Incidental Mutation 'R5270:Adam6a'
| ID |
400222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6a
|
| Ensembl Gene |
ENSMUSG00000043945 |
| Gene Name |
a disintegrin and metallopeptidase domain 6A |
| Synonyms |
Adam6 |
| MMRRC Submission |
042835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5270 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113507528-113510034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113507747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 40
(H40L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053086]
|
| AlphaFold |
B2RSY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053086
AA Change: H40L
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: H40L
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,282,650 (GRCm39) |
V585A |
possibly damaging |
Het |
| Adamts20 |
G |
A |
15: 94,180,400 (GRCm39) |
P1752S |
probably benign |
Het |
| Atp5if1 |
A |
G |
4: 132,260,611 (GRCm39) |
F27L |
probably damaging |
Het |
| B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
| Ciz1 |
C |
A |
2: 32,264,511 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
A |
1: 139,164,602 (GRCm39) |
Y1174F |
probably damaging |
Het |
| Csf2rb2 |
A |
T |
15: 78,176,182 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,918,312 (GRCm39) |
M433K |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,783,270 (GRCm39) |
I735V |
probably benign |
Het |
| Dpp6 |
C |
T |
5: 27,839,532 (GRCm39) |
S349L |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,026,778 (GRCm39) |
N1256K |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,244 (GRCm39) |
V255A |
probably damaging |
Het |
| Gabrb1 |
A |
T |
5: 72,265,669 (GRCm39) |
D155V |
probably damaging |
Het |
| Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
| Hcrt |
T |
C |
11: 100,652,823 (GRCm39) |
T64A |
probably damaging |
Het |
| Henmt1 |
G |
A |
3: 108,867,530 (GRCm39) |
R355H |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,458,179 (GRCm39) |
R487S |
possibly damaging |
Het |
| Ints2 |
T |
C |
11: 86,106,621 (GRCm39) |
S930G |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,056,678 (GRCm39) |
Q585* |
probably null |
Het |
| Kcns1 |
C |
A |
2: 164,010,249 (GRCm39) |
R170L |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,960,467 (GRCm39) |
S1351P |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,428,730 (GRCm39) |
T297A |
probably damaging |
Het |
| M6pr |
G |
A |
6: 122,292,048 (GRCm39) |
D127N |
possibly damaging |
Het |
| Macir |
T |
C |
1: 97,573,720 (GRCm39) |
Q115R |
probably damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Nit2 |
G |
A |
16: 56,977,494 (GRCm39) |
P179S |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,994,424 (GRCm39) |
M516T |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,702,528 (GRCm39) |
I1136N |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,468 (GRCm39) |
M243V |
probably damaging |
Het |
| Prdm9 |
G |
T |
17: 15,773,625 (GRCm39) |
T257K |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,552,819 (GRCm39) |
L2085P |
probably damaging |
Het |
| Rasgrf1 |
A |
C |
9: 89,908,747 (GRCm39) |
E1240D |
probably benign |
Het |
| Rrh |
T |
C |
3: 129,606,998 (GRCm39) |
I142V |
probably benign |
Het |
| Saal1 |
G |
T |
7: 46,351,157 (GRCm39) |
|
probably benign |
Het |
| Sdcbp2 |
A |
G |
2: 151,426,812 (GRCm39) |
I70V |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,052,460 (GRCm39) |
A231S |
probably benign |
Het |
| Smtnl2 |
T |
A |
11: 72,290,743 (GRCm39) |
T401S |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Spag4 |
G |
T |
2: 155,907,853 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,283 (GRCm39) |
M179V |
probably benign |
Het |
| Tm9sf1 |
G |
T |
14: 55,873,938 (GRCm39) |
T520N |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Vmn1r47 |
A |
T |
6: 89,999,525 (GRCm39) |
Q219L |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,258,528 (GRCm39) |
C539S |
probably damaging |
Het |
| Wdr17 |
G |
T |
8: 55,096,221 (GRCm39) |
S1024R |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,440 (GRCm39) |
T850A |
unknown |
Het |
| Zfa-ps |
A |
G |
10: 52,419,552 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
| Zfp353-ps |
G |
T |
8: 42,534,572 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp607a |
A |
T |
7: 27,577,730 (GRCm39) |
K267* |
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 |
|
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 |
|
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'- TGTTACCTAACTCCAGTTGTCTGG -3'
(R):5'- ACAAGTGTCTGGGCCAAATG -3'
Sequencing Primer
(F):5'- CCACTTAGGTTGGGAGCCTGAG -3'
(R):5'- AAATGAGTGTCTTTCTCCGCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation