Incidental Mutation 'R5710:Adam39'
ID |
452169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam39
|
Ensembl Gene |
ENSMUSG00000054033 |
Gene Name |
a disintegrin and metallopeptidase domain 39 |
Synonyms |
1700056P18Rik, testase 9 |
MMRRC Submission |
044396-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R5710 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
41276046-41279898 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41277684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 25
(Y25F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066814]
|
AlphaFold |
Q7M762 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066814
AA Change: Y25F
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000065783 Gene: ENSMUSG00000054033 AA Change: Y25F
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
G |
A |
14: 68,847,357 (GRCm39) |
H713Y |
probably damaging |
Het |
Ankfn1 |
T |
C |
11: 89,394,751 (GRCm39) |
N278S |
probably benign |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgap18 |
G |
A |
10: 26,736,729 (GRCm39) |
|
probably null |
Het |
Bcl2a1b |
A |
C |
9: 89,081,732 (GRCm39) |
Q107P |
probably benign |
Het |
Btbd9 |
A |
G |
17: 30,447,842 (GRCm39) |
S525P |
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,482,852 (GRCm39) |
S2093P |
probably benign |
Het |
Ccnd1 |
T |
C |
7: 144,491,781 (GRCm39) |
D86G |
possibly damaging |
Het |
Chdh |
C |
A |
14: 29,756,584 (GRCm39) |
Q337K |
probably damaging |
Het |
Cldn9 |
T |
C |
17: 23,902,421 (GRCm39) |
D68G |
probably damaging |
Het |
Cpt1b |
T |
A |
15: 89,309,409 (GRCm39) |
K41N |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,405,408 (GRCm39) |
Y274H |
probably benign |
Het |
Eif2ak3 |
T |
A |
6: 70,860,717 (GRCm39) |
I431N |
probably damaging |
Het |
Erbb2 |
T |
A |
11: 98,317,906 (GRCm39) |
W416R |
probably damaging |
Het |
Fgd3 |
T |
A |
13: 49,450,205 (GRCm39) |
I15F |
probably benign |
Het |
Fkbp14 |
T |
A |
6: 54,566,255 (GRCm39) |
|
probably null |
Het |
Havcr1 |
T |
C |
11: 46,643,353 (GRCm39) |
V91A |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,751,987 (GRCm39) |
|
probably benign |
Het |
Lipc |
T |
A |
9: 70,719,979 (GRCm39) |
I343F |
probably benign |
Het |
Madd |
T |
C |
2: 90,984,821 (GRCm39) |
T1331A |
probably damaging |
Het |
Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
Mdga2 |
C |
A |
12: 66,553,556 (GRCm39) |
L98F |
probably damaging |
Het |
Micall1 |
C |
A |
15: 79,011,290 (GRCm39) |
H553Q |
probably damaging |
Het |
Mxd4 |
A |
G |
5: 34,344,671 (GRCm39) |
|
probably null |
Het |
Peg10 |
CC |
CCCCATCAGGC |
6: 4,756,350 (GRCm39) |
|
probably benign |
Het |
Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
Prtg |
T |
A |
9: 72,716,922 (GRCm39) |
Y88N |
probably damaging |
Het |
Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
Sclt1 |
C |
A |
3: 41,618,398 (GRCm39) |
E14* |
probably null |
Het |
Shfl |
G |
T |
9: 20,784,192 (GRCm39) |
R138L |
possibly damaging |
Het |
Strn |
G |
A |
17: 78,995,028 (GRCm39) |
L162F |
probably damaging |
Het |
T |
T |
C |
17: 8,660,474 (GRCm39) |
S221P |
probably benign |
Het |
Tbl1xr1 |
A |
G |
3: 22,264,578 (GRCm39) |
D511G |
probably damaging |
Het |
Ttc7 |
A |
C |
17: 87,597,674 (GRCm39) |
N82T |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,747,786 (GRCm39) |
R4421H |
possibly damaging |
Het |
Uaca |
T |
A |
9: 60,779,093 (GRCm39) |
L1158Q |
probably damaging |
Het |
Vdr |
T |
C |
15: 97,757,008 (GRCm39) |
Y288C |
probably damaging |
Het |
Vdr |
A |
T |
15: 97,765,089 (GRCm39) |
S217T |
probably benign |
Het |
Zhx2 |
T |
A |
15: 57,684,866 (GRCm39) |
Y78* |
probably null |
Het |
Znhit1 |
C |
T |
5: 137,011,456 (GRCm39) |
C119Y |
probably damaging |
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 |
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 |
R6896:Adam39
|
UTSW |
8 |
41,277,975 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- GCCTTTGAACAAACCTCAGC -3'
(R):5'- CAGGCTATAGGTCAGCCATC -3'
Sequencing Primer
(F):5'- AGCCATTTAAGCTCACATCTTG -3'
(R):5'- GGCTATAGGTCAGCCATCCCATAG -3'
|
Posted On |
2017-01-03 |