Incidental Mutation 'R7230:Adam6a'
ID |
562429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam6a
|
Ensembl Gene |
ENSMUSG00000043945 |
Gene Name |
a disintegrin and metallopeptidase domain 6A |
Synonyms |
Adam6 |
MMRRC Submission |
045302-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R7230 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
113507528-113510034 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 113509202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 525
(Q525P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053086]
|
AlphaFold |
B2RSY5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053086
AA Change: Q525P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059315 Gene: ENSMUSG00000043945 AA Change: Q525P
Domain | Start | End | E-Value | Type |
Pfam:Pep_M12B_propep
|
30 |
167 |
6.9e-17 |
PFAM |
Pfam:Reprolysin
|
222 |
407 |
4e-15 |
PFAM |
DISIN
|
427 |
502 |
1.63e-33 |
SMART |
ACR
|
503 |
640 |
7.46e-62 |
SMART |
transmembrane domain
|
704 |
726 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
C |
7: 45,766,812 (GRCm39) |
D989E |
probably benign |
Het |
Adad1 |
A |
G |
3: 37,119,315 (GRCm39) |
Y132C |
probably damaging |
Het |
Adam33 |
A |
T |
2: 130,895,483 (GRCm39) |
C579S |
probably damaging |
Het |
Alpk3 |
C |
T |
7: 80,743,042 (GRCm39) |
P953L |
probably damaging |
Het |
Arb2a |
G |
A |
13: 77,907,591 (GRCm39) |
E5K |
probably damaging |
Het |
Atat1 |
A |
G |
17: 36,220,331 (GRCm39) |
S54P |
probably damaging |
Het |
Bpgm |
A |
G |
6: 34,464,502 (GRCm39) |
E73G |
possibly damaging |
Het |
Cab39 |
T |
A |
1: 85,775,880 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
A |
G |
10: 41,554,809 (GRCm39) |
L285P |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,196,979 (GRCm39) |
E429G |
possibly damaging |
Het |
Cct3 |
C |
T |
3: 88,220,567 (GRCm39) |
R260W |
probably damaging |
Het |
Chd1 |
C |
A |
17: 15,927,199 (GRCm39) |
|
probably null |
Het |
Cxcr4 |
T |
G |
1: 128,517,527 (GRCm39) |
T45P |
probably damaging |
Het |
Disp2 |
G |
T |
2: 118,622,286 (GRCm39) |
R1006L |
probably damaging |
Het |
Dlec1 |
T |
G |
9: 118,953,606 (GRCm39) |
|
probably null |
Het |
Dram2 |
T |
G |
3: 106,480,294 (GRCm39) |
Y202* |
probably null |
Het |
Etl4 |
C |
A |
2: 20,802,799 (GRCm39) |
T1035K |
probably damaging |
Het |
F5 |
T |
C |
1: 164,012,522 (GRCm39) |
F479L |
probably benign |
Het |
Frrs1l |
C |
A |
4: 56,972,372 (GRCm39) |
G110W |
probably damaging |
Het |
Gpbp1l1 |
T |
A |
4: 116,445,807 (GRCm39) |
I303N |
probably damaging |
Het |
Grik5 |
A |
G |
7: 24,722,495 (GRCm39) |
F538S |
probably damaging |
Het |
Hgsnat |
C |
A |
8: 26,444,860 (GRCm39) |
|
probably null |
Het |
Hs2st1 |
T |
C |
3: 144,140,307 (GRCm39) |
D338G |
probably benign |
Het |
Impdh1 |
T |
C |
6: 29,206,062 (GRCm39) |
|
probably null |
Het |
Ipo9 |
T |
C |
1: 135,334,496 (GRCm39) |
|
probably benign |
Het |
Kdm4b |
T |
G |
17: 56,676,155 (GRCm39) |
L220R |
probably damaging |
Het |
Map1a |
T |
A |
2: 121,131,299 (GRCm39) |
F705Y |
probably damaging |
Het |
Med22 |
C |
T |
2: 26,798,223 (GRCm39) |
D99N |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,235,479 (GRCm39) |
Y519C |
probably damaging |
Het |
Myt1l |
A |
G |
12: 29,833,873 (GRCm39) |
I25M |
probably damaging |
Het |
Ncam1 |
T |
A |
9: 49,421,123 (GRCm39) |
I731F |
probably benign |
Het |
Nlrp4f |
T |
A |
13: 65,342,715 (GRCm39) |
H310L |
probably benign |
Het |
Or2ag1b |
A |
T |
7: 106,288,731 (GRCm39) |
M69K |
possibly damaging |
Het |
Or2ag2b |
C |
A |
7: 106,417,386 (GRCm39) |
T32K |
possibly damaging |
Het |
Or4f14 |
T |
A |
2: 111,742,906 (GRCm39) |
Y123F |
probably damaging |
Het |
Or4k40 |
A |
T |
2: 111,251,261 (GRCm39) |
F12I |
probably damaging |
Het |
Prl8a6 |
T |
A |
13: 27,617,021 (GRCm39) |
Y223F |
probably benign |
Het |
Prss39 |
A |
G |
1: 34,541,228 (GRCm39) |
D244G |
probably damaging |
Het |
Ptx4 |
A |
T |
17: 25,342,077 (GRCm39) |
Q184L |
possibly damaging |
Het |
Slc26a1 |
A |
T |
5: 108,819,611 (GRCm39) |
D545E |
probably damaging |
Het |
Slc7a12 |
T |
C |
3: 14,570,441 (GRCm39) |
S398P |
probably damaging |
Het |
Slc9a4 |
T |
C |
1: 40,639,931 (GRCm39) |
V241A |
probably damaging |
Het |
Snw1 |
T |
C |
12: 87,511,324 (GRCm39) |
D109G |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,980,674 (GRCm39) |
I1477K |
probably benign |
Het |
Timd4 |
A |
T |
11: 46,701,691 (GRCm39) |
Y18F |
probably benign |
Het |
Tmprss2 |
A |
G |
16: 97,379,797 (GRCm39) |
Y168H |
probably benign |
Het |
Ttn |
A |
T |
2: 76,569,044 (GRCm39) |
I27283K |
probably damaging |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Vasn |
C |
T |
16: 4,467,486 (GRCm39) |
R478C |
probably benign |
Het |
Zfp58 |
A |
T |
13: 67,640,082 (GRCm39) |
C136* |
probably null |
Het |
|
Other mutations in Adam6a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00580:Adam6a
|
APN |
12 |
113,508,845 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00896:Adam6a
|
APN |
12 |
113,509,030 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL01146:Adam6a
|
APN |
12 |
113,507,840 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01285:Adam6a
|
APN |
12 |
113,509,893 (GRCm39) |
makesense |
probably null |
|
IGL01839:Adam6a
|
APN |
12 |
113,508,242 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01906:Adam6a
|
APN |
12 |
113,507,951 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02306:Adam6a
|
APN |
12 |
113,509,343 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03146:Adam6a
|
APN |
12 |
113,509,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03176:Adam6a
|
APN |
12 |
113,509,822 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03365:Adam6a
|
APN |
12 |
113,507,765 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03373:Adam6a
|
APN |
12 |
113,509,172 (GRCm39) |
missense |
possibly damaging |
0.55 |
PIT4802001:Adam6a
|
UTSW |
12 |
113,509,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:Adam6a
|
UTSW |
12 |
113,507,849 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0149:Adam6a
|
UTSW |
12 |
113,509,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0348:Adam6a
|
UTSW |
12 |
113,508,337 (GRCm39) |
missense |
probably damaging |
0.99 |
R0376:Adam6a
|
UTSW |
12 |
113,508,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R1471:Adam6a
|
UTSW |
12 |
113,508,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R1474:Adam6a
|
UTSW |
12 |
113,508,069 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1553:Adam6a
|
UTSW |
12 |
113,508,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R1679:Adam6a
|
UTSW |
12 |
113,508,376 (GRCm39) |
missense |
probably benign |
0.00 |
R1808:Adam6a
|
UTSW |
12 |
113,508,334 (GRCm39) |
missense |
probably benign |
0.00 |
R1826:Adam6a
|
UTSW |
12 |
113,509,742 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1856:Adam6a
|
UTSW |
12 |
113,508,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R1916:Adam6a
|
UTSW |
12 |
113,509,556 (GRCm39) |
missense |
probably benign |
|
R2011:Adam6a
|
UTSW |
12 |
113,508,998 (GRCm39) |
missense |
probably benign |
0.09 |
R2049:Adam6a
|
UTSW |
12 |
113,508,049 (GRCm39) |
missense |
probably benign |
0.17 |
R2364:Adam6a
|
UTSW |
12 |
113,508,250 (GRCm39) |
missense |
probably benign |
0.05 |
R3820:Adam6a
|
UTSW |
12 |
113,507,798 (GRCm39) |
missense |
probably benign |
0.00 |
R4119:Adam6a
|
UTSW |
12 |
113,508,194 (GRCm39) |
missense |
probably benign |
0.06 |
R4540:Adam6a
|
UTSW |
12 |
113,508,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Adam6a
|
UTSW |
12 |
113,508,569 (GRCm39) |
missense |
probably benign |
|
R4665:Adam6a
|
UTSW |
12 |
113,507,992 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4859:Adam6a
|
UTSW |
12 |
113,509,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Adam6a
|
UTSW |
12 |
113,508,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R5270:Adam6a
|
UTSW |
12 |
113,507,747 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5751:Adam6a
|
UTSW |
12 |
113,508,447 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5775:Adam6a
|
UTSW |
12 |
113,509,886 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5863:Adam6a
|
UTSW |
12 |
113,507,987 (GRCm39) |
missense |
probably benign |
0.01 |
R6154:Adam6a
|
UTSW |
12 |
113,509,292 (GRCm39) |
missense |
probably benign |
0.11 |
R6313:Adam6a
|
UTSW |
12 |
113,508,670 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6316:Adam6a
|
UTSW |
12 |
113,509,196 (GRCm39) |
missense |
probably benign |
0.27 |
R6706:Adam6a
|
UTSW |
12 |
113,508,886 (GRCm39) |
missense |
probably benign |
0.00 |
R6845:Adam6a
|
UTSW |
12 |
113,507,717 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7134:Adam6a
|
UTSW |
12 |
113,508,655 (GRCm39) |
missense |
probably benign |
0.04 |
R7179:Adam6a
|
UTSW |
12 |
113,509,291 (GRCm39) |
missense |
probably benign |
0.02 |
R7206:Adam6a
|
UTSW |
12 |
113,509,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Adam6a
|
UTSW |
12 |
113,509,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7676:Adam6a
|
UTSW |
12 |
113,508,196 (GRCm39) |
missense |
probably benign |
0.00 |
R7730:Adam6a
|
UTSW |
12 |
113,507,660 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7743:Adam6a
|
UTSW |
12 |
113,508,152 (GRCm39) |
missense |
probably benign |
|
R7841:Adam6a
|
UTSW |
12 |
113,509,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R8356:Adam6a
|
UTSW |
12 |
113,509,757 (GRCm39) |
missense |
probably benign |
0.08 |
R8531:Adam6a
|
UTSW |
12 |
113,508,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R9568:Adam6a
|
UTSW |
12 |
113,508,020 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9624:Adam6a
|
UTSW |
12 |
113,509,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R9679:Adam6a
|
UTSW |
12 |
113,509,542 (GRCm39) |
missense |
probably benign |
0.00 |
R9680:Adam6a
|
UTSW |
12 |
113,509,484 (GRCm39) |
nonsense |
probably null |
|
X0027:Adam6a
|
UTSW |
12 |
113,508,863 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Adam6a
|
UTSW |
12 |
113,508,941 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAATGATTGCAGGTTAACACC -3'
(R):5'- TGGTGACATTGGTACACTGC -3'
Sequencing Primer
(F):5'- GCAAATTGCACTTACAGTCCTTCTGG -3'
(R):5'- GTGACATTGGTACACTGCAACCTTC -3'
|
Posted On |
2019-06-26 |