Incidental Mutation 'R6774:Adam34l'
| ID |
532287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34l
|
| Ensembl Gene |
ENSMUSG00000050190 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 like |
| Synonyms |
Gm5346 |
| MMRRC Submission |
044890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
44077988-44080313 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44078220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 668
(H668L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
| AlphaFold |
Q7M766 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056023
AA Change: H668L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: H668L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,908 (GRCm39) |
I822N |
probably damaging |
Het |
| 9930111J21Rik1 |
A |
G |
11: 48,838,143 (GRCm39) |
S815P |
possibly damaging |
Het |
| A430033K04Rik |
A |
G |
5: 138,644,712 (GRCm39) |
Y199C |
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,888,732 (GRCm39) |
V113E |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,740,172 (GRCm39) |
C494Y |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,809,266 (GRCm39) |
E1981D |
probably benign |
Het |
| Bmp7 |
A |
G |
2: 172,714,751 (GRCm39) |
Y353H |
probably damaging |
Het |
| Capn11 |
C |
T |
17: 45,968,256 (GRCm39) |
|
probably benign |
Het |
| Ccdc103 |
T |
C |
11: 102,773,519 (GRCm39) |
F47S |
probably damaging |
Het |
| Cmas |
A |
G |
6: 142,710,147 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Cntn5 |
T |
C |
9: 10,144,222 (GRCm39) |
Y149C |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,613,619 (GRCm39) |
S75R |
possibly damaging |
Het |
| Crat |
G |
A |
2: 30,303,195 (GRCm39) |
H31Y |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,737,810 (GRCm39) |
V41A |
probably benign |
Het |
| F5 |
C |
T |
1: 164,014,447 (GRCm39) |
R573C |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,117,261 (GRCm39) |
N1170S |
possibly damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,260 (GRCm39) |
C100* |
probably null |
Het |
| Gm3573 |
A |
T |
14: 42,009,472 (GRCm39) |
Y158N |
possibly damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,240,793 (GRCm39) |
A1968E |
possibly damaging |
Het |
| Heg1 |
C |
A |
16: 33,558,638 (GRCm39) |
T815K |
probably damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Kif17 |
A |
G |
4: 138,002,306 (GRCm39) |
Y170C |
probably damaging |
Het |
| Kti12 |
G |
A |
4: 108,705,652 (GRCm39) |
G189R |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,341,849 (GRCm39) |
A1821T |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,456,948 (GRCm39) |
I610V |
probably benign |
Het |
| Mmp1b |
T |
C |
9: 7,387,914 (GRCm39) |
K27E |
probably benign |
Het |
| Mob4 |
A |
G |
1: 55,187,588 (GRCm39) |
|
probably null |
Het |
| Myc |
G |
A |
15: 61,860,128 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
T |
9: 75,196,468 (GRCm39) |
I1305F |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,187,381 (GRCm39) |
V292A |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,087,102 (GRCm39) |
T373A |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,380 (GRCm39) |
V40D |
probably damaging |
Het |
| Or4a67 |
C |
T |
2: 88,598,228 (GRCm39) |
V144I |
probably benign |
Het |
| Or5p50 |
T |
A |
7: 107,422,395 (GRCm39) |
T94S |
probably benign |
Het |
| Or7e171-ps1 |
A |
T |
9: 19,853,070 (GRCm39) |
L222H |
unknown |
Het |
| Pard3 |
T |
C |
8: 128,137,228 (GRCm39) |
L859P |
probably damaging |
Het |
| Ppcs |
T |
C |
4: 119,276,285 (GRCm39) |
D100G |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,543,325 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
T |
C |
7: 138,835,903 (GRCm39) |
V448A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,056,119 (GRCm39) |
K624R |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,815,974 (GRCm39) |
I686N |
probably benign |
Het |
| Synj2 |
C |
T |
17: 6,088,290 (GRCm39) |
S1447L |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,928,606 (GRCm39) |
Y2673* |
probably null |
Het |
| Trim27 |
T |
A |
13: 21,376,624 (GRCm39) |
H457Q |
probably damaging |
Het |
| Trim72 |
T |
G |
7: 127,609,558 (GRCm39) |
F453L |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,015,379 (GRCm39) |
M877K |
probably damaging |
Het |
| Usp10 |
T |
C |
8: 120,678,711 (GRCm39) |
L564P |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,627,296 (GRCm39) |
V454A |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,904 (GRCm39) |
D701E |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
| Zfp35 |
G |
A |
18: 24,136,015 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,568 (GRCm39) |
T320A |
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 |
|
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 |
|
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'- CTTCTTCAGATTGTGCAAGTCTG -3'
(R):5'- ATGACGTTGGAGCAGTGAGC -3'
Sequencing Primer
(F):5'- CAGATTGTGCAAGTCTGAAGATC -3'
(R):5'- GCAGTGAGCGATGGCAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation