Incidental Mutation 'R5724:Adam5'
ID |
452384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam5
|
Ensembl Gene |
ENSMUSG00000031554 |
Gene Name |
a disintegrin and metallopeptidase domain 5 |
Synonyms |
tMDCII |
MMRRC Submission |
043342-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5724 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 25294511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 363
(K363*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
AlphaFold |
Q3TTE0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000050300
AA Change: K363*
|
SMART Domains |
Protein: ENSMUSP00000052661 Gene: ENSMUSG00000031554 AA Change: K363*
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
16 |
142 |
1.6e-19 |
PFAM |
Pfam:Reprolysin
|
185 |
378 |
7.7e-59 |
PFAM |
DISIN
|
397 |
474 |
9.1e-42 |
SMART |
ACR
|
475 |
618 |
6.9e-58 |
SMART |
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
low complexity region
|
718 |
751 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000118419
AA Change: K363*
|
SMART Domains |
Protein: ENSMUSP00000112422 Gene: ENSMUSG00000031554 AA Change: K363*
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
16 |
142 |
4.7e-30 |
PFAM |
Pfam:Reprolysin
|
185 |
378 |
7.9e-56 |
PFAM |
DISIN
|
397 |
474 |
1.78e-39 |
SMART |
ACR
|
475 |
618 |
2.06e-55 |
SMART |
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
low complexity region
|
718 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130939
|
Predicted Effect |
probably null
Transcript: ENSMUST00000132180
AA Change: K280*
|
SMART Domains |
Protein: ENSMUSP00000121272 Gene: ENSMUSG00000031554 AA Change: K280*
Domain | Start | End | E-Value | Type |
Pfam:Pep_M12B_propep
|
1 |
60 |
6.7e-14 |
PFAM |
Pfam:Reprolysin
|
103 |
296 |
2.5e-61 |
PFAM |
DISIN
|
315 |
392 |
1.78e-39 |
SMART |
ACR
|
393 |
536 |
2.06e-55 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000209935
AA Change: K363*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
100% (62/62) |
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 protein. This gene is located in a cluster of related ADAM genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3830408C21Rik |
A |
T |
13: 107,168,905 (GRCm39) |
|
noncoding transcript |
Het |
Adamts12 |
T |
C |
15: 11,286,836 (GRCm39) |
Y814H |
probably benign |
Het |
Adar |
G |
T |
3: 89,642,476 (GRCm39) |
G119V |
probably benign |
Het |
Adprs |
G |
T |
4: 126,211,869 (GRCm39) |
Q148K |
probably damaging |
Het |
Atr |
G |
T |
9: 95,748,641 (GRCm39) |
L395F |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,176,192 (GRCm39) |
I1946V |
possibly damaging |
Het |
Bend4 |
T |
A |
5: 67,575,284 (GRCm39) |
D199V |
probably damaging |
Het |
Bpifb1 |
C |
A |
2: 154,046,712 (GRCm39) |
H77Q |
probably benign |
Het |
Clca3a1 |
T |
C |
3: 144,714,833 (GRCm39) |
T595A |
probably benign |
Het |
Crebbp |
A |
T |
16: 3,905,499 (GRCm39) |
|
probably benign |
Het |
Cxcl16 |
T |
C |
11: 70,349,990 (GRCm39) |
D12G |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,819,090 (GRCm39) |
W459R |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,099,785 (GRCm39) |
L636P |
probably damaging |
Het |
Eif2ak3 |
A |
G |
6: 70,853,824 (GRCm39) |
T197A |
probably benign |
Het |
Fbxo40 |
T |
A |
16: 36,790,692 (GRCm39) |
R139S |
probably benign |
Het |
Fer |
C |
A |
17: 64,231,152 (GRCm39) |
T301K |
probably damaging |
Het |
Fgf21 |
A |
T |
7: 45,264,729 (GRCm39) |
M1K |
probably null |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Gm38706 |
A |
T |
6: 130,459,963 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q6 |
A |
C |
17: 35,644,628 (GRCm39) |
Y139S |
probably damaging |
Het |
Ift70a2 |
T |
C |
2: 75,808,074 (GRCm39) |
D146G |
probably benign |
Het |
Igkv4-53 |
A |
T |
6: 69,625,991 (GRCm39) |
Y59N |
probably damaging |
Het |
Jrkl |
T |
C |
9: 13,244,891 (GRCm39) |
M257V |
possibly damaging |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Klhl26 |
T |
A |
8: 70,904,404 (GRCm39) |
Y468F |
probably damaging |
Het |
Lamb2 |
T |
A |
9: 108,357,950 (GRCm39) |
|
probably null |
Het |
Lcp1 |
A |
G |
14: 75,464,422 (GRCm39) |
T548A |
probably benign |
Het |
Lct |
T |
A |
1: 128,228,073 (GRCm39) |
Q1140L |
probably benign |
Het |
Lrp2 |
T |
G |
2: 69,281,726 (GRCm39) |
N3882H |
probably damaging |
Het |
Magi1 |
A |
G |
6: 93,657,852 (GRCm39) |
I1126T |
probably benign |
Het |
Magi1 |
A |
G |
6: 93,722,682 (GRCm39) |
S399P |
probably damaging |
Het |
Med16 |
A |
G |
10: 79,731,243 (GRCm39) |
C825R |
probably damaging |
Het |
Mtx3 |
C |
T |
13: 92,984,095 (GRCm39) |
P124L |
probably damaging |
Het |
Nabp2 |
C |
T |
10: 128,245,555 (GRCm39) |
|
probably benign |
Het |
Or5b113 |
T |
A |
19: 13,342,515 (GRCm39) |
H174Q |
possibly damaging |
Het |
Pak4 |
A |
T |
7: 28,264,005 (GRCm39) |
S244T |
possibly damaging |
Het |
Pccb |
C |
T |
9: 100,869,900 (GRCm39) |
V307I |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,874,233 (GRCm39) |
D506G |
probably benign |
Het |
Plk4 |
T |
C |
3: 40,755,481 (GRCm39) |
V26A |
probably damaging |
Het |
Ppp2r3c |
A |
T |
12: 55,344,617 (GRCm39) |
M117K |
probably benign |
Het |
Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
Pspc1 |
C |
T |
14: 57,015,529 (GRCm39) |
E30K |
probably benign |
Het |
Reps1 |
A |
G |
10: 17,990,231 (GRCm39) |
S448G |
possibly damaging |
Het |
Rnf34 |
C |
T |
5: 123,004,952 (GRCm39) |
Q241* |
probably null |
Het |
Sgta |
A |
T |
10: 80,883,522 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Siglech |
A |
G |
7: 55,418,293 (GRCm39) |
N87S |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,094,113 (GRCm39) |
I392T |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,841,174 (GRCm39) |
M21K |
probably benign |
Het |
Sugp1 |
C |
T |
8: 70,522,799 (GRCm39) |
R500C |
probably damaging |
Het |
Tasp1 |
T |
C |
2: 139,899,339 (GRCm39) |
K5E |
probably damaging |
Het |
Tbx3 |
G |
A |
5: 119,813,668 (GRCm39) |
V235I |
possibly damaging |
Het |
Toporsl |
A |
T |
4: 52,611,346 (GRCm39) |
N413I |
probably damaging |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Zfp60 |
A |
G |
7: 27,447,758 (GRCm39) |
Y142C |
probably benign |
Het |
|
Other mutations in Adam5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00823:Adam5
|
APN |
8 |
25,308,758 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01285:Adam5
|
APN |
8 |
25,271,610 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01310:Adam5
|
APN |
8 |
25,232,150 (GRCm39) |
intron |
probably benign |
|
IGL01510:Adam5
|
APN |
8 |
25,294,481 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01570:Adam5
|
APN |
8 |
25,300,839 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02017:Adam5
|
APN |
8 |
25,271,775 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02191:Adam5
|
APN |
8 |
25,302,439 (GRCm39) |
nonsense |
probably null |
|
IGL02397:Adam5
|
APN |
8 |
25,234,149 (GRCm39) |
intron |
probably benign |
|
IGL02488:Adam5
|
APN |
8 |
25,282,022 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02490:Adam5
|
APN |
8 |
25,271,720 (GRCm39) |
nonsense |
probably null |
|
IGL02499:Adam5
|
APN |
8 |
25,271,581 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02539:Adam5
|
APN |
8 |
25,276,229 (GRCm39) |
nonsense |
probably null |
|
IGL02590:Adam5
|
APN |
8 |
25,234,151 (GRCm39) |
intron |
probably benign |
|
IGL02677:Adam5
|
APN |
8 |
25,302,395 (GRCm39) |
splice site |
probably benign |
|
IGL02679:Adam5
|
APN |
8 |
25,296,542 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02982:Adam5
|
APN |
8 |
25,294,447 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03146:Adam5
|
APN |
8 |
25,294,519 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03162:Adam5
|
APN |
8 |
25,271,620 (GRCm39) |
missense |
probably benign |
0.30 |
IGL03284:Adam5
|
APN |
8 |
25,276,354 (GRCm39) |
splice site |
probably benign |
|
R0081:Adam5
|
UTSW |
8 |
25,271,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R0377:Adam5
|
UTSW |
8 |
25,237,557 (GRCm39) |
missense |
probably benign |
0.08 |
R0398:Adam5
|
UTSW |
8 |
25,303,448 (GRCm39) |
missense |
probably benign |
0.17 |
R0771:Adam5
|
UTSW |
8 |
25,276,315 (GRCm39) |
missense |
probably benign |
0.04 |
R0925:Adam5
|
UTSW |
8 |
25,302,441 (GRCm39) |
missense |
probably benign |
0.09 |
R1547:Adam5
|
UTSW |
8 |
25,300,729 (GRCm39) |
missense |
probably benign |
0.10 |
R1985:Adam5
|
UTSW |
8 |
25,236,755 (GRCm39) |
missense |
probably benign |
0.01 |
R2115:Adam5
|
UTSW |
8 |
25,234,161 (GRCm39) |
intron |
probably benign |
|
R2125:Adam5
|
UTSW |
8 |
25,305,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Adam5
|
UTSW |
8 |
25,305,496 (GRCm39) |
missense |
probably benign |
0.14 |
R3151:Adam5
|
UTSW |
8 |
25,271,647 (GRCm39) |
missense |
probably damaging |
0.99 |
R3612:Adam5
|
UTSW |
8 |
25,308,105 (GRCm39) |
splice site |
probably benign |
|
R3844:Adam5
|
UTSW |
8 |
25,303,426 (GRCm39) |
missense |
probably benign |
0.12 |
R3873:Adam5
|
UTSW |
8 |
25,305,125 (GRCm39) |
missense |
probably benign |
0.02 |
R4514:Adam5
|
UTSW |
8 |
25,308,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R4843:Adam5
|
UTSW |
8 |
25,303,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R4866:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
R4866:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R4900:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R4900:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
R4903:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Adam5
|
UTSW |
8 |
25,276,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R5259:Adam5
|
UTSW |
8 |
25,300,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5293:Adam5
|
UTSW |
8 |
25,300,722 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5859:Adam5
|
UTSW |
8 |
25,303,477 (GRCm39) |
missense |
probably benign |
|
R6004:Adam5
|
UTSW |
8 |
25,271,685 (GRCm39) |
missense |
probably benign |
0.04 |
R6175:Adam5
|
UTSW |
8 |
25,276,167 (GRCm39) |
missense |
probably benign |
0.00 |
R6539:Adam5
|
UTSW |
8 |
25,272,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6994:Adam5
|
UTSW |
8 |
25,276,262 (GRCm39) |
nonsense |
probably null |
|
R6996:Adam5
|
UTSW |
8 |
25,296,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R7009:Adam5
|
UTSW |
8 |
25,296,454 (GRCm39) |
missense |
probably benign |
0.00 |
R7115:Adam5
|
UTSW |
8 |
25,271,712 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7127:Adam5
|
UTSW |
8 |
25,300,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Adam5
|
UTSW |
8 |
25,305,541 (GRCm39) |
missense |
probably benign |
0.45 |
R7780:Adam5
|
UTSW |
8 |
25,294,432 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8027:Adam5
|
UTSW |
8 |
25,272,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Adam5
|
UTSW |
8 |
25,303,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R8138:Adam5
|
UTSW |
8 |
25,271,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R8305:Adam5
|
UTSW |
8 |
25,300,719 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8359:Adam5
|
UTSW |
8 |
25,296,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R8480:Adam5
|
UTSW |
8 |
25,294,475 (GRCm39) |
nonsense |
probably null |
|
R8743:Adam5
|
UTSW |
8 |
25,276,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R9000:Adam5
|
UTSW |
8 |
25,294,372 (GRCm39) |
critical splice donor site |
probably null |
|
R9442:Adam5
|
UTSW |
8 |
25,296,510 (GRCm39) |
missense |
probably damaging |
0.96 |
R9474:Adam5
|
UTSW |
8 |
25,237,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9602:Adam5
|
UTSW |
8 |
25,303,402 (GRCm39) |
missense |
probably damaging |
0.96 |
R9748:Adam5
|
UTSW |
8 |
25,301,068 (GRCm39) |
missense |
probably benign |
0.23 |
X0019:Adam5
|
UTSW |
8 |
25,302,459 (GRCm39) |
missense |
probably benign |
0.00 |
X0022:Adam5
|
UTSW |
8 |
25,303,579 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0027:Adam5
|
UTSW |
8 |
25,308,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTTTCTTAGCACTGCACATA -3'
(R):5'- AGCAATCTCATGGCTGTGT -3'
Sequencing Primer
(F):5'- TAGCACTGCACATAAAAACTGAAGTG -3'
(R):5'- GCAATCTCATGGCTGTGTTTAAAAG -3'
|
Posted On |
2017-01-03 |