Incidental Mutation 'R9679:Adam6a'
| ID |
728428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6a
|
| Ensembl Gene |
ENSMUSG00000043945 |
| Gene Name |
a disintegrin and metallopeptidase domain 6A |
| Synonyms |
Adam6 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
113507528-113510034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113509542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 638
(N638K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053086]
|
| AlphaFold |
B2RSY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053086
AA Change: N638K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: N638K
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid5a |
A |
G |
1: 36,357,648 (GRCm39) |
K188E |
possibly damaging |
Het |
| Atp11a |
T |
C |
8: 12,909,388 (GRCm39) |
I1082T |
possibly damaging |
Het |
| Bdp1 |
T |
A |
13: 100,180,285 (GRCm39) |
I1845F |
probably damaging |
Het |
| Ccdc87 |
A |
C |
19: 4,891,299 (GRCm39) |
E597A |
probably benign |
Het |
| Cfap53 |
A |
T |
18: 74,492,656 (GRCm39) |
Q460L |
possibly damaging |
Het |
| Clcn1 |
G |
A |
6: 42,263,753 (GRCm39) |
S18N |
probably damaging |
Het |
| Cntnap3 |
C |
A |
13: 64,899,562 (GRCm39) |
C977F |
probably damaging |
Het |
| Colec11 |
C |
A |
12: 28,644,829 (GRCm39) |
V222L |
probably benign |
Het |
| Dchs2 |
G |
T |
3: 83,261,697 (GRCm39) |
S2655I |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,037,115 (GRCm39) |
T4227A |
probably benign |
Het |
| Dock5 |
G |
A |
14: 68,018,450 (GRCm39) |
R1242W |
probably damaging |
Het |
| Ebf3 |
T |
A |
7: 136,832,964 (GRCm39) |
N237I |
possibly damaging |
Het |
| F2rl3 |
T |
A |
8: 73,489,661 (GRCm39) |
L296Q |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,201,433 (GRCm39) |
I1328T |
probably damaging |
Het |
| Fes |
T |
C |
7: 80,033,050 (GRCm39) |
E258G |
probably benign |
Het |
| Gins4 |
G |
A |
8: 23,717,132 (GRCm39) |
A212V |
probably damaging |
Het |
| Il15 |
T |
C |
8: 83,071,094 (GRCm39) |
Y7C |
probably benign |
Het |
| Il9r |
T |
G |
11: 32,140,853 (GRCm39) |
H395P |
probably benign |
Het |
| Jade1 |
T |
C |
3: 41,567,569 (GRCm39) |
S546P |
probably damaging |
Het |
| Krt72 |
C |
T |
15: 101,685,152 (GRCm39) |
G469D |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,308,457 (GRCm39) |
M52K |
probably damaging |
Het |
| Mamdc2 |
T |
C |
19: 23,351,380 (GRCm39) |
N182S |
probably benign |
Het |
| Mrpl14 |
A |
G |
17: 46,009,240 (GRCm39) |
N113S |
probably damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,280,048 (GRCm39) |
S837P |
possibly damaging |
Het |
| Mtrex |
A |
G |
13: 113,032,055 (GRCm39) |
S586P |
probably damaging |
Het |
| Muc21 |
A |
G |
17: 35,930,491 (GRCm39) |
S1232P |
unknown |
Het |
| Myh11 |
A |
T |
16: 14,095,436 (GRCm39) |
Y109N |
|
Het |
| Nfrkb |
C |
T |
9: 31,321,385 (GRCm39) |
T694M |
probably benign |
Het |
| Nlrp4b |
T |
G |
7: 10,449,184 (GRCm39) |
S462R |
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,345 (GRCm39) |
T194A |
probably benign |
Het |
| Or52e2 |
T |
C |
7: 102,804,652 (GRCm39) |
I101V |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,552,482 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,521 (GRCm39) |
L193P |
possibly damaging |
Het |
| Or6c76 |
A |
G |
10: 129,611,882 (GRCm39) |
Y33C |
probably damaging |
Het |
| Rasip1 |
T |
C |
7: 45,277,327 (GRCm39) |
V45A |
possibly damaging |
Het |
| Rgs22 |
A |
G |
15: 36,087,587 (GRCm39) |
S568P |
probably benign |
Het |
| Sephs1 |
T |
A |
2: 4,898,105 (GRCm39) |
L172Q |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,847,223 (GRCm39) |
L137P |
probably damaging |
Het |
| Slc22a4 |
T |
C |
11: 53,881,599 (GRCm39) |
Y373C |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 65,998,002 (GRCm39) |
D410G |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,606,582 (GRCm39) |
A101D |
probably damaging |
Het |
| Surf4 |
A |
G |
2: 26,814,364 (GRCm39) |
F179S |
probably benign |
Het |
| Taf8 |
C |
T |
17: 47,801,101 (GRCm39) |
R294Q |
unknown |
Het |
| Tnr |
A |
G |
1: 159,719,608 (GRCm39) |
T962A |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,711,618 (GRCm39) |
I51K |
possibly damaging |
Het |
| Traf7 |
CA |
CAA |
17: 24,746,737 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,394,369 (GRCm39) |
Y2305N |
|
Het |
| Vil1 |
C |
A |
1: 74,469,833 (GRCm39) |
Q740K |
probably benign |
Het |
| Vmn1r236 |
T |
C |
17: 21,507,286 (GRCm39) |
F135L |
possibly damaging |
Het |
| Vmn1r57 |
A |
C |
7: 5,224,230 (GRCm39) |
I252L |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,741 (GRCm39) |
L689P |
probably benign |
Het |
| Wdr1 |
A |
G |
5: 38,685,216 (GRCm39) |
L585P |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,450,358 (GRCm39) |
I1057V |
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 |
|
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 |
|
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 |
|
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'- TCAATGCTTGTGCTGATCAGG -3'
(R):5'- TATGCGCCTTTGAACCGGAG -3'
Sequencing Primer
(F):5'- AGGTTGCAGTGTACCAATGTCAC -3'
(R):5'- TGGCAATTCCGACGATTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation