Incidental Mutation 'R1455:Adam9'
| ID |
161729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam9
|
| Ensembl Gene |
ENSMUSG00000031555 |
| Gene Name |
ADAM metallopeptidase domain 9 |
| Synonyms |
MDC9, Mltng, Mltng, MDC9 |
| MMRRC Submission |
039510-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25439627-25506943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 25483125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 227
(M227L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084032]
[ENSMUST00000084035]
[ENSMUST00000207132]
[ENSMUST00000208247]
|
| AlphaFold |
Q61072 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084032
AA Change: M227L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: M227L
| 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: M227L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: M227L
| 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: M227L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000211319
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,824 (GRCm39) |
N285D |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,585,471 (GRCm39) |
D21G |
probably damaging |
Het |
| Arhgap32 |
C |
T |
9: 32,171,381 (GRCm39) |
A1387V |
probably benign |
Het |
| Atg4d |
T |
A |
9: 21,182,097 (GRCm39) |
V306E |
probably damaging |
Het |
| Brsk1 |
G |
A |
7: 4,707,250 (GRCm39) |
V268M |
probably damaging |
Het |
| Cfap300 |
T |
G |
9: 8,022,457 (GRCm39) |
N255T |
probably benign |
Het |
| Clec4a4 |
A |
G |
6: 122,989,758 (GRCm39) |
E133G |
possibly damaging |
Het |
| Col24a1 |
T |
A |
3: 145,166,593 (GRCm39) |
L1076H |
probably damaging |
Het |
| Ddah1 |
G |
T |
3: 145,594,864 (GRCm39) |
R208L |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,090,368 (GRCm39) |
N960S |
probably benign |
Het |
| Egln2 |
A |
G |
7: 26,859,796 (GRCm39) |
Y306H |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,052,292 (GRCm39) |
V293A |
possibly damaging |
Het |
| Gja3 |
A |
G |
14: 57,273,842 (GRCm39) |
Y177H |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,845 (GRCm39) |
|
probably null |
Het |
| Gprc5a |
G |
A |
6: 135,056,245 (GRCm39) |
V231I |
probably benign |
Het |
| Kdm4d |
C |
A |
9: 14,375,691 (GRCm39) |
A56S |
probably damaging |
Het |
| Lingo4 |
G |
A |
3: 94,306,699 (GRCm39) |
|
probably benign |
Het |
| Map6 |
A |
G |
7: 98,917,421 (GRCm39) |
T65A |
probably damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,121,089 (GRCm39) |
I653T |
probably benign |
Het |
| Ndufa12 |
A |
G |
10: 94,039,176 (GRCm39) |
T70A |
probably benign |
Het |
| Nfe2l3 |
C |
A |
6: 51,434,744 (GRCm39) |
P435T |
possibly damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,178,174 (GRCm39) |
V412E |
possibly damaging |
Het |
| Or51a39 |
A |
T |
7: 102,363,205 (GRCm39) |
Y138* |
probably null |
Het |
| Or6aa1 |
A |
T |
7: 86,043,803 (GRCm39) |
F301Y |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,020,008 (GRCm39) |
F1344L |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,181,818 (GRCm39) |
V297A |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Pramel7 |
T |
C |
2: 87,320,067 (GRCm39) |
T409A |
probably benign |
Het |
| Proc |
C |
G |
18: 32,256,451 (GRCm39) |
M405I |
probably damaging |
Het |
| Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,117,274 (GRCm39) |
K744N |
probably damaging |
Het |
| Spdye4c |
A |
T |
2: 128,438,478 (GRCm39) |
I279F |
probably damaging |
Het |
| Srcap |
G |
T |
7: 127,129,822 (GRCm39) |
R568L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,309,997 (GRCm39) |
M1215K |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,732,083 (GRCm39) |
A1274T |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,179,406 (GRCm39) |
V1253A |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,736,821 (GRCm39) |
I800V |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,248,013 (GRCm39) |
I1072T |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,315,835 (GRCm39) |
|
probably null |
Het |
| Zfp941 |
A |
G |
7: 140,392,687 (GRCm39) |
V224A |
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 |
|
IGL02095:Adam9
|
APN |
8 |
25,486,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- aggaggCGGGGTTCTTTAAAACAC -3'
(R):5'- gccacaTTGGGATCGGCTCATTTG -3'
Sequencing Primer
(F):5'- gCGGGGTTCTTTAAAACACTAGTC -3'
(R):5'- ATCGGCTCATTTGAAATGCTGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation