Incidental Mutation 'IGL00336:Adam28'
ID |
4163 |
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 # |
IGL00336
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 68859569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 548
(H548L)
|
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: H548L
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022642 Gene: ENSMUSG00000014725 AA Change: H548L
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: H548L
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106701 Gene: ENSMUSG00000014725 AA Change: H548L
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: H548L
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230006
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
A |
G |
5: 138,645,366 (GRCm39) |
Y417C |
probably damaging |
Het |
Agbl3 |
A |
T |
6: 34,823,771 (GRCm39) |
D812V |
probably damaging |
Het |
Aopep |
A |
T |
13: 63,163,237 (GRCm39) |
D86V |
possibly damaging |
Het |
Aox1 |
T |
A |
1: 58,098,203 (GRCm39) |
L305Q |
probably damaging |
Het |
Arhgef38 |
A |
G |
3: 132,837,812 (GRCm39) |
V706A |
probably benign |
Het |
Arl15 |
A |
G |
13: 114,291,288 (GRCm39) |
I171V |
probably benign |
Het |
Cacna1s |
C |
A |
1: 136,012,011 (GRCm39) |
Y237* |
probably null |
Het |
Ccnt1 |
T |
C |
15: 98,462,990 (GRCm39) |
T61A |
possibly damaging |
Het |
Col25a1 |
T |
A |
3: 129,975,433 (GRCm39) |
|
probably benign |
Het |
Col4a1 |
T |
A |
8: 11,290,077 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
T |
C |
3: 35,970,455 (GRCm39) |
E130G |
possibly damaging |
Het |
Dnah7b |
G |
A |
1: 46,181,309 (GRCm39) |
M1065I |
probably benign |
Het |
Ephb2 |
T |
G |
4: 136,384,795 (GRCm39) |
K872T |
probably damaging |
Het |
Fga |
G |
A |
3: 82,938,981 (GRCm39) |
G452D |
probably damaging |
Het |
Flrt1 |
T |
A |
19: 7,074,277 (GRCm39) |
N90I |
probably damaging |
Het |
Fut10 |
T |
A |
8: 31,685,319 (GRCm39) |
|
probably null |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gpr137b |
T |
C |
13: 13,549,000 (GRCm39) |
|
probably benign |
Het |
Gprc5d |
G |
A |
6: 135,093,488 (GRCm39) |
Q140* |
probably null |
Het |
Ifi27l2b |
T |
C |
12: 103,417,476 (GRCm39) |
K237R |
unknown |
Het |
Ipo8 |
A |
T |
6: 148,684,284 (GRCm39) |
M836K |
possibly damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Lama1 |
A |
T |
17: 68,120,943 (GRCm39) |
H2693L |
probably benign |
Het |
Lrrc23 |
A |
G |
6: 124,755,889 (GRCm39) |
W40R |
probably damaging |
Het |
Minar1 |
T |
C |
9: 89,485,196 (GRCm39) |
D67G |
probably damaging |
Het |
Morn2 |
C |
A |
17: 80,602,933 (GRCm39) |
|
probably benign |
Het |
Ms4a6b |
T |
A |
19: 11,506,854 (GRCm39) |
N214K |
possibly damaging |
Het |
Nags |
A |
T |
11: 102,039,892 (GRCm39) |
S527C |
probably damaging |
Het |
Ndst1 |
C |
T |
18: 60,841,028 (GRCm39) |
G218D |
probably damaging |
Het |
Or10j5 |
G |
A |
1: 172,785,045 (GRCm39) |
V228M |
probably benign |
Het |
Or5b94 |
T |
A |
19: 12,651,924 (GRCm39) |
Y118* |
probably null |
Het |
Or8h7 |
C |
T |
2: 86,720,589 (GRCm39) |
C310Y |
probably benign |
Het |
Oxa1l |
G |
T |
14: 54,600,802 (GRCm39) |
G92* |
probably null |
Het |
Parp16 |
A |
T |
9: 65,137,245 (GRCm39) |
E157V |
probably damaging |
Het |
Pcdh17 |
A |
T |
14: 84,684,984 (GRCm39) |
I484F |
probably damaging |
Het |
Pex16 |
A |
G |
2: 92,209,580 (GRCm39) |
R263G |
probably benign |
Het |
Pkd1l3 |
G |
A |
8: 110,356,869 (GRCm39) |
E765K |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,640,350 (GRCm39) |
V532A |
probably damaging |
Het |
Polq |
A |
G |
16: 36,885,609 (GRCm39) |
|
probably benign |
Het |
Pramel5 |
T |
C |
4: 143,998,191 (GRCm39) |
T351A |
probably damaging |
Het |
Prokr1 |
A |
T |
6: 87,565,593 (GRCm39) |
I84N |
probably damaging |
Het |
Prss30 |
A |
T |
17: 24,192,695 (GRCm39) |
S162T |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,287,806 (GRCm39) |
K25E |
probably damaging |
Het |
Rapsn |
A |
G |
2: 90,866,205 (GRCm39) |
T22A |
probably damaging |
Het |
Rhoj |
G |
T |
12: 75,355,680 (GRCm39) |
G9V |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,340,169 (GRCm39) |
R3467G |
probably benign |
Het |
Rreb1 |
C |
A |
13: 38,113,622 (GRCm39) |
S327* |
probably null |
Het |
Scn5a |
G |
A |
9: 119,315,290 (GRCm39) |
P1806L |
probably damaging |
Het |
Sema6a |
C |
A |
18: 47,423,042 (GRCm39) |
|
probably null |
Het |
Stag3 |
G |
A |
5: 138,295,921 (GRCm39) |
E416K |
probably benign |
Het |
Stpg1 |
T |
A |
4: 135,256,856 (GRCm39) |
S216T |
possibly damaging |
Het |
Tfeb |
C |
A |
17: 48,102,589 (GRCm39) |
N426K |
probably benign |
Het |
Trp53bp1 |
G |
T |
2: 121,087,060 (GRCm39) |
Q199K |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,155,877 (GRCm39) |
D2234G |
probably damaging |
Het |
Ush1c |
T |
G |
7: 45,846,194 (GRCm39) |
Q866P |
probably benign |
Het |
Vdr |
T |
A |
15: 97,782,735 (GRCm39) |
D29V |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,853,224 (GRCm39) |
V2439A |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,342,942 (GRCm39) |
S1728P |
possibly damaging |
Het |
Zfp9 |
A |
G |
6: 118,441,436 (GRCm39) |
S409P |
probably damaging |
Het |
|
Other mutations in Adam28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2012-04-20 |