Incidental Mutation 'R6022:Adam9'
| ID |
478997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam9
|
| Ensembl Gene |
ENSMUSG00000031555 |
| Gene Name |
ADAM metallopeptidase domain 9 |
| Synonyms |
MDC9, Mltng, Mltng, MDC9 |
| MMRRC Submission |
043256-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6022 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25439627-25506943 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25493321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 96
(T96A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084032]
[ENSMUST00000084035]
[ENSMUST00000207132]
[ENSMUST00000208247]
|
| AlphaFold |
Q61072 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084032
AA Change: T96A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: T96A
| 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: T96A
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: T96A
| 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 |
possibly damaging
Transcript: ENSMUST00000208247
AA Change: T96A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,240,759 (GRCm39) |
F874C |
probably damaging |
Het |
| Arhgef26 |
C |
T |
3: 62,336,360 (GRCm39) |
T633M |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,095,607 (GRCm39) |
|
probably null |
Het |
| AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Caskin1 |
T |
A |
17: 24,715,709 (GRCm39) |
F158I |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,055,085 (GRCm39) |
N204I |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 17,598,035 (GRCm39) |
I41V |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 133,801,584 (GRCm39) |
K915* |
probably null |
Het |
| Dock4 |
T |
C |
12: 40,798,109 (GRCm39) |
V911A |
probably benign |
Het |
| Dok5 |
A |
G |
2: 170,721,142 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dpysl4 |
A |
T |
7: 138,666,000 (GRCm39) |
|
probably benign |
Het |
| Dsc3 |
A |
C |
18: 20,099,395 (GRCm39) |
V707G |
probably damaging |
Het |
| Endog |
A |
G |
2: 30,062,921 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,363,070 (GRCm39) |
T526A |
probably benign |
Het |
| Gcat |
T |
C |
15: 78,926,478 (GRCm39) |
V116A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,390,967 (GRCm39) |
D3975G |
probably damaging |
Het |
| Jmy |
G |
T |
13: 93,590,086 (GRCm39) |
|
probably null |
Het |
| Kif1b |
T |
C |
4: 149,282,989 (GRCm39) |
I1273V |
probably benign |
Het |
| Lrriq1 |
G |
T |
10: 103,051,395 (GRCm39) |
N452K |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,503,429 (GRCm39) |
E296G |
probably damaging |
Het |
| Marco |
G |
A |
1: 120,416,294 (GRCm39) |
L208F |
probably benign |
Het |
| Mme |
T |
A |
3: 63,272,218 (GRCm39) |
W606R |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,984,174 (GRCm39) |
S647P |
probably damaging |
Het |
| Prx |
A |
G |
7: 27,216,998 (GRCm39) |
K500E |
probably damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,793,421 (GRCm39) |
V524E |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,301,667 (GRCm39) |
I155K |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,508,523 (GRCm39) |
E815G |
probably damaging |
Het |
| Rnf150 |
T |
C |
8: 83,769,358 (GRCm39) |
V381A |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,376,836 (GRCm39) |
K5103R |
probably benign |
Het |
| Speer4a2 |
T |
G |
5: 26,289,677 (GRCm39) |
E250A |
probably benign |
Het |
| Tecpr1 |
A |
T |
5: 144,136,009 (GRCm39) |
W961R |
possibly damaging |
Het |
| Tnn |
A |
T |
1: 159,937,928 (GRCm39) |
D932E |
probably benign |
Het |
| Tram2 |
G |
A |
1: 21,149,361 (GRCm39) |
|
probably benign |
Het |
| Trbv26 |
T |
A |
6: 41,204,509 (GRCm39) |
|
probably benign |
Het |
| Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
| Ttk |
T |
C |
9: 83,721,375 (GRCm39) |
Y87H |
probably damaging |
Het |
| Uri1 |
A |
T |
7: 37,660,902 (GRCm39) |
|
probably benign |
Het |
| Vmn1r173 |
A |
G |
7: 23,402,260 (GRCm39) |
D165G |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,476,618 (GRCm39) |
S494P |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,419 (GRCm39) |
N513I |
probably damaging |
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 |
|
R5165:Adam9
|
UTSW |
8 |
25,457,190 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- TCCAGAGGCATCCTGTAAGG -3'
(R):5'- TTTACATCAGTCGGCTGCGG -3'
Sequencing Primer
(F):5'- CCTGTAAGGATATGGAAGGTGTCC -3'
(R):5'- CTTATGAGCTGTGCCCTA -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation