Incidental Mutation 'R6500:Adam21'
ID |
519687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam21
|
Ensembl Gene |
ENSMUSG00000008438 |
Gene Name |
a disintegrin and metallopeptidase domain 21 |
Synonyms |
ADAM31 |
MMRRC Submission |
044632-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6500 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81605358-81615248 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81606380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 461
(F461L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008582]
|
AlphaFold |
Q9JI76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008582
AA Change: F461L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000008582 Gene: ENSMUSG00000008438 AA Change: F461L
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (53/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
C |
A |
7: 82,227,818 (GRCm39) |
H1334Q |
probably benign |
Het |
Adgrf1 |
A |
G |
17: 43,621,263 (GRCm39) |
N500S |
probably damaging |
Het |
Afdn |
A |
G |
17: 14,042,634 (GRCm39) |
D335G |
possibly damaging |
Het |
Arhgap19 |
G |
A |
19: 41,775,077 (GRCm39) |
T178M |
probably damaging |
Het |
Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
Clhc1 |
T |
C |
11: 29,510,542 (GRCm39) |
S209P |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
Coro2b |
A |
G |
9: 62,396,606 (GRCm39) |
F51L |
probably benign |
Het |
Cux2 |
A |
G |
5: 122,002,789 (GRCm39) |
S1139P |
probably benign |
Het |
Cyth3 |
A |
T |
5: 143,693,595 (GRCm39) |
I379F |
probably damaging |
Het |
Dock2 |
A |
T |
11: 34,312,822 (GRCm39) |
L240H |
possibly damaging |
Het |
Ercc6 |
A |
G |
14: 32,248,780 (GRCm39) |
K444E |
probably damaging |
Het |
Fam3b |
A |
G |
16: 97,302,101 (GRCm39) |
L52P |
possibly damaging |
Het |
Fat4 |
T |
G |
3: 39,035,418 (GRCm39) |
Y3023* |
probably null |
Het |
Gad1 |
A |
T |
2: 70,423,780 (GRCm39) |
N396Y |
probably damaging |
Het |
Gbp2b |
A |
G |
3: 142,317,252 (GRCm39) |
E536G |
probably benign |
Het |
Gm11564 |
G |
A |
11: 99,706,061 (GRCm39) |
T123I |
unknown |
Het |
Herc2 |
G |
T |
7: 55,796,393 (GRCm39) |
E1922* |
probably null |
Het |
Hrh4 |
G |
T |
18: 13,155,525 (GRCm39) |
V355F |
probably damaging |
Het |
Isyna1 |
A |
G |
8: 71,047,339 (GRCm39) |
I21V |
probably damaging |
Het |
Jak1 |
T |
C |
4: 101,039,130 (GRCm39) |
D165G |
probably benign |
Het |
Klhl38 |
C |
A |
15: 58,185,809 (GRCm39) |
G307* |
probably null |
Het |
Krt77 |
T |
C |
15: 101,772,772 (GRCm39) |
N269S |
probably damaging |
Het |
Lrp4 |
T |
A |
2: 91,322,765 (GRCm39) |
I1118N |
possibly damaging |
Het |
Ly6i |
T |
C |
15: 74,853,833 (GRCm39) |
Y30C |
probably damaging |
Het |
Magi2 |
A |
G |
5: 20,807,345 (GRCm39) |
E620G |
possibly damaging |
Het |
Mbl2 |
A |
G |
19: 30,216,839 (GRCm39) |
D217G |
possibly damaging |
Het |
Mogat2 |
T |
A |
7: 98,871,553 (GRCm39) |
I253F |
probably benign |
Het |
Mpped2 |
T |
C |
2: 106,691,925 (GRCm39) |
L210P |
probably damaging |
Het |
Nav3 |
C |
A |
10: 109,600,617 (GRCm39) |
A1337S |
probably damaging |
Het |
Ncaph2 |
T |
A |
15: 89,248,407 (GRCm39) |
V206E |
probably benign |
Het |
Nlgn1 |
T |
C |
3: 25,488,094 (GRCm39) |
E747G |
possibly damaging |
Het |
Nlrc3 |
C |
T |
16: 3,770,308 (GRCm39) |
G237D |
possibly damaging |
Het |
Nsun7 |
A |
G |
5: 66,452,827 (GRCm39) |
D514G |
probably benign |
Het |
Or10al5 |
C |
G |
17: 38,063,577 (GRCm39) |
D277E |
probably damaging |
Het |
Pals2 |
A |
G |
6: 50,175,146 (GRCm39) |
K500E |
possibly damaging |
Het |
Pcnx2 |
C |
A |
8: 126,480,224 (GRCm39) |
V2028F |
probably damaging |
Het |
Pdx1 |
G |
T |
5: 147,207,440 (GRCm39) |
W131L |
probably damaging |
Het |
Pkdrej |
C |
T |
15: 85,703,747 (GRCm39) |
V730I |
probably damaging |
Het |
Plcg1 |
T |
A |
2: 160,596,487 (GRCm39) |
Y669N |
probably damaging |
Het |
Plpp1 |
G |
T |
13: 113,003,454 (GRCm39) |
W226L |
probably damaging |
Het |
Sfxn1 |
G |
A |
13: 54,242,918 (GRCm39) |
V59I |
probably benign |
Het |
Shank1 |
T |
C |
7: 43,976,645 (GRCm39) |
I581T |
unknown |
Het |
Slc35f6 |
A |
C |
5: 30,814,164 (GRCm39) |
K150N |
possibly damaging |
Het |
Slc5a7 |
A |
T |
17: 54,591,231 (GRCm39) |
S234T |
probably benign |
Het |
Smg6 |
C |
T |
11: 74,821,331 (GRCm39) |
T534I |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,573,724 (GRCm39) |
T3649I |
probably benign |
Het |
Vmn1r158 |
T |
C |
7: 22,490,078 (GRCm39) |
T44A |
possibly damaging |
Het |
Vmn1r217 |
A |
T |
13: 23,298,073 (GRCm39) |
Y276* |
probably null |
Het |
Vmn2r100 |
T |
A |
17: 19,742,355 (GRCm39) |
I243N |
probably damaging |
Het |
Vwde |
T |
C |
6: 13,208,404 (GRCm39) |
|
probably null |
Het |
Washc4 |
C |
A |
10: 83,394,687 (GRCm39) |
P306T |
probably damaging |
Het |
Wdhd1 |
C |
T |
14: 47,488,217 (GRCm39) |
|
probably null |
Het |
Xpo6 |
T |
C |
7: 125,770,262 (GRCm39) |
|
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 |
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'- TTATGAGATGCGCTTCTTGCAC -3'
(R):5'- TACAATCATCCAAGACCAGGGG -3'
Sequencing Primer
(F):5'- AAAAATCTCCCTGCACTGTTGG -3'
(R):5'- CAAGACCAGGGGCAGGTTTC -3'
|
Posted On |
2018-06-06 |