Incidental Mutation 'IGL02095:Adam9'
| ID |
279577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam9
|
| Ensembl Gene |
ENSMUSG00000031555 |
| Gene Name |
ADAM metallopeptidase domain 9 |
| Synonyms |
MDC9, Mltng, Mltng, MDC9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
25439627-25506943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25486745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 178
(S178P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084032]
[ENSMUST00000084035]
[ENSMUST00000207132]
[ENSMUST00000208247]
|
| AlphaFold |
Q61072 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084032
AA Change: S178P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: S178P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
43 |
163 |
8.5e-36 |
PFAM |
|
Pfam:Reprolysin_5
|
210 |
386 |
5.5e-20 |
PFAM |
|
Pfam:Reprolysin_4
|
210 |
402 |
1.4e-11 |
PFAM |
|
Pfam:Reprolysin
|
212 |
406 |
1e-67 |
PFAM |
|
Pfam:Reprolysin_2
|
232 |
396 |
1.1e-12 |
PFAM |
|
Pfam:Reprolysin_3
|
236 |
358 |
8.1e-19 |
PFAM |
|
DISIN
|
423 |
499 |
8.7e-44 |
SMART |
|
ACR
|
500 |
637 |
9.7e-75 |
SMART |
|
EGF
|
643 |
674 |
9.9e-2 |
SMART |
|
transmembrane domain
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
787 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084035
AA Change: S178P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: S178P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
34 |
163 |
8.1e-31 |
PFAM |
|
Pfam:Reprolysin_5
|
210 |
386 |
5.8e-22 |
PFAM |
|
Pfam:Reprolysin_4
|
210 |
402 |
1.6e-13 |
PFAM |
|
Pfam:Reprolysin
|
212 |
406 |
1.9e-73 |
PFAM |
|
Pfam:Reprolysin_2
|
232 |
396 |
9.4e-15 |
PFAM |
|
Pfam:Reprolysin_3
|
236 |
358 |
3.4e-19 |
PFAM |
|
DISIN
|
423 |
499 |
1.71e-41 |
SMART |
|
ACR
|
500 |
637 |
2.86e-72 |
SMART |
|
EGF
|
643 |
674 |
2.03e1 |
SMART |
|
transmembrane domain
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
839 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208247
AA Change: S178P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000211319
AA Change: S57P
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous knockout mice exhibit progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,583 (GRCm39) |
Q794L |
probably benign |
Het |
| Acrbp |
C |
A |
6: 125,030,919 (GRCm39) |
Y313* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,727,909 (GRCm39) |
I244V |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 79,985,533 (GRCm39) |
S207G |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,457,141 (GRCm39) |
D880G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,427,309 (GRCm39) |
I573T |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,653,845 (GRCm39) |
D494G |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,360,232 (GRCm39) |
E438G |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,116,980 (GRCm39) |
D37G |
possibly damaging |
Het |
| Cndp2 |
T |
C |
18: 84,699,157 (GRCm39) |
E36G |
possibly damaging |
Het |
| Ddx54 |
G |
A |
5: 120,761,856 (GRCm39) |
G544D |
possibly damaging |
Het |
| Dok2 |
G |
T |
14: 71,015,301 (GRCm39) |
G343W |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,359,001 (GRCm39) |
N87D |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,097,336 (GRCm39) |
Y237C |
probably damaging |
Het |
| Exoc3 |
T |
C |
13: 74,328,655 (GRCm39) |
T569A |
probably damaging |
Het |
| Fam151a |
T |
C |
4: 106,605,072 (GRCm39) |
V478A |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,942,924 (GRCm39) |
H291L |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,330,167 (GRCm39) |
T186A |
unknown |
Het |
| Ggnbp2 |
T |
C |
11: 84,723,954 (GRCm39) |
Y660C |
probably damaging |
Het |
| Ggt5 |
G |
A |
10: 75,444,637 (GRCm39) |
M318I |
probably benign |
Het |
| Gprc5d |
A |
G |
6: 135,093,175 (GRCm39) |
I244T |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,613 (GRCm39) |
S429P |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,920,892 (GRCm39) |
D1341G |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,557,224 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,432,497 (GRCm39) |
D173G |
probably damaging |
Het |
| Lrrc27 |
C |
T |
7: 138,810,169 (GRCm39) |
T380I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,749 (GRCm39) |
N125S |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,628,998 (GRCm39) |
R2217C |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,322,527 (GRCm39) |
R866W |
probably damaging |
Het |
| Or10s1 |
T |
A |
9: 39,985,967 (GRCm39) |
Y125* |
probably null |
Het |
| Or4d10b |
C |
A |
19: 12,036,913 (GRCm39) |
V68F |
probably benign |
Het |
| P2ry6 |
T |
A |
7: 100,588,071 (GRCm39) |
D96V |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,710,605 (GRCm39) |
S237T |
probably benign |
Het |
| Pck2 |
G |
A |
14: 55,779,967 (GRCm39) |
R72Q |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 115,945,423 (GRCm39) |
R1461Q |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,504,678 (GRCm39) |
V1130A |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,832 (GRCm39) |
D198E |
probably benign |
Het |
| Rasa1 |
T |
A |
13: 85,364,274 (GRCm39) |
E1022D |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,718,748 (GRCm39) |
Y507H |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,381,696 (GRCm39) |
I488K |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,774,645 (GRCm39) |
E1170D |
probably damaging |
Het |
| Sdk2 |
T |
G |
11: 113,725,656 (GRCm39) |
T1198P |
probably damaging |
Het |
| Sema3g |
C |
T |
14: 30,949,781 (GRCm39) |
T654I |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,999,408 (GRCm39) |
H1108L |
probably damaging |
Het |
| Trgc2 |
T |
A |
13: 19,491,580 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
T |
C |
4: 41,229,709 (GRCm39) |
N142S |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,087,431 (GRCm39) |
F699L |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 45,006,207 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Adam9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01611:Adam9
|
APN |
8 |
25,457,212 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01786:Adam9
|
APN |
8 |
25,486,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02322:Adam9
|
APN |
8 |
25,445,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02555:Adam9
|
APN |
8 |
25,456,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Adam9
|
APN |
8 |
25,460,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Adam9
|
UTSW |
8 |
25,460,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Adam9
|
UTSW |
8 |
25,454,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0552:Adam9
|
UTSW |
8 |
25,453,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0730:Adam9
|
UTSW |
8 |
25,486,774 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1455:Adam9
|
UTSW |
8 |
25,483,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1974:Adam9
|
UTSW |
8 |
25,482,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Adam9
|
UTSW |
8 |
25,486,669 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2054:Adam9
|
UTSW |
8 |
25,481,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Adam9
|
UTSW |
8 |
25,485,200 (GRCm39) |
splice site |
probably benign |
|
|
R2111:Adam9
|
UTSW |
8 |
25,472,142 (GRCm39) |
splice site |
probably benign |
|
|
R4261:Adam9
|
UTSW |
8 |
25,454,923 (GRCm39) |
nonsense |
probably null |
|
|
R4852:Adam9
|
UTSW |
8 |
25,493,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Adam9
|
UTSW |
8 |
25,457,190 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6022:Adam9
|
UTSW |
8 |
25,493,321 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6101:Adam9
|
UTSW |
8 |
25,460,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Adam9
|
UTSW |
8 |
25,460,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:Adam9
|
UTSW |
8 |
25,468,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Adam9
|
UTSW |
8 |
25,441,002 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7442:Adam9
|
UTSW |
8 |
25,457,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7552:Adam9
|
UTSW |
8 |
25,445,988 (GRCm39) |
missense |
unknown |
|
|
R8076:Adam9
|
UTSW |
8 |
25,452,938 (GRCm39) |
nonsense |
probably null |
|
|
R8265:Adam9
|
UTSW |
8 |
25,457,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Adam9
|
UTSW |
8 |
25,457,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9157:Adam9
|
UTSW |
8 |
25,493,331 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9164:Adam9
|
UTSW |
8 |
25,486,795 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9424:Adam9
|
UTSW |
8 |
25,445,953 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9576:Adam9
|
UTSW |
8 |
25,445,953 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9674:Adam9
|
UTSW |
8 |
25,441,014 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2015-04-16 |
Incidental Mutation