Incidental Mutation 'R0959:Adam28'
ID |
81796 |
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 |
039088-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
R0959 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 68845387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 761
(P761L)
|
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: P761L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022642 Gene: ENSMUSG00000014725 AA Change: P761L
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: P761L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106701 Gene: ENSMUSG00000014725 AA Change: P761L
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: P761L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230006
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 95.8%
- 20x: 89.6%
|
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 |
Actl11 |
T |
C |
9: 107,808,434 (GRCm39) |
V919A |
probably damaging |
Het |
Aoc1l3 |
T |
A |
6: 48,965,566 (GRCm39) |
C525S |
possibly damaging |
Het |
Aplf |
G |
A |
6: 87,623,065 (GRCm39) |
P338L |
probably benign |
Het |
Arl5b |
T |
A |
2: 15,077,942 (GRCm39) |
I89N |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,297,320 (GRCm39) |
V596A |
probably damaging |
Het |
Baz1b |
T |
G |
5: 135,273,076 (GRCm39) |
F1400C |
probably damaging |
Het |
Ccdc149 |
A |
T |
5: 52,542,497 (GRCm39) |
L365Q |
probably damaging |
Het |
Ccdc60 |
A |
G |
5: 116,318,870 (GRCm39) |
S149P |
probably damaging |
Het |
Ces1b |
A |
G |
8: 93,794,775 (GRCm39) |
C275R |
probably damaging |
Het |
Creb3 |
T |
C |
4: 43,563,509 (GRCm39) |
L163P |
probably damaging |
Het |
Dhx37 |
T |
G |
5: 125,500,496 (GRCm39) |
N570T |
probably benign |
Het |
Epc1 |
T |
C |
18: 6,453,657 (GRCm39) |
N223D |
probably damaging |
Het |
Gbp5 |
C |
T |
3: 142,208,885 (GRCm39) |
H143Y |
possibly damaging |
Het |
Gfod1 |
A |
T |
13: 43,456,905 (GRCm39) |
D23E |
probably benign |
Het |
Gm7361 |
A |
T |
5: 26,467,051 (GRCm39) |
E223D |
possibly damaging |
Het |
Izumo1 |
A |
G |
7: 45,274,415 (GRCm39) |
K161E |
probably damaging |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,158,366 (GRCm39) |
N1617S |
possibly damaging |
Het |
Med13l |
A |
T |
5: 118,892,350 (GRCm39) |
E1924D |
possibly damaging |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mtg2 |
T |
G |
2: 179,725,221 (GRCm39) |
S145A |
probably benign |
Het |
Mug2 |
G |
A |
6: 122,062,454 (GRCm39) |
S1442N |
probably benign |
Het |
Myo1b |
A |
T |
1: 51,836,246 (GRCm39) |
I315N |
probably damaging |
Het |
Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
Nsrp1 |
G |
A |
11: 76,937,285 (GRCm39) |
R304* |
probably null |
Het |
Or2a56 |
G |
T |
6: 42,932,686 (GRCm39) |
V85L |
probably benign |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Parp4 |
T |
C |
14: 56,885,576 (GRCm39) |
F1552L |
unknown |
Het |
Pigw |
G |
A |
11: 84,769,033 (GRCm39) |
H99Y |
probably benign |
Het |
Ppp6r2 |
G |
A |
15: 89,158,379 (GRCm39) |
M444I |
possibly damaging |
Het |
Rchy1 |
A |
G |
5: 92,105,476 (GRCm39) |
F82L |
probably damaging |
Het |
Reln |
A |
C |
5: 22,432,626 (GRCm39) |
F125V |
probably damaging |
Het |
Riok1 |
G |
A |
13: 38,241,149 (GRCm39) |
E435K |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,343,407 (GRCm39) |
R3590G |
probably damaging |
Het |
Scart2 |
A |
G |
7: 139,874,704 (GRCm39) |
E394G |
probably damaging |
Het |
Scrib |
G |
C |
15: 75,923,310 (GRCm39) |
P1249A |
probably benign |
Het |
Shc4 |
C |
T |
2: 125,520,607 (GRCm39) |
|
probably null |
Het |
Slc12a2 |
T |
A |
18: 58,037,450 (GRCm39) |
I520N |
probably damaging |
Het |
Slc26a5 |
A |
G |
5: 22,021,959 (GRCm39) |
I484T |
probably benign |
Het |
Slc39a11 |
G |
T |
11: 113,354,899 (GRCm39) |
T110K |
probably benign |
Het |
Snd1 |
T |
A |
6: 28,884,970 (GRCm39) |
S774T |
probably benign |
Het |
Spata31d1c |
C |
T |
13: 65,184,129 (GRCm39) |
P557L |
probably damaging |
Het |
Tada1 |
A |
G |
1: 166,216,198 (GRCm39) |
D133G |
probably benign |
Het |
Tg |
A |
T |
15: 66,579,859 (GRCm39) |
T1555S |
probably damaging |
Het |
Thra |
A |
G |
11: 98,644,455 (GRCm39) |
E15G |
possibly damaging |
Het |
Timd5 |
A |
T |
11: 46,427,247 (GRCm39) |
R187* |
probably null |
Het |
Ttn |
T |
A |
2: 76,625,440 (GRCm39) |
I15128F |
probably damaging |
Het |
Ube2r2 |
A |
G |
4: 41,174,066 (GRCm39) |
Y68C |
probably damaging |
Het |
Uncx |
A |
T |
5: 139,532,442 (GRCm39) |
N169I |
probably damaging |
Het |
Vmn2r100 |
A |
G |
17: 19,743,786 (GRCm39) |
Y483C |
possibly damaging |
Het |
Xkr4 |
T |
C |
1: 3,286,897 (GRCm39) |
D431G |
probably damaging |
Het |
Xylb |
C |
A |
9: 119,209,091 (GRCm39) |
A311E |
possibly damaging |
Het |
Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
Zbtb39 |
C |
A |
10: 127,578,931 (GRCm39) |
H502N |
probably damaging |
Het |
Zfp82 |
A |
G |
7: 29,755,876 (GRCm39) |
L402P |
probably damaging |
Het |
Zpbp2 |
G |
A |
11: 98,448,451 (GRCm39) |
R256Q |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCAGGTACACGCGGCCTA -3'
(R):5'- GGCTCAGAACTAACTGAAAGGGTCAAAT -3'
Sequencing Primer
(F):5'- GCGGCCTATTTGCTGACTAAAAG -3'
(R):5'- CTAACTGAAAGGGTCAAATTCGTG -3'
|
Posted On |
2013-11-08 |