Incidental Mutation 'R1801:Adam34l'
| ID |
203140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34l
|
| Ensembl Gene |
ENSMUSG00000050190 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 like |
| Synonyms |
Gm5346 |
| MMRRC Submission |
039831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1801 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
44077988-44080313 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 44078954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 423
(C423*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
| AlphaFold |
Q7M766 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056023
AA Change: C423*
|
| SMART Domains |
Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: C423*
| 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 |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,230 (GRCm39) |
E362G |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,157,637 (GRCm39) |
M1307V |
probably benign |
Het |
| Adamts9 |
A |
G |
6: 92,840,357 (GRCm39) |
V1142A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,082,096 (GRCm39) |
N525S |
probably damaging |
Het |
| Bpifa2 |
T |
C |
2: 153,853,424 (GRCm39) |
|
probably null |
Het |
| C7 |
C |
T |
15: 5,041,503 (GRCm39) |
V468I |
possibly damaging |
Het |
| Carf |
A |
T |
1: 60,180,664 (GRCm39) |
H362L |
possibly damaging |
Het |
| Ccdc171 |
A |
C |
4: 83,465,132 (GRCm39) |
I37L |
probably benign |
Het |
| Ccdc182 |
T |
C |
11: 88,185,016 (GRCm39) |
L32P |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,711,825 (GRCm39) |
D1678V |
possibly damaging |
Het |
| Col7a1 |
A |
T |
9: 108,790,065 (GRCm39) |
Y920F |
unknown |
Het |
| Cpsf3 |
T |
C |
12: 21,363,791 (GRCm39) |
V627A |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,941 (GRCm39) |
M640T |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,411,283 (GRCm39) |
D543G |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,123 (GRCm39) |
N2972D |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,813,857 (GRCm39) |
D304G |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,026,705 (GRCm39) |
V1232A |
possibly damaging |
Het |
| Ezr |
T |
C |
17: 7,009,771 (GRCm39) |
T358A |
possibly damaging |
Het |
| Filip1 |
A |
G |
9: 79,723,128 (GRCm39) |
S1164P |
probably damaging |
Het |
| Gmip |
T |
C |
8: 70,267,127 (GRCm39) |
V341A |
probably benign |
Het |
| Gnb3 |
A |
C |
6: 124,812,599 (GRCm39) |
F286V |
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 186,958,028 (GRCm39) |
S128T |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,813 (GRCm39) |
R231G |
possibly damaging |
Het |
| Hip1r |
G |
A |
5: 124,136,871 (GRCm39) |
R613Q |
probably benign |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,206 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,517,625 (GRCm39) |
D275V |
probably damaging |
Het |
| Il4 |
G |
T |
11: 53,509,365 (GRCm39) |
H23Q |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,809,053 (GRCm39) |
Y749C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,506,578 (GRCm39) |
K275R |
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,416,808 (GRCm39) |
R510L |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,628,689 (GRCm39) |
Y345C |
probably damaging |
Het |
| Med15 |
T |
C |
16: 17,498,599 (GRCm39) |
T98A |
possibly damaging |
Het |
| Mmp1a |
T |
A |
9: 7,475,391 (GRCm39) |
Y387N |
probably damaging |
Het |
| Myrf |
C |
A |
19: 10,191,555 (GRCm39) |
V928L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,662,325 (GRCm39) |
K134E |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 90,250,356 (GRCm39) |
D305V |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,889,147 (GRCm39) |
S7542A |
unknown |
Het |
| Or4a27 |
T |
A |
2: 88,559,608 (GRCm39) |
I112F |
probably damaging |
Het |
| Pak4 |
G |
A |
7: 28,264,615 (GRCm39) |
R96C |
probably damaging |
Het |
| Pde6b |
A |
T |
5: 108,575,713 (GRCm39) |
D691V |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,221,601 (GRCm39) |
E171G |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,387,740 (GRCm39) |
V873I |
possibly damaging |
Het |
| Plb1 |
A |
T |
5: 32,450,587 (GRCm39) |
D376V |
probably damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,913,904 (GRCm39) |
Y1209H |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,393,885 (GRCm39) |
C263R |
probably damaging |
Het |
| Psma2 |
A |
T |
13: 14,798,190 (GRCm39) |
Y104F |
probably benign |
Het |
| Ptger4 |
T |
A |
15: 5,272,281 (GRCm39) |
M113L |
possibly damaging |
Het |
| Rgs10 |
T |
G |
7: 128,006,201 (GRCm39) |
D17A |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,592,090 (GRCm39) |
S189P |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,610,167 (GRCm39) |
S655G |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,106,756 (GRCm39) |
|
probably null |
Het |
| Sema4a |
C |
T |
3: 88,344,056 (GRCm39) |
D732N |
probably benign |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,177 (GRCm39) |
D378G |
probably benign |
Het |
| Sh3gl3 |
C |
T |
7: 81,933,327 (GRCm39) |
T230I |
possibly damaging |
Het |
| Slc28a2b |
C |
T |
2: 122,352,133 (GRCm39) |
R324C |
possibly damaging |
Het |
| Slc5a1 |
A |
T |
5: 33,304,297 (GRCm39) |
Q299L |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,939,606 (GRCm39) |
H681N |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,689,360 (GRCm39) |
S10P |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,016,639 (GRCm39) |
|
probably null |
Het |
| Syna |
A |
G |
5: 134,588,943 (GRCm39) |
V2A |
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,141,089 (GRCm39) |
Y299* |
probably null |
Het |
| Tenm3 |
C |
A |
8: 48,729,291 (GRCm39) |
V1572L |
probably benign |
Het |
| Tent4b |
T |
G |
8: 88,977,416 (GRCm39) |
V406G |
probably benign |
Het |
| Trp53rka |
A |
G |
2: 165,333,533 (GRCm39) |
S119P |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,179,874 (GRCm39) |
|
probably null |
Het |
| Uchl4 |
T |
A |
9: 64,142,757 (GRCm39) |
D79E |
probably benign |
Het |
| Vmn2r17 |
C |
A |
5: 109,576,344 (GRCm39) |
T405K |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,998,564 (GRCm39) |
L228P |
probably damaging |
Het |
| Xrcc4 |
T |
G |
13: 90,140,698 (GRCm39) |
E170D |
probably damaging |
Het |
| Zfp945 |
T |
C |
17: 23,070,736 (GRCm39) |
T388A |
probably damaging |
Het |
| Zfp947 |
G |
A |
17: 22,365,443 (GRCm39) |
A77V |
probably benign |
Het |
| Zkscan5 |
G |
A |
5: 145,157,015 (GRCm39) |
G433R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACACTCACCTGAAGTTCC -3'
(R):5'- AGCATGATGGAAGTGCATGTAC -3'
Sequencing Primer
(F):5'- CATTGCACCACTCTGGAAGGTC -3'
(R):5'- CATGATGGAAGTGCATGTACATGTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation