Incidental Mutation 'R6833:Adam28'
ID |
534459 |
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 |
044942-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
R6833 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 68855576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 630
(A630T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106701
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022642]
[ENSMUST00000111072]
[ENSMUST00000224039]
|
AlphaFold |
Q9JLN6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022642
AA Change: A630T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000022642 Gene: ENSMUSG00000014725 AA Change: A630T
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: A630T
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000106701 Gene: ENSMUSG00000014725 AA Change: A630T
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: A630T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
96% (54/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,658,733 (GRCm39) |
W215R |
probably damaging |
Het |
Aco1 |
A |
G |
4: 40,164,747 (GRCm39) |
K79R |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,439,480 (GRCm39) |
K1105E |
probably benign |
Het |
Angptl1 |
A |
T |
1: 156,672,263 (GRCm39) |
I30L |
probably benign |
Het |
Astn1 |
A |
T |
1: 158,491,692 (GRCm39) |
Q47L |
probably benign |
Het |
Atf6b |
T |
C |
17: 34,868,131 (GRCm39) |
S135P |
probably damaging |
Het |
Ccdc122 |
G |
T |
14: 77,326,371 (GRCm39) |
|
probably benign |
Het |
Cers3 |
T |
C |
7: 66,429,419 (GRCm39) |
|
probably null |
Het |
Dcaf10 |
T |
C |
4: 45,373,043 (GRCm39) |
C95R |
probably damaging |
Het |
Dcxr |
A |
G |
11: 120,616,917 (GRCm39) |
Y149H |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 50,088,890 (GRCm39) |
I2790F |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,352,580 (GRCm39) |
C2578S |
probably benign |
Het |
Dnttip2 |
T |
C |
3: 122,070,452 (GRCm39) |
S556P |
probably damaging |
Het |
Efr3a |
T |
G |
15: 65,714,535 (GRCm39) |
V301G |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,853,283 (GRCm39) |
H105Q |
probably damaging |
Het |
Enpp3 |
T |
A |
10: 24,685,768 (GRCm39) |
H44L |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,087,517 (GRCm39) |
V281A |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Ferd3l |
G |
A |
12: 33,978,537 (GRCm39) |
V17I |
probably damaging |
Het |
Glb1l |
A |
G |
1: 75,178,397 (GRCm39) |
V347A |
possibly damaging |
Het |
Gm4846 |
A |
T |
1: 166,322,147 (GRCm39) |
I140N |
possibly damaging |
Het |
Gm9195 |
T |
C |
14: 72,671,856 (GRCm39) |
T2586A |
possibly damaging |
Het |
Hsd17b8 |
T |
C |
17: 34,246,191 (GRCm39) |
S161G |
probably damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,881,393 (GRCm39) |
I250V |
probably benign |
Het |
Il11ra1 |
A |
G |
4: 41,765,454 (GRCm39) |
H183R |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
Lgals7 |
G |
A |
7: 28,565,087 (GRCm39) |
R75Q |
probably damaging |
Het |
Lpcat3 |
A |
G |
6: 124,676,974 (GRCm39) |
Y124C |
probably damaging |
Het |
Lrrc8a |
T |
A |
2: 30,145,659 (GRCm39) |
S158T |
possibly damaging |
Het |
Mcm3 |
A |
T |
1: 20,880,320 (GRCm39) |
M504K |
possibly damaging |
Het |
Mro |
G |
T |
18: 73,997,003 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,955,773 (GRCm39) |
|
probably null |
Het |
Myh14 |
T |
A |
7: 44,273,803 (GRCm39) |
K1356* |
probably null |
Het |
Myo5b |
A |
C |
18: 74,903,396 (GRCm39) |
Q1804P |
probably benign |
Het |
Nol10 |
A |
G |
12: 17,402,728 (GRCm39) |
I67V |
probably benign |
Het |
Pam |
T |
A |
1: 97,765,717 (GRCm39) |
I771F |
probably damaging |
Het |
Pcdhgb8 |
G |
T |
18: 37,895,142 (GRCm39) |
A71S |
probably benign |
Het |
Pmfbp1 |
T |
C |
8: 110,265,307 (GRCm39) |
|
probably null |
Het |
Poc1b |
C |
T |
10: 99,028,666 (GRCm39) |
A336V |
probably benign |
Het |
Poglut3 |
A |
G |
9: 53,303,308 (GRCm39) |
I67V |
possibly damaging |
Het |
Prap1 |
C |
A |
7: 139,674,995 (GRCm39) |
A20E |
possibly damaging |
Het |
Prox1 |
G |
A |
1: 189,892,975 (GRCm39) |
A490V |
probably damaging |
Het |
Prss39 |
G |
T |
1: 34,537,697 (GRCm39) |
V54F |
possibly damaging |
Het |
Sema3b |
T |
A |
9: 107,480,515 (GRCm39) |
E144V |
probably benign |
Het |
Sft2d1 |
C |
T |
17: 8,537,707 (GRCm39) |
T32I |
possibly damaging |
Het |
Smpd2 |
C |
T |
10: 41,364,442 (GRCm39) |
A160T |
probably damaging |
Het |
Stard9 |
G |
T |
2: 120,531,740 (GRCm39) |
V2666F |
probably damaging |
Het |
Syt7 |
T |
A |
19: 10,421,508 (GRCm39) |
M400K |
probably damaging |
Het |
Thoc5 |
T |
C |
11: 4,869,804 (GRCm39) |
L402P |
probably damaging |
Het |
Tinf2 |
A |
T |
14: 55,919,037 (GRCm39) |
M1K |
probably null |
Het |
Ttc21a |
A |
G |
9: 119,771,701 (GRCm39) |
I167V |
probably benign |
Het |
Vldlr |
T |
C |
19: 27,217,974 (GRCm39) |
L474P |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,294 (GRCm39) |
V845A |
probably benign |
Het |
Zdhhc7 |
A |
T |
8: 120,811,663 (GRCm39) |
M180K |
probably damaging |
Het |
Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
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 |
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 |
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'- CCCATCCTATATCCTCCTAGAGTGTC -3'
(R):5'- CCTGCTAGTGTTTTCCTAATAAAATGT -3'
Sequencing Primer
(F):5'- TCCTCCTAGAGTGTCAGATAAGC -3'
(R):5'- TTGACCATACTCTAGTGGAAGGCC -3'
|
Posted On |
2018-09-12 |