Incidental Mutation 'R6896:Adam39'
ID |
538340 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam39
|
Ensembl Gene |
ENSMUSG00000054033 |
Gene Name |
a disintegrin and metallopeptidase domain 39 |
Synonyms |
1700056P18Rik, testase 9 |
MMRRC Submission |
044990-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6896 (G1)
|
Quality Score |
200.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
41276046-41279898 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41277975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 122
(N122I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066814]
|
AlphaFold |
Q7M762 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066814
AA Change: N122I
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000065783 Gene: ENSMUSG00000054033 AA Change: N122I
Domain | Start | End | E-Value | Type |
Pfam:Pep_M12B_propep
|
53 |
178 |
1.3e-19 |
PFAM |
Pfam:Reprolysin_5
|
219 |
398 |
2.2e-18 |
PFAM |
Pfam:Reprolysin_4
|
219 |
406 |
6.8e-16 |
PFAM |
Pfam:Reprolysin
|
221 |
410 |
1.3e-43 |
PFAM |
Pfam:Reprolysin_2
|
238 |
399 |
2.6e-12 |
PFAM |
Pfam:Reprolysin_3
|
246 |
366 |
1.2e-17 |
PFAM |
DISIN
|
428 |
503 |
3.97e-37 |
SMART |
ACR
|
504 |
640 |
8.95e-74 |
SMART |
transmembrane domain
|
702 |
724 |
N/A |
INTRINSIC |
low complexity region
|
734 |
745 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
T |
C |
6: 58,660,298 (GRCm39) |
L454P |
probably damaging |
Het |
Acadm |
T |
C |
3: 153,641,957 (GRCm39) |
I192V |
probably damaging |
Het |
Acadsb |
T |
A |
7: 131,045,375 (GRCm39) |
Y436N |
probably benign |
Het |
Ache |
G |
A |
5: 137,289,996 (GRCm39) |
V442M |
probably damaging |
Het |
Akap6 |
A |
T |
12: 52,934,277 (GRCm39) |
I590F |
probably benign |
Het |
Akap8 |
T |
C |
17: 32,536,305 (GRCm39) |
N36S |
probably benign |
Het |
Asap2 |
T |
C |
12: 21,315,526 (GRCm39) |
S933P |
probably damaging |
Het |
C3 |
C |
T |
17: 57,527,864 (GRCm39) |
|
probably null |
Het |
Cdon |
T |
A |
9: 35,363,402 (GRCm39) |
M1K |
probably null |
Het |
Cemip |
T |
A |
7: 83,647,784 (GRCm39) |
I99F |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,416,421 (GRCm39) |
T565A |
possibly damaging |
Het |
Cfap58 |
T |
G |
19: 47,932,626 (GRCm39) |
L130R |
probably damaging |
Het |
Clca3a2 |
T |
C |
3: 144,514,462 (GRCm39) |
D415G |
probably damaging |
Het |
Coch |
A |
G |
12: 51,649,652 (GRCm39) |
D321G |
possibly damaging |
Het |
Dync2i1 |
C |
T |
12: 116,193,291 (GRCm39) |
G554R |
possibly damaging |
Het |
Efcab11 |
A |
G |
12: 99,849,674 (GRCm39) |
|
probably benign |
Het |
Ermap |
G |
T |
4: 119,044,328 (GRCm39) |
S156* |
probably null |
Het |
Fap |
G |
T |
2: 62,334,944 (GRCm39) |
Y620* |
probably null |
Het |
Galntl5 |
T |
C |
5: 25,394,947 (GRCm39) |
|
probably null |
Het |
Il21r |
C |
A |
7: 125,226,128 (GRCm39) |
H76N |
probably damaging |
Het |
Itpr1 |
T |
G |
6: 108,458,355 (GRCm39) |
Y2041D |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,029,357 (GRCm39) |
N300K |
probably benign |
Het |
Muc2 |
G |
A |
7: 141,306,432 (GRCm39) |
V285I |
possibly damaging |
Het |
Myh15 |
A |
T |
16: 48,933,434 (GRCm39) |
Q623L |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,464,488 (GRCm39) |
|
probably null |
Het |
Naaladl1 |
T |
A |
19: 6,159,335 (GRCm39) |
|
probably null |
Het |
Nlrp9b |
T |
G |
7: 19,757,170 (GRCm39) |
F136V |
probably damaging |
Het |
Oprd1 |
A |
T |
4: 131,844,612 (GRCm39) |
M132K |
probably damaging |
Het |
Or10a3b |
T |
C |
7: 108,444,750 (GRCm39) |
T156A |
probably benign |
Het |
Or4s2b |
A |
G |
2: 88,508,340 (GRCm39) |
N47S |
probably damaging |
Het |
Or6c70 |
A |
T |
10: 129,710,623 (GRCm39) |
M1K |
probably null |
Het |
Or9g4 |
A |
G |
2: 85,505,277 (GRCm39) |
Y73H |
probably damaging |
Het |
Patj |
T |
A |
4: 98,314,287 (GRCm39) |
V369D |
possibly damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,265 (GRCm39) |
L77P |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,298,759 (GRCm39) |
D1259G |
probably damaging |
Het |
Pdcl |
A |
T |
2: 37,242,191 (GRCm39) |
H186Q |
probably damaging |
Het |
Pdzd9 |
A |
T |
7: 120,262,095 (GRCm39) |
*77R |
probably null |
Het |
Reln |
C |
T |
5: 22,104,177 (GRCm39) |
E3265K |
probably benign |
Het |
Smg8 |
T |
C |
11: 86,968,787 (GRCm39) |
T990A |
possibly damaging |
Het |
Smok2a |
C |
T |
17: 13,444,758 (GRCm39) |
H112Y |
probably benign |
Het |
Spatc1l |
G |
A |
10: 76,405,242 (GRCm39) |
R208H |
probably damaging |
Het |
Taf7 |
T |
C |
18: 37,775,733 (GRCm39) |
D278G |
possibly damaging |
Het |
Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
Vmn2r78 |
C |
T |
7: 86,571,558 (GRCm39) |
T456I |
probably benign |
Het |
Vwf |
T |
C |
6: 125,543,157 (GRCm39) |
S148P |
probably damaging |
Het |
Xpot |
A |
C |
10: 121,449,390 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
T |
1: 63,348,031 (GRCm39) |
R2137W |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,009,544 (GRCm39) |
N503K |
possibly damaging |
Het |
Zfp641 |
T |
A |
15: 98,191,684 (GRCm39) |
M1L |
probably benign |
Het |
|
Other mutations in Adam39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Adam39
|
APN |
8 |
41,279,783 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01350:Adam39
|
APN |
8 |
41,278,876 (GRCm39) |
nonsense |
probably null |
|
IGL02237:Adam39
|
APN |
8 |
41,278,482 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02688:Adam39
|
APN |
8 |
41,279,357 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02890:Adam39
|
APN |
8 |
41,278,190 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03071:Adam39
|
APN |
8 |
41,278,104 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03145:Adam39
|
APN |
8 |
41,277,695 (GRCm39) |
missense |
probably benign |
0.00 |
R0083:Adam39
|
UTSW |
8 |
41,278,115 (GRCm39) |
missense |
probably damaging |
0.98 |
R0086:Adam39
|
UTSW |
8 |
41,279,397 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0546:Adam39
|
UTSW |
8 |
41,279,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R0548:Adam39
|
UTSW |
8 |
41,279,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R1489:Adam39
|
UTSW |
8 |
41,278,031 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1643:Adam39
|
UTSW |
8 |
41,279,523 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1756:Adam39
|
UTSW |
8 |
41,278,361 (GRCm39) |
missense |
probably damaging |
0.99 |
R2081:Adam39
|
UTSW |
8 |
41,279,879 (GRCm39) |
makesense |
probably null |
|
R4510:Adam39
|
UTSW |
8 |
41,279,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Adam39
|
UTSW |
8 |
41,279,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R4612:Adam39
|
UTSW |
8 |
41,278,958 (GRCm39) |
missense |
probably damaging |
0.96 |
R4673:Adam39
|
UTSW |
8 |
41,277,768 (GRCm39) |
missense |
probably benign |
0.37 |
R4704:Adam39
|
UTSW |
8 |
41,278,833 (GRCm39) |
missense |
probably benign |
|
R4978:Adam39
|
UTSW |
8 |
41,278,374 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5116:Adam39
|
UTSW |
8 |
41,278,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R5269:Adam39
|
UTSW |
8 |
41,279,018 (GRCm39) |
missense |
probably benign |
0.01 |
R5710:Adam39
|
UTSW |
8 |
41,277,684 (GRCm39) |
missense |
probably benign |
0.05 |
R5971:Adam39
|
UTSW |
8 |
41,277,630 (GRCm39) |
missense |
probably benign |
0.01 |
R6067:Adam39
|
UTSW |
8 |
41,277,630 (GRCm39) |
missense |
probably benign |
0.01 |
R6078:Adam39
|
UTSW |
8 |
41,277,630 (GRCm39) |
missense |
probably benign |
0.01 |
R6180:Adam39
|
UTSW |
8 |
41,279,610 (GRCm39) |
missense |
probably benign |
0.03 |
R6358:Adam39
|
UTSW |
8 |
41,279,718 (GRCm39) |
missense |
probably benign |
0.16 |
R6699:Adam39
|
UTSW |
8 |
41,279,694 (GRCm39) |
missense |
probably benign |
0.01 |
R7117:Adam39
|
UTSW |
8 |
41,279,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R7186:Adam39
|
UTSW |
8 |
41,279,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7195:Adam39
|
UTSW |
8 |
41,277,812 (GRCm39) |
nonsense |
probably null |
|
R7381:Adam39
|
UTSW |
8 |
41,279,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7405:Adam39
|
UTSW |
8 |
41,277,659 (GRCm39) |
missense |
probably benign |
0.01 |
R8068:Adam39
|
UTSW |
8 |
41,278,975 (GRCm39) |
missense |
not run |
|
R8205:Adam39
|
UTSW |
8 |
41,278,080 (GRCm39) |
missense |
probably benign |
0.06 |
R8239:Adam39
|
UTSW |
8 |
41,278,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R8792:Adam39
|
UTSW |
8 |
41,279,613 (GRCm39) |
missense |
probably benign |
|
R8978:Adam39
|
UTSW |
8 |
41,278,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R9472:Adam39
|
UTSW |
8 |
41,279,351 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9562:Adam39
|
UTSW |
8 |
41,277,755 (GRCm39) |
missense |
probably benign |
|
R9565:Adam39
|
UTSW |
8 |
41,277,755 (GRCm39) |
missense |
probably benign |
|
R9570:Adam39
|
UTSW |
8 |
41,277,687 (GRCm39) |
missense |
probably benign |
0.09 |
R9593:Adam39
|
UTSW |
8 |
41,279,744 (GRCm39) |
missense |
possibly damaging |
0.68 |
U15987:Adam39
|
UTSW |
8 |
41,277,630 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Adam39
|
UTSW |
8 |
41,278,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCCCAGAAGTAGTGATACCC -3'
(R):5'- TGTCAATGCACATCTCATGGGG -3'
Sequencing Primer
(F):5'- CCAGAAGTAGTGATACCCTTACGG -3'
(R):5'- GCACATCTCATGGGGTATAATTCTG -3'
|
Posted On |
2018-11-06 |