Incidental Mutation 'R6847:Adam26a'
| ID |
534813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam26a
|
| Ensembl Gene |
ENSMUSG00000048516 |
| Gene Name |
ADAM metallopeptidase domain 26A |
| Synonyms |
Dtgn4, Adam26 |
| MMRRC Submission |
045021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6847 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
44021315-44029744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44021465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 675
(I675T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049577]
|
| AlphaFold |
Q9R158 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049577
AA Change: I675T
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: I675T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
29 |
147 |
2.1e-18 |
PFAM |
|
Pfam:Reprolysin_5
|
193 |
364 |
4.8e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
194 |
380 |
2.2e-9 |
PFAM |
|
Pfam:Reprolysin
|
195 |
385 |
2.7e-48 |
PFAM |
|
Pfam:Reprolysin_2
|
215 |
377 |
2.4e-16 |
PFAM |
|
Pfam:Reprolysin_3
|
219 |
340 |
1.2e-15 |
PFAM |
|
DISIN
|
401 |
476 |
2.98e-41 |
SMART |
|
ACR
|
477 |
613 |
2.06e-64 |
SMART |
|
transmembrane domain
|
671 |
693 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (50/50) |
| 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. This gene is expressed in a regulated fashion during the late stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. This gene is located adjacent to two other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
T |
1: 25,133,003 (GRCm39) |
M1121K |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,233,797 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
T |
A |
13: 4,488,497 (GRCm39) |
C34* |
probably null |
Het |
| Akt3 |
G |
A |
1: 176,859,225 (GRCm39) |
P449S |
probably damaging |
Het |
| Atg2b |
A |
T |
12: 105,602,047 (GRCm39) |
V1643E |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,295,778 (GRCm39) |
I819V |
probably damaging |
Het |
| Casp3 |
C |
T |
8: 47,089,301 (GRCm39) |
A183V |
probably benign |
Het |
| Cdk1 |
A |
T |
10: 69,174,358 (GRCm39) |
D288E |
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,399,281 (GRCm39) |
K2268E |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,792,857 (GRCm39) |
E164G |
probably benign |
Het |
| Cubn |
A |
C |
2: 13,449,064 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
T |
10: 128,652,656 (GRCm39) |
E571D |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eef1b2 |
A |
G |
1: 63,217,648 (GRCm39) |
E44G |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,768,447 (GRCm39) |
V747I |
probably benign |
Het |
| Ext1 |
T |
G |
15: 53,208,550 (GRCm39) |
Q70H |
probably benign |
Het |
| Gbp2b |
T |
A |
3: 142,303,940 (GRCm39) |
C12S |
probably damaging |
Het |
| Gbp8 |
A |
C |
5: 105,179,093 (GRCm39) |
D135E |
probably benign |
Het |
| Gm12886 |
A |
T |
4: 121,273,916 (GRCm39) |
L100* |
probably null |
Het |
| Gpatch1 |
A |
T |
7: 34,992,983 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
A |
T |
19: 34,588,925 (GRCm39) |
M34L |
probably benign |
Het |
| Il12a |
G |
T |
3: 68,602,899 (GRCm39) |
D160Y |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,212,816 (GRCm39) |
L241P |
probably damaging |
Het |
| Krt80 |
T |
C |
15: 101,256,610 (GRCm39) |
E195G |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,289,738 (GRCm39) |
V268A |
probably damaging |
Het |
| Lrrfip1 |
A |
T |
1: 91,032,850 (GRCm39) |
D216V |
probably damaging |
Het |
| Meis3 |
A |
G |
7: 15,917,789 (GRCm39) |
N314S |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,965,451 (GRCm39) |
I1119F |
possibly damaging |
Het |
| Nav2 |
A |
T |
7: 49,141,204 (GRCm39) |
Q916H |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,229,606 (GRCm39) |
Q22L |
probably damaging |
Het |
| Or5b118 |
A |
T |
19: 13,448,402 (GRCm39) |
I23F |
probably benign |
Het |
| P2rx4 |
G |
A |
5: 122,865,814 (GRCm39) |
V329M |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,754,279 (GRCm39) |
|
probably benign |
Het |
| Pgp |
T |
C |
17: 24,690,375 (GRCm39) |
L267P |
probably damaging |
Het |
| Pou2af2 |
G |
A |
9: 51,201,504 (GRCm39) |
T184M |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,859,520 (GRCm39) |
S1257A |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,695,164 (GRCm39) |
N1434S |
unknown |
Het |
| Psmc3ip |
A |
T |
11: 100,985,999 (GRCm39) |
H40Q |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,016,283 (GRCm39) |
N526K |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,667,249 (GRCm39) |
D138E |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,663 (GRCm39) |
N220D |
probably benign |
Het |
| Siva1 |
G |
A |
12: 112,611,344 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
A |
G |
2: 14,454,728 (GRCm39) |
H546R |
probably damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,271,468 (GRCm39) |
A497V |
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,249,859 (GRCm39) |
K95N |
probably damaging |
Het |
| Speer1a |
G |
A |
5: 11,394,134 (GRCm39) |
V78M |
probably damaging |
Het |
| Traj50 |
T |
A |
14: 54,405,101 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,813,472 (GRCm39) |
V1261A |
probably damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,566,700 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Adam26a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Adam26a
|
APN |
8 |
44,021,896 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL00519:Adam26a
|
APN |
8 |
44,022,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00658:Adam26a
|
APN |
8 |
44,021,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01514:Adam26a
|
APN |
8 |
44,021,485 (GRCm39) |
missense |
probably benign |
|
|
IGL01988:Adam26a
|
APN |
8 |
44,022,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02030:Adam26a
|
APN |
8 |
44,021,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02081:Adam26a
|
APN |
8 |
44,023,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02444:Adam26a
|
APN |
8 |
44,022,710 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02734:Adam26a
|
APN |
8 |
44,022,812 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03243:Adam26a
|
APN |
8 |
44,021,733 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03350:Adam26a
|
APN |
8 |
44,022,589 (GRCm39) |
nonsense |
probably null |
|
|
R0206:Adam26a
|
UTSW |
8 |
44,023,455 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0206:Adam26a
|
UTSW |
8 |
44,023,455 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0324:Adam26a
|
UTSW |
8 |
44,021,490 (GRCm39) |
missense |
probably benign |
|
|
R0830:Adam26a
|
UTSW |
8 |
44,021,439 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0960:Adam26a
|
UTSW |
8 |
44,021,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1259:Adam26a
|
UTSW |
8 |
44,021,750 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1259:Adam26a
|
UTSW |
8 |
44,021,684 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1403:Adam26a
|
UTSW |
8 |
44,022,229 (GRCm39) |
nonsense |
probably null |
|
|
R1403:Adam26a
|
UTSW |
8 |
44,022,229 (GRCm39) |
nonsense |
probably null |
|
|
R1719:Adam26a
|
UTSW |
8 |
44,023,073 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1750:Adam26a
|
UTSW |
8 |
44,023,226 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1860:Adam26a
|
UTSW |
8 |
44,022,578 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1861:Adam26a
|
UTSW |
8 |
44,022,578 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1875:Adam26a
|
UTSW |
8 |
44,022,888 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3959:Adam26a
|
UTSW |
8 |
44,022,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4355:Adam26a
|
UTSW |
8 |
44,023,222 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4604:Adam26a
|
UTSW |
8 |
44,023,088 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4612:Adam26a
|
UTSW |
8 |
44,021,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4909:Adam26a
|
UTSW |
8 |
44,023,475 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4937:Adam26a
|
UTSW |
8 |
44,021,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Adam26a
|
UTSW |
8 |
44,021,893 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5276:Adam26a
|
UTSW |
8 |
44,023,457 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5406:Adam26a
|
UTSW |
8 |
44,022,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Adam26a
|
UTSW |
8 |
44,022,941 (GRCm39) |
nonsense |
probably null |
|
|
R5955:Adam26a
|
UTSW |
8 |
44,022,889 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6262:Adam26a
|
UTSW |
8 |
44,022,125 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6957:Adam26a
|
UTSW |
8 |
44,021,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7053:Adam26a
|
UTSW |
8 |
44,021,836 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Adam26a
|
UTSW |
8 |
44,023,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7393:Adam26a
|
UTSW |
8 |
44,022,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7477:Adam26a
|
UTSW |
8 |
44,022,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Adam26a
|
UTSW |
8 |
44,023,007 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7670:Adam26a
|
UTSW |
8 |
44,023,190 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7918:Adam26a
|
UTSW |
8 |
44,022,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8193:Adam26a
|
UTSW |
8 |
44,022,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8262:Adam26a
|
UTSW |
8 |
44,022,178 (GRCm39) |
nonsense |
probably null |
|
|
R8987:Adam26a
|
UTSW |
8 |
44,022,358 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9104:Adam26a
|
UTSW |
8 |
44,023,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9350:Adam26a
|
UTSW |
8 |
44,022,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9487:Adam26a
|
UTSW |
8 |
44,022,456 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9550:Adam26a
|
UTSW |
8 |
44,022,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Adam26a
|
UTSW |
8 |
44,021,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Adam26a
|
UTSW |
8 |
44,022,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACAAATGTATGGGTGCCTC -3'
(R):5'- TTCTGGTAAGTAACTGTTCACCAC -3'
Sequencing Primer
(F):5'- GACAGAGACACTCAGATACAGAGC -3'
(R):5'- GTTCACCACAGTTATACCATATGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation