Incidental Mutation 'R1415:Adam21'
ID |
159780 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam21
|
Ensembl Gene |
ENSMUSG00000008438 |
Gene Name |
a disintegrin and metallopeptidase domain 21 |
Synonyms |
ADAM31 |
MMRRC Submission |
039471-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1415 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81605358-81615248 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 81606321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 480
(W480*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008582]
|
AlphaFold |
Q9JI76 |
Predicted Effect |
probably null
Transcript: ENSMUST00000008582
AA Change: W480*
|
SMART Domains |
Protein: ENSMUSP00000008582 Gene: ENSMUSG00000008438 AA Change: W480*
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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,303,982 (GRCm39) |
V135A |
probably benign |
Het |
Ccdc71 |
T |
A |
9: 108,340,407 (GRCm39) |
Y73* |
probably null |
Het |
Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
Dnajb11 |
T |
C |
16: 22,689,371 (GRCm39) |
V264A |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,328,777 (GRCm39) |
E1174G |
probably damaging |
Het |
Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
Gigyf1 |
A |
G |
5: 137,517,478 (GRCm39) |
|
probably null |
Het |
Letm1 |
A |
T |
5: 33,926,906 (GRCm39) |
N130K |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,519,676 (GRCm39) |
Y137C |
probably damaging |
Het |
Map3k2 |
A |
G |
18: 32,361,330 (GRCm39) |
I597V |
possibly damaging |
Het |
Nek1 |
A |
G |
8: 61,542,720 (GRCm39) |
E770G |
probably benign |
Het |
Or4d2b |
A |
C |
11: 87,780,473 (GRCm39) |
V83G |
possibly damaging |
Het |
Or52n2b |
A |
G |
7: 104,565,543 (GRCm39) |
I320T |
probably benign |
Het |
Pank2 |
T |
A |
2: 131,124,638 (GRCm39) |
Y68* |
probably null |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Secisbp2l |
C |
A |
2: 125,582,285 (GRCm39) |
G1057V |
probably benign |
Het |
Slc30a2 |
C |
T |
4: 134,076,660 (GRCm39) |
T265M |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,688,084 (GRCm39) |
E1239G |
probably null |
Het |
Snx30 |
C |
T |
4: 59,879,261 (GRCm39) |
R167C |
probably damaging |
Het |
Tmem26 |
T |
C |
10: 68,614,491 (GRCm39) |
F302S |
possibly damaging |
Het |
Tpgs2 |
A |
G |
18: 25,301,610 (GRCm39) |
L19S |
probably damaging |
Het |
Trp53bp1 |
T |
G |
2: 121,066,665 (GRCm39) |
E687A |
probably damaging |
Het |
Ttc27 |
C |
T |
17: 75,046,667 (GRCm39) |
H243Y |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,763,137 (GRCm39) |
V2318D |
possibly damaging |
Het |
Wdr59 |
G |
A |
8: 112,225,228 (GRCm39) |
P141S |
probably damaging |
Het |
Zbed6 |
C |
T |
1: 133,585,556 (GRCm39) |
V594M |
possibly damaging |
Het |
Zfp787 |
C |
A |
7: 6,135,694 (GRCm39) |
G186C |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTGCCATCTGTGCCACAATG -3'
(R):5'- AGAGTGCCAGCAGAGAGATTCACC -3'
Sequencing Primer
(F):5'- GGCCAAACCTGTTTCCTTG -3'
(R):5'- CCAAGGAACTTGTCTGTACAATC -3'
|
Posted On |
2014-03-14 |