Incidental Mutation 'R6054:Adam28'
| ID |
484330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam28
|
| Ensembl Gene |
ENSMUSG00000014725 |
| Gene Name |
a disintegrin and metallopeptidase domain 28 |
| Synonyms |
D430033C21Rik, C130072N01Rik, MDC-L, Dtgn1 |
| MMRRC Submission |
044222-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R6054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
68606027-68655842 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68642152 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 149
(N149I)
|
| 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: N149I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: N149I
| 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: N149I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: N149I
| 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: N149I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224131
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,835,865 (GRCm38) |
S93P |
unknown |
Het |
| Adam4 |
A |
C |
12: 81,420,054 (GRCm38) |
F598V |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,445,375 (GRCm38) |
H33R |
possibly damaging |
Het |
| Apoh |
A |
G |
11: 108,395,975 (GRCm38) |
N75S |
probably damaging |
Het |
| Arrdc5 |
T |
C |
17: 56,294,420 (GRCm38) |
E235G |
possibly damaging |
Het |
| Atm |
T |
C |
9: 53,459,873 (GRCm38) |
D2225G |
probably damaging |
Het |
| Atp6v0a1 |
C |
T |
11: 101,039,889 (GRCm38) |
P514L |
possibly damaging |
Het |
| Brd9 |
T |
A |
13: 73,940,741 (GRCm38) |
M195K |
probably damaging |
Het |
| Cacna1a |
T |
G |
8: 84,556,785 (GRCm38) |
S755A |
probably damaging |
Het |
| Ccdc85c |
T |
A |
12: 108,274,769 (GRCm38) |
H122L |
unknown |
Het |
| Ccs |
A |
T |
19: 4,825,865 (GRCm38) |
D192E |
probably benign |
Het |
| Cd3e |
G |
A |
9: 45,002,161 (GRCm38) |
T92M |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,406,963 (GRCm38) |
F1249L |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 130,061,722 (GRCm38) |
|
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,680,420 (GRCm38) |
Y122H |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,083,748 (GRCm38) |
P570S |
possibly damaging |
Het |
| Dchs2 |
A |
T |
3: 83,346,236 (GRCm38) |
I2318L |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,818,299 (GRCm38) |
Y184N |
probably benign |
Het |
| Dmxl1 |
T |
G |
18: 49,857,386 (GRCm38) |
N297K |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,167,609 (GRCm38) |
G135S |
probably benign |
Het |
| Efhb |
C |
T |
17: 53,398,999 (GRCm38) |
V837I |
possibly damaging |
Het |
| Efs |
C |
T |
14: 54,921,157 (GRCm38) |
D15N |
probably damaging |
Het |
| Fbxl19 |
C |
T |
7: 127,752,509 (GRCm38) |
T314I |
probably damaging |
Het |
| Gm11595 |
A |
T |
11: 99,772,648 (GRCm38) |
C69S |
unknown |
Het |
| Grxcr2 |
A |
G |
18: 41,986,678 (GRCm38) |
V199A |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,123,684 (GRCm38) |
E468G |
probably benign |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,997,940 (GRCm38) |
|
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,770,778 (GRCm38) |
V125E |
probably damaging |
Het |
| Hrg |
A |
T |
16: 22,953,662 (GRCm38) |
T74S |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,586,545 (GRCm38) |
|
probably null |
Het |
| Leng8 |
C |
A |
7: 4,145,523 (GRCm38) |
|
probably null |
Het |
| Maml2 |
TCAGCAGCAGCAGCAGCAGC |
TCAGCAGCAGCAGCAGC |
9: 13,621,399 (GRCm38) |
|
probably benign |
Het |
| Mctp2 |
T |
C |
7: 72,259,103 (GRCm38) |
H154R |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,263,179 (GRCm38) |
E777G |
probably benign |
Het |
| Mgea5 |
A |
G |
19: 45,776,132 (GRCm38) |
S190P |
probably damaging |
Het |
| Miip |
A |
G |
4: 147,865,678 (GRCm38) |
S154P |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,758,425 (GRCm38) |
V985A |
probably benign |
Het |
| Nmrk2 |
G |
A |
10: 81,199,634 (GRCm38) |
R158W |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 33,882,161 (GRCm38) |
S180P |
probably damaging |
Het |
| Olfr1377 |
G |
A |
11: 50,984,804 (GRCm38) |
M34I |
probably benign |
Het |
| Olfr66 |
A |
G |
7: 103,881,826 (GRCm38) |
V139A |
probably damaging |
Het |
| Opa1 |
T |
G |
16: 29,615,134 (GRCm38) |
S596A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 36,940,804 (GRCm38) |
E496G |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,321,080 (GRCm38) |
V171G |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,508,659 (GRCm38) |
T68A |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,582,358 (GRCm38) |
Y1719C |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,513,764 (GRCm38) |
N412S |
probably benign |
Het |
| Rb1cc1 |
G |
T |
1: 6,249,834 (GRCm38) |
R1159L |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,824,150 (GRCm38) |
S1548T |
probably benign |
Het |
| Rora |
A |
G |
9: 69,378,802 (GRCm38) |
I471M |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,651,676 (GRCm38) |
V266L |
probably benign |
Het |
| Sema6a |
C |
T |
18: 47,283,403 (GRCm38) |
D386N |
possibly damaging |
Het |
| Siglecf |
T |
A |
7: 43,355,006 (GRCm38) |
L253Q |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,715,650 (GRCm38) |
H204R |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,408,133 (GRCm38) |
T313A |
possibly damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,162,208 (GRCm38) |
T578A |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 64,268,702 (GRCm38) |
S597G |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,848,260 (GRCm38) |
H174L |
probably damaging |
Het |
| Vrk2 |
A |
T |
11: 26,486,975 (GRCm38) |
S281T |
probably benign |
Het |
| Wdr48 |
A |
G |
9: 119,907,777 (GRCm38) |
D22G |
probably damaging |
Het |
| Zfp408 |
C |
A |
2: 91,649,291 (GRCm38) |
V61L |
probably benign |
Het |
| Zfp652 |
G |
A |
11: 95,749,863 (GRCm38) |
A205T |
probably benign |
Het |
|
| Other mutations in Adam28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Adam28
|
APN |
14 |
68,622,120 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL00654:Adam28
|
APN |
14 |
68,649,428 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01021:Adam28
|
APN |
14 |
68,642,114 (GRCm38) |
missense |
probably benign |
|
|
IGL01099:Adam28
|
APN |
14 |
68,637,329 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01349:Adam28
|
APN |
14 |
68,611,006 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01744:Adam28
|
APN |
14 |
68,607,507 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01805:Adam28
|
APN |
14 |
68,642,091 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02007:Adam28
|
APN |
14 |
68,633,219 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL02828:Adam28
|
APN |
14 |
68,646,870 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL03180:Adam28
|
APN |
14 |
68,637,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03355:Adam28
|
APN |
14 |
68,634,803 (GRCm38) |
splice site |
probably benign |
|
|
IGL02980:Adam28
|
UTSW |
14 |
68,619,806 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4453001:Adam28
|
UTSW |
14 |
68,634,876 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0184:Adam28
|
UTSW |
14 |
68,637,373 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0321:Adam28
|
UTSW |
14 |
68,617,751 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0329:Adam28
|
UTSW |
14 |
68,617,739 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0494:Adam28
|
UTSW |
14 |
68,630,792 (GRCm38) |
splice site |
probably benign |
|
|
R0605:Adam28
|
UTSW |
14 |
68,606,600 (GRCm38) |
unclassified |
probably benign |
|
|
R0732:Adam28
|
UTSW |
14 |
68,637,347 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0959:Adam28
|
UTSW |
14 |
68,607,938 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1319:Adam28
|
UTSW |
14 |
68,609,129 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1745:Adam28
|
UTSW |
14 |
68,633,171 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1836:Adam28
|
UTSW |
14 |
68,649,421 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1838:Adam28
|
UTSW |
14 |
68,639,210 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1839:Adam28
|
UTSW |
14 |
68,639,210 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1850:Adam28
|
UTSW |
14 |
68,639,195 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1912:Adam28
|
UTSW |
14 |
68,644,331 (GRCm38) |
missense |
probably benign |
0.24 |
|
R2830:Adam28
|
UTSW |
14 |
68,626,914 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2889:Adam28
|
UTSW |
14 |
68,634,845 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R3977:Adam28
|
UTSW |
14 |
68,610,994 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3978:Adam28
|
UTSW |
14 |
68,610,994 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3979:Adam28
|
UTSW |
14 |
68,610,994 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4282:Adam28
|
UTSW |
14 |
68,647,706 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4416:Adam28
|
UTSW |
14 |
68,622,082 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4690:Adam28
|
UTSW |
14 |
68,642,048 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4724:Adam28
|
UTSW |
14 |
68,626,877 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4768:Adam28
|
UTSW |
14 |
68,634,815 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4883:Adam28
|
UTSW |
14 |
68,638,103 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5054:Adam28
|
UTSW |
14 |
68,617,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5710:Adam28
|
UTSW |
14 |
68,609,908 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5835:Adam28
|
UTSW |
14 |
68,655,681 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R6002:Adam28
|
UTSW |
14 |
68,642,062 (GRCm38) |
missense |
probably benign |
|
|
R6349:Adam28
|
UTSW |
14 |
68,633,172 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6449:Adam28
|
UTSW |
14 |
68,630,667 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6455:Adam28
|
UTSW |
14 |
68,633,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6831:Adam28
|
UTSW |
14 |
68,618,127 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6833:Adam28
|
UTSW |
14 |
68,618,127 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7212:Adam28
|
UTSW |
14 |
68,637,397 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7411:Adam28
|
UTSW |
14 |
68,626,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7422:Adam28
|
UTSW |
14 |
68,626,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7516:Adam28
|
UTSW |
14 |
68,630,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7649:Adam28
|
UTSW |
14 |
68,634,833 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7765:Adam28
|
UTSW |
14 |
68,609,106 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8469:Adam28
|
UTSW |
14 |
68,606,580 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8520:Adam28
|
UTSW |
14 |
68,642,083 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9026:Adam28
|
UTSW |
14 |
68,609,144 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9163:Adam28
|
UTSW |
14 |
68,629,082 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9264:Adam28
|
UTSW |
14 |
68,607,465 (GRCm38) |
missense |
probably benign |
|
|
R9304:Adam28
|
UTSW |
14 |
68,637,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9357:Adam28
|
UTSW |
14 |
68,642,030 (GRCm38) |
missense |
probably benign |
0.36 |
|
R9441:Adam28
|
UTSW |
14 |
68,637,494 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Adam28
|
UTSW |
14 |
68,626,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCATATACAGTGCGCGC -3'
(R):5'- TTCTAGTGTCAGCAGCAGGTG -3'
Sequencing Primer
(F):5'- AGGTAAAAGATTAGAACCTAGGTCAG -3'
(R):5'- TCAGCAGCAGGTGATCTGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation