Incidental Mutation 'R5504:Adam34l'
| ID |
430830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34l
|
| Ensembl Gene |
ENSMUSG00000050190 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 like |
| Synonyms |
Gm5346 |
| MMRRC Submission |
043065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
44077988-44080313 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44078319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 635
(C635Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
| AlphaFold |
Q7M766 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056023
AA Change: C635Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: C635Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
159 |
1.3e-18 |
PFAM |
|
Pfam:Reprolysin_5
|
205 |
384 |
1.1e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
205 |
393 |
6.2e-9 |
PFAM |
|
Pfam:Reprolysin
|
207 |
397 |
1.7e-46 |
PFAM |
|
Pfam:Reprolysin_2
|
223 |
389 |
5.7e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
231 |
352 |
2.6e-13 |
PFAM |
|
DISIN
|
416 |
491 |
2.48e-38 |
SMART |
|
ACR
|
492 |
628 |
3.4e-65 |
SMART |
|
EGF
|
634 |
664 |
2.69e1 |
SMART |
|
transmembrane domain
|
685 |
707 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b7 |
A |
G |
6: 34,396,453 (GRCm39) |
|
probably null |
Het |
| Amy2a1 |
T |
G |
3: 113,325,318 (GRCm39) |
D92A |
probably benign |
Het |
| Angel2 |
A |
G |
1: 190,676,083 (GRCm39) |
T455A |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,119,050 (GRCm39) |
|
probably benign |
Het |
| Ankrd40 |
A |
G |
11: 94,219,153 (GRCm39) |
E25G |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,746 (GRCm39) |
D136V |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,545,350 (GRCm39) |
I336V |
possibly damaging |
Het |
| Birc6 |
C |
T |
17: 74,962,208 (GRCm39) |
P58S |
probably damaging |
Het |
| Bsx |
A |
T |
9: 40,785,460 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,488,843 (GRCm39) |
L1965P |
probably benign |
Het |
| Capza3 |
A |
T |
6: 139,988,165 (GRCm39) |
I255L |
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,575,192 (GRCm39) |
A499E |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,629,558 (GRCm39) |
S749T |
probably benign |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Colgalt2 |
G |
A |
1: 152,276,054 (GRCm39) |
V56M |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 139,018,246 (GRCm39) |
T197S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,914,278 (GRCm39) |
Y1000H |
probably benign |
Het |
| Dlg2 |
C |
T |
7: 92,091,865 (GRCm39) |
A910V |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
C |
14: 68,040,535 (GRCm39) |
D884G |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,712,846 (GRCm39) |
S198P |
probably benign |
Het |
| Gabpa |
T |
C |
16: 84,649,446 (GRCm39) |
S218P |
probably benign |
Het |
| Gm17654 |
A |
T |
14: 43,815,494 (GRCm39) |
N104K |
unknown |
Het |
| Gm4775 |
T |
C |
14: 106,338,389 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin3 |
T |
A |
7: 106,201,951 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr1 |
T |
A |
13: 12,421,500 (GRCm39) |
S467T |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,515,487 (GRCm39) |
M215T |
probably benign |
Het |
| Hmgn2 |
A |
T |
4: 133,694,114 (GRCm39) |
|
probably benign |
Het |
| Kncn |
T |
A |
4: 115,742,062 (GRCm39) |
I43N |
possibly damaging |
Het |
| Lgals3bp |
G |
T |
11: 118,284,811 (GRCm39) |
T256N |
probably benign |
Het |
| Mpi |
T |
C |
9: 57,452,500 (GRCm39) |
D344G |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,178,879 (GRCm39) |
E1304K |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,481,564 (GRCm39) |
F1091I |
probably benign |
Het |
| Nrcam |
T |
G |
12: 44,610,915 (GRCm39) |
|
probably null |
Het |
| Or2a7 |
T |
A |
6: 43,151,572 (GRCm39) |
Y217* |
probably null |
Het |
| Or4c114 |
C |
T |
2: 88,905,024 (GRCm39) |
R137Q |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,383 (GRCm39) |
K169E |
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,675,615 (GRCm39) |
S1044P |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,621,222 (GRCm39) |
L1014S |
probably damaging |
Het |
| Pear1 |
G |
A |
3: 87,660,002 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
T |
A |
14: 70,627,348 (GRCm39) |
Y797F |
probably benign |
Het |
| Ppp2r1b |
T |
G |
9: 50,770,187 (GRCm39) |
L81R |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,052,800 (GRCm39) |
H812Q |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,510,357 (GRCm39) |
F33I |
probably damaging |
Het |
| Rgs13 |
A |
T |
1: 144,015,358 (GRCm39) |
C120S |
possibly damaging |
Het |
| Rp1 |
G |
A |
1: 4,420,113 (GRCm39) |
T333M |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,499,941 (GRCm39) |
V339E |
probably damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,862 (GRCm39) |
Y256N |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,150,743 (GRCm39) |
M65K |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,064 (GRCm39) |
K45R |
probably damaging |
Het |
| Src |
T |
C |
2: 157,306,641 (GRCm39) |
Y215H |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,086,750 (GRCm39) |
V384A |
possibly damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,650,396 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,456 (GRCm39) |
D278G |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,486,176 (GRCm39) |
K371E |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,341 (GRCm39) |
H426Q |
probably benign |
Het |
|
| Other mutations in Adam34l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Adam34l
|
APN |
8 |
44,078,418 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00391:Adam34l
|
APN |
8 |
44,078,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00422:Adam34l
|
APN |
8 |
44,079,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00664:Adam34l
|
APN |
8 |
44,079,006 (GRCm39) |
missense |
probably benign |
|
|
IGL01095:Adam34l
|
APN |
8 |
44,079,133 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01113:Adam34l
|
APN |
8 |
44,079,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01444:Adam34l
|
APN |
8 |
44,079,470 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01782:Adam34l
|
APN |
8 |
44,079,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01921:Adam34l
|
APN |
8 |
44,078,548 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01964:Adam34l
|
APN |
8 |
44,079,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02139:Adam34l
|
APN |
8 |
44,078,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02555:Adam34l
|
APN |
8 |
44,078,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Adam34l
|
APN |
8 |
44,080,125 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0056:Adam34l
|
UTSW |
8 |
44,078,540 (GRCm39) |
nonsense |
probably null |
|
|
R0218:Adam34l
|
UTSW |
8 |
44,079,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0530:Adam34l
|
UTSW |
8 |
44,079,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0925:Adam34l
|
UTSW |
8 |
44,079,340 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0927:Adam34l
|
UTSW |
8 |
44,078,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Adam34l
|
UTSW |
8 |
44,078,155 (GRCm39) |
missense |
probably benign |
|
|
R1300:Adam34l
|
UTSW |
8 |
44,079,881 (GRCm39) |
nonsense |
probably null |
|
|
R1728:Adam34l
|
UTSW |
8 |
44,078,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Adam34l
|
UTSW |
8 |
44,078,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Adam34l
|
UTSW |
8 |
44,078,954 (GRCm39) |
nonsense |
probably null |
|
|
R1869:Adam34l
|
UTSW |
8 |
44,078,132 (GRCm39) |
nonsense |
probably null |
|
|
R1870:Adam34l
|
UTSW |
8 |
44,078,132 (GRCm39) |
nonsense |
probably null |
|
|
R1871:Adam34l
|
UTSW |
8 |
44,078,132 (GRCm39) |
nonsense |
probably null |
|
|
R1992:Adam34l
|
UTSW |
8 |
44,080,176 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2008:Adam34l
|
UTSW |
8 |
44,080,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2013:Adam34l
|
UTSW |
8 |
44,079,442 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2022:Adam34l
|
UTSW |
8 |
44,078,954 (GRCm39) |
nonsense |
probably null |
|
|
R2175:Adam34l
|
UTSW |
8 |
44,078,475 (GRCm39) |
missense |
probably benign |
|
|
R2875:Adam34l
|
UTSW |
8 |
44,080,177 (GRCm39) |
nonsense |
probably null |
|
|
R3406:Adam34l
|
UTSW |
8 |
44,079,089 (GRCm39) |
nonsense |
probably null |
|
|
R3845:Adam34l
|
UTSW |
8 |
44,079,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4033:Adam34l
|
UTSW |
8 |
44,079,710 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4072:Adam34l
|
UTSW |
8 |
44,079,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Adam34l
|
UTSW |
8 |
44,079,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4075:Adam34l
|
UTSW |
8 |
44,079,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4076:Adam34l
|
UTSW |
8 |
44,079,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Adam34l
|
UTSW |
8 |
44,079,564 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4330:Adam34l
|
UTSW |
8 |
44,079,287 (GRCm39) |
missense |
probably benign |
|
|
R4612:Adam34l
|
UTSW |
8 |
44,079,587 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4662:Adam34l
|
UTSW |
8 |
44,080,116 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5032:Adam34l
|
UTSW |
8 |
44,079,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Adam34l
|
UTSW |
8 |
44,080,200 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5697:Adam34l
|
UTSW |
8 |
44,079,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Adam34l
|
UTSW |
8 |
44,078,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6233:Adam34l
|
UTSW |
8 |
44,078,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6234:Adam34l
|
UTSW |
8 |
44,078,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6235:Adam34l
|
UTSW |
8 |
44,078,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6241:Adam34l
|
UTSW |
8 |
44,079,133 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6392:Adam34l
|
UTSW |
8 |
44,079,038 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6439:Adam34l
|
UTSW |
8 |
44,078,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6454:Adam34l
|
UTSW |
8 |
44,079,845 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6455:Adam34l
|
UTSW |
8 |
44,079,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Adam34l
|
UTSW |
8 |
44,079,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6774:Adam34l
|
UTSW |
8 |
44,078,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6877:Adam34l
|
UTSW |
8 |
44,078,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6911:Adam34l
|
UTSW |
8 |
44,078,146 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7211:Adam34l
|
UTSW |
8 |
44,078,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7597:Adam34l
|
UTSW |
8 |
44,078,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Adam34l
|
UTSW |
8 |
44,079,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7797:Adam34l
|
UTSW |
8 |
44,079,411 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7981:Adam34l
|
UTSW |
8 |
44,078,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Adam34l
|
UTSW |
8 |
44,078,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8215:Adam34l
|
UTSW |
8 |
44,079,538 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9180:Adam34l
|
UTSW |
8 |
44,079,970 (GRCm39) |
nonsense |
probably null |
|
|
R9307:Adam34l
|
UTSW |
8 |
44,079,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9733:Adam34l
|
UTSW |
8 |
44,079,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
RF001:Adam34l
|
UTSW |
8 |
44,079,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1177:Adam34l
|
UTSW |
8 |
44,079,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAGGAAGTACATACTCCAATTGG -3'
(R):5'- GTACTCTGTGGGCGAATTCAG -3'
Sequencing Primer
(F):5'- TCCAATTGGAAGGAGATAAAGGCAC -3'
(R):5'- GTGTGAGAATGTGATAAAACTTCCCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation