Incidental Mutation 'R2048:Adam10'
| ID |
222246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam10
|
| Ensembl Gene |
ENSMUSG00000054693 |
| Gene Name |
a disintegrin and metallopeptidase domain 10 |
| Synonyms |
kuzbanian, 1700031C13Rik, kuz |
| MMRRC Submission |
040055-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2048 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70586279-70687511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70647357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 19
(D19G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067880]
[ENSMUST00000140205]
[ENSMUST00000144537]
|
| AlphaFold |
O35598 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067880
AA Change: N162S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: N162S
| 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 benign
Transcript: ENSMUST00000140205
AA Change: N162S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
AA Change: N162S
| 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 |
possibly damaging
Transcript: ENSMUST00000144537
AA Change: D19G
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116867
Gene: ENSMUSG00000054693
AA Change: D19G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
76 |
145 |
5.8e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0820 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| Adhfe1 |
A |
G |
1: 9,633,778 (GRCm39) |
K342R |
probably benign |
Het |
| Adk |
A |
G |
14: 21,368,244 (GRCm39) |
N223S |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,289,212 (GRCm39) |
S454G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,984,420 (GRCm39) |
N1901K |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,819,755 (GRCm39) |
T1578A |
probably benign |
Het |
| Ccdc63 |
A |
C |
5: 122,268,350 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
G |
T |
7: 25,176,113 (GRCm39) |
S27Y |
probably benign |
Het |
| Cit |
T |
C |
5: 116,024,872 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,414,825 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
A |
G |
15: 82,676,928 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
A |
T |
5: 137,908,237 (GRCm39) |
V204E |
probably damaging |
Het |
| Cyp51 |
G |
A |
5: 4,136,636 (GRCm39) |
|
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,057,886 (GRCm39) |
D179G |
probably damaging |
Het |
| Epb41l4b |
T |
G |
4: 57,142,866 (GRCm39) |
E96D |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,067,202 (GRCm39) |
E2221G |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,146,169 (GRCm39) |
N597K |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
C |
A |
2: 118,072,197 (GRCm39) |
E195D |
probably damaging |
Het |
| Gm10152 |
T |
C |
7: 144,317,049 (GRCm39) |
F35L |
unknown |
Het |
| Gtpbp6 |
A |
C |
5: 110,254,931 (GRCm39) |
V87G |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,327,002 (GRCm39) |
T176A |
probably damaging |
Het |
| Il12rb2 |
G |
T |
6: 67,337,529 (GRCm39) |
N117K |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,072,680 (GRCm39) |
V734A |
probably benign |
Het |
| Klf7 |
A |
G |
1: 64,117,913 (GRCm39) |
V228A |
possibly damaging |
Het |
| Kng1 |
A |
G |
16: 22,877,354 (GRCm39) |
Y54C |
probably damaging |
Het |
| Lpcat2 |
T |
G |
8: 93,596,471 (GRCm39) |
N169K |
possibly damaging |
Het |
| Magohb |
A |
T |
6: 131,266,385 (GRCm39) |
S40R |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,633,363 (GRCm39) |
D186G |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,469,960 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
G |
16: 48,975,928 (GRCm39) |
D1332G |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,655,332 (GRCm39) |
T1208M |
possibly damaging |
Het |
| Ncor2 |
C |
T |
5: 125,161,996 (GRCm39) |
R426H |
unknown |
Het |
| Nradd |
T |
C |
9: 110,450,697 (GRCm39) |
E160G |
probably benign |
Het |
| Or10u4 |
G |
A |
10: 129,801,861 (GRCm39) |
S230L |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,093,312 (GRCm39) |
M212K |
probably benign |
Het |
| Otog |
A |
T |
7: 45,937,063 (GRCm39) |
T1591S |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,076,140 (GRCm39) |
S389P |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,434,732 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,905,773 (GRCm39) |
I105L |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,153 (GRCm39) |
R217G |
possibly damaging |
Het |
| Poteg |
A |
T |
8: 27,946,774 (GRCm39) |
I159L |
probably benign |
Het |
| Ppargc1a |
A |
G |
5: 51,705,858 (GRCm39) |
F75S |
probably damaging |
Het |
| Ptk2b |
T |
G |
14: 66,409,954 (GRCm39) |
D466A |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,655,785 (GRCm39) |
V394A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Shisa3 |
G |
A |
5: 67,768,651 (GRCm39) |
E184K |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,636,557 (GRCm39) |
H283R |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,311,860 (GRCm39) |
S603G |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tbcd |
G |
T |
11: 121,431,762 (GRCm39) |
C470F |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,333 (GRCm39) |
R674G |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,818,372 (GRCm39) |
C599S |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,252 (GRCm39) |
R302G |
possibly 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 |
|
|
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 |
|
R8447:Adam10
|
UTSW |
9 |
70,655,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- AGCATAGTGTCTTTCTCGTGAATG -3'
(R):5'- CACAACTCCTAGAACATATGTGTG -3'
Sequencing Primer
(F):5'- ATTGGATGGATCCCCTGGAAC -3'
(R):5'- TGTGTGAAATGAAGAAACACTTGCCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation