benign |
Het |
| Gm12367 |
T |
C |
4: 35,235,690 (GRCm39) |
|
noncoding transcript |
Het |
| Grxcr1 |
C |
A |
5: 68,323,538 (GRCm39) |
T272K |
probably damaging |
Het |
| Kcna5 |
C |
T |
6: 126,511,859 (GRCm39) |
D90N |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,635 (GRCm39) |
Y618* |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,832,539 (GRCm39) |
H1670L |
possibly damaging |
Het |
| Mtus2 |
C |
T |
5: 148,243,518 (GRCm39) |
Q113* |
probably null |
Het |
| Ncam1 |
A |
C |
9: 49,456,054 (GRCm39) |
D521E |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,651,740 (GRCm39) |
H291R |
possibly damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,062,967 (GRCm39) |
N695H |
probably damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,164,733 (GRCm39) |
Q1105H |
probably damaging |
Het |
| Paxip1 |
C |
G |
5: 27,986,453 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,583,695 (GRCm39) |
W136R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,741,856 (GRCm39) |
T175A |
possibly damaging |
Het |
| Pkn3 |
T |
A |
2: 29,971,086 (GRCm39) |
S222T |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,898,338 (GRCm39) |
I98N |
probably damaging |
Het |
| Ppfibp1 |
T |
G |
6: 146,917,828 (GRCm39) |
S484A |
probably damaging |
Het |
| Ppp1r7 |
T |
C |
1: 93,280,312 (GRCm39) |
F127L |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,954 (GRCm39) |
Y210H |
probably benign |
Het |
| Rad21l |
C |
T |
2: 151,495,403 (GRCm39) |
V427I |
probably benign |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rnf225 |
A |
G |
7: 12,661,932 (GRCm39) |
D37G |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,363,967 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,119,561 (GRCm39) |
Q4483R |
probably damaging |
Het |
| Tmem38b |
C |
T |
4: 53,859,945 (GRCm39) |
R242W |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,603,158 (GRCm39) |
K1035I |
possibly damaging |
Het |
| Trhr |
T |
C |
15: 44,060,873 (GRCm39) |
I131T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,819,294 (GRCm39) |
D252G |
probably benign |
Het |
| Usp14 |
C |
T |
18: 10,018,023 (GRCm39) |
E90K |
probably damaging |
Het |
| Yme1l1 |
T |
G |
2: 23,052,569 (GRCm39) |
D74E |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,990,092 (GRCm39) |
L732Q |
possibly damaging |
Het |
| Zbbx |
G |
T |
3: 74,990,977 (GRCm39) |
A289D |
probably damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,446 (GRCm39) |
V1499I |
possibly damaging |
Het |
| Zfp622 |
T |
C |
15: 25,996,285 (GRCm39) |
V184A |
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 |
|
|
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 |
|
|
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'- CTTGACATGACACCTCCAGG -3'
(R):5'- CAGCCCTATATGAGCTCTAGGAG -3'
Sequencing Primer
(F):5'- AGGACCCTGGAGTTCCTG -3'
(R):5'- TCTAGGAGCTGGGCCCG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation