Incidental Mutation 'R4415:Ace3'
| ID |
326803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ace3
|
| Ensembl Gene |
ENSMUSG00000101605 |
| Gene Name |
angiotensin I converting enzyme 3 |
| Synonyms |
EG217246 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
105885501-105896269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105895947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 631
(D631V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001965]
[ENSMUST00000106903]
[ENSMUST00000145539]
[ENSMUST00000190995]
|
| AlphaFold |
D0G895 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001965
|
| SMART Domains |
Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAS
|
13 |
87 |
2e-43 |
BLAST |
|
PAC
|
93 |
135 |
4.06e-2 |
SMART |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
173 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
256 |
523 |
6.8e-40 |
PFAM |
|
Pfam:Ion_trans_2
|
445 |
517 |
2.6e-13 |
PFAM |
|
cNMP
|
594 |
712 |
3.21e-23 |
SMART |
|
coiled coil region
|
782 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106903
|
| SMART Domains |
Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAS
|
13 |
87 |
3e-43 |
BLAST |
|
PAC
|
93 |
135 |
4.06e-2 |
SMART |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
258 |
280 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
302 |
420 |
6.2e-10 |
PFAM |
|
Pfam:Ion_trans_2
|
395 |
464 |
2.6e-9 |
PFAM |
|
cNMP
|
541 |
659 |
3.21e-23 |
SMART |
|
coiled coil region
|
729 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
859 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145539
|
| SMART Domains |
Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAS
|
13 |
87 |
3e-43 |
BLAST |
|
PAC
|
93 |
135 |
4.06e-2 |
SMART |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
302 |
511 |
1.4e-22 |
PFAM |
|
Pfam:Ion_trans_2
|
442 |
517 |
2e-13 |
PFAM |
|
cNMP
|
594 |
712 |
3.21e-23 |
SMART |
|
low complexity region
|
764 |
775 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190995
AA Change: D631V
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140827
Gene: ENSMUSG00000101605
AA Change: D631V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M2
|
25 |
616 |
2e-265 |
PFAM |
|
transmembrane domain
|
638 |
660 |
N/A |
INTRINSIC |
|
transmembrane domain
|
700 |
722 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit normal sperm number, motility, and fertilization ability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
| Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
| Impdh1 |
C |
T |
6: 29,209,221 (GRCm39) |
V49M |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
| Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,344,608 (GRCm39) |
S581P |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,754 (GRCm39) |
V54A |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,214 (GRCm39) |
Q606L |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,534,464 (GRCm39) |
N274K |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tacc3 |
T |
G |
5: 33,824,028 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
| Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
probably damaging |
Het |
|
| Other mutations in Ace3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1932:Ace3
|
UTSW |
11 |
105,895,436 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4074:Ace3
|
UTSW |
11 |
105,888,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5315:Ace3
|
UTSW |
11 |
105,885,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5325:Ace3
|
UTSW |
11 |
105,896,079 (GRCm39) |
missense |
probably benign |
|
|
R5846:Ace3
|
UTSW |
11 |
105,889,188 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5866:Ace3
|
UTSW |
11 |
105,888,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6122:Ace3
|
UTSW |
11 |
105,885,764 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6160:Ace3
|
UTSW |
11 |
105,885,558 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6815:Ace3
|
UTSW |
11 |
105,888,084 (GRCm39) |
nonsense |
probably null |
|
|
R8031:Ace3
|
UTSW |
11 |
105,888,924 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8179:Ace3
|
UTSW |
11 |
105,895,383 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8349:Ace3
|
UTSW |
11 |
105,885,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Ace3
|
UTSW |
11 |
105,885,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Ace3
|
UTSW |
11 |
105,886,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8780:Ace3
|
UTSW |
11 |
105,888,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:Ace3
|
UTSW |
11 |
105,889,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:Ace3
|
UTSW |
11 |
105,896,175 (GRCm39) |
missense |
probably benign |
|
|
R9287:Ace3
|
UTSW |
11 |
105,888,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Ace3
|
UTSW |
11 |
105,885,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9486:Ace3
|
UTSW |
11 |
105,896,219 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTGAGTTAGGTCACCTGAC -3'
(R):5'- AGCAGAAGCCACTGTTTCCG -3'
Sequencing Primer
(F):5'- ATGTCCCCTCTCACTGCAGG -3'
(R):5'- AGCCACTGTTTCCGGGCTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation