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 |
D430033C21Rik, C130072N01Rik, MDC-L, Dtgn1 |
| MMRRC Submission |
039874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R1850 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
68606027-68655842 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68639195 bp (GRCm38)
|
| 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 |
|---|
| 4430402I18Rik |
T |
C |
19: 28,939,171 (GRCm38) |
|
probably null |
Het |
| 6030419C18Rik |
A |
T |
9: 58,499,109 (GRCm38) |
M101L |
probably benign |
Het |
| Adgb |
C |
A |
10: 10,442,502 (GRCm38) |
V199F |
probably damaging |
Het |
| Aff1 |
G |
T |
5: 103,833,907 (GRCm38) |
R645S |
probably damaging |
Het |
| Aoc1 |
C |
T |
6: 48,905,268 (GRCm38) |
S48F |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,819,286 (GRCm38) |
N339K |
probably damaging |
Het |
| Bpifb3 |
C |
G |
2: 153,929,344 (GRCm38) |
S392C |
possibly damaging |
Het |
| Camk1d |
T |
C |
2: 5,362,015 (GRCm38) |
M130V |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,027,326 (GRCm38) |
N350Y |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,599,894 (GRCm38) |
R453C |
probably damaging |
Het |
| Chd4 |
T |
A |
6: 125,121,656 (GRCm38) |
N1532K |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,370,533 (GRCm38) |
L824P |
probably damaging |
Het |
| Ckap5 |
G |
A |
2: 91,595,713 (GRCm38) |
R1306H |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,997,674 (GRCm38) |
F1146S |
probably damaging |
Het |
| Dusp12 |
G |
A |
1: 170,880,629 (GRCm38) |
T173M |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,001,448 (GRCm38) |
T3854A |
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,344,603 (GRCm38) |
I252F |
probably damaging |
Het |
| Emc1 |
A |
T |
4: 139,359,373 (GRCm38) |
|
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,039,305 (GRCm38) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,984,589 (GRCm38) |
N3555K |
possibly damaging |
Het |
| Gabra1 |
T |
A |
11: 42,179,576 (GRCm38) |
T20S |
probably benign |
Het |
| H2afy |
T |
C |
13: 56,096,239 (GRCm38) |
|
probably benign |
Het |
| Igf1 |
A |
C |
10: 87,861,374 (GRCm38) |
T2P |
possibly damaging |
Het |
| Jcad |
C |
A |
18: 4,675,730 (GRCm38) |
T1164N |
possibly damaging |
Het |
| Kalrn |
A |
T |
16: 33,975,923 (GRCm38) |
S2830T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,733,423 (GRCm38) |
A66E |
possibly damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,413,480 (GRCm38) |
M315L |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,986,793 (GRCm38) |
T479A |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,582,057 (GRCm38) |
N237D |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,742,934 (GRCm38) |
V128M |
probably damaging |
Het |
| Mtif2 |
A |
G |
11: 29,540,683 (GRCm38) |
I462M |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,293,344 (GRCm38) |
I442V |
probably damaging |
Het |
| Olfr1082 |
A |
T |
2: 86,594,104 (GRCm38) |
C241* |
probably null |
Het |
| Olfr1415 |
T |
A |
1: 92,491,402 (GRCm38) |
M118L |
possibly damaging |
Het |
| Olfr741 |
G |
A |
14: 50,485,598 (GRCm38) |
A47T |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,878,064 (GRCm38) |
Y498F |
probably damaging |
Het |
| Pbx3 |
A |
T |
2: 34,176,820 (GRCm38) |
F351I |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,756,405 (GRCm38) |
T154A |
probably benign |
Het |
| Pex5l |
A |
T |
3: 32,950,876 (GRCm38) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,188,232 (GRCm38) |
I718V |
probably benign |
Het |
| Pparg |
T |
A |
6: 115,450,980 (GRCm38) |
Y143N |
probably damaging |
Het |
| Prl2c5 |
A |
G |
13: 13,185,792 (GRCm38) |
I12V |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 192,120,111 (GRCm38) |
Q246L |
probably benign |
Het |
| Rnf214 |
A |
T |
9: 45,869,448 (GRCm38) |
|
probably benign |
Het |
| S1pr5 |
A |
T |
9: 21,244,129 (GRCm38) |
S334T |
probably benign |
Het |
| Scg3 |
C |
T |
9: 75,682,167 (GRCm38) |
S35N |
possibly damaging |
Het |
| Sept5 |
A |
T |
16: 18,625,210 (GRCm38) |
L19Q |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,428,295 (GRCm38) |
F16S |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,339,126 (GRCm38) |
S365R |
probably damaging |
Het |
| Slc27a1 |
T |
C |
8: 71,580,703 (GRCm38) |
|
probably null |
Het |
| Slc2a10 |
C |
A |
2: 165,515,213 (GRCm38) |
H264Q |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,161,770 (GRCm38) |
I526V |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,389,771 (GRCm38) |
D1203G |
probably damaging |
Het |
| Sult1b1 |
A |
G |
5: 87,520,841 (GRCm38) |
W181R |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,219,877 (GRCm38) |
|
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,868,215 (GRCm38) |
A418S |
probably damaging |
Het |
| Tesk1 |
C |
T |
4: 43,443,576 (GRCm38) |
R48C |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,437,235 (GRCm38) |
Q677R |
probably damaging |
Het |
| Tspan8 |
C |
T |
10: 115,833,225 (GRCm38) |
A55V |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 11,088,404 (GRCm38) |
N421D |
probably damaging |
Het |
| Vmn1r201 |
A |
G |
13: 22,474,631 (GRCm38) |
N5S |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,525,826 (GRCm38) |
I118L |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,674,959 (GRCm38) |
|
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 101,894,999 (GRCm38) |
V1962A |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,710,747 (GRCm38) |
R107* |
probably null |
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 |
|
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 |
|
|
R6054:Adam28
|
UTSW |
14 |
68,642,152 (GRCm38) |
missense |
probably benign |
0.01 |
|
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'- CACCAAGGGTTGCCTTTCTC -3'
(R):5'- TTGTCTGTACACATGCCGGG -3'
Sequencing Primer
(F):5'- AGGGTTGCCTTTCTCCAAAAAGC -3'
(R):5'- ACACATGCCGGGGTGTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation