Incidental Mutation 'R9550:Adam26a'
ID |
720439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam26a
|
Ensembl Gene |
ENSMUSG00000048516 |
Gene Name |
ADAM metallopeptidase domain 26A |
Synonyms |
Dtgn4, Adam26 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9550 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
44021315-44029744 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44022120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 457
(C457R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049577]
|
AlphaFold |
Q9R158 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049577
AA Change: C457R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000058256 Gene: ENSMUSG00000048516 AA Change: C457R
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: 99.6%
- 20x: 99.1%
|
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. 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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
A |
T |
6: 92,878,429 (GRCm39) |
V546E |
probably benign |
Het |
Add3 |
G |
A |
19: 53,233,521 (GRCm39) |
E641K |
possibly damaging |
Het |
Anks1b |
T |
A |
10: 90,412,360 (GRCm39) |
M1K |
probably null |
Het |
C1s2 |
G |
A |
6: 124,605,253 (GRCm39) |
Q361* |
probably null |
Het |
Casp4 |
T |
C |
9: 5,328,465 (GRCm39) |
S316P |
probably damaging |
Het |
Cby2 |
A |
G |
14: 75,820,603 (GRCm39) |
V374A |
probably damaging |
Het |
Cdyl |
A |
G |
13: 36,000,147 (GRCm39) |
T143A |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,858,598 (GRCm39) |
T760A |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,119,439 (GRCm39) |
L1035P |
probably damaging |
Het |
Cpne8 |
T |
C |
15: 90,453,760 (GRCm39) |
I208V |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,340,387 (GRCm39) |
L641P |
probably damaging |
Het |
Dlgap1 |
T |
A |
17: 71,093,902 (GRCm39) |
M741K |
possibly damaging |
Het |
Dnajc16 |
T |
C |
4: 141,495,058 (GRCm39) |
Y518C |
possibly damaging |
Het |
Dtnb |
A |
G |
12: 3,768,437 (GRCm39) |
N343D |
possibly damaging |
Het |
Dusp3 |
A |
T |
11: 101,872,668 (GRCm39) |
S43T |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Espn |
C |
T |
4: 152,215,534 (GRCm39) |
R575H |
probably damaging |
Het |
Gls |
A |
T |
1: 52,251,373 (GRCm39) |
L328* |
probably null |
Het |
H2-T23 |
T |
C |
17: 36,342,712 (GRCm39) |
D142G |
probably damaging |
Het |
Hck |
A |
G |
2: 152,976,651 (GRCm39) |
M262V |
probably benign |
Het |
Igkv14-126 |
G |
T |
6: 67,873,199 (GRCm39) |
L13F |
possibly damaging |
Het |
Muc2 |
C |
T |
7: 141,308,242 (GRCm39) |
R913C |
probably damaging |
Het |
Mypop |
A |
T |
7: 18,726,245 (GRCm39) |
T71S |
probably damaging |
Het |
Nadsyn1 |
A |
G |
7: 143,353,615 (GRCm39) |
I536T |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,474,910 (GRCm39) |
E830G |
possibly damaging |
Het |
Or1q1 |
T |
A |
2: 36,887,137 (GRCm39) |
I105N |
probably damaging |
Het |
Or8d2b |
T |
C |
9: 38,788,937 (GRCm39) |
V155A |
probably benign |
Het |
Pcdha8 |
A |
T |
18: 37,127,399 (GRCm39) |
Y627F |
possibly damaging |
Het |
Polr1b |
T |
A |
2: 128,962,205 (GRCm39) |
S742R |
unknown |
Het |
Ppm1e |
A |
T |
11: 87,121,919 (GRCm39) |
N679K |
probably benign |
Het |
Raly |
AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG |
AGCAGCAGTGGTGGAGG |
2: 154,705,754 (GRCm39) |
|
probably benign |
Het |
Rgs12 |
G |
T |
5: 35,196,665 (GRCm39) |
G1430C |
probably damaging |
Het |
Rhcg |
T |
C |
7: 79,248,296 (GRCm39) |
Y436C |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,822,807 (GRCm39) |
D918G |
probably benign |
Het |
Rlf |
A |
G |
4: 121,003,620 (GRCm39) |
F1897L |
probably damaging |
Het |
Sin3a |
T |
C |
9: 56,996,768 (GRCm39) |
V99A |
probably benign |
Het |
Slc22a29 |
A |
T |
19: 8,195,224 (GRCm39) |
L137* |
probably null |
Het |
Sufu |
A |
G |
19: 46,385,675 (GRCm39) |
Y45C |
probably damaging |
Het |
Thsd1 |
C |
T |
8: 22,733,026 (GRCm39) |
|
probably benign |
Het |
Tiam2 |
T |
A |
17: 3,559,706 (GRCm39) |
L1249Q |
probably damaging |
Het |
Toe1 |
C |
T |
4: 116,661,916 (GRCm39) |
V418M |
probably benign |
Het |
Trappc12 |
T |
C |
12: 28,761,985 (GRCm39) |
|
probably null |
Het |
Triobp |
A |
G |
15: 78,858,077 (GRCm39) |
D1226G |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,464,572 (GRCm39) |
S1602P |
probably damaging |
Het |
Zfp266 |
T |
C |
9: 20,410,482 (GRCm39) |
K565R |
probably damaging |
Het |
Zfp319 |
T |
C |
8: 96,055,025 (GRCm39) |
T393A |
probably benign |
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 |
R6847:Adam26a
|
UTSW |
8 |
44,021,465 (GRCm39) |
missense |
probably benign |
0.23 |
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 |
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'- ATTGCCACAGTTCCCAAAGC -3'
(R):5'- TGACCGTGTGTGGGAATAAG -3'
Sequencing Primer
(F):5'- AAAGCGGTCACCCTGTCTG -3'
(R):5'- TGTGGGAATAAGGTGGTTGAAG -3'
|
Posted On |
2022-08-09 |