Incidental Mutation 'R7053:Adam26a'
ID |
547715 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam26a
|
Ensembl Gene |
ENSMUSG00000048516 |
Gene Name |
ADAM metallopeptidase domain 26A |
Synonyms |
Dtgn4, Adam26 |
MMRRC Submission |
045150-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7053 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
44021315-44029744 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 44021836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 551
(C551*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049577]
|
AlphaFold |
Q9R158 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049577
AA Change: C551*
|
SMART Domains |
Protein: ENSMUSP00000058256 Gene: ENSMUSG00000048516 AA Change: C551*
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: 100.0%
- 10x: 99.7%
- 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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l1 |
C |
A |
6: 90,540,420 (GRCm39) |
T235K |
possibly damaging |
Het |
Atp6v0a2 |
A |
G |
5: 124,783,923 (GRCm39) |
E257G |
probably damaging |
Het |
AW146154 |
A |
G |
7: 41,131,988 (GRCm39) |
|
probably null |
Het |
BC048507 |
T |
C |
13: 68,011,772 (GRCm39) |
Y50H |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,083,791 (GRCm39) |
N77D |
possibly damaging |
Het |
Ccdc13 |
T |
C |
9: 121,662,904 (GRCm39) |
E37G |
probably damaging |
Het |
Ccn6 |
A |
G |
10: 39,034,297 (GRCm39) |
Y102H |
probably damaging |
Het |
Col27a1 |
T |
A |
4: 63,251,404 (GRCm39) |
|
probably benign |
Het |
Corin |
T |
A |
5: 72,458,870 (GRCm39) |
I960L |
probably benign |
Het |
Csnk2b |
A |
G |
17: 35,335,422 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,676,801 (GRCm39) |
S182G |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,851,666 (GRCm39) |
L74P |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,660,740 (GRCm39) |
D838G |
probably damaging |
Het |
Dkkl1 |
G |
T |
7: 44,857,022 (GRCm39) |
Q182K |
probably damaging |
Het |
Dnai2 |
T |
C |
11: 114,629,521 (GRCm39) |
S183P |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,344,161 (GRCm39) |
L1835P |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,225,328 (GRCm39) |
|
probably null |
Het |
Fam174a |
C |
T |
1: 95,252,953 (GRCm39) |
A185V |
probably damaging |
Het |
Fhip1b |
C |
T |
7: 105,033,779 (GRCm39) |
G479D |
probably damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Grid2 |
G |
T |
6: 64,677,402 (GRCm39) |
A74S |
unknown |
Het |
Gsdma3 |
T |
A |
11: 98,520,621 (GRCm39) |
M84K |
possibly damaging |
Het |
Hlcs |
A |
T |
16: 94,068,874 (GRCm39) |
S262R |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,376,963 (GRCm39) |
C4205R |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,157,218 (GRCm39) |
A181V |
probably benign |
Het |
Mdga2 |
T |
A |
12: 66,736,158 (GRCm39) |
I357F |
probably benign |
Het |
Mfn1 |
A |
G |
3: 32,586,114 (GRCm39) |
I21V |
probably benign |
Het |
Mgat4b |
C |
T |
11: 50,124,367 (GRCm39) |
T409M |
probably damaging |
Het |
Mgat4d |
G |
T |
8: 84,098,261 (GRCm39) |
K341N |
probably damaging |
Het |
Mpo |
A |
T |
11: 87,694,336 (GRCm39) |
N109Y |
probably damaging |
Het |
Mvp |
T |
C |
7: 126,586,776 (GRCm39) |
Q785R |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,189,145 (GRCm39) |
V88A |
probably damaging |
Het |
Oasl2 |
A |
T |
5: 115,049,291 (GRCm39) |
I464L |
possibly damaging |
Het |
Or5m11b |
G |
T |
2: 85,806,358 (GRCm39) |
C257F |
possibly damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,740,681 (GRCm39) |
F2139L |
probably damaging |
Het |
Pop1 |
T |
G |
15: 34,530,421 (GRCm39) |
S940A |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 4,905,670 (GRCm39) |
M75K |
probably damaging |
Het |
Prdm15 |
G |
A |
16: 97,595,742 (GRCm39) |
Q1029* |
probably null |
Het |
Rffl |
T |
C |
11: 82,703,497 (GRCm39) |
K142R |
probably null |
Het |
Rhou |
A |
G |
8: 124,380,934 (GRCm39) |
|
probably benign |
Het |
Rp1l1 |
A |
T |
14: 64,268,958 (GRCm39) |
T1515S |
possibly damaging |
Het |
Serpina1b |
T |
A |
12: 103,698,688 (GRCm39) |
S54C |
possibly damaging |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Taok3 |
T |
A |
5: 117,390,627 (GRCm39) |
D529E |
probably benign |
Het |
Tmem18 |
T |
A |
12: 30,634,506 (GRCm39) |
M1K |
probably null |
Het |
Tmem269 |
T |
A |
4: 119,066,464 (GRCm39) |
H198L |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,772,984 (GRCm39) |
V432A |
unknown |
Het |
Ttc6 |
A |
T |
12: 57,707,318 (GRCm39) |
T742S |
probably benign |
Het |
Uhrf2 |
T |
A |
19: 30,069,519 (GRCm39) |
C749S |
probably damaging |
Het |
Unc13c |
G |
A |
9: 73,839,579 (GRCm39) |
T424I |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r61 |
A |
C |
7: 41,916,557 (GRCm39) |
D390A |
probably damaging |
Het |
Xpo7 |
A |
G |
14: 70,922,298 (GRCm39) |
|
probably null |
Het |
Zfp948 |
T |
A |
17: 21,805,121 (GRCm39) |
L37* |
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 |
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 |
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'- CTGACACACTTTCTGTCAACAC -3'
(R):5'- GAATCCCTTGCAGTGGTGAG -3'
Sequencing Primer
(F):5'- CTGTCAACACATATATGGTCTGGAGC -3'
(R):5'- GGGCTATTGCTATAAAATGGAATGTC -3'
|
Posted On |
2019-05-13 |