Incidental Mutation 'R1850:Adam28'
| ID |
208027 |
| 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 |
039874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R1850 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68876644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 202
(Q202L)
|
| 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: Q202L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: Q202L
| 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: Q202L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: Q202L
| 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: Q202L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224131
|
| Meta Mutation Damage Score |
0.0697 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
99% (67/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
A |
10: 10,318,246 (GRCm39) |
V199F |
probably damaging |
Het |
| Aff1 |
G |
T |
5: 103,981,773 (GRCm39) |
R645S |
probably damaging |
Het |
| Aoc1 |
C |
T |
6: 48,882,202 (GRCm39) |
S48F |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,646,855 (GRCm39) |
N339K |
probably damaging |
Het |
| Bpifb3 |
C |
G |
2: 153,771,264 (GRCm39) |
S392C |
possibly damaging |
Het |
| Camk1d |
T |
C |
2: 5,366,826 (GRCm39) |
M130V |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,753,954 (GRCm39) |
N350Y |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,457,091 (GRCm39) |
R453C |
probably damaging |
Het |
| Chd4 |
T |
A |
6: 125,098,619 (GRCm39) |
N1532K |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,454,990 (GRCm39) |
L824P |
probably damaging |
Het |
| Ckap5 |
G |
A |
2: 91,426,058 (GRCm39) |
R1306H |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,873,670 (GRCm39) |
F1146S |
probably damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,001,448 (GRCm39) |
T3854A |
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,220,599 (GRCm39) |
I252F |
probably damaging |
Het |
| Emc1 |
A |
T |
4: 139,086,684 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,172,377 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,814,933 (GRCm39) |
N3555K |
possibly damaging |
Het |
| Gabra1 |
T |
A |
11: 42,070,403 (GRCm39) |
T20S |
probably benign |
Het |
| Igf1 |
A |
C |
10: 87,697,236 (GRCm39) |
T2P |
possibly damaging |
Het |
| Insyn1 |
A |
T |
9: 58,406,392 (GRCm39) |
M101L |
probably benign |
Het |
| Jcad |
C |
A |
18: 4,675,730 (GRCm39) |
T1164N |
possibly damaging |
Het |
| Kalrn |
A |
T |
16: 33,796,293 (GRCm39) |
S2830T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,590,620 (GRCm39) |
A66E |
possibly damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,359,206 (GRCm39) |
M315L |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,807,163 (GRCm39) |
T479A |
probably benign |
Het |
| Macroh2a1 |
T |
C |
13: 56,244,052 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,110 (GRCm39) |
N237D |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtif2 |
A |
G |
11: 29,490,683 (GRCm39) |
I462M |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,090,232 (GRCm39) |
I442V |
probably damaging |
Het |
| Or11g25 |
G |
A |
14: 50,723,055 (GRCm39) |
A47T |
probably benign |
Het |
| Or6b2b |
T |
A |
1: 92,419,124 (GRCm39) |
M118L |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Otogl |
T |
A |
10: 107,713,925 (GRCm39) |
Y498F |
probably damaging |
Het |
| Pbx3 |
A |
T |
2: 34,066,832 (GRCm39) |
F351I |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,710,854 (GRCm39) |
T154A |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,005,025 (GRCm39) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,072,432 (GRCm39) |
I718V |
probably benign |
Het |
| Pparg |
T |
A |
6: 115,427,941 (GRCm39) |
Y143N |
probably damaging |
Het |
| Prl2c5 |
A |
G |
13: 13,360,377 (GRCm39) |
I12V |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,804,411 (GRCm39) |
Q246L |
probably benign |
Het |
| Rnf214 |
A |
T |
9: 45,780,746 (GRCm39) |
|
probably benign |
Het |
| S1pr5 |
A |
T |
9: 21,155,425 (GRCm39) |
S334T |
probably benign |
Het |
| Scg3 |
C |
T |
9: 75,589,449 (GRCm39) |
S35N |
possibly damaging |
Het |
| Septin5 |
A |
T |
16: 18,443,960 (GRCm39) |
L19Q |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,356,025 (GRCm39) |
F16S |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,038,551 (GRCm39) |
S365R |
probably damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,033,347 (GRCm39) |
|
probably null |
Het |
| Slc2a10 |
C |
A |
2: 165,357,133 (GRCm39) |
H264Q |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,309,889 (GRCm39) |
I526V |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,696,766 (GRCm39) |
D1203G |
probably damaging |
Het |
| Spata6l |
T |
C |
19: 28,916,571 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
A |
G |
5: 87,668,700 (GRCm39) |
W181R |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,110,703 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,775,497 (GRCm39) |
A418S |
probably damaging |
Het |
| Tesk1 |
C |
T |
4: 43,443,576 (GRCm39) |
R48C |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,487,510 (GRCm39) |
Q677R |
probably damaging |
Het |
| Tspan8 |
C |
T |
10: 115,669,130 (GRCm39) |
A55V |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,906,268 (GRCm39) |
N421D |
probably damaging |
Het |
| Vmn1r201 |
A |
G |
13: 22,658,801 (GRCm39) |
N5S |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,826 (GRCm39) |
I118L |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,675,105 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,042,865 (GRCm39) |
V1962A |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,760,815 (GRCm39) |
R107* |
probably null |
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 |
|
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'- CACCAAGGGTTGCCTTTCTC -3'
(R):5'- TTGTCTGTACACATGCCGGG -3'
Sequencing Primer
(F):5'- AGGGTTGCCTTTCTCCAAAAAGC -3'
(R):5'- ACACATGCCGGGGTGTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation