Incidental Mutation 'R7212:Adam28'
| ID |
561171 |
| 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 |
045340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R7212 (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 A
at 68874846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 277
(N277I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022642]
[ENSMUST00000111072]
[ENSMUST00000224039]
|
| AlphaFold |
Q9JLN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022642
AA Change: N277I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: N277I
| 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: N277I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: N277I
| 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: N277I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.3132 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (70/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
C |
T |
6: 83,138,654 (GRCm39) |
A193V |
probably benign |
Het |
| Aatf |
C |
T |
11: 84,340,006 (GRCm39) |
R435Q |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,248,854 (GRCm39) |
H2867R |
probably benign |
Het |
| Abcd2 |
C |
T |
15: 91,043,326 (GRCm39) |
A621T |
possibly damaging |
Het |
| Actl11 |
T |
A |
9: 107,805,856 (GRCm39) |
S60T |
probably damaging |
Het |
| Adamts13 |
T |
A |
2: 26,896,326 (GRCm39) |
C1240S |
probably damaging |
Het |
| Arhgap27 |
C |
T |
11: 103,251,581 (GRCm39) |
R49Q |
probably damaging |
Het |
| Armc10 |
T |
C |
5: 21,865,581 (GRCm39) |
S209P |
probably damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,934,783 (GRCm39) |
F617L |
probably benign |
Het |
| Bap1 |
T |
A |
14: 30,973,580 (GRCm39) |
N2K |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,102,158 (GRCm39) |
N1363K |
|
Het |
| Cass4 |
T |
A |
2: 172,269,106 (GRCm39) |
L396* |
probably null |
Het |
| Ccdc40 |
A |
G |
11: 119,155,270 (GRCm39) |
Q1170R |
probably damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,852,572 (GRCm39) |
R348H |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,790,109 (GRCm39) |
S647P |
probably benign |
Het |
| Chordc1 |
T |
A |
9: 18,206,647 (GRCm39) |
|
probably null |
Het |
| Chordc1 |
T |
C |
9: 18,212,308 (GRCm39) |
S41P |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,148,978 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
C |
3: 144,711,727 (GRCm39) |
I756S |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,268,323 (GRCm39) |
V165A |
possibly damaging |
Het |
| Clec4a4 |
T |
A |
6: 122,968,704 (GRCm39) |
|
probably null |
Het |
| Cog7 |
T |
C |
7: 121,576,537 (GRCm39) |
K130E |
probably damaging |
Het |
| Coq7 |
A |
G |
7: 118,109,271 (GRCm39) |
I259T |
unknown |
Het |
| Cp |
T |
C |
3: 20,029,130 (GRCm39) |
S536P |
probably damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,447 (GRCm39) |
|
probably null |
Het |
| Dcst2 |
A |
G |
3: 89,273,607 (GRCm39) |
I162V |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,721,228 (GRCm39) |
E630G |
probably damaging |
Het |
| Dpt |
A |
T |
1: 164,624,484 (GRCm39) |
I62F |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,444 (GRCm39) |
I157F |
probably damaging |
Het |
| Ext1 |
A |
T |
15: 53,208,558 (GRCm39) |
W68R |
probably benign |
Het |
| Fgf4 |
A |
G |
7: 144,416,523 (GRCm39) |
K152E |
probably benign |
Het |
| G530012D18Rik |
A |
T |
1: 85,504,864 (GRCm39) |
T90S |
unknown |
Het |
| Galnt17 |
T |
C |
5: 130,992,949 (GRCm39) |
T322A |
possibly damaging |
Het |
| Gcm1 |
A |
T |
9: 77,966,925 (GRCm39) |
D48V |
possibly damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gm49358 |
G |
T |
10: 86,661,071 (GRCm39) |
R353L |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,365,908 (GRCm39) |
E320G |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,895,758 (GRCm39) |
I1002T |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,111,845 (GRCm39) |
V7E |
possibly damaging |
Het |
| Hipk1 |
G |
A |
3: 103,684,926 (GRCm39) |
Q230* |
probably null |
Het |
| Igsf9b |
C |
T |
9: 27,242,992 (GRCm39) |
P726L |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,464,998 (GRCm39) |
I345V |
probably damaging |
Het |
| Lhx4 |
G |
T |
1: 155,600,699 (GRCm39) |
Q29K |
probably benign |
Het |
| Manba |
A |
G |
3: 135,273,396 (GRCm39) |
T777A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,337,145 (GRCm39) |
D1360G |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
| Mmp14 |
T |
G |
14: 54,673,336 (GRCm39) |
D81E |
probably damaging |
Het |
| Naalad2 |
T |
C |
9: 18,275,337 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Or7a38 |
A |
T |
10: 78,753,339 (GRCm39) |
I222L |
possibly damaging |
Het |
| Or8b35 |
T |
A |
9: 37,904,253 (GRCm39) |
M150K |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,025,312 (GRCm39) |
D488G |
possibly damaging |
Het |
| Prr5 |
T |
G |
15: 84,629,993 (GRCm39) |
L108R |
probably null |
Het |
| Psg23 |
A |
G |
7: 18,341,064 (GRCm39) |
S397P |
probably benign |
Het |
| Rfpl4 |
C |
A |
7: 5,113,659 (GRCm39) |
R174L |
probably damaging |
Het |
| Runx3 |
T |
A |
4: 134,880,090 (GRCm39) |
I3N |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,372,451 (GRCm39) |
N214K |
possibly damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,037,092 (GRCm39) |
I412T |
probably damaging |
Het |
| Sptbn4 |
T |
G |
7: 27,116,210 (GRCm39) |
T530P |
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,060,854 (GRCm39) |
R95* |
probably null |
Het |
| Tex15 |
T |
C |
8: 34,063,023 (GRCm39) |
S818P |
probably damaging |
Het |
| Tmod1 |
A |
T |
4: 46,093,951 (GRCm39) |
K221* |
probably null |
Het |
| Tpm3 |
G |
A |
3: 89,998,361 (GRCm39) |
D272N |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,131 (GRCm39) |
C512S |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,215,268 (GRCm39) |
E417V |
probably benign |
Het |
| Wfdc11 |
T |
C |
2: 164,506,366 (GRCm39) |
N60S |
probably benign |
Het |
| Zfp217 |
A |
T |
2: 169,956,072 (GRCm39) |
S975R |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,309 (GRCm39) |
Q287* |
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 |
|
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 |
|
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'- ACAGAATTCTGATAAATGCTCGCC -3'
(R):5'- GAAGTCCAATAATGCTCAAGGTG -3'
Sequencing Primer
(F):5'- GAATTCTGATAAATGCTCGCCTTATC -3'
(R):5'- TCCAATAATGCTCAAGGTGATAAAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation