Incidental Mutation 'R8469:Adam28'
ID |
656963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam28
|
Ensembl Gene |
ENSMUSG00000014725 |
Gene Name |
a disintegrin and metallopeptidase domain 28 |
Synonyms |
MDC-L, D430033C21Rik, Dtgn1, C130072N01Rik |
MMRRC Submission |
067913-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
R8469 (G1)
|
Quality Score |
207.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 68844029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 774
(V774I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106701
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022642]
[ENSMUST00000111072]
[ENSMUST00000224039]
|
AlphaFold |
Q9JLN6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022642
|
SMART Domains |
Protein: ENSMUSP00000022642 Gene: ENSMUSG00000014725
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
31 |
158 |
5.5e-34 |
PFAM |
Pfam:Reprolysin_4
|
205 |
387 |
1.5e-14 |
PFAM |
Pfam:Reprolysin_5
|
205 |
388 |
9.7e-19 |
PFAM |
Pfam:Reprolysin
|
206 |
402 |
5.6e-70 |
PFAM |
Pfam:Reprolysin_2
|
226 |
392 |
1e-16 |
PFAM |
Pfam:Reprolysin_3
|
230 |
353 |
1.2e-21 |
PFAM |
DISIN
|
419 |
494 |
2.1e-36 |
SMART |
ACR
|
495 |
623 |
1.84e-52 |
SMART |
EGF
|
631 |
660 |
3.01e0 |
SMART |
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
low complexity region
|
738 |
753 |
N/A |
INTRINSIC |
low complexity region
|
757 |
765 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111072
AA Change: V774I
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000106701 Gene: ENSMUSG00000014725 AA Change: V774I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
31 |
158 |
5.3e-34 |
PFAM |
Pfam:Reprolysin_4
|
205 |
387 |
1.5e-14 |
PFAM |
Pfam:Reprolysin_5
|
205 |
388 |
9.3e-19 |
PFAM |
Pfam:Reprolysin
|
206 |
402 |
5.3e-70 |
PFAM |
Pfam:Reprolysin_2
|
226 |
392 |
9.9e-17 |
PFAM |
Pfam:Reprolysin_3
|
230 |
353 |
1.1e-21 |
PFAM |
DISIN
|
419 |
494 |
2.1e-36 |
SMART |
ACR
|
495 |
623 |
1.84e-52 |
SMART |
EGF
|
631 |
660 |
3.01e0 |
SMART |
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
low complexity region
|
738 |
753 |
N/A |
INTRINSIC |
low complexity region
|
757 |
765 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224039
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (41/42) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are typically membrane-anchored, although a form of this protein may be secreted. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a mature protein product. This protein may bind to integrins and regulate lymphocyte migration by enhancing cell adhesion. [provided by RefSeq, Aug 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
A |
G |
16: 90,852,797 (GRCm39) |
F113S |
probably damaging |
Het |
Abcd4 |
A |
G |
12: 84,659,190 (GRCm39) |
Y189H |
probably damaging |
Het |
Actn1 |
T |
C |
12: 80,240,457 (GRCm39) |
D210G |
possibly damaging |
Het |
Anapc1 |
A |
T |
2: 128,500,264 (GRCm39) |
|
probably null |
Het |
Atg2b |
A |
T |
12: 105,604,170 (GRCm39) |
I1577N |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,978,834 (GRCm39) |
S827P |
possibly damaging |
Het |
Carmil1 |
A |
T |
13: 24,296,011 (GRCm39) |
C377S |
probably damaging |
Het |
Cplx4 |
T |
C |
18: 66,090,083 (GRCm39) |
E112G |
possibly damaging |
Het |
Cyp4f39 |
C |
A |
17: 32,711,340 (GRCm39) |
R496S |
probably damaging |
Het |
Dmgdh |
G |
A |
13: 93,843,175 (GRCm39) |
R337Q |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,813,895 (GRCm39) |
F345S |
probably damaging |
Het |
Dst |
A |
G |
1: 34,268,109 (GRCm39) |
R2844G |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,845,186 (GRCm39) |
I353L |
unknown |
Het |
Fam78a |
A |
G |
2: 31,959,345 (GRCm39) |
V255A |
possibly damaging |
Het |
Ino80 |
T |
A |
2: 119,210,074 (GRCm39) |
I1406L |
probably benign |
Het |
Itga11 |
T |
C |
9: 62,678,680 (GRCm39) |
F949S |
probably benign |
Het |
Jmjd7 |
G |
A |
2: 119,860,643 (GRCm39) |
A57T |
possibly damaging |
Het |
Krt1c |
T |
C |
15: 101,724,804 (GRCm39) |
T269A |
probably benign |
Het |
Lgi4 |
A |
T |
7: 30,767,065 (GRCm39) |
D364V |
probably damaging |
Het |
Lrp12 |
T |
C |
15: 39,735,791 (GRCm39) |
T733A |
probably damaging |
Het |
Marchf7 |
T |
A |
2: 60,064,670 (GRCm39) |
N315K |
probably benign |
Het |
Methig1 |
A |
G |
15: 100,251,130 (GRCm39) |
I14V |
probably benign |
Het |
Mtmr3 |
A |
T |
11: 4,481,223 (GRCm39) |
M1K |
probably null |
Het |
Nras |
A |
G |
3: 102,966,217 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,425,366 (GRCm39) |
T1508A |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,019,063 (GRCm39) |
T917A |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,090,347 (GRCm39) |
V21A |
possibly damaging |
Het |
Pcdha5 |
T |
A |
18: 37,094,798 (GRCm39) |
W436R |
probably benign |
Het |
Pde4d |
T |
C |
13: 108,996,722 (GRCm39) |
V8A |
probably benign |
Het |
Pou4f3 |
C |
T |
18: 42,528,339 (GRCm39) |
T94M |
probably benign |
Het |
Prdm6 |
G |
T |
18: 53,597,758 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
T |
C |
12: 55,786,198 (GRCm39) |
R674G |
probably damaging |
Het |
Rcc1 |
A |
G |
4: 132,061,445 (GRCm39) |
S368P |
probably damaging |
Het |
Rcn2 |
T |
A |
9: 55,952,485 (GRCm39) |
V110E |
probably benign |
Het |
Reep4 |
T |
A |
14: 70,783,180 (GRCm39) |
|
probably null |
Het |
Rrbp1 |
T |
C |
2: 143,831,661 (GRCm39) |
I169V |
probably damaging |
Het |
Slc2a6 |
T |
C |
2: 26,914,347 (GRCm39) |
S257G |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,982,627 (GRCm39) |
R612G |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,340,434 (GRCm39) |
T529A |
probably benign |
Het |
Triobp |
A |
G |
15: 78,851,219 (GRCm39) |
S458G |
probably benign |
Het |
Zfp729a |
G |
T |
13: 67,769,481 (GRCm39) |
H249Q |
probably damaging |
Het |
Zfp940 |
A |
G |
7: 29,544,572 (GRCm39) |
I445T |
possibly damaging |
Het |
|
Other mutations in Adam28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Adam28
|
APN |
14 |
68,859,569 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL00654:Adam28
|
APN |
14 |
68,886,877 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01021:Adam28
|
APN |
14 |
68,879,563 (GRCm39) |
missense |
probably benign |
|
IGL01099:Adam28
|
APN |
14 |
68,874,778 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01349:Adam28
|
APN |
14 |
68,848,455 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01744:Adam28
|
APN |
14 |
68,844,956 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01805:Adam28
|
APN |
14 |
68,879,540 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02007:Adam28
|
APN |
14 |
68,870,668 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02828:Adam28
|
APN |
14 |
68,884,319 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03180:Adam28
|
APN |
14 |
68,874,883 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Adam28
|
APN |
14 |
68,872,252 (GRCm39) |
splice site |
probably benign |
|
IGL02980:Adam28
|
UTSW |
14 |
68,857,255 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4453001:Adam28
|
UTSW |
14 |
68,872,325 (GRCm39) |
missense |
probably benign |
0.00 |
R0184:Adam28
|
UTSW |
14 |
68,874,822 (GRCm39) |
missense |
probably benign |
0.33 |
R0321:Adam28
|
UTSW |
14 |
68,855,200 (GRCm39) |
missense |
probably damaging |
0.97 |
R0329:Adam28
|
UTSW |
14 |
68,855,188 (GRCm39) |
missense |
probably damaging |
0.96 |
R0494:Adam28
|
UTSW |
14 |
68,868,241 (GRCm39) |
splice site |
probably benign |
|
R0605:Adam28
|
UTSW |
14 |
68,844,049 (GRCm39) |
unclassified |
probably benign |
|
R0732:Adam28
|
UTSW |
14 |
68,874,796 (GRCm39) |
missense |
probably benign |
0.00 |
R0959:Adam28
|
UTSW |
14 |
68,845,387 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1319:Adam28
|
UTSW |
14 |
68,846,578 (GRCm39) |
missense |
probably benign |
0.28 |
R1745:Adam28
|
UTSW |
14 |
68,870,620 (GRCm39) |
missense |
probably benign |
0.04 |
R1836:Adam28
|
UTSW |
14 |
68,886,870 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1838:Adam28
|
UTSW |
14 |
68,876,659 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1839:Adam28
|
UTSW |
14 |
68,876,659 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1850:Adam28
|
UTSW |
14 |
68,876,644 (GRCm39) |
missense |
probably benign |
0.01 |
R1912:Adam28
|
UTSW |
14 |
68,881,780 (GRCm39) |
missense |
probably benign |
0.24 |
R2830:Adam28
|
UTSW |
14 |
68,864,363 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2889:Adam28
|
UTSW |
14 |
68,872,294 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3977:Adam28
|
UTSW |
14 |
68,848,443 (GRCm39) |
missense |
probably benign |
0.20 |
R3978:Adam28
|
UTSW |
14 |
68,848,443 (GRCm39) |
missense |
probably benign |
0.20 |
R3979:Adam28
|
UTSW |
14 |
68,848,443 (GRCm39) |
missense |
probably benign |
0.20 |
R4282:Adam28
|
UTSW |
14 |
68,885,155 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4416:Adam28
|
UTSW |
14 |
68,859,531 (GRCm39) |
critical splice donor site |
probably null |
|
R4690:Adam28
|
UTSW |
14 |
68,879,497 (GRCm39) |
missense |
probably benign |
0.01 |
R4724:Adam28
|
UTSW |
14 |
68,864,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R4768:Adam28
|
UTSW |
14 |
68,872,264 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4883:Adam28
|
UTSW |
14 |
68,875,552 (GRCm39) |
missense |
probably damaging |
0.99 |
R5054:Adam28
|
UTSW |
14 |
68,855,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R5710:Adam28
|
UTSW |
14 |
68,847,357 (GRCm39) |
missense |
probably damaging |
0.96 |
R5835:Adam28
|
UTSW |
14 |
68,893,130 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6002:Adam28
|
UTSW |
14 |
68,879,511 (GRCm39) |
missense |
probably benign |
|
R6054:Adam28
|
UTSW |
14 |
68,879,601 (GRCm39) |
missense |
probably benign |
0.01 |
R6349:Adam28
|
UTSW |
14 |
68,870,621 (GRCm39) |
missense |
probably benign |
0.29 |
R6449:Adam28
|
UTSW |
14 |
68,868,116 (GRCm39) |
missense |
probably benign |
0.31 |
R6455:Adam28
|
UTSW |
14 |
68,870,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R6831:Adam28
|
UTSW |
14 |
68,855,576 (GRCm39) |
missense |
probably benign |
0.04 |
R6833:Adam28
|
UTSW |
14 |
68,855,576 (GRCm39) |
missense |
probably benign |
0.04 |
R7212:Adam28
|
UTSW |
14 |
68,874,846 (GRCm39) |
missense |
probably damaging |
0.99 |
R7411:Adam28
|
UTSW |
14 |
68,864,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R7422:Adam28
|
UTSW |
14 |
68,864,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Adam28
|
UTSW |
14 |
68,868,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R7649:Adam28
|
UTSW |
14 |
68,872,282 (GRCm39) |
missense |
probably benign |
0.12 |
R7765:Adam28
|
UTSW |
14 |
68,846,555 (GRCm39) |
critical splice donor site |
probably null |
|
R8520:Adam28
|
UTSW |
14 |
68,879,532 (GRCm39) |
missense |
probably damaging |
0.98 |
R9026:Adam28
|
UTSW |
14 |
68,846,593 (GRCm39) |
missense |
probably benign |
0.16 |
R9163:Adam28
|
UTSW |
14 |
68,866,531 (GRCm39) |
missense |
probably damaging |
0.98 |
R9264:Adam28
|
UTSW |
14 |
68,844,914 (GRCm39) |
missense |
probably benign |
|
R9304:Adam28
|
UTSW |
14 |
68,874,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R9357:Adam28
|
UTSW |
14 |
68,879,479 (GRCm39) |
missense |
probably benign |
0.36 |
R9441:Adam28
|
UTSW |
14 |
68,874,943 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Adam28
|
UTSW |
14 |
68,864,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCATGTCCTTAGGAATATGG -3'
(R):5'- GACATACATCCTGACCTTCTGCTAC -3'
Sequencing Primer
(F):5'- CCATGTCCTTAGGAATATGGAAAGG -3'
(R):5'- GGATGCTATGATCATCTGAG -3'
|
Posted On |
2021-01-18 |