Incidental Mutation 'R0552:Adam9'
ID |
45240 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam9
|
Ensembl Gene |
ENSMUSG00000031555 |
Gene Name |
ADAM metallopeptidase domain 9 |
Synonyms |
MDC9, Mltng, Mltng, MDC9 |
MMRRC Submission |
038744-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0552 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
25439627-25506943 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25453026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 760
(N760K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084032]
[ENSMUST00000084035]
[ENSMUST00000208247]
|
AlphaFold |
Q61072 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084032
AA Change: N760K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000081045 Gene: ENSMUSG00000031555 AA Change: N760K
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: N760K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000081048 Gene: ENSMUSG00000031555 AA Change: N760K
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 |
unknown
Transcript: ENSMUST00000208247
AA Change: N760K
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahcyl |
T |
A |
16: 45,974,955 (GRCm39) |
T141S |
probably benign |
Het |
Akr1b10 |
A |
G |
6: 34,369,920 (GRCm39) |
T216A |
possibly damaging |
Het |
Arsj |
A |
G |
3: 126,232,993 (GRCm39) |
R580G |
probably benign |
Het |
C9 |
A |
T |
15: 6,474,918 (GRCm39) |
I26F |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,533,041 (GRCm39) |
E578G |
probably damaging |
Het |
Clca4b |
C |
T |
3: 144,622,536 (GRCm39) |
V510I |
probably benign |
Het |
Dab2 |
C |
T |
15: 6,464,895 (GRCm39) |
T561I |
possibly damaging |
Het |
Golga5 |
A |
T |
12: 102,450,752 (GRCm39) |
E12D |
possibly damaging |
Het |
Hsd17b12 |
A |
T |
2: 93,874,280 (GRCm39) |
F208I |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,579,008 (GRCm39) |
|
probably benign |
Het |
Kcnh3 |
T |
A |
15: 99,127,337 (GRCm39) |
W378R |
probably damaging |
Het |
Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
Lcn3 |
T |
C |
2: 25,656,421 (GRCm39) |
|
probably null |
Het |
Mppe1 |
A |
G |
18: 67,370,419 (GRCm39) |
|
probably null |
Het |
Muc20 |
G |
A |
16: 32,614,300 (GRCm39) |
A359V |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,263,105 (GRCm39) |
D1765G |
probably damaging |
Het |
Or10j2 |
T |
C |
1: 173,098,372 (GRCm39) |
M210T |
probably benign |
Het |
Or4c10b |
C |
T |
2: 89,711,235 (GRCm39) |
Q22* |
probably null |
Het |
Or5p58 |
A |
G |
7: 107,693,985 (GRCm39) |
M264T |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,757,916 (GRCm39) |
L182Q |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,967,095 (GRCm39) |
N412S |
probably benign |
Het |
Phyh |
A |
G |
2: 4,940,912 (GRCm39) |
T271A |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,352,942 (GRCm39) |
S258P |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pyroxd1 |
A |
G |
6: 142,291,463 (GRCm39) |
E2G |
probably benign |
Het |
Ralgapa1 |
G |
T |
12: 55,723,550 (GRCm39) |
Q2115K |
probably benign |
Het |
Rufy3 |
A |
G |
5: 88,732,129 (GRCm39) |
E44G |
possibly damaging |
Het |
Slit2 |
A |
T |
5: 48,395,721 (GRCm39) |
N712I |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,095,985 (GRCm39) |
M303T |
possibly damaging |
Het |
Ssbp4 |
A |
G |
8: 71,052,509 (GRCm39) |
I154T |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,977,778 (GRCm39) |
K1409E |
probably benign |
Het |
Tfap2b |
T |
C |
1: 19,304,449 (GRCm39) |
Y420H |
probably damaging |
Het |
Tlr5 |
A |
G |
1: 182,803,261 (GRCm39) |
|
probably null |
Het |
Tmprss15 |
C |
T |
16: 78,821,637 (GRCm39) |
|
probably null |
Het |
Tns1 |
A |
T |
1: 73,959,722 (GRCm39) |
I418N |
probably damaging |
Het |
Txlna |
A |
T |
4: 129,522,984 (GRCm39) |
V452D |
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
Zfp764l1 |
A |
T |
7: 126,991,504 (GRCm39) |
I161N |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGGGATGCCAGCTACTGAAAC -3'
(R):5'- CTCTGGTTGTCACTACCAGCATCAC -3'
Sequencing Primer
(F):5'- TTTTGGGGCTGAAGATCAAACC -3'
(R):5'- CAGCATCACCAACGTTTTATTTTG -3'
|
Posted On |
2013-06-11 |