Incidental Mutation 'R6845:Adam6a'
| ID |
534729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6a
|
| Ensembl Gene |
ENSMUSG00000043945 |
| Gene Name |
a disintegrin and metallopeptidase domain 6A |
| Synonyms |
Adam6 |
| MMRRC Submission |
044951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6845 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113507528-113510034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113507717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 30
(L30P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053086]
|
| AlphaFold |
B2RSY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053086
AA Change: L30P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: L30P
| 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 |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
95% (53/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
C |
A |
3: 59,659,539 (GRCm39) |
P331T |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,557,342 (GRCm39) |
R1099W |
probably damaging |
Het |
| Cdon |
C |
T |
9: 35,398,252 (GRCm39) |
Q990* |
probably null |
Het |
| Cit |
T |
A |
5: 116,122,947 (GRCm39) |
L1421Q |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,388 (GRCm39) |
S1887P |
possibly damaging |
Het |
| Ddx27 |
T |
C |
2: 166,864,016 (GRCm39) |
C242R |
probably damaging |
Het |
| Dlgap5 |
A |
T |
14: 47,654,020 (GRCm39) |
V3E |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,110,525 (GRCm39) |
F1687I |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Duoxa1 |
A |
T |
2: 122,135,672 (GRCm39) |
Y142* |
probably null |
Het |
| F3 |
A |
G |
3: 121,526,124 (GRCm39) |
K229R |
probably benign |
Het |
| Fance |
A |
G |
17: 28,536,565 (GRCm39) |
R42G |
probably damaging |
Het |
| Foxs1 |
T |
C |
2: 152,774,619 (GRCm39) |
K145E |
probably benign |
Het |
| Gpd1l |
T |
C |
9: 114,762,785 (GRCm39) |
M1V |
probably null |
Het |
| Gpr149 |
T |
A |
3: 62,511,942 (GRCm39) |
H19L |
possibly damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,162,674 (GRCm39) |
Y213H |
probably damaging |
Het |
| Htra1 |
C |
A |
7: 130,538,021 (GRCm39) |
|
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,635,059 (GRCm39) |
I433M |
probably benign |
Het |
| Il3ra |
G |
C |
14: 14,346,517 (GRCm38) |
|
probably null |
Het |
| Kif11 |
C |
T |
19: 37,392,565 (GRCm39) |
L499F |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,835,307 (GRCm39) |
M189T |
probably benign |
Het |
| Klk1b3 |
G |
A |
7: 43,851,127 (GRCm39) |
A187T |
probably benign |
Het |
| Klre1 |
T |
C |
6: 129,561,202 (GRCm39) |
S188P |
probably damaging |
Het |
| Krtap4-13 |
G |
A |
11: 99,700,192 (GRCm39) |
|
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,760,510 (GRCm39) |
T22S |
probably damaging |
Het |
| Lrp10 |
C |
T |
14: 54,707,145 (GRCm39) |
R661C |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,220,864 (GRCm39) |
D107G |
probably benign |
Het |
| Mad1l1 |
C |
A |
5: 139,994,924 (GRCm39) |
A701S |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,231,064 (GRCm39) |
Y1237* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,183,963 (GRCm39) |
D278G |
probably benign |
Het |
| Myh6 |
G |
A |
14: 55,182,206 (GRCm39) |
S1734L |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
| Nol4l |
T |
C |
2: 153,258,582 (GRCm39) |
T602A |
probably benign |
Het |
| Or5b109 |
T |
A |
19: 13,211,997 (GRCm39) |
C128S |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,466,465 (GRCm39) |
H894L |
probably benign |
Het |
| Phldb1 |
A |
T |
9: 44,627,359 (GRCm39) |
I362N |
probably damaging |
Het |
| Plcxd2 |
T |
A |
16: 45,830,223 (GRCm39) |
|
probably benign |
Het |
| Ppp1r13l |
G |
T |
7: 19,105,323 (GRCm39) |
R365L |
probably damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,394 (GRCm39) |
T237A |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,468,459 (GRCm39) |
S85T |
possibly damaging |
Het |
| Rnf133 |
A |
G |
6: 23,649,341 (GRCm39) |
V196A |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,432,528 (GRCm39) |
V1016A |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,870,466 (GRCm39) |
D73G |
probably benign |
Het |
| Slc34a2 |
T |
A |
5: 53,226,511 (GRCm39) |
F545I |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,775,000 (GRCm38) |
M810K |
probably damaging |
Het |
| Ss18 |
A |
T |
18: 14,788,221 (GRCm39) |
M83K |
possibly damaging |
Het |
| Tkfc |
T |
C |
19: 10,576,696 (GRCm39) |
R94G |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,668 (GRCm39) |
C757* |
probably null |
Het |
| Trav13n-4 |
T |
C |
14: 53,599,856 (GRCm39) |
L11P |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,971,753 (GRCm39) |
M138V |
possibly damaging |
Het |
| Utp18 |
G |
A |
11: 93,776,582 (GRCm39) |
|
probably benign |
Het |
| Vps33a |
A |
G |
5: 123,673,335 (GRCm39) |
V417A |
probably benign |
Het |
| Zfp207 |
C |
T |
11: 80,286,317 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R7230:Adam6a
|
UTSW |
12 |
113,509,202 (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'- ACCCAGTGACTGTTACCTAACTC -3'
(R):5'- ATGAGTGTCTTTCTCCGCAG -3'
Sequencing Primer
(F):5'- AGTGACTGTTACCTAACTCCAGTTG -3'
(R):5'- CGCAGGTGGATGATATGTCTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation