Incidental Mutation 'R5116:Adam39'
ID |
394196 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam39
|
Ensembl Gene |
ENSMUSG00000054033 |
Gene Name |
a disintegrin and metallopeptidase domain 39 |
Synonyms |
1700056P18Rik, testase 9 |
MMRRC Submission |
042704-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R5116 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
41276046-41279898 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 41278038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 143
(C143F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066814]
|
AlphaFold |
Q7M762 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066814
AA Change: C143F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065783 Gene: ENSMUSG00000054033 AA Change: C143F
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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.5%
|
Validation Efficiency |
97% (59/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,216,930 (GRCm39) |
H429R |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,036,066 (GRCm39) |
V417A |
possibly damaging |
Het |
Adcy10 |
C |
A |
1: 165,347,069 (GRCm39) |
A362E |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,188,298 (GRCm39) |
E1904G |
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,541,949 (GRCm39) |
M89T |
probably benign |
Het |
Alyref |
G |
T |
11: 120,488,554 (GRCm39) |
F91L |
probably benign |
Het |
Capn3 |
G |
T |
2: 120,315,773 (GRCm39) |
M248I |
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,953,991 (GRCm39) |
I56N |
probably damaging |
Het |
Cckbr |
T |
A |
7: 105,082,862 (GRCm39) |
I75N |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,923,095 (GRCm39) |
I70T |
probably benign |
Het |
Cdh24 |
T |
C |
14: 54,873,870 (GRCm39) |
D428G |
probably benign |
Het |
Cdk5rap2 |
G |
T |
4: 70,225,475 (GRCm39) |
Q557K |
possibly damaging |
Het |
Clip1 |
C |
T |
5: 123,768,770 (GRCm39) |
A610T |
probably benign |
Het |
Dnajc16 |
A |
T |
4: 141,495,280 (GRCm39) |
Y479* |
probably null |
Het |
Fpr-rs3 |
A |
G |
17: 20,844,562 (GRCm39) |
V193A |
probably benign |
Het |
Gm29125 |
T |
C |
1: 80,361,690 (GRCm39) |
|
noncoding transcript |
Het |
H1f4 |
A |
G |
13: 23,806,270 (GRCm39) |
Y71H |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,505,549 (GRCm39) |
|
probably benign |
Het |
Immp1l |
G |
A |
2: 105,795,640 (GRCm39) |
R155H |
probably benign |
Het |
Itgad |
C |
A |
7: 127,803,065 (GRCm39) |
T7K |
probably damaging |
Het |
Itgb3 |
T |
C |
11: 104,531,903 (GRCm39) |
V370A |
probably benign |
Het |
Jak1 |
A |
G |
4: 101,012,310 (GRCm39) |
I1053T |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,080,521 (GRCm39) |
R572G |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,994,556 (GRCm39) |
D1784E |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,856,511 (GRCm39) |
V651D |
probably damaging |
Het |
Mrpl47 |
A |
G |
3: 32,787,750 (GRCm39) |
L100S |
probably damaging |
Het |
Mx1 |
T |
G |
16: 97,258,679 (GRCm39) |
N6T |
possibly damaging |
Het |
Nde1 |
T |
A |
16: 14,001,351 (GRCm39) |
M133K |
probably benign |
Het |
Nlrc5 |
T |
C |
8: 95,208,488 (GRCm39) |
L778P |
probably damaging |
Het |
Odad3 |
A |
G |
9: 21,901,424 (GRCm39) |
*595Q |
probably null |
Het |
Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
Or5l13 |
G |
A |
2: 87,779,873 (GRCm39) |
R235C |
probably benign |
Het |
Or6c3b |
A |
G |
10: 129,527,266 (GRCm39) |
S215P |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,094 (GRCm39) |
S151P |
possibly damaging |
Het |
Or8b38 |
T |
C |
9: 37,972,634 (GRCm39) |
V6A |
probably benign |
Het |
Otog |
T |
C |
7: 45,923,191 (GRCm39) |
V1022A |
probably benign |
Het |
Pcdhac1 |
G |
A |
18: 37,224,500 (GRCm39) |
V438M |
probably damaging |
Het |
Pcsk5 |
G |
A |
19: 17,440,798 (GRCm39) |
S1264F |
possibly damaging |
Het |
Pfas |
T |
C |
11: 68,881,816 (GRCm39) |
|
probably benign |
Het |
Pigr |
T |
A |
1: 130,776,768 (GRCm39) |
F648I |
probably benign |
Het |
Pla2r1 |
A |
C |
2: 60,279,250 (GRCm39) |
Y777D |
probably damaging |
Het |
Pnpla7 |
G |
T |
2: 24,911,982 (GRCm39) |
G716V |
probably damaging |
Het |
Rab11fip5 |
C |
T |
6: 85,325,789 (GRCm39) |
E206K |
probably damaging |
Het |
S100a10 |
A |
G |
3: 93,468,247 (GRCm39) |
|
probably null |
Het |
Slc35f1 |
T |
C |
10: 52,897,991 (GRCm39) |
I134T |
probably benign |
Het |
Smarcd1 |
C |
T |
15: 99,600,369 (GRCm39) |
A56V |
probably benign |
Het |
Snrk |
A |
G |
9: 121,989,396 (GRCm39) |
T247A |
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,628,284 (GRCm39) |
L896P |
possibly damaging |
Het |
Tmem19 |
A |
T |
10: 115,179,651 (GRCm39) |
F167I |
probably benign |
Het |
Tmprss11f |
T |
C |
5: 86,687,555 (GRCm39) |
S118G |
probably benign |
Het |
Tnc |
A |
G |
4: 63,885,452 (GRCm39) |
|
probably null |
Het |
Trem3 |
T |
C |
17: 48,556,580 (GRCm39) |
L17P |
probably benign |
Het |
Upp2 |
A |
G |
2: 58,661,554 (GRCm39) |
Y67C |
probably damaging |
Het |
Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
Zfp932 |
T |
A |
5: 110,157,242 (GRCm39) |
D280E |
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 |
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 |
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'- CCTATAGCCTGCATTTTGGGG -3'
(R):5'- TGCATCAGAGTGGGGTTCTC -3'
Sequencing Primer
(F):5'- GGGGGCCAGAAACATTTTATTCAC -3'
(R):5'- CATCAGAGTGGGGTTCTCATTCTG -3'
|
Posted On |
2016-06-15 |