Incidental Mutation 'R1679:Adam6a'
| ID |
188362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam6a
|
| Ensembl Gene |
ENSMUSG00000043945 |
| Gene Name |
a disintegrin and metallopeptidase domain 6A |
| Synonyms |
Adam6 |
| MMRRC Submission |
039715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R1679 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113507528-113510034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113508376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 250
(M250V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053086]
|
| AlphaFold |
B2RSY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053086
AA Change: M250V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: M250V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adgre5 |
C |
A |
8: 84,456,034 (GRCm39) |
R254L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,707,671 (GRCm39) |
L525Q |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,688,210 (GRCm39) |
I205F |
probably benign |
Het |
| Bmp5 |
T |
C |
9: 75,746,877 (GRCm39) |
V245A |
probably benign |
Het |
| Capn8 |
T |
C |
1: 182,441,032 (GRCm39) |
S489P |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,533,316 (GRCm39) |
L76P |
probably damaging |
Het |
| Cd164l2 |
A |
G |
4: 132,948,810 (GRCm39) |
T49A |
probably benign |
Het |
| Cdc25c |
T |
C |
18: 34,880,348 (GRCm39) |
T129A |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,761,553 (GRCm39) |
D847G |
probably benign |
Het |
| Crim1 |
G |
A |
17: 78,508,228 (GRCm39) |
A11T |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,832,082 (GRCm39) |
L1449H |
possibly damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,736 (GRCm39) |
K276* |
probably null |
Het |
| Cyp2c50 |
C |
A |
19: 40,099,859 (GRCm39) |
T430K |
possibly damaging |
Het |
| Ddb2 |
C |
T |
2: 91,064,595 (GRCm39) |
R105Q |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,077,543 (GRCm39) |
Y900H |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,914,001 (GRCm39) |
F100L |
probably damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,940,970 (GRCm39) |
G542D |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,843 (GRCm39) |
|
probably null |
Het |
| Gm21886 |
T |
C |
18: 80,132,954 (GRCm39) |
Y68C |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,784,492 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,382,320 (GRCm39) |
T211A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,872,778 (GRCm39) |
D16G |
unknown |
Het |
| Isg20l2 |
T |
A |
3: 87,839,392 (GRCm39) |
M201K |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,314,822 (GRCm39) |
S405R |
probably damaging |
Het |
| Kdsr |
T |
A |
1: 106,680,956 (GRCm39) |
I81F |
probably benign |
Het |
| Leprotl1 |
T |
G |
8: 34,607,986 (GRCm39) |
L7F |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,700,373 (GRCm39) |
I60K |
probably damaging |
Het |
| Mto1 |
A |
G |
9: 78,372,245 (GRCm39) |
T572A |
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,332,396 (GRCm39) |
T2287I |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,422 (GRCm39) |
T40A |
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,746,438 (GRCm39) |
S550P |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,859 (GRCm39) |
N286I |
probably damaging |
Het |
| Phactr1 |
G |
A |
13: 43,210,756 (GRCm39) |
V193I |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,248,257 (GRCm39) |
Y317F |
possibly damaging |
Het |
| Pih1d1 |
T |
C |
7: 44,809,250 (GRCm39) |
|
probably null |
Het |
| Rictor |
T |
C |
15: 6,797,571 (GRCm39) |
I309T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,391 (GRCm39) |
D216G |
probably damaging |
Het |
| Slc20a2 |
T |
G |
8: 23,028,846 (GRCm39) |
S106A |
possibly damaging |
Het |
| Srprb |
A |
G |
9: 103,069,406 (GRCm39) |
|
probably benign |
Het |
| Stx11 |
A |
T |
10: 12,817,580 (GRCm39) |
I48N |
probably damaging |
Het |
| Vmn1r29 |
A |
T |
6: 58,285,003 (GRCm39) |
Y241F |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,192 (GRCm39) |
C347* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,785,956 (GRCm39) |
V361A |
possibly damaging |
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 |
|
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 |
|
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'- GGGCCTATGAATGCATGGAAGCAC -3'
(R):5'- GGATTAACAGCATCATCTCCTGGCG -3'
Sequencing Primer
(F):5'- CTGGAGCCATAATACAGGTTCTC -3'
(R):5'- GGCGAATTCTTGTTAATTATAGCTCC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation