Incidental Mutation 'R5165:Adam9'
| ID |
395653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam9
|
| Ensembl Gene |
ENSMUSG00000031555 |
| Gene Name |
ADAM metallopeptidase domain 9 |
| Synonyms |
MDC9, Mltng, Mltng, MDC9 |
| MMRRC Submission |
042746-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25439627-25506943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25457190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 646
(I646N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084032]
[ENSMUST00000084035]
[ENSMUST00000208247]
|
| AlphaFold |
Q61072 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084032
AA Change: I646N
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: I646N
| 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 |
possibly damaging
Transcript: ENSMUST00000084035
AA Change: I646N
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: I646N
| 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 |
possibly damaging
Transcript: ENSMUST00000208247
AA Change: I646N
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
T |
A |
6: 83,503,814 (GRCm39) |
I77F |
probably benign |
Het |
| Actl6a |
G |
A |
3: 32,774,357 (GRCm39) |
V285I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,993,029 (GRCm39) |
I4771T |
possibly damaging |
Het |
| Alas1 |
T |
C |
9: 106,118,454 (GRCm39) |
T223A |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,151,684 (GRCm39) |
E2246G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,489,105 (GRCm39) |
I795T |
probably benign |
Het |
| Ccn3 |
A |
G |
15: 54,612,585 (GRCm39) |
D198G |
probably damaging |
Het |
| Cdhr4 |
T |
C |
9: 107,874,829 (GRCm39) |
L633P |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,804,114 (GRCm39) |
S990P |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,526,789 (GRCm39) |
I66V |
possibly damaging |
Het |
| Cx3cl1 |
T |
C |
8: 95,506,504 (GRCm39) |
S170P |
probably benign |
Het |
| Cyth1 |
T |
C |
11: 118,059,908 (GRCm39) |
N353S |
possibly damaging |
Het |
| Dapp1 |
T |
C |
3: 137,644,976 (GRCm39) |
|
probably null |
Het |
| Dmwd |
G |
A |
7: 18,811,960 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,080 (GRCm39) |
H516R |
probably damaging |
Het |
| Efemp2 |
T |
C |
19: 5,525,439 (GRCm39) |
C39R |
probably damaging |
Het |
| Fnbp4 |
C |
G |
2: 90,608,001 (GRCm39) |
Q908E |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,840,212 (GRCm39) |
V26A |
probably damaging |
Het |
| Gkap1 |
A |
G |
13: 58,411,010 (GRCm39) |
|
probably null |
Het |
| Gstcd |
A |
C |
3: 132,790,440 (GRCm39) |
V109G |
probably damaging |
Het |
| Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnj9 |
A |
T |
1: 172,150,724 (GRCm39) |
D296E |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,998,395 (GRCm39) |
Y68C |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,886,410 (GRCm39) |
I66T |
possibly damaging |
Het |
| Lrp12 |
A |
G |
15: 39,735,857 (GRCm39) |
S692P |
probably benign |
Het |
| Lrrc10 |
A |
T |
10: 116,881,965 (GRCm39) |
N213I |
probably benign |
Het |
| Nceh1 |
G |
A |
3: 27,295,677 (GRCm39) |
V313I |
probably benign |
Het |
| Nkx6-3 |
T |
A |
8: 23,643,759 (GRCm39) |
H53Q |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,550,092 (GRCm39) |
I53T |
probably benign |
Het |
| Or14j7 |
A |
G |
17: 38,235,252 (GRCm39) |
D265G |
probably benign |
Het |
| Or2y16 |
A |
G |
11: 49,335,203 (GRCm39) |
H175R |
probably damaging |
Het |
| Or4f53 |
T |
A |
2: 111,087,568 (GRCm39) |
V36E |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,564 (GRCm39) |
N193K |
probably benign |
Het |
| Oxct1 |
A |
T |
15: 4,083,251 (GRCm39) |
T157S |
possibly damaging |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,723 (GRCm39) |
E392G |
possibly damaging |
Het |
| Polr1a |
T |
G |
6: 71,944,909 (GRCm39) |
Y1322D |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,496,136 (GRCm39) |
S776T |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
| Sertad4 |
A |
T |
1: 192,529,130 (GRCm39) |
S229T |
possibly damaging |
Het |
| Shank2 |
T |
A |
7: 143,963,373 (GRCm39) |
V327D |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,722,865 (GRCm39) |
V904E |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,907,953 (GRCm39) |
Y197N |
probably damaging |
Het |
| Smo |
T |
A |
6: 29,736,077 (GRCm39) |
L23Q |
unknown |
Het |
| Snx29 |
T |
A |
16: 11,238,639 (GRCm39) |
M23K |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,881,761 (GRCm39) |
S366P |
probably benign |
Het |
| Tomm40 |
A |
G |
7: 19,447,592 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
T |
C |
5: 120,696,010 (GRCm39) |
E81G |
probably damaging |
Het |
| Trappc1 |
A |
G |
11: 69,215,060 (GRCm39) |
Q26R |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,606,900 (GRCm39) |
|
probably null |
Het |
| Usp25 |
T |
A |
16: 76,873,293 (GRCm39) |
D450E |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,848,201 (GRCm39) |
Y132* |
probably null |
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 |
|
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 |
|
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'- GCAATTAAGTGTGGAACAGGTCTG -3'
(R):5'- CCAATGCTCAGAAGTCTTGC -3'
Sequencing Primer
(F):5'- GTCTGGGGGTAAATGAAATATCTACC -3'
(R):5'- GATCTTTTTAATGTCTCCAGCTT -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation