Incidental Mutation 'R9264:Adam28'
ID |
702445 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
R9264 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68844914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 791
(Y791C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022642]
[ENSMUST00000111072]
[ENSMUST00000224039]
|
AlphaFold |
Q9JLN6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022642
AA Change: Y791C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022642 Gene: ENSMUSG00000014725 AA Change: Y791C
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
|
SMART Domains |
Protein: ENSMUSP00000106701 Gene: ENSMUSG00000014725
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 |
100% (58/58) |
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 |
Abca15 |
A |
T |
7: 120,001,056 (GRCm39) |
I1531L |
probably benign |
Het |
Ankrd40 |
T |
A |
11: 94,229,187 (GRCm39) |
I262N |
probably damaging |
Het |
Catsperg2 |
A |
T |
7: 29,397,613 (GRCm39) |
N1033K |
possibly damaging |
Het |
Cdh10 |
A |
T |
15: 18,964,081 (GRCm39) |
D81V |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,333,878 (GRCm39) |
V310A |
possibly damaging |
Het |
Cep78 |
T |
C |
19: 15,951,830 (GRCm39) |
Y325C |
probably damaging |
Het |
Clstn3 |
T |
A |
6: 124,436,727 (GRCm39) |
D197V |
probably damaging |
Het |
Col11a1 |
T |
C |
3: 114,005,809 (GRCm39) |
I1647T |
unknown |
Het |
Col5a1 |
G |
A |
2: 27,854,123 (GRCm39) |
R569K |
unknown |
Het |
Cspg4b |
G |
A |
13: 113,456,014 (GRCm39) |
V687M |
|
Het |
Cyp4a10 |
T |
C |
4: 115,381,475 (GRCm39) |
S180P |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,135,173 (GRCm39) |
I1336V |
probably benign |
Het |
Dchs2 |
G |
A |
3: 83,177,784 (GRCm39) |
V946M |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,813,900 (GRCm39) |
R347G |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 117,991,262 (GRCm39) |
D2368V |
probably damaging |
Het |
Ganab |
T |
C |
19: 8,890,228 (GRCm39) |
I719T |
possibly damaging |
Het |
Gm10944 |
C |
A |
10: 10,557,583 (GRCm39) |
A11D |
unknown |
Het |
Gmcl1 |
T |
C |
6: 86,691,195 (GRCm39) |
M267V |
probably benign |
Het |
Inhbe |
T |
A |
10: 127,186,427 (GRCm39) |
D251V |
probably damaging |
Het |
Kcnj1 |
G |
A |
9: 32,307,654 (GRCm39) |
R26Q |
probably benign |
Het |
Lama5 |
A |
G |
2: 179,838,271 (GRCm39) |
|
probably benign |
Het |
Lin9 |
T |
A |
1: 180,494,912 (GRCm39) |
D251E |
probably damaging |
Het |
Magel2 |
T |
A |
7: 62,028,344 (GRCm39) |
I416N |
possibly damaging |
Het |
Mdga2 |
T |
C |
12: 66,560,057 (GRCm39) |
N772S |
probably damaging |
Het |
Ms4a20 |
T |
A |
19: 11,093,830 (GRCm39) |
M1L |
probably benign |
Het |
Msh3 |
G |
T |
13: 92,485,812 (GRCm39) |
Q171K |
probably benign |
Het |
Mslnl |
T |
G |
17: 25,961,506 (GRCm39) |
|
probably benign |
Het |
Mtpn |
A |
G |
6: 35,489,176 (GRCm39) |
L116P |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,213,454 (GRCm39) |
T1351A |
probably benign |
Het |
Nectin3 |
A |
T |
16: 46,274,998 (GRCm39) |
I353N |
probably damaging |
Het |
Nprl3 |
A |
T |
11: 32,183,948 (GRCm39) |
N500K |
probably benign |
Het |
Nup93 |
T |
A |
8: 95,019,348 (GRCm39) |
I181N |
probably benign |
Het |
Optc |
T |
C |
1: 133,832,978 (GRCm39) |
I41V |
probably benign |
Het |
Or1b1 |
G |
A |
2: 36,994,801 (GRCm39) |
T287I |
probably damaging |
Het |
Or4p23 |
T |
C |
2: 88,576,776 (GRCm39) |
H152R |
probably damaging |
Het |
Pcdh7 |
C |
A |
5: 58,286,663 (GRCm39) |
N1246K |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,435,166 (GRCm39) |
D377E |
probably benign |
Het |
Pnpla6 |
C |
T |
8: 3,573,294 (GRCm39) |
P386L |
probably benign |
Het |
Polr3a |
T |
C |
14: 24,520,899 (GRCm39) |
T587A |
probably benign |
Het |
Pramel1 |
T |
G |
4: 143,125,099 (GRCm39) |
L341R |
probably damaging |
Het |
Rhot2 |
A |
T |
17: 26,060,740 (GRCm39) |
N210K |
probably damaging |
Het |
Slc37a1 |
A |
G |
17: 31,519,459 (GRCm39) |
I12V |
probably benign |
Het |
Spmip7 |
T |
A |
11: 11,414,678 (GRCm39) |
D141E |
|
Het |
Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
Ssx2ip |
T |
C |
3: 146,142,955 (GRCm39) |
V511A |
probably benign |
Het |
Stfa1 |
G |
A |
16: 36,100,930 (GRCm39) |
V57I |
unknown |
Het |
Syne1 |
T |
G |
10: 5,212,793 (GRCm39) |
R3265S |
probably damaging |
Het |
Tacc2 |
G |
T |
7: 130,228,533 (GRCm39) |
K1739N |
probably damaging |
Het |
Tas2r143 |
A |
T |
6: 42,377,673 (GRCm39) |
M168L |
probably benign |
Het |
Tm4sf1 |
A |
T |
3: 57,202,031 (GRCm39) |
|
probably null |
Het |
Ttc16 |
A |
G |
2: 32,653,017 (GRCm39) |
I604T |
possibly damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,983,393 (GRCm39) |
W64R |
possibly damaging |
Het |
Usp34 |
A |
T |
11: 23,439,064 (GRCm39) |
H3561L |
|
Het |
Vasp |
C |
T |
7: 18,993,376 (GRCm39) |
V276I |
unknown |
Het |
Vwa3a |
A |
G |
7: 120,374,687 (GRCm39) |
N333S |
probably benign |
Het |
Wipf3 |
A |
G |
6: 54,460,866 (GRCm39) |
N105D |
probably benign |
Het |
Zfp760 |
T |
C |
17: 21,942,663 (GRCm39) |
S613P |
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 |
|
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 |
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'- GCTTTTGTGTTGCTAGGATAAACC -3'
(R):5'- CTGGATGCTCATTCTAGAGGC -3'
Sequencing Primer
(F):5'- GGATAAACCAGAAAATAGGTCTTCAC -3'
(R):5'- TCCACTCATGCGTAGTTC -3'
|
Posted On |
2022-03-25 |