Incidental Mutation 'R8447:Adam10'
ID |
654554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam10
|
Ensembl Gene |
ENSMUSG00000054693 |
Gene Name |
a disintegrin and metallopeptidase domain 10 |
Synonyms |
kuzbanian, 1700031C13Rik, kuz |
MMRRC Submission |
067902-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8447 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
70586279-70687511 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 70655400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 289
(N289K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067880]
[ENSMUST00000140205]
[ENSMUST00000144537]
|
AlphaFold |
O35598 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067880
AA Change: N289K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000063839 Gene: ENSMUSG00000054693 AA Change: N289K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
27 |
156 |
7.5e-15 |
PFAM |
Pfam:Reprolysin_5
|
219 |
434 |
1e-33 |
PFAM |
Pfam:Reprolysin_4
|
219 |
453 |
2.1e-29 |
PFAM |
Pfam:Reprolysin
|
221 |
457 |
6.1e-8 |
PFAM |
Pfam:Reprolysin_2
|
240 |
447 |
6.5e-39 |
PFAM |
Pfam:Reprolysin_3
|
244 |
395 |
4.6e-27 |
PFAM |
DISIN
|
467 |
551 |
5.99e-23 |
SMART |
transmembrane domain
|
675 |
697 |
N/A |
INTRINSIC |
low complexity region
|
709 |
739 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140205
AA Change: N289K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117162 Gene: ENSMUSG00000054693 AA Change: N289K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
26 |
156 |
5.8e-18 |
PFAM |
Pfam:Reprolysin_5
|
219 |
434 |
2.6e-34 |
PFAM |
Pfam:Reprolysin_4
|
219 |
453 |
4e-30 |
PFAM |
Pfam:Reprolysin
|
221 |
457 |
4.4e-10 |
PFAM |
Pfam:Reprolysin_2
|
240 |
447 |
5.1e-36 |
PFAM |
Pfam:Reprolysin_3
|
244 |
395 |
1.7e-24 |
PFAM |
DISIN
|
467 |
513 |
1.48e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144537
|
SMART Domains |
Protein: ENSMUSP00000116867 Gene: ENSMUSG00000054693
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Reprolysin_5
|
76 |
145 |
5.8e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that is involved in the proteolytic release of membrane-bound proteins in a process called ectodomain shedding. Mice lacking the encoded protein die in utero with multiple defects of the developing central nervous system, somites, and cardiovascular system. [provided by RefSeq, May 2016] PHENOTYPE: Targeted inactivation of this gene leads to embryonic lethality at E9.5. Embryos homozygous for a knock-out allele display decreased size and multiple abnormalities related to Notch signaling, including defects of the developing central nervous system, somites, and cardiovascular system. [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 |
Abcb4 |
A |
C |
5: 8,957,278 (GRCm39) |
T136P |
probably damaging |
Het |
Abcc3 |
A |
T |
11: 94,254,886 (GRCm39) |
L639Q |
possibly damaging |
Het |
Akap12 |
A |
G |
10: 4,306,289 (GRCm39) |
E1138G |
probably benign |
Het |
Akr1e1 |
C |
A |
13: 4,648,793 (GRCm39) |
L167F |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,766 (GRCm39) |
K506E |
possibly damaging |
Het |
Castor1 |
T |
C |
11: 4,170,165 (GRCm39) |
V81A |
probably damaging |
Het |
Cfap46 |
C |
A |
7: 139,260,902 (GRCm39) |
R65S |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Clec16a |
C |
A |
16: 10,559,487 (GRCm39) |
T920K |
probably benign |
Het |
Coro2b |
C |
T |
9: 62,333,842 (GRCm39) |
E351K |
probably damaging |
Het |
Diablo |
T |
C |
5: 123,655,829 (GRCm39) |
E163G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,115,757 (GRCm39) |
L1547P |
probably damaging |
Het |
Dynll2 |
G |
T |
11: 87,874,719 (GRCm39) |
D37E |
probably benign |
Het |
Eml4 |
A |
T |
17: 83,755,656 (GRCm39) |
Q408L |
probably damaging |
Het |
F2rl3 |
T |
C |
8: 73,489,963 (GRCm39) |
*397R |
probably null |
Het |
Fance |
T |
A |
17: 28,545,155 (GRCm39) |
L127Q |
unknown |
Het |
Fat4 |
T |
C |
3: 39,033,824 (GRCm39) |
V2492A |
possibly damaging |
Het |
Ggta1 |
C |
T |
2: 35,292,573 (GRCm39) |
D245N |
probably damaging |
Het |
Gli1 |
T |
C |
10: 127,166,106 (GRCm39) |
N1049S |
probably benign |
Het |
Grin2c |
A |
G |
11: 115,148,215 (GRCm39) |
V354A |
probably benign |
Het |
Kank4 |
T |
A |
4: 98,666,729 (GRCm39) |
I573F |
probably damaging |
Het |
Kdm3a |
A |
G |
6: 71,588,881 (GRCm39) |
V376A |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,481,121 (GRCm39) |
V69A |
probably damaging |
Het |
Lcmt1 |
T |
A |
7: 123,020,825 (GRCm39) |
L250Q |
probably damaging |
Het |
Ldhb |
A |
T |
6: 142,444,356 (GRCm39) |
V99D |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,671,688 (GRCm39) |
V904A |
probably benign |
Het |
Lipe |
G |
T |
7: 25,080,017 (GRCm39) |
N710K |
probably damaging |
Het |
Med1 |
C |
A |
11: 98,060,240 (GRCm39) |
D230Y |
probably damaging |
Het |
Mpv17l |
T |
A |
16: 13,758,864 (GRCm39) |
I96K |
probably benign |
Het |
Obox1 |
A |
T |
7: 15,289,541 (GRCm39) |
Q110L |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,008 (GRCm39) |
V84A |
probably benign |
Het |
Or4f4b |
T |
A |
2: 111,314,101 (GRCm39) |
Y137N |
probably damaging |
Het |
Or4k37 |
T |
A |
2: 111,159,307 (GRCm39) |
I181N |
possibly damaging |
Het |
Or5t16 |
T |
A |
2: 86,818,885 (GRCm39) |
I212F |
probably benign |
Het |
Or6c76 |
T |
G |
10: 129,612,371 (GRCm39) |
M211R |
possibly damaging |
Het |
Or9s14 |
C |
A |
1: 92,535,494 (GRCm39) |
|
probably benign |
Het |
Pah |
T |
C |
10: 87,417,827 (GRCm39) |
|
probably null |
Het |
Pate1 |
A |
T |
9: 35,597,631 (GRCm39) |
N40K |
probably benign |
Het |
Pclo |
C |
A |
5: 14,731,423 (GRCm39) |
D182E |
|
Het |
Prl7a2 |
A |
T |
13: 27,849,941 (GRCm39) |
S44T |
possibly damaging |
Het |
Pwp2 |
T |
A |
10: 78,007,873 (GRCm39) |
D894V |
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,907,771 (GRCm39) |
L1014Q |
probably damaging |
Het |
Rpe |
G |
A |
1: 66,740,188 (GRCm39) |
|
probably null |
Het |
Sh2d3c |
A |
G |
2: 32,642,671 (GRCm39) |
T706A |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 24,006,309 (GRCm39) |
F445S |
possibly damaging |
Het |
Spata20 |
C |
A |
11: 94,373,080 (GRCm39) |
L515F |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,737,437 (GRCm39) |
S1338F |
possibly damaging |
Het |
Tm9sf2 |
C |
A |
14: 122,377,180 (GRCm39) |
P236Q |
probably damaging |
Het |
Tmem135 |
T |
C |
7: 88,803,240 (GRCm39) |
Y311C |
probably damaging |
Het |
Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,688,023 (GRCm39) |
C1190F |
possibly damaging |
Het |
Tmem94 |
G |
A |
11: 115,688,696 (GRCm39) |
R1301H |
probably benign |
Het |
Zp3 |
G |
A |
5: 136,013,244 (GRCm39) |
G192E |
probably damaging |
Het |
|
Other mutations in Adam10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00570:Adam10
|
APN |
9 |
70,626,028 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL00582:Adam10
|
APN |
9 |
70,674,177 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02021:Adam10
|
APN |
9 |
70,651,191 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02149:Adam10
|
APN |
9 |
70,610,713 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03310:Adam10
|
APN |
9 |
70,685,371 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4382001:Adam10
|
UTSW |
9 |
70,673,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Adam10
|
UTSW |
9 |
70,655,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R0469:Adam10
|
UTSW |
9 |
70,655,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R0510:Adam10
|
UTSW |
9 |
70,655,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Adam10
|
UTSW |
9 |
70,661,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R0671:Adam10
|
UTSW |
9 |
70,673,223 (GRCm39) |
splice site |
probably benign |
|
R0735:Adam10
|
UTSW |
9 |
70,655,533 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0785:Adam10
|
UTSW |
9 |
70,675,170 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0881:Adam10
|
UTSW |
9 |
70,653,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R1019:Adam10
|
UTSW |
9 |
70,668,922 (GRCm39) |
missense |
probably benign |
0.00 |
R1169:Adam10
|
UTSW |
9 |
70,653,574 (GRCm39) |
missense |
probably damaging |
0.97 |
R1779:Adam10
|
UTSW |
9 |
70,683,651 (GRCm39) |
splice site |
probably benign |
|
R2048:Adam10
|
UTSW |
9 |
70,647,357 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2911:Adam10
|
UTSW |
9 |
70,626,005 (GRCm39) |
missense |
probably damaging |
0.99 |
R3890:Adam10
|
UTSW |
9 |
70,676,136 (GRCm39) |
missense |
probably benign |
0.00 |
R4608:Adam10
|
UTSW |
9 |
70,651,173 (GRCm39) |
missense |
probably damaging |
0.99 |
R4609:Adam10
|
UTSW |
9 |
70,647,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Adam10
|
UTSW |
9 |
70,673,236 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5135:Adam10
|
UTSW |
9 |
70,673,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R5496:Adam10
|
UTSW |
9 |
70,630,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:Adam10
|
UTSW |
9 |
70,647,399 (GRCm39) |
missense |
probably benign |
0.16 |
R6730:Adam10
|
UTSW |
9 |
70,647,458 (GRCm39) |
critical splice donor site |
probably null |
|
R6825:Adam10
|
UTSW |
9 |
70,668,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R6987:Adam10
|
UTSW |
9 |
70,629,978 (GRCm39) |
missense |
probably benign |
|
R7616:Adam10
|
UTSW |
9 |
70,629,993 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7829:Adam10
|
UTSW |
9 |
70,674,209 (GRCm39) |
nonsense |
probably null |
|
R7908:Adam10
|
UTSW |
9 |
70,669,046 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8445:Adam10
|
UTSW |
9 |
70,674,203 (GRCm39) |
missense |
probably benign |
0.00 |
R8690:Adam10
|
UTSW |
9 |
70,655,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R8970:Adam10
|
UTSW |
9 |
70,655,458 (GRCm39) |
missense |
probably benign |
0.08 |
X0020:Adam10
|
UTSW |
9 |
70,647,425 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Adam10
|
UTSW |
9 |
70,673,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATCAGTTCAGGGCTGTGC -3'
(R):5'- GCACAGGCATTGTTTTCTCC -3'
Sequencing Primer
(F):5'- GTGCTCAGGGAGAACATCTC -3'
(R):5'- TGCCTTTTCTTCCAAGTATTAAGAC -3'
|
Posted On |
2020-10-20 |