Incidental Mutation 'IGL02951:Adam34l'
| ID |
365970 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam34l
|
| Ensembl Gene |
ENSMUSG00000050190 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 like |
| Synonyms |
Gm5346 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL02951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
44077988-44080313 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 44080125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 33
(H33P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
| AlphaFold |
Q7M766 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056023
AA Change: H33P
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: H33P
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
A |
10: 76,290,536 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,868 (GRCm39) |
T291I |
probably benign |
Het |
| Atp13a3 |
A |
G |
16: 30,157,439 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
C |
T |
7: 126,049,399 (GRCm39) |
V548M |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,992,812 (GRCm39) |
S980L |
probably damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,797,865 (GRCm39) |
M425T |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,147,143 (GRCm39) |
L2733S |
probably damaging |
Het |
| Chd3 |
C |
T |
11: 69,251,874 (GRCm39) |
|
probably null |
Het |
| Cimap1d |
T |
C |
10: 79,475,811 (GRCm39) |
N251S |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,260,448 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
C |
15: 78,556,082 (GRCm39) |
K822E |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,112,240 (GRCm39) |
S764L |
probably benign |
Het |
| Etl4 |
C |
A |
2: 20,806,348 (GRCm39) |
|
probably benign |
Het |
| Faap24 |
C |
A |
7: 35,092,376 (GRCm39) |
K180N |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,057,862 (GRCm39) |
R888W |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,581,009 (GRCm39) |
|
probably benign |
Het |
| Gm3453 |
T |
C |
14: 5,976,168 (GRCm38) |
E201G |
possibly damaging |
Het |
| Gnpat |
G |
T |
8: 125,597,644 (GRCm39) |
D69Y |
probably benign |
Het |
| Gpaa1 |
T |
A |
15: 76,217,019 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
A |
T |
9: 78,149,819 (GRCm39) |
K211* |
probably null |
Het |
| Lct |
G |
T |
1: 128,227,948 (GRCm39) |
Q1182K |
probably damaging |
Het |
| Mroh1 |
T |
C |
15: 76,311,836 (GRCm39) |
L523P |
probably damaging |
Het |
| Mrpl46 |
A |
G |
7: 78,425,200 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,785,403 (GRCm39) |
V354F |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,772,127 (GRCm39) |
D299G |
probably damaging |
Het |
| Myo6 |
G |
A |
9: 80,171,516 (GRCm39) |
V506I |
possibly damaging |
Het |
| Nadk |
A |
C |
4: 155,671,933 (GRCm39) |
K271Q |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,412,542 (GRCm39) |
R954G |
probably benign |
Het |
| Nbr1 |
T |
A |
11: 101,462,805 (GRCm39) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,835,698 (GRCm39) |
D587G |
possibly damaging |
Het |
| Oas1a |
A |
T |
5: 121,043,727 (GRCm39) |
F135Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,885,339 (GRCm39) |
|
probably benign |
Het |
| Or4k42 |
T |
G |
2: 111,320,465 (GRCm39) |
I13L |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,678,903 (GRCm39) |
T355I |
probably benign |
Het |
| Pdgfd |
G |
T |
9: 6,288,494 (GRCm39) |
L43F |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,237 (GRCm39) |
S60P |
probably benign |
Het |
| Prp2 |
A |
G |
6: 132,576,788 (GRCm39) |
N25S |
unknown |
Het |
| Ptprq |
A |
T |
10: 107,503,321 (GRCm39) |
F779Y |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,398,334 (GRCm39) |
R1078C |
probably damaging |
Het |
| Rnf38 |
G |
T |
4: 44,129,619 (GRCm39) |
S425* |
probably null |
Het |
| Rps21 |
T |
A |
2: 179,899,840 (GRCm39) |
I59N |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,324,751 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Slc35b2 |
A |
G |
17: 45,875,694 (GRCm39) |
E67G |
probably damaging |
Het |
| Slc37a2 |
A |
G |
9: 37,166,611 (GRCm39) |
F15L |
probably benign |
Het |
| Snapc4 |
A |
C |
2: 26,260,847 (GRCm39) |
N465K |
probably benign |
Het |
| Spata31f1a |
C |
T |
4: 42,850,696 (GRCm39) |
E487K |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Taco1 |
A |
G |
11: 105,960,353 (GRCm39) |
N98S |
probably benign |
Het |
| Tcea3 |
T |
C |
4: 135,985,299 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
C |
17: 84,751,456 (GRCm39) |
S507G |
probably benign |
Het |
| Tmem132b |
T |
A |
5: 125,864,611 (GRCm39) |
C906S |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,765,112 (GRCm39) |
I963N |
possibly damaging |
Het |
| Usp10 |
A |
G |
8: 120,673,825 (GRCm39) |
T397A |
probably benign |
Het |
| Usp3 |
G |
A |
9: 66,449,832 (GRCm39) |
R160* |
probably null |
Het |
| Utp15 |
T |
C |
13: 98,394,460 (GRCm39) |
Y144C |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,831 (GRCm39) |
R172W |
probably damaging |
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 |
|
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 |
|
R5504:Adam34l
|
UTSW |
8 |
44,078,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation