Incidental Mutation 'R1340:Adam8'
| ID |
157001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam8
|
| Ensembl Gene |
ENSMUSG00000025473 |
| Gene Name |
a disintegrin and metallopeptidase domain 8 |
| Synonyms |
E430039A18Rik, CD156a, CD156, MS2 |
| MMRRC Submission |
039405-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1340 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139558845-139572475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139571290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 38
(S38F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026546]
[ENSMUST00000026547]
[ENSMUST00000106069]
[ENSMUST00000148670]
[ENSMUST00000173209]
[ENSMUST00000210224]
[ENSMUST00000211638]
|
| AlphaFold |
Q05910 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026546
AA Change: S37F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026546
Gene: ENSMUSG00000025473
AA Change: S37F
| 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: ENSMUST00000026547
|
| SMART Domains |
Protein: ENSMUSP00000026547
Gene: ENSMUSG00000025474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
109 |
121 |
N/A |
INTRINSIC |
|
Pfam:Spc97_Spc98
|
220 |
738 |
8.6e-123 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106069
AA Change: S38F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101684
Gene: ENSMUSG00000025473
AA Change: S38F
| 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 |
noncoding transcript
Transcript: ENSMUST00000128332
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148670
AA Change: S37F
|
| SMART Domains |
Protein: ENSMUSP00000117858
Gene: ENSMUSG00000025473
AA Change: S37F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156647
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173209
AA Change: S37F
|
| SMART Domains |
Protein: ENSMUSP00000133673
Gene: ENSMUSG00000025473
AA Change: S37F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185038
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.9%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,628,581 (GRCm39) |
|
probably benign |
Het |
| Acat3 |
C |
T |
17: 13,148,564 (GRCm39) |
|
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,219,918 (GRCm39) |
|
probably null |
Het |
| Aldh9a1 |
T |
G |
1: 167,184,913 (GRCm39) |
I275S |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
A |
G |
17: 28,113,695 (GRCm39) |
N1289S |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 29,794,024 (GRCm39) |
V1539A |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,348,403 (GRCm39) |
L724P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,218 (GRCm39) |
T370A |
probably benign |
Het |
| Ccdc9 |
G |
A |
7: 16,009,315 (GRCm39) |
|
probably benign |
Het |
| Cep120 |
A |
T |
18: 53,857,463 (GRCm39) |
V334E |
probably damaging |
Het |
| Ces3a |
C |
T |
8: 105,784,545 (GRCm39) |
P462L |
probably damaging |
Het |
| Cgref1 |
A |
G |
5: 31,102,690 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Csrnp3 |
T |
A |
2: 65,832,740 (GRCm39) |
F81Y |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,825,653 (GRCm39) |
T316A |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Epb41l5 |
A |
T |
1: 119,476,861 (GRCm39) |
*740R |
probably null |
Het |
| Gfpt2 |
A |
G |
11: 49,723,688 (GRCm39) |
K559E |
probably damaging |
Het |
| Gm2381 |
A |
G |
7: 42,469,828 (GRCm39) |
Y99H |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,475 (GRCm39) |
V242A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
| Lrriq4 |
A |
C |
3: 30,704,472 (GRCm39) |
T167P |
possibly damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,554,744 (GRCm39) |
T254A |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,325,630 (GRCm39) |
L93F |
possibly damaging |
Het |
| Nefh |
G |
GNNNNNNNNNNNNNNNNNN |
11: 4,891,002 (GRCm39) |
|
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,160,836 (GRCm39) |
S321P |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,427,276 (GRCm39) |
V342A |
probably damaging |
Het |
| Nt5c3 |
A |
G |
6: 56,860,018 (GRCm39) |
M273T |
probably benign |
Het |
| Or12j2 |
A |
G |
7: 139,916,038 (GRCm39) |
T88A |
probably benign |
Het |
| Or1l4b |
T |
G |
2: 37,036,769 (GRCm39) |
L182V |
probably benign |
Het |
| Or6b1 |
G |
A |
6: 42,814,943 (GRCm39) |
V43M |
probably benign |
Het |
| Polr3f |
A |
G |
2: 144,380,548 (GRCm39) |
H297R |
probably benign |
Het |
| Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,418,079 (GRCm39) |
P142L |
possibly damaging |
Het |
| Rps17 |
A |
G |
7: 80,993,481 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
G |
7: 28,815,437 (GRCm39) |
S132P |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,441,958 (GRCm39) |
S1335P |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,029,305 (GRCm39) |
V383A |
possibly damaging |
Het |
| Skint7 |
T |
C |
4: 111,837,416 (GRCm39) |
F65L |
probably damaging |
Het |
| Slc35f1 |
T |
C |
10: 52,965,550 (GRCm39) |
Y322H |
probably damaging |
Het |
| Slc38a4 |
C |
A |
15: 96,908,153 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sox15 |
T |
A |
11: 69,546,373 (GRCm39) |
S59T |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,159,910 (GRCm39) |
|
probably benign |
Het |
| Txlnb |
A |
T |
10: 17,718,488 (GRCm39) |
I440F |
probably damaging |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,281 (GRCm39) |
S37G |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,797,798 (GRCm39) |
T672A |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,659,586 (GRCm39) |
V222A |
probably benign |
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 |
|
IGL02044:Adam8
|
APN |
7 |
139,562,735 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACAAACTGCTGTACCTTTCCTG -3'
(R):5'- CACTGAGCCTTGTGGTGAATACCC -3'
Sequencing Primer
(F):5'- CTGGGCCAATGGTCTCAAAAG -3'
(R):5'- CCTTGTGGTGAATACCCAGATAAAAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation