Incidental Mutation 'R5831:Adam21'
| ID |
449325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam21
|
| Ensembl Gene |
ENSMUSG00000008438 |
| Gene Name |
a disintegrin and metallopeptidase domain 21 |
| Synonyms |
ADAM31 |
| MMRRC Submission |
043220-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5831 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81605358-81615248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81605875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 629
(V629A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008582]
|
| AlphaFold |
Q9JI76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008582
AA Change: V629A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: V629A
| 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: 99.7%
- 10x: 98.8%
- 20x: 96.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,517,777 (GRCm39) |
K4460* |
probably null |
Het |
| Adamts5 |
C |
T |
16: 85,665,006 (GRCm39) |
V653I |
probably damaging |
Het |
| Adarb2 |
G |
A |
13: 8,609,169 (GRCm39) |
A44T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,132,808 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,024 (GRCm39) |
Y833C |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,820,636 (GRCm39) |
S1297P |
probably damaging |
Het |
| Cdc25b |
G |
T |
2: 131,029,301 (GRCm39) |
|
probably null |
Het |
| Ciart |
A |
T |
3: 95,786,214 (GRCm39) |
V287D |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,213,650 (GRCm39) |
F353S |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,119,592 (GRCm39) |
E1717K |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,421,611 (GRCm39) |
K82R |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,998,947 (GRCm39) |
T1034S |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,714,332 (GRCm39) |
E1837G |
probably damaging |
Het |
| Eeig2 |
A |
T |
3: 108,900,019 (GRCm39) |
S110T |
possibly damaging |
Het |
| Flg2 |
G |
A |
3: 93,107,541 (GRCm39) |
V9I |
probably damaging |
Het |
| Hif1a |
A |
T |
12: 73,988,918 (GRCm39) |
T602S |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,440,117 (GRCm39) |
E1015G |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Irgq |
C |
A |
7: 24,232,763 (GRCm39) |
F201L |
probably damaging |
Het |
| Isoc2b |
C |
A |
7: 4,854,023 (GRCm39) |
L116F |
probably null |
Het |
| Loxl3 |
A |
T |
6: 83,025,999 (GRCm39) |
T416S |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,746,798 (GRCm39) |
*960W |
probably null |
Het |
| Morn1 |
A |
G |
4: 155,185,733 (GRCm39) |
H183R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,313,523 (GRCm39) |
N918I |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,679,540 (GRCm39) |
V763A |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,439 (GRCm39) |
|
probably null |
Het |
| Or4c100 |
G |
A |
2: 88,356,824 (GRCm39) |
W299* |
probably null |
Het |
| Papola |
A |
G |
12: 105,789,859 (GRCm39) |
K482E |
probably benign |
Het |
| Pck1 |
C |
T |
2: 172,998,792 (GRCm39) |
T350I |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,405,727 (GRCm39) |
A51T |
probably damaging |
Het |
| Preb |
T |
C |
5: 31,116,208 (GRCm39) |
H133R |
probably benign |
Het |
| Rpl36-ps4 |
T |
C |
17: 88,228,685 (GRCm39) |
V73A |
probably benign |
Het |
| Scaf11 |
G |
A |
15: 96,314,962 (GRCm39) |
P1240L |
probably benign |
Het |
| Selenom |
G |
T |
11: 3,466,882 (GRCm39) |
E81* |
probably null |
Het |
| Serpinb1c |
T |
C |
13: 33,081,081 (GRCm39) |
M1V |
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,615,685 (GRCm39) |
S231P |
possibly damaging |
Het |
| Trappc10 |
C |
T |
10: 78,045,260 (GRCm39) |
R476Q |
probably damaging |
Het |
| Twf2 |
T |
A |
9: 106,091,386 (GRCm39) |
D200E |
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn2r71 |
G |
A |
7: 85,272,922 (GRCm39) |
D579N |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,349 (GRCm39) |
E33V |
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 |
|
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 |
|
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'- GGCACAGTTATTGACAGGACAG -3'
(R):5'- TGGCACAGTATTCCTAAAATGCAG -3'
Sequencing Primer
(F):5'- GACAGGACAGTGATAATGACTCTTC -3'
(R):5'- CCTAAAATGCAGAATGTCAGATGTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation