Incidental Mutation 'R4066:Adam23'
| ID |
316094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam23
|
| Ensembl Gene |
ENSMUSG00000025964 |
| Gene Name |
a disintegrin and metallopeptidase domain 23 |
| Synonyms |
MDC3 |
| MMRRC Submission |
040973-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4066 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63484880-63635263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63602584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 582
(H582L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087374]
[ENSMUST00000114103]
[ENSMUST00000114107]
|
| AlphaFold |
Q9R1V7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087374
AA Change: H582L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: H582L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
55 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
89 |
247 |
1.8e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
295 |
470 |
4.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
296 |
493 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
320 |
426 |
1.4e-8 |
PFAM |
|
DISIN
|
508 |
583 |
2.81e-28 |
SMART |
|
ACR
|
584 |
725 |
1.11e-60 |
SMART |
|
EGF
|
732 |
766 |
1.87e1 |
SMART |
|
transmembrane domain
|
791 |
813 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097717
|
| SMART Domains |
Protein: ENSMUSP00000095324
Gene: ENSMUSG00000025964
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
2 |
63 |
6.3e-16 |
PFAM |
|
Pfam:Reprolysin_5
|
111 |
286 |
2.7e-7 |
PFAM |
|
Pfam:Reprolysin
|
112 |
309 |
5.7e-57 |
PFAM |
|
Pfam:Reprolysin_3
|
136 |
240 |
8.7e-7 |
PFAM |
|
DISIN
|
324 |
399 |
1.4e-30 |
SMART |
|
ACR
|
400 |
541 |
3.6e-63 |
SMART |
|
EGF
|
548 |
582 |
9e-2 |
SMART |
|
transmembrane domain
|
607 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114101
|
| SMART Domains |
Protein: ENSMUSP00000109736
Gene: ENSMUSG00000025964
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
55 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
87 |
247 |
1.3e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
295 |
470 |
3.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
296 |
493 |
8.1e-59 |
PFAM |
|
Pfam:Reprolysin_3
|
320 |
426 |
1.1e-8 |
PFAM |
|
DISIN
|
508 |
583 |
2.81e-28 |
SMART |
|
ACR
|
584 |
686 |
4.34e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114103
AA Change: H582L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: H582L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
55 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
89 |
247 |
1.8e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
295 |
470 |
4.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
296 |
493 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
320 |
426 |
1.4e-8 |
PFAM |
|
DISIN
|
508 |
583 |
2.81e-28 |
SMART |
|
ACR
|
584 |
725 |
1.11e-60 |
SMART |
|
EGF
|
732 |
766 |
1.87e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114107
AA Change: H582L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: H582L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
55 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
89 |
247 |
1.8e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
295 |
470 |
4.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
296 |
493 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
320 |
426 |
1.4e-8 |
PFAM |
|
DISIN
|
508 |
583 |
2.81e-28 |
SMART |
|
ACR
|
584 |
725 |
1.11e-60 |
SMART |
|
EGF
|
732 |
766 |
1.87e1 |
SMART |
|
transmembrane domain
|
791 |
813 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182642
|
| SMART Domains |
Protein: ENSMUSP00000138362
Gene: ENSMUSG00000025964
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
55 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
89 |
247 |
2.2e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
295 |
470 |
4.6e-9 |
PFAM |
|
Pfam:Reprolysin
|
296 |
493 |
1.4e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
320 |
426 |
1.6e-8 |
PFAM |
|
DISIN
|
508 |
583 |
2.81e-28 |
SMART |
|
ACR
|
584 |
725 |
1.11e-60 |
SMART |
|
EGF
|
732 |
766 |
1.87e1 |
SMART |
|
| Meta Mutation Damage Score |
0.8776 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an inactive metalloprotease and disintegrin domains. Transgenic disruption of this gene in mice results in postnatal neurological defects including tremor and ataxia resulting in death by 2 weeks of age. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for an insertional mutation that inactivates the gene are smaller than normal littermates, show delayed lung development, are lethal by postnatal day 14, and display severe tremor and ataxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13d |
C |
T |
19: 4,320,388 (GRCm39) |
A118T |
probably benign |
Het |
| Arhgap30 |
C |
T |
1: 171,235,891 (GRCm39) |
T755I |
probably benign |
Het |
| Cab39l |
A |
G |
14: 59,784,454 (GRCm39) |
H285R |
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Dspp |
T |
A |
5: 104,325,060 (GRCm39) |
N474K |
unknown |
Het |
| Fanci |
T |
C |
7: 79,062,505 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
| Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
| Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
| Gm8220 |
A |
T |
14: 44,523,095 (GRCm39) |
R12* |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
| Hnrnpr |
C |
A |
4: 136,066,657 (GRCm39) |
|
probably benign |
Het |
| Htt |
C |
T |
5: 35,036,191 (GRCm39) |
T2046I |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,174,967 (GRCm39) |
D259G |
possibly damaging |
Het |
| Klra9 |
T |
C |
6: 130,165,707 (GRCm39) |
T103A |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,755,165 (GRCm39) |
E147G |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,698,259 (GRCm39) |
I373V |
probably benign |
Het |
| Ltb4r1 |
G |
T |
14: 56,004,952 (GRCm39) |
W85L |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Myl10 |
A |
G |
5: 136,724,304 (GRCm39) |
K70E |
probably damaging |
Het |
| Nptx2 |
G |
T |
5: 144,493,122 (GRCm39) |
W403L |
probably damaging |
Het |
| Nyap2 |
A |
G |
1: 81,219,550 (GRCm39) |
Y524C |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,523 (GRCm39) |
L182F |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,911 (GRCm39) |
C189R |
probably damaging |
Het |
| Or8b1 |
T |
A |
9: 38,399,778 (GRCm39) |
M151K |
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,662,812 (GRCm39) |
*64W |
probably null |
Het |
| Ppp2r5b |
T |
C |
19: 6,279,360 (GRCm39) |
Y379C |
probably damaging |
Het |
| Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,590,027 (GRCm39) |
Y673H |
probably damaging |
Het |
| Rnps1-ps |
T |
A |
6: 7,983,009 (GRCm39) |
|
noncoding transcript |
Het |
| Shcbp1 |
A |
G |
8: 4,798,716 (GRCm39) |
I401T |
probably damaging |
Het |
| Shd |
A |
T |
17: 56,278,581 (GRCm39) |
D48V |
probably damaging |
Het |
| Slc14a1 |
A |
G |
18: 78,154,592 (GRCm39) |
W209R |
probably damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,640,692 (GRCm39) |
K6E |
probably benign |
Het |
| Slco6d1 |
A |
G |
1: 98,391,571 (GRCm39) |
|
probably benign |
Het |
| Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,464,283 (GRCm39) |
S156P |
possibly damaging |
Het |
| Stmn2 |
T |
C |
3: 8,574,668 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
C |
A |
17: 72,023,233 (GRCm39) |
|
probably benign |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
| Xpo4 |
G |
T |
14: 57,825,511 (GRCm39) |
H939N |
probably benign |
Het |
|
| Other mutations in Adam23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Adam23
|
APN |
1 |
63,610,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00957:Adam23
|
APN |
1 |
63,573,470 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01338:Adam23
|
APN |
1 |
63,591,014 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01835:Adam23
|
APN |
1 |
63,582,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01928:Adam23
|
APN |
1 |
63,596,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02563:Adam23
|
APN |
1 |
63,607,136 (GRCm39) |
splice site |
probably benign |
|
|
IGL02981:Adam23
|
APN |
1 |
63,610,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03037:Adam23
|
APN |
1 |
63,610,176 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03176:Adam23
|
APN |
1 |
63,602,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Adam23
|
UTSW |
1 |
63,624,586 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
BB017:Adam23
|
UTSW |
1 |
63,624,586 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02991:Adam23
|
UTSW |
1 |
63,586,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0057:Adam23
|
UTSW |
1 |
63,610,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Adam23
|
UTSW |
1 |
63,610,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Adam23
|
UTSW |
1 |
63,573,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0477:Adam23
|
UTSW |
1 |
63,596,559 (GRCm39) |
splice site |
probably benign |
|
|
R0538:Adam23
|
UTSW |
1 |
63,607,003 (GRCm39) |
splice site |
probably benign |
|
|
R0617:Adam23
|
UTSW |
1 |
63,582,306 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1506:Adam23
|
UTSW |
1 |
63,586,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1599:Adam23
|
UTSW |
1 |
63,610,092 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1755:Adam23
|
UTSW |
1 |
63,582,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:Adam23
|
UTSW |
1 |
63,584,731 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1858:Adam23
|
UTSW |
1 |
63,596,615 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1896:Adam23
|
UTSW |
1 |
63,584,731 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1943:Adam23
|
UTSW |
1 |
63,516,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2147:Adam23
|
UTSW |
1 |
63,573,521 (GRCm39) |
splice site |
probably null |
|
|
R2211:Adam23
|
UTSW |
1 |
63,612,288 (GRCm39) |
intron |
probably benign |
|
|
R2233:Adam23
|
UTSW |
1 |
63,584,671 (GRCm39) |
missense |
probably benign |
|
|
R2249:Adam23
|
UTSW |
1 |
63,574,335 (GRCm39) |
nonsense |
probably null |
|
|
R2363:Adam23
|
UTSW |
1 |
63,596,650 (GRCm39) |
splice site |
probably null |
|
|
R3800:Adam23
|
UTSW |
1 |
63,590,933 (GRCm39) |
nonsense |
probably null |
|
|
R3974:Adam23
|
UTSW |
1 |
63,586,888 (GRCm39) |
nonsense |
probably null |
|
|
R3975:Adam23
|
UTSW |
1 |
63,586,888 (GRCm39) |
nonsense |
probably null |
|
|
R4382:Adam23
|
UTSW |
1 |
63,605,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4383:Adam23
|
UTSW |
1 |
63,605,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Adam23
|
UTSW |
1 |
63,605,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Adam23
|
UTSW |
1 |
63,605,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Adam23
|
UTSW |
1 |
63,590,970 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5435:Adam23
|
UTSW |
1 |
63,585,612 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6465:Adam23
|
UTSW |
1 |
63,605,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Adam23
|
UTSW |
1 |
63,596,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Adam23
|
UTSW |
1 |
63,602,495 (GRCm39) |
splice site |
probably null |
|
|
R7139:Adam23
|
UTSW |
1 |
63,584,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Adam23
|
UTSW |
1 |
63,584,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Adam23
|
UTSW |
1 |
63,624,586 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8261:Adam23
|
UTSW |
1 |
63,567,957 (GRCm39) |
missense |
noncoding transcript |
|
|
R8425:Adam23
|
UTSW |
1 |
63,624,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8818:Adam23
|
UTSW |
1 |
63,584,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Adam23
|
UTSW |
1 |
63,554,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Adam23
|
UTSW |
1 |
63,624,524 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8989:Adam23
|
UTSW |
1 |
63,588,948 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9307:Adam23
|
UTSW |
1 |
63,576,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:Adam23
|
UTSW |
1 |
63,584,671 (GRCm39) |
missense |
probably benign |
|
|
R9599:Adam23
|
UTSW |
1 |
63,620,359 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9609:Adam23
|
UTSW |
1 |
63,576,102 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9774:Adam23
|
UTSW |
1 |
63,585,583 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCCATCTCCTGGTAAACAG -3'
(R):5'- AACCTGTCGCTGGTTAGAC -3'
Sequencing Primer
(F):5'- GTGTTTTTCCGAATGTTCCT -3'
(R):5'- GCTGGTTAGACAGATGTAATATTTGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation