Incidental Mutation 'R8486:Adam21'
| ID |
657752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam21
|
| Ensembl Gene |
ENSMUSG00000008438 |
| Gene Name |
a disintegrin and metallopeptidase domain 21 |
| Synonyms |
ADAM31 |
| MMRRC Submission |
067929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81605358-81615248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81607550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 71
(V71I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008582]
|
| AlphaFold |
Q9JI76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008582
AA Change: V71I
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: V71I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,225,092 (GRCm39) |
S524G |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,857,937 (GRCm39) |
I546N |
possibly damaging |
Het |
| Abcd4 |
C |
T |
12: 84,650,752 (GRCm39) |
R532H |
probably damaging |
Het |
| Acsf2 |
A |
T |
11: 94,460,786 (GRCm39) |
D373E |
probably damaging |
Het |
| Acsm1 |
A |
G |
7: 119,259,880 (GRCm39) |
T510A |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,147,621 (GRCm39) |
D473G |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,631,499 (GRCm39) |
V286I |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,344,642 (GRCm39) |
E141G |
probably null |
Het |
| Arhgap21 |
T |
C |
2: 20,865,236 (GRCm39) |
D952G |
probably damaging |
Het |
| Asb4 |
A |
T |
6: 5,390,653 (GRCm39) |
K15N |
possibly damaging |
Het |
| Cert1 |
T |
C |
13: 96,770,690 (GRCm39) |
V533A |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,752,770 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
C |
17: 72,170,839 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,614,306 (GRCm39) |
V260A |
probably benign |
Het |
| Dnm1 |
C |
T |
2: 32,224,739 (GRCm39) |
M430I |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,242,561 (GRCm39) |
D464G |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,321,883 (GRCm39) |
|
probably benign |
Het |
| Ephb1 |
A |
C |
9: 101,841,164 (GRCm39) |
D730E |
probably benign |
Het |
| Fancf |
A |
G |
7: 51,511,632 (GRCm39) |
V124A |
probably benign |
Het |
| Fgfr2 |
G |
A |
7: 129,765,745 (GRCm39) |
P692S |
possibly damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,230,521 (GRCm39) |
R731* |
probably null |
Het |
| Fos |
T |
C |
12: 85,522,805 (GRCm39) |
F239S |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,548,092 (GRCm39) |
Y107H |
probably damaging |
Het |
| Gm3159 |
A |
C |
14: 4,400,520 (GRCm38) |
N193T |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,871,124 (GRCm39) |
D2771V |
probably damaging |
Het |
| Ighv1-18 |
T |
A |
12: 114,646,325 (GRCm39) |
K92M |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,136,091 (GRCm39) |
Y696C |
probably damaging |
Het |
| Klf15 |
T |
A |
6: 90,444,160 (GRCm39) |
V245D |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,625,911 (GRCm39) |
A702V |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,034,637 (GRCm39) |
M122T |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,618,702 (GRCm39) |
L124P |
probably damaging |
Het |
| Mcrs1 |
G |
T |
15: 99,146,349 (GRCm39) |
Y85* |
probably null |
Het |
| Mgst1 |
A |
T |
6: 138,120,026 (GRCm39) |
I29L |
probably benign |
Het |
| Miga1 |
C |
T |
3: 151,982,390 (GRCm39) |
R562H |
probably damaging |
Het |
| Mybpc3 |
T |
C |
2: 90,959,117 (GRCm39) |
W687R |
probably damaging |
Het |
| Myh11 |
G |
T |
16: 14,022,532 (GRCm39) |
A1682D |
possibly damaging |
Het |
| Nes |
T |
C |
3: 87,887,320 (GRCm39) |
S1816P |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,267,069 (GRCm39) |
V69A |
possibly damaging |
Het |
| Or5c1 |
T |
G |
2: 37,222,662 (GRCm39) |
V301G |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,410,812 (GRCm39) |
F2773C |
probably damaging |
Het |
| Pkp1 |
C |
G |
1: 135,846,714 (GRCm39) |
E13Q |
probably damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,031,869 (GRCm39) |
D4G |
probably benign |
Het |
| Ppp6r3 |
G |
A |
19: 3,537,072 (GRCm39) |
H455Y |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,106,657 (GRCm39) |
R202G |
probably benign |
Het |
| Sgcz |
T |
G |
8: 38,190,207 (GRCm39) |
K106N |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,247,304 (GRCm39) |
Y572C |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,088,881 (GRCm39) |
Q5080* |
probably null |
Het |
| Tpst2 |
C |
T |
5: 112,456,171 (GRCm39) |
Q5* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,561,877 (GRCm39) |
T28908S |
possibly damaging |
Het |
| Vmn1r120 |
C |
T |
7: 20,787,027 (GRCm39) |
R228H |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,186,370 (GRCm39) |
N105S |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,979,829 (GRCm39) |
T195A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,974,909 (GRCm39) |
S484T |
probably benign |
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 |
|
IGL02311:Adam21
|
APN |
12 |
81,607,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTGTAACACTCCCTGCAAC -3'
(R):5'- AGGTGCAGATGCTAGAACACTC -3'
Sequencing Primer
(F):5'- CTGAAAGCAACTAAAGACTCAAGGGC -3'
(R):5'- TGCAGATGCTAGAACACTCATGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation