Incidental Mutation 'R0321:Adam28'
ID |
35886 |
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 |
038531-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
R0321 (G1)
|
Quality Score |
168 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68855200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 647
(Q647R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022642]
[ENSMUST00000111072]
[ENSMUST00000224039]
|
AlphaFold |
Q9JLN6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022642
AA Change: Q647R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022642 Gene: ENSMUSG00000014725 AA Change: Q647R
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 damaging
Transcript: ENSMUST00000111072
AA Change: Q647R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106701 Gene: ENSMUSG00000014725 AA Change: Q647R
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 damaging
Transcript: ENSMUST00000224039
AA Change: Q647R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230006
|
Meta Mutation Damage Score |
0.2986 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
Validation Efficiency |
100% (79/79) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,314,620 (GRCm39) |
T353A |
probably benign |
Het |
4933402N03Rik |
T |
A |
7: 130,747,956 (GRCm39) |
Y12F |
probably benign |
Het |
Acbd3 |
T |
G |
1: 180,579,870 (GRCm39) |
F505V |
probably damaging |
Het |
Acod1 |
T |
C |
14: 103,292,565 (GRCm39) |
V363A |
probably benign |
Het |
Akr1c18 |
T |
A |
13: 4,185,243 (GRCm39) |
L296F |
probably damaging |
Het |
Ap1b1 |
G |
A |
11: 4,982,464 (GRCm39) |
A588T |
probably benign |
Het |
Armc8 |
A |
T |
9: 99,415,230 (GRCm39) |
I150K |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,164,251 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
C |
3: 36,960,937 (GRCm39) |
|
probably null |
Het |
Carmil3 |
C |
A |
14: 55,739,698 (GRCm39) |
D928E |
possibly damaging |
Het |
Ccrl2 |
T |
C |
9: 110,885,279 (GRCm39) |
N73S |
probably damaging |
Het |
Cdk9 |
C |
A |
2: 32,602,698 (GRCm39) |
|
probably benign |
Het |
Cel |
G |
T |
2: 28,451,160 (GRCm39) |
Q66K |
probably benign |
Het |
D930028M14Rik |
T |
A |
7: 24,854,991 (GRCm39) |
|
noncoding transcript |
Het |
Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
Dlg1 |
T |
C |
16: 31,676,854 (GRCm39) |
V801A |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,900,416 (GRCm39) |
D3834G |
probably benign |
Het |
Dnajc15 |
C |
T |
14: 78,112,273 (GRCm39) |
A23T |
possibly damaging |
Het |
Ell2 |
T |
A |
13: 75,910,007 (GRCm39) |
L119Q |
probably damaging |
Het |
Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
F10 |
T |
C |
8: 13,103,413 (GRCm39) |
F266L |
possibly damaging |
Het |
Fam110a |
T |
C |
2: 151,812,587 (GRCm39) |
N61S |
probably benign |
Het |
Fam83c |
C |
T |
2: 155,671,620 (GRCm39) |
S605N |
probably benign |
Het |
Fbxw15 |
C |
T |
9: 109,394,453 (GRCm39) |
V121I |
probably benign |
Het |
Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
Gfi1b |
A |
G |
2: 28,503,897 (GRCm39) |
F101S |
probably damaging |
Het |
Gimap5 |
C |
G |
6: 48,727,449 (GRCm39) |
|
probably benign |
Het |
Gpr180 |
T |
C |
14: 118,385,699 (GRCm39) |
|
probably null |
Het |
Gsn |
T |
C |
2: 35,180,408 (GRCm39) |
F188L |
probably benign |
Het |
Hivep3 |
T |
A |
4: 119,952,788 (GRCm39) |
I368N |
possibly damaging |
Het |
Itih3 |
T |
A |
14: 30,634,063 (GRCm39) |
I153F |
probably damaging |
Het |
Kdm8 |
A |
T |
7: 125,060,178 (GRCm39) |
Q360L |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,335,697 (GRCm39) |
K1140E |
probably damaging |
Het |
Mocs1 |
A |
G |
17: 49,740,286 (GRCm39) |
Y71C |
probably damaging |
Het |
Mroh5 |
C |
T |
15: 73,661,892 (GRCm39) |
G433E |
probably damaging |
Het |
Mrpl45 |
T |
A |
11: 97,217,764 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
T |
A |
17: 66,686,426 (GRCm39) |
T827S |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,415,972 (GRCm39) |
S2973P |
probably benign |
Het |
Mynn |
T |
C |
3: 30,661,706 (GRCm39) |
S263P |
probably benign |
Het |
Myo1f |
A |
C |
17: 33,811,986 (GRCm39) |
D595A |
probably benign |
Het |
Necab1 |
A |
T |
4: 14,960,083 (GRCm39) |
I288N |
probably damaging |
Het |
Nutm2 |
T |
G |
13: 50,626,991 (GRCm39) |
M382R |
probably damaging |
Het |
Oprm1 |
T |
C |
10: 6,779,183 (GRCm39) |
S131P |
probably damaging |
Het |
Pcsk9 |
A |
G |
4: 106,301,891 (GRCm39) |
S619P |
probably benign |
Het |
Phkg1 |
A |
T |
5: 129,898,365 (GRCm39) |
M1K |
probably null |
Het |
Pigc |
C |
T |
1: 161,798,668 (GRCm39) |
Q217* |
probably null |
Het |
Pik3r4 |
T |
A |
9: 105,525,906 (GRCm39) |
F259I |
probably damaging |
Het |
Pkdcc |
A |
T |
17: 83,529,541 (GRCm39) |
|
probably benign |
Het |
Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
Prtg |
A |
T |
9: 72,755,307 (GRCm39) |
I259F |
possibly damaging |
Het |
Prune2 |
T |
G |
19: 17,098,291 (GRCm39) |
L1265R |
possibly damaging |
Het |
Prune2 |
C |
T |
19: 17,099,818 (GRCm39) |
A1774V |
probably benign |
Het |
Rcn3 |
A |
G |
7: 44,738,139 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,328,931 (GRCm39) |
Q2067* |
probably null |
Het |
Sec14l1 |
T |
A |
11: 117,041,568 (GRCm39) |
|
probably benign |
Het |
Serpinb3a |
C |
T |
1: 106,975,212 (GRCm39) |
W198* |
probably null |
Het |
Smpdl3b |
A |
T |
4: 132,468,755 (GRCm39) |
V154E |
probably damaging |
Het |
Spag17 |
T |
C |
3: 100,008,719 (GRCm39) |
S1950P |
probably damaging |
Het |
Sprr1a |
T |
C |
3: 92,391,609 (GRCm39) |
T131A |
probably benign |
Het |
Tatdn2 |
T |
G |
6: 113,686,462 (GRCm39) |
L690W |
probably damaging |
Het |
Tbc1d1 |
T |
C |
5: 64,496,937 (GRCm39) |
F864L |
probably damaging |
Het |
Tmem8b |
C |
A |
4: 43,674,444 (GRCm39) |
R243S |
probably damaging |
Het |
Tnfrsf11a |
T |
A |
1: 105,772,583 (GRCm39) |
C623* |
probably null |
Het |
Tprg1l |
T |
C |
4: 154,243,812 (GRCm39) |
N115D |
probably damaging |
Het |
Ube2t |
C |
T |
1: 134,895,538 (GRCm39) |
A4V |
possibly damaging |
Het |
Vps41 |
G |
A |
13: 19,026,465 (GRCm39) |
|
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,149,303 (GRCm39) |
|
probably null |
Het |
Wwc1 |
G |
A |
11: 35,732,637 (GRCm39) |
Q1024* |
probably null |
Het |
Zfand5 |
T |
A |
19: 21,253,879 (GRCm39) |
N27K |
probably damaging |
Het |
Zfp142 |
A |
T |
1: 74,608,873 (GRCm39) |
C1641S |
probably damaging |
Het |
Zfyve16 |
A |
G |
13: 92,629,042 (GRCm39) |
I1465T |
probably damaging |
Het |
Zswim1 |
G |
A |
2: 164,667,947 (GRCm39) |
G400S |
probably benign |
Het |
Zswim3 |
C |
T |
2: 164,662,279 (GRCm39) |
A253V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGGGGTTGGATAGCACATGTTCTGTA -3'
(R):5'- CATCTTGGCAGAGGCAAGCCAACAAA -3'
Sequencing Primer
(F):5'- actgtgaccccaaataagcc -3'
(R):5'- GCCAACAAAGCAGGGGTC -3'
|
Posted On |
2013-05-09 |