Incidental Mutation 'R0402:Adam6b'
ID |
35638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam6b
|
Ensembl Gene |
ENSMUSG00000051804 |
Gene Name |
a disintegrin and metallopeptidase domain 6B |
Synonyms |
4930523C11Rik |
MMRRC Submission |
038607-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R0402 (G1)
|
Quality Score |
180 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
113453185-113455455 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113453615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 144
(M144K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063317]
|
AlphaFold |
Q6IMH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063317
AA Change: M144K
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000065529 Gene: ENSMUSG00000051804 AA Change: M144K
Domain | Start | End | E-Value | Type |
Pfam:Pep_M12B_propep
|
30 |
167 |
1.1e-16 |
PFAM |
Pfam:Reprolysin
|
223 |
407 |
1.1e-14 |
PFAM |
DISIN
|
427 |
502 |
9.2e-33 |
SMART |
ACR
|
503 |
640 |
2.74e-60 |
SMART |
transmembrane domain
|
704 |
726 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.0%
- 10x: 94.5%
- 20x: 88.7%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
T |
10: 100,445,115 (GRCm39) |
K165N |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,922,903 (GRCm39) |
|
probably benign |
Het |
Arl5c |
T |
A |
11: 97,885,939 (GRCm39) |
I21F |
probably damaging |
Het |
Bglap2 |
C |
T |
3: 88,285,552 (GRCm39) |
G40D |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,964,940 (GRCm39) |
E1303G |
probably damaging |
Het |
Calhm1 |
T |
C |
19: 47,129,896 (GRCm39) |
T209A |
probably damaging |
Het |
Ccr8 |
A |
G |
9: 119,923,976 (GRCm39) |
|
probably null |
Het |
Chkb |
C |
T |
15: 89,313,610 (GRCm39) |
R65Q |
probably benign |
Het |
Col4a1 |
T |
C |
8: 11,249,838 (GRCm39) |
|
probably benign |
Het |
Cryzl2 |
A |
G |
1: 157,292,014 (GRCm39) |
T98A |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 103,998,509 (GRCm39) |
T1080A |
probably damaging |
Het |
Dhx8 |
C |
A |
11: 101,643,223 (GRCm39) |
T765N |
probably damaging |
Het |
Dicer1 |
T |
C |
12: 104,697,323 (GRCm39) |
D78G |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,316,271 (GRCm39) |
I344V |
probably benign |
Het |
Edil3 |
A |
T |
13: 89,347,570 (GRCm39) |
|
probably benign |
Het |
Fbxw19 |
C |
T |
9: 109,313,493 (GRCm39) |
G235D |
probably benign |
Het |
Fzd1 |
T |
C |
5: 4,805,702 (GRCm39) |
K627E |
possibly damaging |
Het |
Garin1b |
A |
G |
6: 29,323,901 (GRCm39) |
T209A |
probably benign |
Het |
Garin4 |
T |
C |
1: 190,896,637 (GRCm39) |
D2G |
probably benign |
Het |
Gm10638 |
A |
G |
8: 87,472,828 (GRCm39) |
|
probably benign |
Het |
H6pd |
G |
T |
4: 150,080,773 (GRCm39) |
A24E |
probably damaging |
Het |
Hectd2 |
G |
T |
19: 36,578,929 (GRCm39) |
|
probably null |
Het |
Hps5 |
A |
G |
7: 46,440,333 (GRCm39) |
|
probably benign |
Het |
Irx3 |
T |
C |
8: 92,527,296 (GRCm39) |
N136S |
possibly damaging |
Het |
Kcmf1 |
T |
C |
6: 72,826,568 (GRCm39) |
M1V |
probably null |
Het |
Klrb1 |
A |
T |
6: 128,687,583 (GRCm39) |
F104I |
probably benign |
Het |
Lrfn5 |
T |
C |
12: 61,886,803 (GRCm39) |
M197T |
probably benign |
Het |
Mpdz |
A |
C |
4: 81,279,677 (GRCm39) |
M51R |
possibly damaging |
Het |
Mtbp |
G |
T |
15: 55,432,466 (GRCm39) |
E258* |
probably null |
Het |
Mylk3 |
T |
A |
8: 86,079,539 (GRCm39) |
H373L |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,664,882 (GRCm39) |
S383P |
probably damaging |
Het |
Nt5c |
T |
C |
11: 115,381,468 (GRCm39) |
*195W |
probably null |
Het |
Ocstamp |
A |
G |
2: 165,238,184 (GRCm39) |
V360A |
possibly damaging |
Het |
Or10ak16 |
A |
T |
4: 118,750,426 (GRCm39) |
I49F |
possibly damaging |
Het |
Or10al6 |
T |
A |
17: 38,083,284 (GRCm39) |
C247S |
probably damaging |
Het |
Or4k35 |
A |
G |
2: 111,100,208 (GRCm39) |
F168S |
probably damaging |
Het |
Or4p19 |
A |
T |
2: 88,242,378 (GRCm39) |
V208D |
probably damaging |
Het |
Or5an9 |
A |
G |
19: 12,186,953 (GRCm39) |
T8A |
probably damaging |
Het |
Otop2 |
T |
C |
11: 115,217,234 (GRCm39) |
|
probably benign |
Het |
Pom121l2 |
A |
T |
13: 22,172,649 (GRCm39) |
|
probably benign |
Het |
Pon2 |
T |
A |
6: 5,272,410 (GRCm39) |
K137* |
probably null |
Het |
Ppip5k2 |
T |
A |
1: 97,647,579 (GRCm39) |
Q1049L |
probably benign |
Het |
Ralgapa2 |
C |
T |
2: 146,276,729 (GRCm39) |
V504M |
probably damaging |
Het |
Rph3a |
G |
A |
5: 121,080,317 (GRCm39) |
H654Y |
probably damaging |
Het |
Sh2d1b1 |
T |
C |
1: 170,107,342 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
G |
A |
16: 36,595,960 (GRCm39) |
T154I |
probably benign |
Het |
Slc45a3 |
T |
C |
1: 131,905,265 (GRCm39) |
V96A |
possibly damaging |
Het |
Slc7a4 |
A |
G |
16: 17,393,497 (GRCm39) |
S101P |
probably damaging |
Het |
Smco2 |
T |
C |
6: 146,772,633 (GRCm39) |
|
probably benign |
Het |
Spata2 |
A |
T |
2: 167,325,580 (GRCm39) |
V413E |
probably benign |
Het |
Specc1l |
A |
G |
10: 75,082,260 (GRCm39) |
E552G |
probably damaging |
Het |
Sstr5 |
C |
T |
17: 25,711,008 (GRCm39) |
V74M |
probably benign |
Het |
Timm50 |
G |
A |
7: 28,006,280 (GRCm39) |
R274W |
probably damaging |
Het |
Tll2 |
A |
G |
19: 41,087,132 (GRCm39) |
V573A |
possibly damaging |
Het |
Tm7sf3 |
C |
A |
6: 146,507,685 (GRCm39) |
R459M |
possibly damaging |
Het |
Txk |
A |
G |
5: 72,889,105 (GRCm39) |
|
probably null |
Het |
Uroc1 |
A |
G |
6: 90,324,284 (GRCm39) |
D436G |
probably damaging |
Het |
Vmn1r13 |
T |
A |
6: 57,187,083 (GRCm39) |
Y81N |
possibly damaging |
Het |
Vmn2r19 |
A |
G |
6: 123,313,141 (GRCm39) |
E737G |
probably damaging |
Het |
Wfs1 |
A |
G |
5: 37,134,324 (GRCm39) |
|
probably benign |
Het |
Zfp1 |
G |
A |
8: 112,396,875 (GRCm39) |
E285K |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,111,136 (GRCm39) |
C609S |
possibly damaging |
Het |
Zfp661 |
G |
A |
2: 127,419,640 (GRCm39) |
Q167* |
probably null |
Het |
Zswim8 |
T |
C |
14: 20,760,834 (GRCm39) |
F36S |
probably damaging |
Het |
Zw10 |
A |
G |
9: 48,980,023 (GRCm39) |
T385A |
probably benign |
Het |
|
Other mutations in Adam6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Adam6b
|
APN |
12 |
113,455,013 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00800:Adam6b
|
APN |
12 |
113,454,062 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01456:Adam6b
|
APN |
12 |
113,455,083 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02232:Adam6b
|
APN |
12 |
113,454,764 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03039:Adam6b
|
APN |
12 |
113,454,502 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03399:Adam6b
|
APN |
12 |
113,454,728 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03412:Adam6b
|
APN |
12 |
113,455,390 (GRCm39) |
nonsense |
probably null |
|
R0234:Adam6b
|
UTSW |
12 |
113,454,230 (GRCm39) |
missense |
probably damaging |
0.98 |
R0234:Adam6b
|
UTSW |
12 |
113,454,230 (GRCm39) |
missense |
probably damaging |
0.98 |
R0373:Adam6b
|
UTSW |
12 |
113,454,275 (GRCm39) |
missense |
probably benign |
0.15 |
R0420:Adam6b
|
UTSW |
12 |
113,453,614 (GRCm39) |
missense |
probably benign |
0.02 |
R0573:Adam6b
|
UTSW |
12 |
113,455,278 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0884:Adam6b
|
UTSW |
12 |
113,454,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R1489:Adam6b
|
UTSW |
12 |
113,455,071 (GRCm39) |
missense |
probably benign |
0.15 |
R1542:Adam6b
|
UTSW |
12 |
113,454,559 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1591:Adam6b
|
UTSW |
12 |
113,453,452 (GRCm39) |
missense |
probably benign |
0.07 |
R1596:Adam6b
|
UTSW |
12 |
113,454,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R1675:Adam6b
|
UTSW |
12 |
113,454,664 (GRCm39) |
missense |
probably benign |
0.00 |
R1699:Adam6b
|
UTSW |
12 |
113,454,205 (GRCm39) |
missense |
probably benign |
0.02 |
R1818:Adam6b
|
UTSW |
12 |
113,454,876 (GRCm39) |
missense |
probably benign |
0.15 |
R1829:Adam6b
|
UTSW |
12 |
113,453,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Adam6b
|
UTSW |
12 |
113,455,442 (GRCm39) |
missense |
probably benign |
0.44 |
R1955:Adam6b
|
UTSW |
12 |
113,455,436 (GRCm39) |
missense |
probably benign |
0.16 |
R2040:Adam6b
|
UTSW |
12 |
113,454,364 (GRCm39) |
missense |
probably benign |
0.34 |
R3820:Adam6b
|
UTSW |
12 |
113,453,984 (GRCm39) |
missense |
probably benign |
0.38 |
R4112:Adam6b
|
UTSW |
12 |
113,453,256 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4434:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R4435:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R4437:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R4438:Adam6b
|
UTSW |
12 |
113,454,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R4509:Adam6b
|
UTSW |
12 |
113,453,972 (GRCm39) |
missense |
probably benign |
0.02 |
R5034:Adam6b
|
UTSW |
12 |
113,454,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R5316:Adam6b
|
UTSW |
12 |
113,455,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R5330:Adam6b
|
UTSW |
12 |
113,454,200 (GRCm39) |
missense |
possibly damaging |
0.45 |
R5331:Adam6b
|
UTSW |
12 |
113,454,200 (GRCm39) |
missense |
possibly damaging |
0.45 |
R5604:Adam6b
|
UTSW |
12 |
113,454,420 (GRCm39) |
nonsense |
probably null |
|
R5698:Adam6b
|
UTSW |
12 |
113,455,083 (GRCm39) |
missense |
probably benign |
0.30 |
R5877:Adam6b
|
UTSW |
12 |
113,453,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Adam6b
|
UTSW |
12 |
113,455,330 (GRCm39) |
missense |
probably benign |
|
R6254:Adam6b
|
UTSW |
12 |
113,453,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R6371:Adam6b
|
UTSW |
12 |
113,453,894 (GRCm39) |
missense |
probably damaging |
0.99 |
R6617:Adam6b
|
UTSW |
12 |
113,454,152 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6768:Adam6b
|
UTSW |
12 |
113,453,863 (GRCm39) |
missense |
probably benign |
0.01 |
R7002:Adam6b
|
UTSW |
12 |
113,453,327 (GRCm39) |
nonsense |
probably null |
|
R7003:Adam6b
|
UTSW |
12 |
113,453,662 (GRCm39) |
nonsense |
probably null |
|
R7049:Adam6b
|
UTSW |
12 |
113,454,122 (GRCm39) |
missense |
probably damaging |
0.99 |
R7313:Adam6b
|
UTSW |
12 |
113,454,754 (GRCm39) |
missense |
probably benign |
0.00 |
R7372:Adam6b
|
UTSW |
12 |
113,453,784 (GRCm39) |
missense |
probably benign |
0.24 |
R7684:Adam6b
|
UTSW |
12 |
113,455,196 (GRCm39) |
nonsense |
probably null |
|
R7777:Adam6b
|
UTSW |
12 |
113,453,758 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7781:Adam6b
|
UTSW |
12 |
113,454,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R7857:Adam6b
|
UTSW |
12 |
113,454,104 (GRCm39) |
missense |
probably benign |
0.09 |
R8196:Adam6b
|
UTSW |
12 |
113,454,087 (GRCm39) |
missense |
probably benign |
0.19 |
R8423:Adam6b
|
UTSW |
12 |
113,454,530 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8680:Adam6b
|
UTSW |
12 |
113,454,371 (GRCm39) |
missense |
probably benign |
0.05 |
R8762:Adam6b
|
UTSW |
12 |
113,453,227 (GRCm39) |
missense |
probably damaging |
0.98 |
R8792:Adam6b
|
UTSW |
12 |
113,455,310 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8806:Adam6b
|
UTSW |
12 |
113,455,418 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8880:Adam6b
|
UTSW |
12 |
113,454,764 (GRCm39) |
missense |
probably benign |
|
R8977:Adam6b
|
UTSW |
12 |
113,453,996 (GRCm39) |
missense |
probably benign |
0.02 |
R8987:Adam6b
|
UTSW |
12 |
113,454,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R9101:Adam6b
|
UTSW |
12 |
113,455,376 (GRCm39) |
missense |
probably benign |
0.22 |
R9103:Adam6b
|
UTSW |
12 |
113,454,558 (GRCm39) |
nonsense |
probably null |
|
R9334:Adam6b
|
UTSW |
12 |
113,454,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R9641:Adam6b
|
UTSW |
12 |
113,454,176 (GRCm39) |
missense |
probably benign |
|
R9683:Adam6b
|
UTSW |
12 |
113,454,176 (GRCm39) |
missense |
probably benign |
|
R9796:Adam6b
|
UTSW |
12 |
113,454,272 (GRCm39) |
missense |
probably damaging |
1.00 |
RF012:Adam6b
|
UTSW |
12 |
113,453,552 (GRCm39) |
missense |
probably damaging |
1.00 |
RF022:Adam6b
|
UTSW |
12 |
113,455,289 (GRCm39) |
missense |
possibly damaging |
0.90 |
T0722:Adam6b
|
UTSW |
12 |
113,454,888 (GRCm39) |
missense |
probably benign |
0.11 |
T0722:Adam6b
|
UTSW |
12 |
113,453,197 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCATCCTACTTGGCGTTACATC -3'
(R):5'- TTCCAATCTGGAGGAGGGAGAACC -3'
Sequencing Primer
(F):5'- GTTATTCCTCGGAAGGAGATCTACC -3'
(R):5'- GAGAACCTGTATTATGGCTCCAG -3'
|
Posted On |
2013-05-09 |