Incidental Mutation 'R5110:Adam33'
| ID |
393786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam33
|
| Ensembl Gene |
ENSMUSG00000027318 |
| Gene Name |
a disintegrin and metallopeptidase domain 33 |
| Synonyms |
|
| MMRRC Submission |
042698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5110 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130892739-130905734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130895690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 542
(C542S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052104]
[ENSMUST00000110232]
[ENSMUST00000183552]
|
| AlphaFold |
Q923W9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052104
AA Change: C542S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318
AA Change: C542S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
38 |
168 |
1.9e-28 |
PFAM |
|
Pfam:Reprolysin_5
|
209 |
390 |
6.9e-21 |
PFAM |
|
Pfam:Reprolysin_4
|
209 |
401 |
3.5e-9 |
PFAM |
|
Pfam:Reprolysin
|
211 |
410 |
1.9e-60 |
PFAM |
|
Pfam:Reprolysin_2
|
232 |
400 |
3e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
235 |
357 |
1.2e-16 |
PFAM |
|
DISIN
|
427 |
502 |
8.4e-42 |
SMART |
|
ACR
|
503 |
647 |
6.8e-51 |
SMART |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110232
AA Change: C542S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318
AA Change: C542S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
36 |
168 |
1.3e-24 |
PFAM |
|
Pfam:Reprolysin_5
|
209 |
390 |
8.5e-23 |
PFAM |
|
Pfam:Reprolysin_4
|
209 |
401 |
4.2e-11 |
PFAM |
|
Pfam:Reprolysin
|
211 |
410 |
4e-63 |
PFAM |
|
Pfam:Reprolysin_2
|
231 |
400 |
7.3e-17 |
PFAM |
|
Pfam:Reprolysin_3
|
235 |
357 |
2.2e-20 |
PFAM |
|
DISIN
|
427 |
502 |
1.66e-39 |
SMART |
|
ACR
|
503 |
646 |
7.59e-54 |
SMART |
|
EGF
|
653 |
682 |
1.53e-1 |
SMART |
|
transmembrane domain
|
703 |
725 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149625
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183552
AA Change: C542S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318
AA Change: C542S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
38 |
168 |
2.4e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
209 |
390 |
8.2e-23 |
PFAM |
|
Pfam:Reprolysin_4
|
209 |
401 |
4.2e-11 |
PFAM |
|
Pfam:Reprolysin
|
211 |
410 |
2.4e-62 |
PFAM |
|
Pfam:Reprolysin_2
|
232 |
400 |
2.8e-16 |
PFAM |
|
Pfam:Reprolysin_3
|
235 |
357 |
1.5e-18 |
PFAM |
|
DISIN
|
427 |
502 |
1.66e-39 |
SMART |
|
ACR
|
503 |
646 |
7.59e-54 |
SMART |
|
EGF
|
653 |
682 |
1.53e-1 |
SMART |
|
transmembrane domain
|
703 |
725 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135149
AA Change: C400S
|
| SMART Domains |
Protein: ENSMUSP00000122608
Gene: ENSMUSG00000027318
AA Change: C400S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Reprolysin_5
|
68 |
249 |
1.8e-23 |
PFAM |
|
Pfam:Reprolysin_4
|
68 |
260 |
8.6e-12 |
PFAM |
|
Pfam:Reprolysin
|
70 |
269 |
8.3e-64 |
PFAM |
|
Pfam:Reprolysin_2
|
90 |
259 |
1.5e-17 |
PFAM |
|
Pfam:Reprolysin_3
|
94 |
216 |
5.1e-21 |
PFAM |
|
DISIN
|
286 |
361 |
1.66e-39 |
SMART |
|
ACR
|
362 |
505 |
8.02e-44 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000184921
AA Change: H55Q
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147333
|
| SMART Domains |
Protein: ENSMUSP00000117097
Gene: ENSMUSG00000027318
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
150 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9590 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is widely expressed, most highly in the adult brain, heart, kidney, lung and testis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a targeted gene deletion are viable, fertile, developmentally normal and display normal allergen-induced airway hyperreactivity, IgE production, mucus metaplasia, and airway inflammation in an OVA-induced model of allergic asthma. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted, knock-out(2) Targeted, other(4) |
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
C |
A |
9: 124,057,987 (GRCm39) |
|
probably null |
Het |
| 2310016G11Rik |
G |
A |
7: 44,327,286 (GRCm39) |
|
noncoding transcript |
Het |
| Abi2 |
G |
A |
1: 60,489,280 (GRCm39) |
V98I |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,989 (GRCm39) |
T258A |
probably benign |
Het |
| Adamts15 |
A |
G |
9: 30,832,740 (GRCm39) |
V265A |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,992,123 (GRCm39) |
D4469V |
probably damaging |
Het |
| Aicda |
A |
G |
6: 122,538,144 (GRCm39) |
N101D |
probably benign |
Het |
| Als2 |
A |
T |
1: 59,224,600 (GRCm39) |
D1040E |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,653,211 (GRCm39) |
R319G |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col1a1 |
T |
C |
11: 94,832,419 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
G |
3: 130,378,374 (GRCm39) |
*594W |
probably null |
Het |
| Cwf19l2 |
A |
G |
9: 3,450,012 (GRCm39) |
|
probably null |
Het |
| Dctn4 |
C |
T |
18: 60,679,387 (GRCm39) |
P236S |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,141,697 (GRCm39) |
S556P |
probably benign |
Het |
| Ehmt1 |
C |
A |
2: 24,742,802 (GRCm39) |
C459F |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,945,127 (GRCm39) |
|
probably null |
Het |
| Fam136b-ps |
A |
G |
15: 31,276,856 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
T |
C |
5: 4,806,448 (GRCm39) |
D378G |
probably benign |
Het |
| Golga5 |
G |
A |
12: 102,438,336 (GRCm39) |
R17Q |
probably benign |
Het |
| Hk1 |
A |
T |
10: 62,122,430 (GRCm39) |
Y422N |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,999,427 (GRCm39) |
D255G |
probably benign |
Het |
| Ift81 |
A |
G |
5: 122,689,121 (GRCm39) |
V665A |
probably benign |
Het |
| Igkv13-84 |
T |
C |
6: 68,916,592 (GRCm39) |
F3L |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,020,055 (GRCm39) |
S433R |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,941,744 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,327,417 (GRCm39) |
D1471V |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,261,801 (GRCm39) |
D6990E |
probably damaging |
Het |
| Map3k6 |
G |
A |
4: 132,974,859 (GRCm39) |
|
probably benign |
Het |
| Miox |
T |
A |
15: 89,219,759 (GRCm39) |
D82E |
probably benign |
Het |
| Or4n5 |
T |
G |
14: 50,133,032 (GRCm39) |
I76L |
possibly damaging |
Het |
| Ovgp1 |
G |
C |
3: 105,885,099 (GRCm39) |
R133P |
probably damaging |
Het |
| Per2 |
G |
A |
1: 91,357,237 (GRCm39) |
T642I |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,449,964 (GRCm39) |
V321A |
probably damaging |
Het |
| Pptc7 |
T |
A |
5: 122,446,312 (GRCm39) |
N17K |
probably benign |
Het |
| Prpf19 |
T |
C |
19: 10,876,651 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,690,496 (GRCm39) |
|
probably benign |
Het |
| Sardh |
T |
C |
2: 27,079,559 (GRCm39) |
D911G |
probably benign |
Het |
| Sbf2 |
T |
A |
7: 109,963,864 (GRCm39) |
T994S |
probably benign |
Het |
| Slc1a1 |
G |
A |
19: 28,889,208 (GRCm39) |
E494K |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,026,852 (GRCm39) |
K771E |
possibly damaging |
Het |
| Stim1 |
T |
C |
7: 101,917,629 (GRCm39) |
V3A |
unknown |
Het |
| Syne3 |
G |
A |
12: 104,909,629 (GRCm39) |
R736C |
probably benign |
Het |
| Synj2 |
T |
C |
17: 6,087,990 (GRCm39) |
V986A |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,859,289 (GRCm39) |
S440P |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,726,117 (GRCm39) |
T238A |
possibly damaging |
Het |
| Ttc8 |
T |
C |
12: 98,908,562 (GRCm39) |
M17T |
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,458,385 (GRCm39) |
R432Q |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,974 (GRCm39) |
|
probably null |
Het |
| Usp4 |
T |
A |
9: 108,239,877 (GRCm39) |
I202N |
probably damaging |
Het |
| Vmn1r194 |
T |
G |
13: 22,429,170 (GRCm39) |
S262R |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,831,897 (GRCm39) |
F631S |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,770,955 (GRCm39) |
S2133T |
probably damaging |
Het |
| Zfp13 |
C |
A |
17: 23,799,834 (GRCm39) |
V77F |
probably benign |
Het |
| Zscan10 |
T |
A |
17: 23,828,606 (GRCm39) |
C306S |
probably damaging |
Het |
|
| Other mutations in Adam33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Adam33
|
APN |
2 |
130,896,183 (GRCm39) |
splice site |
probably benign |
|
|
IGL01586:Adam33
|
APN |
2 |
130,895,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Adam33
|
APN |
2 |
130,895,078 (GRCm39) |
splice site |
probably benign |
|
|
IGL02498:Adam33
|
APN |
2 |
130,895,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Adam33
|
UTSW |
2 |
130,896,041 (GRCm39) |
splice site |
probably null |
|
|
R0012:Adam33
|
UTSW |
2 |
130,894,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Adam33
|
UTSW |
2 |
130,896,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1401:Adam33
|
UTSW |
2 |
130,893,391 (GRCm39) |
unclassified |
probably benign |
|
|
R2071:Adam33
|
UTSW |
2 |
130,897,266 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2095:Adam33
|
UTSW |
2 |
130,895,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2383:Adam33
|
UTSW |
2 |
130,893,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4077:Adam33
|
UTSW |
2 |
130,905,444 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4403:Adam33
|
UTSW |
2 |
130,895,190 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4821:Adam33
|
UTSW |
2 |
130,903,115 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5150:Adam33
|
UTSW |
2 |
130,895,117 (GRCm39) |
intron |
probably benign |
|
|
R5364:Adam33
|
UTSW |
2 |
130,896,392 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5632:Adam33
|
UTSW |
2 |
130,895,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5818:Adam33
|
UTSW |
2 |
130,896,278 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6226:Adam33
|
UTSW |
2 |
130,897,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Adam33
|
UTSW |
2 |
130,893,266 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6755:Adam33
|
UTSW |
2 |
130,895,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Adam33
|
UTSW |
2 |
130,895,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Adam33
|
UTSW |
2 |
130,895,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7395:Adam33
|
UTSW |
2 |
130,903,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7650:Adam33
|
UTSW |
2 |
130,903,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Adam33
|
UTSW |
2 |
130,900,257 (GRCm39) |
missense |
unknown |
|
|
R7809:Adam33
|
UTSW |
2 |
130,893,266 (GRCm39) |
missense |
probably benign |
|
|
R7932:Adam33
|
UTSW |
2 |
130,905,617 (GRCm39) |
unclassified |
probably benign |
|
|
R8210:Adam33
|
UTSW |
2 |
130,898,250 (GRCm39) |
missense |
probably benign |
|
|
R8969:Adam33
|
UTSW |
2 |
130,894,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9102:Adam33
|
UTSW |
2 |
130,897,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9449:Adam33
|
UTSW |
2 |
130,895,606 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9650:Adam33
|
UTSW |
2 |
130,894,989 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9720:Adam33
|
UTSW |
2 |
130,900,236 (GRCm39) |
missense |
|
|
|
Z1177:Adam33
|
UTSW |
2 |
130,900,582 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCAGTTTCCCACACAGAG -3'
(R):5'- TTACCTACTGGATGGCTCACCC -3'
Sequencing Primer
(F):5'- GTTTCCCACACAGAGCGTCC -3'
(R):5'- TAGACGGCTGGTGTCCCAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation