Incidental Mutation 'IGL02828:Adam28'
| ID |
361297 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam28
|
| Ensembl Gene |
ENSMUSG00000014725 |
| Gene Name |
a disintegrin and metallopeptidase domain 28 |
| Synonyms |
MDC-L, D430033C21Rik, Dtgn1, C130072N01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
IGL02828
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 68884319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 93
(S93N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022642]
[ENSMUST00000111072]
[ENSMUST00000224039]
|
| AlphaFold |
Q9JLN6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022642
AA Change: S93N
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: S93N
| 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: S93N
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: S93N
| 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: S93N
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224131
|
| Coding Region Coverage |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,871,720 (GRCm39) |
T86I |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,433,978 (GRCm39) |
Y136H |
probably damaging |
Het |
| Ahdc1 |
A |
T |
4: 132,790,232 (GRCm39) |
K491I |
possibly damaging |
Het |
| Alb |
C |
A |
5: 90,615,247 (GRCm39) |
A253E |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,923,932 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,718 (GRCm39) |
N1909K |
possibly damaging |
Het |
| Atosa |
G |
T |
9: 74,913,714 (GRCm39) |
A123S |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,613,599 (GRCm39) |
V457D |
possibly damaging |
Het |
| Atxn7 |
G |
T |
14: 14,090,056 (GRCm38) |
G334W |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
| Clec2h |
T |
A |
6: 128,652,885 (GRCm39) |
H217Q |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,724,281 (GRCm39) |
E1416G |
probably damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,721,501 (GRCm39) |
|
probably benign |
Het |
| Ddr2 |
C |
T |
1: 169,816,082 (GRCm39) |
A542T |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,909,247 (GRCm39) |
N174S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,875,512 (GRCm39) |
S151P |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,461 (GRCm39) |
I206T |
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,041 (GRCm39) |
I131N |
possibly damaging |
Het |
| Fdxacb1 |
G |
A |
9: 50,682,864 (GRCm39) |
V276I |
possibly damaging |
Het |
| Gpr146 |
A |
T |
5: 139,378,576 (GRCm39) |
Y126F |
probably damaging |
Het |
| Hivep3 |
A |
T |
4: 119,954,929 (GRCm39) |
K1082* |
probably null |
Het |
| Ifnar1 |
T |
A |
16: 91,302,304 (GRCm39) |
|
probably null |
Het |
| Kap |
A |
G |
6: 133,829,057 (GRCm39) |
V25A |
probably benign |
Het |
| Klhl2 |
C |
A |
8: 65,232,791 (GRCm39) |
R162L |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,733,244 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,305,639 (GRCm39) |
N303S |
probably benign |
Het |
| Mtpap |
A |
T |
18: 4,386,207 (GRCm39) |
N276Y |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,120,885 (GRCm39) |
G684S |
possibly damaging |
Het |
| Or10g3b |
T |
C |
14: 52,586,799 (GRCm39) |
R235G |
probably benign |
Het |
| Or14a256 |
A |
T |
7: 86,265,277 (GRCm39) |
V192E |
possibly damaging |
Het |
| Pak2 |
A |
T |
16: 31,840,674 (GRCm39) |
L469H |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,903 (GRCm39) |
L45Q |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,098,575 (GRCm39) |
|
probably benign |
Het |
| Picalm |
A |
G |
7: 89,826,709 (GRCm39) |
T386A |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,756,298 (GRCm39) |
T1645A |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,356,941 (GRCm39) |
V754E |
probably damaging |
Het |
| Pramel25 |
A |
T |
4: 143,521,695 (GRCm39) |
D437V |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 157,041,384 (GRCm39) |
E81V |
probably damaging |
Het |
| Rbp4 |
C |
A |
19: 38,106,717 (GRCm39) |
|
probably null |
Het |
| Rdh12 |
T |
C |
12: 79,265,459 (GRCm39) |
V211A |
probably damaging |
Het |
| Ret |
G |
A |
6: 118,153,168 (GRCm39) |
A500V |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,103,118 (GRCm39) |
F469S |
possibly damaging |
Het |
| Rmc1 |
C |
A |
18: 12,322,278 (GRCm39) |
A577D |
possibly damaging |
Het |
| Rsc1a1 |
G |
T |
4: 141,411,479 (GRCm39) |
P478T |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,390,282 (GRCm39) |
Y1579F |
probably benign |
Het |
| Sh3bp5 |
A |
T |
14: 31,156,106 (GRCm39) |
|
probably benign |
Het |
| Slc22a13 |
G |
T |
9: 119,024,773 (GRCm39) |
L235I |
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,111,948 (GRCm39) |
T172S |
possibly damaging |
Het |
| Slitrk1 |
G |
T |
14: 109,149,048 (GRCm39) |
S554R |
possibly damaging |
Het |
| Tg |
G |
A |
15: 66,554,243 (GRCm39) |
G553S |
probably damaging |
Het |
| Tmem26 |
G |
A |
10: 68,611,215 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,754,820 (GRCm39) |
L1222Q |
probably benign |
Het |
| Vdac2 |
T |
C |
14: 21,893,957 (GRCm39) |
V249A |
probably benign |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,943 (GRCm39) |
V115A |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,429,345 (GRCm39) |
V577A |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,232,593 (GRCm39) |
E371G |
probably damaging |
Het |
| Zfp106 |
A |
C |
2: 120,362,178 (GRCm39) |
H980Q |
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 |
|
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 |
|
|
R8469:Adam28
|
UTSW |
14 |
68,844,029 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation