Incidental Mutation 'IGL02044:Adam8'
| ID |
184874 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam8
|
| Ensembl Gene |
ENSMUSG00000025473 |
| Gene Name |
a disintegrin and metallopeptidase domain 8 |
| Synonyms |
E430039A18Rik, CD156a, CD156, MS2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02044
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139558845-139572475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139562735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 772
(D772G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026546]
[ENSMUST00000097970]
[ENSMUST00000106069]
[ENSMUST00000121412]
[ENSMUST00000210254]
[ENSMUST00000209335]
[ENSMUST00000148670]
|
| AlphaFold |
Q05910 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026546
AA Change: D771G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: D771G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
151 |
5.9e-35 |
PFAM |
|
Pfam:Reprolysin_5
|
193 |
371 |
1e-22 |
PFAM |
|
Pfam:Reprolysin_4
|
193 |
384 |
1.7e-16 |
PFAM |
|
Pfam:Reprolysin
|
195 |
394 |
2.7e-70 |
PFAM |
|
Pfam:Reprolysin_2
|
214 |
384 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin_3
|
218 |
339 |
4.9e-21 |
PFAM |
|
DISIN
|
411 |
486 |
5.16e-36 |
SMART |
|
ACR
|
487 |
606 |
2.15e-35 |
SMART |
|
EGF
|
613 |
642 |
3.06e-1 |
SMART |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
812 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097970
|
| SMART Domains |
Protein: ENSMUSP00000095584
Gene: ENSMUSG00000073795
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH_2
|
22 |
118 |
3e-35 |
PFAM |
|
Pfam:CAMSAP_CH
|
23 |
105 |
1.2e-21 |
PFAM |
|
coiled coil region
|
237 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106069
AA Change: D772G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: D772G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
28 |
152 |
4e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
194 |
372 |
9.6e-23 |
PFAM |
|
Pfam:Reprolysin_4
|
194 |
385 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin
|
196 |
395 |
2.2e-73 |
PFAM |
|
Pfam:Reprolysin_2
|
215 |
385 |
2.9e-18 |
PFAM |
|
Pfam:Reprolysin_3
|
219 |
340 |
6.6e-21 |
PFAM |
|
DISIN
|
412 |
487 |
5.16e-36 |
SMART |
|
ACR
|
488 |
607 |
2.15e-35 |
SMART |
|
EGF
|
614 |
643 |
3.06e-1 |
SMART |
|
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
813 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121412
|
| SMART Domains |
Protein: ENSMUSP00000113338
Gene: ENSMUSG00000073795
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1042
|
22 |
153 |
4.5e-35 |
PFAM |
|
Pfam:CAMSAP_CH
|
23 |
105 |
1.3e-20 |
PFAM |
|
low complexity region
|
230 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146974
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148670
|
| SMART Domains |
Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
151 |
1.8e-35 |
PFAM |
|
Pfam:Reprolysin_5
|
193 |
371 |
3.6e-23 |
PFAM |
|
Pfam:Reprolysin_4
|
193 |
384 |
6e-17 |
PFAM |
|
Pfam:Reprolysin
|
195 |
394 |
8.2e-71 |
PFAM |
|
Pfam:Reprolysin_2
|
214 |
384 |
5.8e-17 |
PFAM |
|
Pfam:Reprolysin_3
|
218 |
339 |
1.7e-21 |
PFAM |
|
DISIN
|
411 |
486 |
5.16e-36 |
SMART |
|
ACR
|
487 |
612 |
2.21e-32 |
SMART |
|
EGF
|
619 |
648 |
3.06e-1 |
SMART |
|
transmembrane domain
|
666 |
688 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the Adam family of proteins that contain the disintegrin and metalloprotease domains. The encoded protein is localized to the cell surface, where it is involved in the remodeling of extracellular matrix and cell migration. Mice lacking the encoded protein display persistent inflammation upon treatment with allergens. Alternative splicing of this gene results in multiple variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a2 |
T |
A |
5: 124,783,954 (GRCm39) |
N267K |
probably benign |
Het |
| Cx3cl1 |
T |
A |
8: 95,507,168 (GRCm39) |
V391D |
probably damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,658,241 (GRCm39) |
R1671* |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,768,790 (GRCm39) |
S443T |
possibly damaging |
Het |
| Hrh2 |
A |
T |
13: 54,368,965 (GRCm39) |
T314S |
probably benign |
Het |
| Ifi206 |
C |
T |
1: 173,308,557 (GRCm39) |
V480M |
probably benign |
Het |
| Krt84 |
A |
G |
15: 101,436,931 (GRCm39) |
Y368H |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,485 (GRCm39) |
S2566P |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,887,431 (GRCm39) |
F3087I |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,751,242 (GRCm39) |
L703H |
probably damaging |
Het |
| Or8c9 |
A |
G |
9: 38,241,461 (GRCm39) |
S193G |
probably benign |
Het |
| Or8g50 |
C |
T |
9: 39,648,270 (GRCm39) |
S53L |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,651 (GRCm39) |
D203G |
probably damaging |
Het |
| Pate7 |
T |
C |
9: 35,687,959 (GRCm39) |
K94E |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,967,197 (GRCm39) |
|
probably null |
Het |
| Pdia6 |
C |
A |
12: 17,333,227 (GRCm39) |
T400K |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,303,724 (GRCm39) |
V354D |
possibly damaging |
Het |
| Sec13 |
A |
G |
6: 113,713,381 (GRCm39) |
I39T |
probably damaging |
Het |
| Smyd3 |
C |
T |
1: 178,799,844 (GRCm39) |
S365N |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,597 (GRCm39) |
|
probably benign |
Het |
| Tjp2 |
T |
G |
19: 24,098,204 (GRCm39) |
Y486S |
probably damaging |
Het |
| Tlr13 |
T |
C |
X: 105,200,703 (GRCm39) |
F147L |
probably damaging |
Het |
| Ulk2 |
T |
A |
11: 61,672,465 (GRCm39) |
N958Y |
probably damaging |
Het |
| Unk |
T |
A |
11: 115,940,154 (GRCm39) |
M169K |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,122,031 (GRCm39) |
Y625C |
possibly damaging |
Het |
|
| Other mutations in Adam8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Adam8
|
APN |
7 |
139,567,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02228:Adam8
|
APN |
7 |
139,568,719 (GRCm39) |
splice site |
probably null |
|
|
IGL02257:Adam8
|
APN |
7 |
139,567,561 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03101:Adam8
|
APN |
7 |
139,568,456 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0320:Adam8
|
UTSW |
7 |
139,566,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Adam8
|
UTSW |
7 |
139,566,725 (GRCm39) |
unclassified |
probably benign |
|
|
R1169:Adam8
|
UTSW |
7 |
139,563,842 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1340:Adam8
|
UTSW |
7 |
139,571,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1699:Adam8
|
UTSW |
7 |
139,563,224 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3725:Adam8
|
UTSW |
7 |
139,563,781 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3874:Adam8
|
UTSW |
7 |
139,567,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Adam8
|
UTSW |
7 |
139,563,851 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4754:Adam8
|
UTSW |
7 |
139,564,693 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4907:Adam8
|
UTSW |
7 |
139,569,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5345:Adam8
|
UTSW |
7 |
139,567,552 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5579:Adam8
|
UTSW |
7 |
139,568,897 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5696:Adam8
|
UTSW |
7 |
139,569,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5805:Adam8
|
UTSW |
7 |
139,565,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5948:Adam8
|
UTSW |
7 |
139,567,797 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5991:Adam8
|
UTSW |
7 |
139,570,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Adam8
|
UTSW |
7 |
139,564,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6456:Adam8
|
UTSW |
7 |
139,566,701 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7098:Adam8
|
UTSW |
7 |
139,559,412 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7105:Adam8
|
UTSW |
7 |
139,569,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7334:Adam8
|
UTSW |
7 |
139,568,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Adam8
|
UTSW |
7 |
139,566,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7382:Adam8
|
UTSW |
7 |
139,570,020 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7425:Adam8
|
UTSW |
7 |
139,572,394 (GRCm39) |
unclassified |
probably benign |
|
|
R7507:Adam8
|
UTSW |
7 |
139,567,091 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7637:Adam8
|
UTSW |
7 |
139,565,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7904:Adam8
|
UTSW |
7 |
139,567,591 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8024:Adam8
|
UTSW |
7 |
139,567,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Adam8
|
UTSW |
7 |
139,568,786 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8438:Adam8
|
UTSW |
7 |
139,565,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8439:Adam8
|
UTSW |
7 |
139,567,762 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9077:Adam8
|
UTSW |
7 |
139,567,552 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9312:Adam8
|
UTSW |
7 |
139,565,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Adam8
|
UTSW |
7 |
139,567,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9566:Adam8
|
UTSW |
7 |
139,565,285 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation