Incidental Mutation 'IGL02311:Adam21'
| ID |
287805 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam21
|
| Ensembl Gene |
ENSMUSG00000008438 |
| Gene Name |
a disintegrin and metallopeptidase domain 21 |
| Synonyms |
ADAM31 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
81605358-81615248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 81607666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 32
(D32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008582]
|
| AlphaFold |
Q9JI76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008582
AA Change: D32A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: D32A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
164 |
5.1e-21 |
PFAM |
|
Pfam:Reprolysin_4
|
212 |
389 |
2.5e-11 |
PFAM |
|
Pfam:Reprolysin
|
212 |
402 |
7.3e-50 |
PFAM |
|
Pfam:Reprolysin_5
|
214 |
400 |
5.8e-19 |
PFAM |
|
Pfam:Reprolysin_2
|
233 |
393 |
1.3e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
236 |
356 |
6.5e-16 |
PFAM |
|
DISIN
|
419 |
494 |
2.45e-37 |
SMART |
|
ACR
|
495 |
631 |
6.49e-62 |
SMART |
|
EGF
|
637 |
667 |
2.03e1 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166971
|
| Coding Region Coverage |
|
| 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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. The encoded protein functions in the regulation of spermatogenesis in the testes and neurogenesis in the central nervous system. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
C |
A |
5: 25,202,705 (GRCm39) |
|
probably benign |
Het |
| Asns |
A |
G |
6: 7,676,233 (GRCm39) |
|
probably null |
Het |
| Bin3 |
A |
T |
14: 70,361,666 (GRCm39) |
M45L |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,225,134 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,163 (GRCm39) |
T2642A |
probably benign |
Het |
| Dbndd2 |
T |
C |
2: 164,330,622 (GRCm39) |
S92P |
possibly damaging |
Het |
| Dclre1b |
A |
C |
3: 103,715,409 (GRCm39) |
F30V |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,755,624 (GRCm39) |
D200G |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,076,456 (GRCm39) |
R335L |
probably damaging |
Het |
| Fscn1 |
T |
C |
5: 142,957,765 (GRCm39) |
V304A |
probably benign |
Het |
| Gm7008 |
G |
A |
12: 40,273,385 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
G |
14: 5,864,425 (GRCm38) |
|
probably null |
Het |
| Ifih1 |
T |
C |
2: 62,440,847 (GRCm39) |
T440A |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,571 (GRCm39) |
S237F |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,001,743 (GRCm39) |
I174V |
probably benign |
Het |
| Or2ag2 |
A |
G |
7: 106,485,101 (GRCm39) |
Y308H |
probably benign |
Het |
| Or8c11 |
C |
T |
9: 38,289,194 (GRCm39) |
Q6* |
probably null |
Het |
| Orc1 |
G |
T |
4: 108,457,171 (GRCm39) |
V404L |
probably benign |
Het |
| Pcsk5 |
G |
T |
19: 17,410,784 (GRCm39) |
Y1869* |
probably null |
Het |
| Phf21b |
A |
G |
15: 84,678,095 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,484,246 (GRCm39) |
T631A |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,930,190 (GRCm39) |
N349D |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,637 (GRCm39) |
S976G |
probably benign |
Het |
| Scn8a |
G |
T |
15: 100,911,164 (GRCm39) |
M861I |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,239 (GRCm39) |
N433S |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,910,630 (GRCm39) |
K854R |
probably benign |
Het |
| Tbata |
T |
A |
10: 61,015,234 (GRCm39) |
C150* |
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,692 (GRCm39) |
P417S |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tpr |
G |
T |
1: 150,274,404 (GRCm39) |
D104Y |
probably damaging |
Het |
| Ubash3b |
T |
C |
9: 40,958,333 (GRCm39) |
T16A |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,335,635 (GRCm39) |
S548T |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,660 (GRCm39) |
V1869E |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,120,732 (GRCm39) |
C64R |
probably benign |
Het |
| Zic2 |
C |
A |
14: 122,713,606 (GRCm39) |
N173K |
probably damaging |
Het |
|
| Other mutations in Adam21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02186:Adam21
|
APN |
12 |
81,605,983 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03132:Adam21
|
APN |
12 |
81,607,148 (GRCm39) |
nonsense |
probably null |
|
|
IGL03225:Adam21
|
APN |
12 |
81,606,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB009:Adam21
|
UTSW |
12 |
81,606,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB019:Adam21
|
UTSW |
12 |
81,606,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0305:Adam21
|
UTSW |
12 |
81,607,059 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0634:Adam21
|
UTSW |
12 |
81,607,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1415:Adam21
|
UTSW |
12 |
81,606,321 (GRCm39) |
nonsense |
probably null |
|
|
R1961:Adam21
|
UTSW |
12 |
81,606,282 (GRCm39) |
nonsense |
probably null |
|
|
R1996:Adam21
|
UTSW |
12 |
81,606,376 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2159:Adam21
|
UTSW |
12 |
81,607,241 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2215:Adam21
|
UTSW |
12 |
81,607,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Adam21
|
UTSW |
12 |
81,606,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Adam21
|
UTSW |
12 |
81,607,583 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4356:Adam21
|
UTSW |
12 |
81,605,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4503:Adam21
|
UTSW |
12 |
81,607,672 (GRCm39) |
missense |
probably benign |
|
|
R4795:Adam21
|
UTSW |
12 |
81,607,748 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4925:Adam21
|
UTSW |
12 |
81,607,163 (GRCm39) |
missense |
probably benign |
|
|
R4932:Adam21
|
UTSW |
12 |
81,605,692 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5110:Adam21
|
UTSW |
12 |
81,606,989 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5831:Adam21
|
UTSW |
12 |
81,605,875 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6289:Adam21
|
UTSW |
12 |
81,607,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Adam21
|
UTSW |
12 |
81,606,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7077:Adam21
|
UTSW |
12 |
81,605,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Adam21
|
UTSW |
12 |
81,607,015 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7173:Adam21
|
UTSW |
12 |
81,606,008 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7176:Adam21
|
UTSW |
12 |
81,607,022 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7232:Adam21
|
UTSW |
12 |
81,607,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7371:Adam21
|
UTSW |
12 |
81,607,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Adam21
|
UTSW |
12 |
81,605,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7522:Adam21
|
UTSW |
12 |
81,605,722 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7918:Adam21
|
UTSW |
12 |
81,607,378 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7932:Adam21
|
UTSW |
12 |
81,606,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8040:Adam21
|
UTSW |
12 |
81,607,211 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8486:Adam21
|
UTSW |
12 |
81,607,550 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8750:Adam21
|
UTSW |
12 |
81,607,247 (GRCm39) |
nonsense |
probably null |
|
|
R8881:Adam21
|
UTSW |
12 |
81,606,650 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9084:Adam21
|
UTSW |
12 |
81,606,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Adam21
|
UTSW |
12 |
81,607,724 (GRCm39) |
missense |
probably benign |
|
|
R9564:Adam21
|
UTSW |
12 |
81,605,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Adam21
|
UTSW |
12 |
81,607,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Adam21
|
UTSW |
12 |
81,606,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation