Incidental Mutation 'R5835:Adam28'
| ID |
449562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam28
|
| Ensembl Gene |
ENSMUSG00000014725 |
| Gene Name |
a disintegrin and metallopeptidase domain 28 |
| Synonyms |
D430033C21Rik, C130072N01Rik, MDC-L, Dtgn1 |
| MMRRC Submission |
044056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R5835 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
68606027-68655842 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68655681 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 4
(W4R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022642]
[ENSMUST00000111072]
[ENSMUST00000224039]
[ENSMUST00000225767]
|
| AlphaFold |
Q9JLN6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022642
AA Change: W4R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: W4R
| 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 |
possibly damaging
Transcript: ENSMUST00000111072
AA Change: W4R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: W4R
| 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 |
possibly damaging
Transcript: ENSMUST00000224039
AA Change: W4R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224131
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000225767
AA Change: W4R
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,426,349 (GRCm38) |
V173M |
probably damaging |
Het |
| A2m |
A |
G |
6: 121,639,336 (GRCm38) |
K141R |
probably damaging |
Het |
| Ablim3 |
T |
C |
18: 61,823,922 (GRCm38) |
E278G |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,775,796 (GRCm38) |
N614S |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,160,739 (GRCm38) |
S1182P |
probably damaging |
Het |
| Asb8 |
A |
T |
15: 98,136,382 (GRCm38) |
D97E |
probably damaging |
Het |
| AU041133 |
T |
A |
10: 82,151,212 (GRCm38) |
L232H |
probably damaging |
Het |
| Bmp2k |
T |
G |
5: 97,056,982 (GRCm38) |
V392G |
possibly damaging |
Het |
| Capn12 |
C |
A |
7: 28,881,958 (GRCm38) |
H79N |
probably benign |
Het |
| Casp2 |
C |
A |
6: 42,267,586 (GRCm38) |
S54R |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,140,874 (GRCm38) |
S163P |
possibly damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,638,012 (GRCm38) |
E114G |
probably benign |
Het |
| Cd209c |
C |
A |
8: 3,945,699 (GRCm38) |
M34I |
probably benign |
Het |
| Ceacam18 |
A |
T |
7: 43,636,958 (GRCm38) |
H85L |
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,612,833 (GRCm38) |
A434S |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,975,133 (GRCm38) |
T1581S |
probably benign |
Het |
| Cyb5d2 |
A |
T |
11: 72,789,210 (GRCm38) |
D86E |
probably damaging |
Het |
| Duox1 |
T |
G |
2: 122,327,860 (GRCm38) |
V608G |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,565,387 (GRCm38) |
R425G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,375,833 (GRCm38) |
I798N |
probably damaging |
Het |
| Habp2 |
T |
A |
19: 56,306,786 (GRCm38) |
D36E |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 94,392,239 (GRCm38) |
V207A |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,813,190 (GRCm38) |
I561V |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,561,184 (GRCm38) |
S312F |
probably benign |
Het |
| Igkv18-36 |
A |
G |
6: 69,992,528 (GRCm38) |
I93T |
probably damaging |
Het |
| Kalrn |
T |
G |
16: 33,987,091 (GRCm38) |
E2636A |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,313,146 (GRCm38) |
|
probably null |
Het |
| Mep1a |
G |
A |
17: 43,478,164 (GRCm38) |
H574Y |
probably benign |
Het |
| Myh6 |
T |
C |
14: 54,950,407 (GRCm38) |
K1197E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,002,081 (GRCm38) |
T6780A |
probably benign |
Het |
| Obscn |
C |
T |
11: 59,042,127 (GRCm38) |
V4808M |
probably damaging |
Het |
| Olfr800 |
A |
G |
10: 129,659,934 (GRCm38) |
I43V |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,201,083 (GRCm38) |
D3082G |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,697,522 (GRCm38) |
M1645V |
probably benign |
Het |
| Ppip5k1 |
A |
G |
2: 121,337,899 (GRCm38) |
V674A |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,206,473 (GRCm38) |
S619T |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,148,238 (GRCm38) |
H714L |
probably benign |
Het |
| Rybp |
A |
G |
6: 100,233,190 (GRCm38) |
Y70H |
possibly damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,446,244 (GRCm38) |
K234R |
possibly damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,777,450 (GRCm38) |
N481S |
probably damaging |
Het |
| Slc44a3 |
T |
G |
3: 121,527,200 (GRCm38) |
I51L |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 108,911,572 (GRCm38) |
F569S |
possibly damaging |
Het |
| Smurf2 |
A |
T |
11: 106,836,148 (GRCm38) |
N451K |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,738,219 (GRCm38) |
D1075E |
probably damaging |
Het |
| Syngap1 |
A |
T |
17: 26,958,218 (GRCm38) |
H65L |
probably benign |
Het |
| Tdrd12 |
T |
C |
7: 35,529,264 (GRCm38) |
D11G |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,519,913 (GRCm38) |
A926T |
unknown |
Het |
| Tm7sf2 |
A |
G |
19: 6,063,884 (GRCm38) |
F209S |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,118,840 (GRCm38) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,514,036 (GRCm38) |
L630H |
probably damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,527,820 (GRCm38) |
I117T |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,456,655 (GRCm38) |
R1373L |
unknown |
Het |
|
| Other mutations in Adam28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Adam28
|
APN |
14 |
68,622,120 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL00654:Adam28
|
APN |
14 |
68,649,428 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01021:Adam28
|
APN |
14 |
68,642,114 (GRCm38) |
missense |
probably benign |
|
|
IGL01099:Adam28
|
APN |
14 |
68,637,329 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01349:Adam28
|
APN |
14 |
68,611,006 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01744:Adam28
|
APN |
14 |
68,607,507 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01805:Adam28
|
APN |
14 |
68,642,091 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02007:Adam28
|
APN |
14 |
68,633,219 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL02828:Adam28
|
APN |
14 |
68,646,870 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL03180:Adam28
|
APN |
14 |
68,637,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03355:Adam28
|
APN |
14 |
68,634,803 (GRCm38) |
splice site |
probably benign |
|
|
IGL02980:Adam28
|
UTSW |
14 |
68,619,806 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4453001:Adam28
|
UTSW |
14 |
68,634,876 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0184:Adam28
|
UTSW |
14 |
68,637,373 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0321:Adam28
|
UTSW |
14 |
68,617,751 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0329:Adam28
|
UTSW |
14 |
68,617,739 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0494:Adam28
|
UTSW |
14 |
68,630,792 (GRCm38) |
splice site |
probably benign |
|
|
R0605:Adam28
|
UTSW |
14 |
68,606,600 (GRCm38) |
unclassified |
probably benign |
|
|
R0732:Adam28
|
UTSW |
14 |
68,637,347 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0959:Adam28
|
UTSW |
14 |
68,607,938 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1319:Adam28
|
UTSW |
14 |
68,609,129 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1745:Adam28
|
UTSW |
14 |
68,633,171 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1836:Adam28
|
UTSW |
14 |
68,649,421 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1838:Adam28
|
UTSW |
14 |
68,639,210 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1839:Adam28
|
UTSW |
14 |
68,639,210 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1850:Adam28
|
UTSW |
14 |
68,639,195 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1912:Adam28
|
UTSW |
14 |
68,644,331 (GRCm38) |
missense |
probably benign |
0.24 |
|
R2830:Adam28
|
UTSW |
14 |
68,626,914 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2889:Adam28
|
UTSW |
14 |
68,634,845 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R3977:Adam28
|
UTSW |
14 |
68,610,994 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3978:Adam28
|
UTSW |
14 |
68,610,994 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3979:Adam28
|
UTSW |
14 |
68,610,994 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4282:Adam28
|
UTSW |
14 |
68,647,706 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4416:Adam28
|
UTSW |
14 |
68,622,082 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4690:Adam28
|
UTSW |
14 |
68,642,048 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4724:Adam28
|
UTSW |
14 |
68,626,877 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4768:Adam28
|
UTSW |
14 |
68,634,815 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4883:Adam28
|
UTSW |
14 |
68,638,103 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5054:Adam28
|
UTSW |
14 |
68,617,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5710:Adam28
|
UTSW |
14 |
68,609,908 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6002:Adam28
|
UTSW |
14 |
68,642,062 (GRCm38) |
missense |
probably benign |
|
|
R6054:Adam28
|
UTSW |
14 |
68,642,152 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6349:Adam28
|
UTSW |
14 |
68,633,172 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6449:Adam28
|
UTSW |
14 |
68,630,667 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6455:Adam28
|
UTSW |
14 |
68,633,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6831:Adam28
|
UTSW |
14 |
68,618,127 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6833:Adam28
|
UTSW |
14 |
68,618,127 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7212:Adam28
|
UTSW |
14 |
68,637,397 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7411:Adam28
|
UTSW |
14 |
68,626,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7422:Adam28
|
UTSW |
14 |
68,626,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7516:Adam28
|
UTSW |
14 |
68,630,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7649:Adam28
|
UTSW |
14 |
68,634,833 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7765:Adam28
|
UTSW |
14 |
68,609,106 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8469:Adam28
|
UTSW |
14 |
68,606,580 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8520:Adam28
|
UTSW |
14 |
68,642,083 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9026:Adam28
|
UTSW |
14 |
68,609,144 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9163:Adam28
|
UTSW |
14 |
68,629,082 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9264:Adam28
|
UTSW |
14 |
68,607,465 (GRCm38) |
missense |
probably benign |
|
|
R9304:Adam28
|
UTSW |
14 |
68,637,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9357:Adam28
|
UTSW |
14 |
68,642,030 (GRCm38) |
missense |
probably benign |
0.36 |
|
R9441:Adam28
|
UTSW |
14 |
68,637,494 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Adam28
|
UTSW |
14 |
68,626,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCACAGTTCCCAGATTGCAG -3'
(R):5'- TTTTAGAGGCAGCCAAGAGG -3'
Sequencing Primer
(F):5'- GTTCCCAGATTGCAGATTAAAACC -3'
(R):5'- CAAGAGGCAGCCAGGACTTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation