Incidental Mutation 'R6349:Adam28'
| ID |
512465 |
| 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 |
044503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R6349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68870621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 351
(I351V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022642]
[ENSMUST00000111072]
[ENSMUST00000224039]
|
| AlphaFold |
Q9JLN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022642
AA Change: I351V
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: I351V
| 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
AA Change: I351V
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: I351V
| 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
AA Change: I351V
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.6%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012A03Rik |
A |
G |
6: 32,028,595 (GRCm39) |
Y9C |
probably benign |
Het |
| 4930433I11Rik |
A |
C |
7: 40,644,196 (GRCm39) |
M622L |
possibly damaging |
Het |
| Abca8b |
C |
T |
11: 109,825,544 (GRCm39) |
|
probably null |
Het |
| Adgrd1 |
A |
C |
5: 129,219,603 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
A |
10: 69,815,269 (GRCm39) |
I473N |
probably damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,822,231 (GRCm39) |
H179Q |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,863,903 (GRCm39) |
R808G |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,819,850 (GRCm39) |
I280F |
probably damaging |
Het |
| Asb2 |
C |
T |
12: 103,312,118 (GRCm39) |
M1I |
probably null |
Het |
| Astn1 |
C |
T |
1: 158,491,691 (GRCm39) |
Q1023* |
probably null |
Het |
| Cast |
T |
A |
13: 74,869,314 (GRCm39) |
E542D |
probably damaging |
Het |
| Ccdc162 |
C |
T |
10: 41,570,396 (GRCm39) |
E30K |
probably damaging |
Het |
| Ccdc87 |
T |
C |
19: 4,891,347 (GRCm39) |
V613A |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,926,304 (GRCm39) |
N832S |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,915,885 (GRCm39) |
N696I |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,857 (GRCm39) |
E161G |
possibly damaging |
Het |
| Cxcr4 |
C |
A |
1: 128,517,014 (GRCm39) |
V216F |
possibly damaging |
Het |
| Cyp4a10 |
A |
G |
4: 115,382,555 (GRCm39) |
I282V |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,902,863 (GRCm39) |
T154A |
possibly damaging |
Het |
| Dido1 |
A |
T |
2: 180,302,494 (GRCm39) |
D1803E |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,982,267 (GRCm39) |
I240V |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,159,803 (GRCm39) |
C484R |
probably damaging |
Het |
| Fech |
G |
T |
18: 64,603,856 (GRCm39) |
Y164* |
probably null |
Het |
| Fer1l5 |
T |
A |
1: 36,450,355 (GRCm39) |
W1175R |
probably damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,372 (GRCm39) |
Y241H |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,793,974 (GRCm39) |
Y117H |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,823,416 (GRCm39) |
M6383K |
probably benign |
Het |
| Gcc2 |
T |
A |
10: 58,105,296 (GRCm39) |
D141E |
probably benign |
Het |
| Glt1d1 |
A |
C |
5: 127,783,950 (GRCm39) |
R301S |
probably benign |
Het |
| Hars1 |
G |
C |
18: 36,916,107 (GRCm39) |
A16G |
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,278,385 (GRCm39) |
G1696C |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,145,091 (GRCm39) |
L814* |
probably null |
Het |
| Izumo4 |
T |
A |
10: 80,538,551 (GRCm39) |
M1K |
probably null |
Het |
| Kdm5d |
T |
A |
Y: 916,847 (GRCm39) |
M414K |
probably damaging |
Homo |
| Kif21b |
G |
A |
1: 136,086,064 (GRCm39) |
V812I |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,988,661 (GRCm39) |
D270G |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 120,936,486 (GRCm39) |
S1347P |
probably benign |
Het |
| Mras |
T |
A |
9: 99,276,669 (GRCm39) |
D67V |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,509 (GRCm39) |
Y183* |
probably null |
Het |
| Muc16 |
A |
T |
9: 18,568,625 (GRCm39) |
L1298Q |
unknown |
Het |
| Myh2 |
A |
T |
11: 67,083,829 (GRCm39) |
I1536F |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,787 (GRCm39) |
I221T |
possibly damaging |
Het |
| Osmr |
G |
T |
15: 6,850,544 (GRCm39) |
D686E |
probably benign |
Het |
| Pah |
T |
A |
10: 87,414,831 (GRCm39) |
D394E |
probably benign |
Het |
| Pla1a |
T |
A |
16: 38,237,486 (GRCm39) |
S71C |
probably benign |
Het |
| Proc |
T |
A |
18: 32,266,486 (GRCm39) |
I114L |
probably benign |
Het |
| Psd |
T |
G |
19: 46,301,826 (GRCm39) |
|
probably null |
Het |
| Psmb6 |
C |
T |
11: 70,418,364 (GRCm39) |
Q226* |
probably null |
Het |
| Rnpepl1 |
A |
T |
1: 92,847,563 (GRCm39) |
N717Y |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,324,988 (GRCm39) |
S565P |
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,809,495 (GRCm39) |
S300R |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,323,257 (GRCm39) |
D483G |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,892,547 (GRCm39) |
I291T |
probably benign |
Het |
| Smg6 |
T |
A |
11: 74,944,600 (GRCm39) |
D116E |
possibly damaging |
Het |
| Srfbp1 |
G |
T |
18: 52,622,034 (GRCm39) |
S365I |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,835,872 (GRCm39) |
T236A |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,924,870 (GRCm39) |
V251A |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,118,332 (GRCm39) |
Y314C |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,179,048 (GRCm39) |
D112G |
possibly damaging |
Het |
| Tubb2b |
A |
G |
13: 34,311,528 (GRCm39) |
Y422H |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,305,872 (GRCm39) |
S332P |
possibly damaging |
Het |
| Vmn1r29 |
A |
C |
6: 58,284,412 (GRCm39) |
Q44P |
probably damaging |
Het |
| Vrtn |
T |
C |
12: 84,695,792 (GRCm39) |
S181P |
probably damaging |
Het |
| Wdr76 |
T |
A |
2: 121,364,712 (GRCm39) |
Y437N |
possibly damaging |
Het |
| Zc3h18 |
C |
A |
8: 123,135,025 (GRCm39) |
|
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,616,168 (GRCm39) |
D174E |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,244,601 (GRCm39) |
Y121* |
probably null |
Het |
| Zfyve19 |
T |
A |
2: 119,041,078 (GRCm39) |
L57Q |
probably 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 |
|
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'- TCAAGTTATAAACATATGAGCTGGTTG -3'
(R):5'- ATATCACTGTTGGGTCTGTTGA -3'
Sequencing Primer
(F):5'- AGTACCAGGATACACAGC -3'
(R):5'- GAGTCCACTTTGTCTCATGTTGAAAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation