Incidental Mutation 'R9650:Adam33'
| ID |
727017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam33
|
| Ensembl Gene |
ENSMUSG00000027318 |
| Gene Name |
a disintegrin and metallopeptidase domain 33 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130892739-130905734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130894989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 690
(V690M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052104]
[ENSMUST00000110232]
[ENSMUST00000183552]
|
| AlphaFold |
Q923W9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052104
AA Change: V664M
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318
AA Change: V664M
| 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 |
possibly damaging
Transcript: ENSMUST00000110232
AA Change: V690M
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318
AA Change: V690M
| 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 |
probably benign
Transcript: ENSMUST00000135149
|
| SMART Domains |
Protein: ENSMUSP00000122608
Gene: ENSMUSG00000027318
| 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 |
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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183552
AA Change: V690M
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318
AA Change: V690M
| 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 |
probably benign
Transcript: ENSMUST00000184921
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,071,446 (GRCm39) |
N1469Y |
probably benign |
Het |
| Actl10 |
T |
A |
2: 154,394,682 (GRCm39) |
N211K |
probably benign |
Het |
| Agap2 |
G |
A |
10: 126,927,653 (GRCm39) |
R1178H |
unknown |
Het |
| Ank2 |
T |
A |
3: 126,735,829 (GRCm39) |
T3352S |
unknown |
Het |
| BC005537 |
T |
A |
13: 24,986,122 (GRCm39) |
D7E |
unknown |
Het |
| Bptf |
T |
C |
11: 106,935,412 (GRCm39) |
M142V |
probably benign |
Het |
| Cox15 |
A |
G |
19: 43,735,318 (GRCm39) |
Y150H |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,497,405 (GRCm39) |
I382F |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,254,636 (GRCm39) |
F1275S |
|
Het |
| Cs |
T |
A |
10: 128,196,856 (GRCm39) |
M417K |
probably benign |
Het |
| Cyp2b19 |
G |
A |
7: 26,466,208 (GRCm39) |
R337Q |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,333 (GRCm39) |
Y442F |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,174,849 (GRCm39) |
D131E |
possibly damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,369,495 (GRCm39) |
I605V |
probably benign |
Het |
| Evc |
G |
A |
5: 37,458,162 (GRCm39) |
P963L |
probably damaging |
Het |
| Evl |
C |
A |
12: 108,641,698 (GRCm39) |
T160N |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,629,387 (GRCm39) |
Y255C |
probably damaging |
Het |
| Fras1 |
G |
T |
5: 96,910,387 (GRCm39) |
R3272L |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,369,375 (GRCm39) |
V2283A |
probably damaging |
Het |
| Fzd6 |
A |
G |
15: 38,894,941 (GRCm39) |
Y369C |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,135,357 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,425,354 (GRCm39) |
S449P |
probably damaging |
Het |
| Ighv1-34 |
G |
T |
12: 114,814,885 (GRCm39) |
D92E |
possibly damaging |
Het |
| Iigp1c |
T |
G |
18: 60,379,470 (GRCm39) |
V335G |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,277,464 (GRCm39) |
R337Q |
probably damaging |
Het |
| Itgax |
T |
C |
7: 127,734,935 (GRCm39) |
I422T |
probably benign |
Het |
| Itk |
A |
T |
11: 46,222,778 (GRCm39) |
Y564N |
probably damaging |
Het |
| Kcnh5 |
A |
C |
12: 75,023,293 (GRCm39) |
S592A |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,609,083 (GRCm39) |
V416E |
possibly damaging |
Het |
| Lhfpl4 |
T |
C |
6: 113,171,147 (GRCm39) |
E13G |
probably benign |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,762 (GRCm39) |
M4177K |
unknown |
Het |
| Ngef |
T |
A |
1: 87,415,552 (GRCm39) |
T371S |
possibly damaging |
Het |
| Nutm2 |
A |
T |
13: 50,623,755 (GRCm39) |
T151S |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,818,006 (GRCm39) |
L180* |
probably null |
Het |
| Or51f2 |
T |
C |
7: 102,526,987 (GRCm39) |
I220T |
probably damaging |
Het |
| Pate13 |
A |
C |
9: 35,820,799 (GRCm39) |
M84L |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,519 (GRCm39) |
I525K |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,657,714 (GRCm39) |
R394C |
probably damaging |
Het |
| Pnmt |
A |
T |
11: 98,278,262 (GRCm39) |
D112V |
probably damaging |
Het |
| Rnf115 |
C |
T |
3: 96,665,337 (GRCm39) |
T69I |
probably damaging |
Het |
| Rrp7a |
A |
T |
15: 83,004,091 (GRCm39) |
|
probably null |
Het |
| Senp1 |
A |
T |
15: 97,946,248 (GRCm39) |
M499K |
probably damaging |
Het |
| Serpina3f |
G |
A |
12: 104,186,519 (GRCm39) |
A362T |
possibly damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,586,302 (GRCm39) |
I55F |
possibly damaging |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Tln1 |
G |
A |
4: 43,545,912 (GRCm39) |
T901I |
probably damaging |
Het |
| Tmem102 |
T |
C |
11: 69,695,869 (GRCm39) |
K64R |
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,930,629 (GRCm39) |
V2105I |
probably damaging |
Het |
| Traf2 |
A |
C |
2: 25,410,454 (GRCm39) |
C391W |
probably damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,705,974 (GRCm39) |
S183P |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
A |
9: 44,000,476 (GRCm39) |
N288K |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,613,929 (GRCm39) |
T381A |
probably benign |
Het |
| Vil1 |
C |
T |
1: 74,464,775 (GRCm39) |
P474L |
probably benign |
Het |
| Wasf2 |
T |
A |
4: 132,917,457 (GRCm39) |
N185K |
unknown |
Het |
| Zfp865 |
A |
G |
7: 5,037,683 (GRCm39) |
M45V |
unknown |
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 |
|
R5110:Adam33
|
UTSW |
2 |
130,895,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACAGTCCCCTTCGATGACAG -3'
(R):5'- TTGACTGCCTGCCATAACG -3'
Sequencing Primer
(F):5'- AGTCCCCTTCGATGACAGAATGTTG -3'
(R):5'- CTGCCATAACGGTGGGGTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation