Incidental Mutation 'R3780:Adam21'
ID |
272018 |
Institutional Source |
Beutler Lab
|
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 # |
R3780 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81605358-81615248 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81606047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 572
(V572I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008582]
|
AlphaFold |
Q9JI76 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008582
AA Change: V572I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000008582 Gene: ENSMUSG00000008438 AA Change: V572I
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
93% (40/43) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
T |
7: 29,260,263 (GRCm39) |
|
noncoding transcript |
Het |
Arhgap32 |
T |
A |
9: 32,063,315 (GRCm39) |
|
probably null |
Het |
Carmil1 |
A |
T |
13: 24,321,152 (GRCm39) |
I281N |
probably damaging |
Het |
Cdh12 |
T |
A |
15: 21,586,063 (GRCm39) |
|
probably null |
Het |
Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
Cntrob |
A |
G |
11: 69,193,708 (GRCm39) |
L814P |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,252,000 (GRCm39) |
N952S |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,517 (GRCm39) |
Y1084C |
probably damaging |
Het |
Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
Glis2 |
T |
C |
16: 4,431,760 (GRCm39) |
|
probably benign |
Het |
Hif3a |
T |
C |
7: 16,788,638 (GRCm39) |
E111G |
probably damaging |
Het |
Kctd4 |
A |
G |
14: 76,200,251 (GRCm39) |
D74G |
probably benign |
Het |
Kif21b |
A |
T |
1: 136,083,964 (GRCm39) |
K737M |
probably damaging |
Het |
Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
Lama2 |
A |
T |
10: 27,335,335 (GRCm39) |
N113K |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,054,944 (GRCm39) |
S409P |
probably benign |
Het |
Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,201,415 (GRCm39) |
F95L |
probably benign |
Het |
Ndufa4l2 |
A |
G |
10: 127,351,289 (GRCm39) |
I27V |
probably benign |
Het |
Npepl1 |
T |
G |
2: 173,962,447 (GRCm39) |
L371R |
probably damaging |
Het |
Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
Ocrl |
G |
A |
X: 47,027,180 (GRCm39) |
V416I |
probably benign |
Het |
Or2g1 |
T |
G |
17: 38,106,895 (GRCm39) |
C187G |
probably damaging |
Het |
Padi2 |
C |
T |
4: 140,645,048 (GRCm39) |
T94I |
probably benign |
Het |
Pcca |
G |
A |
14: 122,922,297 (GRCm39) |
E353K |
probably damaging |
Het |
Pcdhgb2 |
T |
A |
18: 37,824,810 (GRCm39) |
N600K |
probably damaging |
Het |
Pex5l |
A |
G |
3: 33,004,993 (GRCm39) |
L593P |
probably damaging |
Het |
Rbp2 |
G |
A |
9: 98,380,879 (GRCm39) |
D62N |
probably benign |
Het |
Rock1 |
G |
T |
18: 10,067,575 (GRCm39) |
N1319K |
probably benign |
Het |
Ror1 |
A |
C |
4: 100,269,314 (GRCm39) |
D384A |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sacm1l |
A |
T |
9: 123,381,855 (GRCm39) |
E152D |
probably benign |
Het |
Seh1l |
T |
C |
18: 67,908,087 (GRCm39) |
V3A |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,848,097 (GRCm39) |
D20E |
probably benign |
Het |
Serpini1 |
T |
G |
3: 75,521,942 (GRCm39) |
N144K |
probably damaging |
Het |
Slc22a23 |
G |
A |
13: 34,528,323 (GRCm39) |
T153I |
probably benign |
Het |
Slfn8 |
A |
G |
11: 82,908,280 (GRCm39) |
S88P |
probably benign |
Het |
Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,564,146 (GRCm39) |
C106Y |
probably damaging |
Het |
Washc3 |
C |
T |
10: 88,055,122 (GRCm39) |
T112M |
probably benign |
Het |
Zfp280d |
C |
T |
9: 72,229,806 (GRCm39) |
T346M |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCCTATTACAAGTCTCAGGAAGGC -3'
(R):5'- ACCATGACCAACAGTGCAGG -3'
Sequencing Primer
(F):5'- TCTCAGGAAGGCAAGCATTTG -3'
(R):5'- CCAACAGTGCAGGGAGATTTTTG -3'
|
Posted On |
2015-03-25 |