Incidental Mutation 'IGL02470:Adcy10'
| ID |
294681 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adcy10
|
| Ensembl Gene |
ENSMUSG00000026567 |
| Gene Name |
adenylate cyclase 10 |
| Synonyms |
sAC, Sacy, soluble adenylyl cyclase |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.376)
|
| Stock # |
IGL02470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165485183-165576774 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165567726 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1422
(Y1422C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027852]
[ENSMUST00000111439]
[ENSMUST00000111440]
[ENSMUST00000148550]
[ENSMUST00000155216]
|
| AlphaFold |
Q8C0T9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027852
AA Change: Y1422C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: Y1422C
| Domain | Start | End | E-Value | Type |
|---|
|
CYCc
|
7 |
206 |
3.27e-3 |
SMART |
|
Pfam:Guanylate_cyc
|
285 |
442 |
2.3e-12 |
PFAM |
|
low complexity region
|
838 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
922 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
|
Blast:TPR
|
1295 |
1328 |
6e-9 |
BLAST |
|
Blast:TPR
|
1510 |
1543 |
6e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111439
AA Change: Y1422C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: Y1422C
| Domain | Start | End | E-Value | Type |
|---|
|
CYCc
|
7 |
206 |
3.27e-3 |
SMART |
|
Pfam:Guanylate_cyc
|
286 |
420 |
1.9e-12 |
PFAM |
|
low complexity region
|
838 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
922 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
|
Blast:TPR
|
1295 |
1328 |
6e-9 |
BLAST |
|
Blast:TPR
|
1510 |
1543 |
7e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111440
AA Change: Y1422C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: Y1422C
| Domain | Start | End | E-Value | Type |
|---|
|
CYCc
|
7 |
206 |
3.27e-3 |
SMART |
|
Pfam:Guanylate_cyc
|
286 |
420 |
1.9e-12 |
PFAM |
|
low complexity region
|
838 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
922 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
|
Blast:TPR
|
1295 |
1328 |
6e-9 |
BLAST |
|
Blast:TPR
|
1510 |
1543 |
7e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148550
|
| SMART Domains |
Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
| Domain | Start | End | E-Value | Type |
|---|
|
CYCc
|
7 |
206 |
3.27e-3 |
SMART |
|
Pfam:Guanylate_cyc
|
285 |
420 |
4.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155216
|
| SMART Domains |
Protein: ENSMUSP00000137744
Gene: ENSMUSG00000026567
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4OZ3|A
|
1 |
98 |
2e-51 |
PDB |
|
Blast:CYCc
|
7 |
98 |
2e-61 |
BLAST |
|
SCOP:d1azsb_
|
43 |
98 |
9e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158666
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193149
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null male mutants are infertile with a severe sperm motility defect, female null mutants are fertile. Females exhibit increased cholesterol and triglyceride levels while both sexes have a slight increase in heart rate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010F05Rik |
A |
T |
11: 23,615,222 |
M255K |
probably damaging |
Het |
| Adnp |
T |
A |
2: 168,183,194 |
K727I |
probably damaging |
Het |
| Akr1c21 |
A |
T |
13: 4,577,407 |
N167Y |
probably damaging |
Het |
| Arl4a |
T |
C |
12: 40,036,748 |
|
probably benign |
Het |
| BB014433 |
A |
T |
8: 15,042,803 |
F17I |
unknown |
Het |
| Best1 |
T |
C |
19: 9,992,976 |
S91G |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 59,001,899 |
S235T |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,798,729 |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,401,492 |
G219V |
probably damaging |
Het |
| Dcc |
A |
T |
18: 71,955,082 |
|
probably benign |
Het |
| Dnajc13 |
G |
A |
9: 104,175,747 |
T1672I |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,255,012 |
F325Y |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,839,460 |
L880P |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,461,720 |
Y646H |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 39,036,557 |
|
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,527,513 |
|
probably benign |
Het |
| Mast1 |
C |
A |
8: 84,921,212 |
G511V |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,704,621 |
I424M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 120,168,006 |
T68A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,218,046 |
E1006G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 172,082,599 |
|
probably null |
Het |
| Olfr1089 |
A |
T |
2: 86,733,585 |
V9E |
probably damaging |
Het |
| Olfr340 |
A |
G |
2: 36,452,597 |
D4G |
probably benign |
Het |
| Phip |
A |
T |
9: 82,890,454 |
V1075D |
possibly damaging |
Het |
| Serpinb1a |
C |
T |
13: 32,850,393 |
S5N |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,853,170 |
N295S |
probably benign |
Het |
| Trmt13 |
A |
C |
3: 116,590,228 |
|
probably null |
Het |
| Trp63 |
A |
C |
16: 25,820,384 |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,914,617 |
G997R |
probably damaging |
Het |
|
| Other mutations in Adcy10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Adcy10
|
APN |
1 |
165551914 |
missense |
probably benign |
0.45 |
|
IGL00731:Adcy10
|
APN |
1 |
165572614 |
missense |
probably benign |
|
|
IGL01099:Adcy10
|
APN |
1 |
165539842 |
missense |
probably benign |
0.21 |
|
IGL01464:Adcy10
|
APN |
1 |
165546587 |
missense |
probably damaging |
1.00 |
|
IGL01729:Adcy10
|
APN |
1 |
165513168 |
critical splice donor site |
probably null |
|
|
IGL02002:Adcy10
|
APN |
1 |
165521843 |
missense |
probably damaging |
1.00 |
|
IGL02094:Adcy10
|
APN |
1 |
165570620 |
missense |
probably damaging |
1.00 |
|
IGL02132:Adcy10
|
APN |
1 |
165572543 |
missense |
probably damaging |
0.96 |
|
IGL02276:Adcy10
|
APN |
1 |
165559128 |
missense |
probably damaging |
0.96 |
|
IGL02408:Adcy10
|
APN |
1 |
165538380 |
missense |
probably damaging |
1.00 |
|
IGL02410:Adcy10
|
APN |
1 |
165510408 |
missense |
probably damaging |
1.00 |
|
IGL02445:Adcy10
|
APN |
1 |
165570744 |
missense |
possibly damaging |
0.85 |
|
IGL02551:Adcy10
|
APN |
1 |
165543233 |
missense |
probably damaging |
1.00 |
|
IGL02606:Adcy10
|
APN |
1 |
165519518 |
missense |
possibly damaging |
0.88 |
|
IGL02609:Adcy10
|
APN |
1 |
165538475 |
nonsense |
probably null |
|
|
Bugged
|
UTSW |
1 |
165564237 |
missense |
probably damaging |
0.99 |
|
debye
|
UTSW |
1 |
165551361 |
critical splice donor site |
probably null |
|
|
malaysian
|
UTSW |
1 |
165513127 |
missense |
probably benign |
0.38 |
|
singaporean
|
UTSW |
1 |
165518312 |
missense |
probably damaging |
0.98 |
|
PIT4514001:Adcy10
|
UTSW |
1 |
165556791 |
missense |
probably benign |
0.28 |
|
R0046:Adcy10
|
UTSW |
1 |
165539834 |
missense |
probably damaging |
0.99 |
|
R0046:Adcy10
|
UTSW |
1 |
165539834 |
missense |
probably damaging |
0.99 |
|
R0276:Adcy10
|
UTSW |
1 |
165572591 |
missense |
possibly damaging |
0.88 |
|
R0324:Adcy10
|
UTSW |
1 |
165564249 |
missense |
probably benign |
0.00 |
|
R0433:Adcy10
|
UTSW |
1 |
165552022 |
missense |
probably damaging |
1.00 |
|
R0454:Adcy10
|
UTSW |
1 |
165570728 |
missense |
probably damaging |
1.00 |
|
R0501:Adcy10
|
UTSW |
1 |
165510390 |
missense |
probably damaging |
1.00 |
|
R0513:Adcy10
|
UTSW |
1 |
165519519 |
missense |
probably benign |
0.04 |
|
R0533:Adcy10
|
UTSW |
1 |
165564023 |
missense |
probably benign |
0.05 |
|
R0550:Adcy10
|
UTSW |
1 |
165565315 |
missense |
probably benign |
0.00 |
|
R0554:Adcy10
|
UTSW |
1 |
165513130 |
missense |
probably benign |
|
|
R0597:Adcy10
|
UTSW |
1 |
165525062 |
critical splice donor site |
probably null |
|
|
R0629:Adcy10
|
UTSW |
1 |
165543105 |
missense |
probably damaging |
1.00 |
|
R1421:Adcy10
|
UTSW |
1 |
165563947 |
missense |
probably damaging |
0.98 |
|
R1454:Adcy10
|
UTSW |
1 |
165515380 |
missense |
possibly damaging |
0.66 |
|
R1524:Adcy10
|
UTSW |
1 |
165518403 |
missense |
probably damaging |
1.00 |
|
R1534:Adcy10
|
UTSW |
1 |
165518312 |
missense |
probably damaging |
0.98 |
|
R1594:Adcy10
|
UTSW |
1 |
165525033 |
missense |
probably benign |
0.02 |
|
R1690:Adcy10
|
UTSW |
1 |
165519925 |
missense |
probably damaging |
1.00 |
|
R1842:Adcy10
|
UTSW |
1 |
165503243 |
missense |
probably damaging |
1.00 |
|
R1859:Adcy10
|
UTSW |
1 |
165521961 |
missense |
probably damaging |
1.00 |
|
R1885:Adcy10
|
UTSW |
1 |
165570808 |
missense |
probably benign |
0.02 |
|
R1929:Adcy10
|
UTSW |
1 |
165510297 |
missense |
probably damaging |
1.00 |
|
R2005:Adcy10
|
UTSW |
1 |
165525022 |
missense |
probably benign |
0.02 |
|
R2211:Adcy10
|
UTSW |
1 |
165518212 |
missense |
probably damaging |
1.00 |
|
R2225:Adcy10
|
UTSW |
1 |
165518260 |
missense |
probably damaging |
1.00 |
|
R2227:Adcy10
|
UTSW |
1 |
165518260 |
missense |
probably damaging |
1.00 |
|
R2272:Adcy10
|
UTSW |
1 |
165510297 |
missense |
probably damaging |
1.00 |
|
R2421:Adcy10
|
UTSW |
1 |
165558597 |
missense |
probably damaging |
0.97 |
|
R3614:Adcy10
|
UTSW |
1 |
165575727 |
missense |
probably benign |
0.38 |
|
R4538:Adcy10
|
UTSW |
1 |
165513127 |
missense |
probably benign |
0.38 |
|
R4644:Adcy10
|
UTSW |
1 |
165551361 |
critical splice donor site |
probably null |
|
|
R4649:Adcy10
|
UTSW |
1 |
165504049 |
missense |
probably damaging |
1.00 |
|
R4832:Adcy10
|
UTSW |
1 |
165506644 |
missense |
probably damaging |
1.00 |
|
R4853:Adcy10
|
UTSW |
1 |
165548213 |
missense |
probably benign |
|
|
R4916:Adcy10
|
UTSW |
1 |
165518246 |
missense |
probably damaging |
1.00 |
|
R4951:Adcy10
|
UTSW |
1 |
165563963 |
missense |
probably damaging |
1.00 |
|
R4972:Adcy10
|
UTSW |
1 |
165556862 |
missense |
probably damaging |
1.00 |
|
R5116:Adcy10
|
UTSW |
1 |
165519500 |
missense |
probably damaging |
1.00 |
|
R5377:Adcy10
|
UTSW |
1 |
165519895 |
missense |
probably damaging |
1.00 |
|
R5442:Adcy10
|
UTSW |
1 |
165513140 |
missense |
probably benign |
0.43 |
|
R5692:Adcy10
|
UTSW |
1 |
165515306 |
missense |
probably benign |
0.36 |
|
R5949:Adcy10
|
UTSW |
1 |
165539817 |
missense |
possibly damaging |
0.79 |
|
R5998:Adcy10
|
UTSW |
1 |
165541649 |
missense |
probably benign |
0.19 |
|
R6238:Adcy10
|
UTSW |
1 |
165575728 |
nonsense |
probably null |
|
|
R6455:Adcy10
|
UTSW |
1 |
165518374 |
missense |
probably damaging |
1.00 |
|
R6920:Adcy10
|
UTSW |
1 |
165575658 |
missense |
probably damaging |
1.00 |
|
R6935:Adcy10
|
UTSW |
1 |
165506635 |
missense |
probably benign |
0.21 |
|
R6957:Adcy10
|
UTSW |
1 |
165564285 |
missense |
probably damaging |
1.00 |
|
R6970:Adcy10
|
UTSW |
1 |
165556916 |
missense |
probably benign |
0.02 |
|
R7027:Adcy10
|
UTSW |
1 |
165518246 |
missense |
probably damaging |
1.00 |
|
R7049:Adcy10
|
UTSW |
1 |
165539874 |
missense |
probably damaging |
1.00 |
|
R7062:Adcy10
|
UTSW |
1 |
165538522 |
missense |
probably benign |
0.27 |
|
R7130:Adcy10
|
UTSW |
1 |
165504047 |
missense |
probably damaging |
1.00 |
|
R7144:Adcy10
|
UTSW |
1 |
165510370 |
missense |
probably benign |
0.01 |
|
R7182:Adcy10
|
UTSW |
1 |
165543470 |
splice site |
probably null |
|
|
R7228:Adcy10
|
UTSW |
1 |
165510272 |
missense |
probably damaging |
1.00 |
|
R7384:Adcy10
|
UTSW |
1 |
165576608 |
missense |
unknown |
|
|
R7561:Adcy10
|
UTSW |
1 |
165559172 |
missense |
possibly damaging |
0.94 |
|
R7603:Adcy10
|
UTSW |
1 |
165564237 |
missense |
probably damaging |
0.99 |
|
R7693:Adcy10
|
UTSW |
1 |
165570771 |
missense |
probably benign |
0.01 |
|
R7812:Adcy10
|
UTSW |
1 |
165515369 |
missense |
probably damaging |
1.00 |
|
R7905:Adcy10
|
UTSW |
1 |
165513168 |
critical splice donor site |
probably null |
|
|
R8040:Adcy10
|
UTSW |
1 |
165552024 |
missense |
probably damaging |
1.00 |
|
R8242:Adcy10
|
UTSW |
1 |
165546549 |
missense |
possibly damaging |
0.82 |
|
R8278:Adcy10
|
UTSW |
1 |
165503288 |
missense |
probably damaging |
1.00 |
|
R8282:Adcy10
|
UTSW |
1 |
165510337 |
missense |
probably benign |
0.34 |
|
R8812:Adcy10
|
UTSW |
1 |
165551298 |
missense |
probably damaging |
0.98 |
|
R9039:Adcy10
|
UTSW |
1 |
165518345 |
missense |
probably damaging |
1.00 |
|
R9178:Adcy10
|
UTSW |
1 |
165575649 |
missense |
possibly damaging |
0.79 |
|
R9244:Adcy10
|
UTSW |
1 |
165543110 |
missense |
probably benign |
0.00 |
|
R9712:Adcy10
|
UTSW |
1 |
165513112 |
missense |
probably damaging |
1.00 |
|
RF018:Adcy10
|
UTSW |
1 |
165552109 |
missense |
probably damaging |
1.00 |
|
Z1177:Adcy10
|
UTSW |
1 |
165510276 |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2015-04-16 |
Incidental Mutation