Incidental Mutation 'R6455:Adam34l'
| ID |
519550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34l
|
| Ensembl Gene |
ENSMUSG00000050190 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 like |
| Synonyms |
Gm5346 |
| MMRRC Submission |
044591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6455 (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 44079189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 345
(H345L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
| AlphaFold |
Q7M766 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056023
AA Change: H345L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: H345L
| 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: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,042,376 (GRCm39) |
R1899G |
probably damaging |
Het |
| Abca6 |
C |
T |
11: 110,132,407 (GRCm39) |
G296D |
probably damaging |
Het |
| Abcb5 |
A |
T |
12: 118,854,284 (GRCm39) |
|
probably null |
Het |
| Adam28 |
T |
G |
14: 68,870,657 (GRCm39) |
T339P |
probably damaging |
Het |
| Adcy10 |
C |
G |
1: 165,345,943 (GRCm39) |
Q331E |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,160,196 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,673,639 (GRCm39) |
I3078N |
probably damaging |
Het |
| Amtn |
A |
T |
5: 88,528,139 (GRCm39) |
N71Y |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,438,753 (GRCm39) |
Y370F |
probably benign |
Het |
| Arid4a |
T |
C |
12: 71,121,862 (GRCm39) |
S748P |
probably benign |
Het |
| Atp2b1 |
C |
A |
10: 98,852,842 (GRCm39) |
Q108K |
possibly damaging |
Het |
| Bcdin3d |
T |
C |
15: 99,368,830 (GRCm39) |
D123G |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,184,410 (GRCm39) |
S24P |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,896,754 (GRCm39) |
S1550R |
possibly damaging |
Het |
| Ccdc7a |
C |
T |
8: 129,559,091 (GRCm39) |
V1174M |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,578 (GRCm39) |
I155F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,863 (GRCm39) |
I611T |
possibly damaging |
Het |
| Chrna1 |
C |
T |
2: 73,397,180 (GRCm39) |
D370N |
possibly damaging |
Het |
| Dlg2 |
C |
A |
7: 92,093,716 (GRCm39) |
|
probably null |
Het |
| Dll4 |
A |
T |
2: 119,164,276 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,058,108 (GRCm39) |
S137P |
probably benign |
Het |
| Epn2 |
A |
T |
11: 61,424,467 (GRCm39) |
M250K |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,283 (GRCm39) |
Q3149L |
probably damaging |
Het |
| Fbxl13 |
G |
A |
5: 21,761,812 (GRCm39) |
S341F |
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,922,597 (GRCm39) |
C191S |
probably damaging |
Het |
| Gm5150 |
C |
T |
3: 16,044,815 (GRCm39) |
G137S |
probably damaging |
Het |
| Gpr75 |
C |
T |
11: 30,841,529 (GRCm39) |
R145W |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
| Ina |
G |
A |
19: 47,012,000 (GRCm39) |
E473K |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,402,700 (GRCm39) |
S22P |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,394,933 (GRCm39) |
M32K |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,061,795 (GRCm39) |
S1383T |
probably benign |
Het |
| Lclat1 |
T |
A |
17: 73,468,828 (GRCm39) |
S3T |
probably damaging |
Het |
| Llgl1 |
G |
A |
11: 60,600,486 (GRCm39) |
V612M |
probably damaging |
Het |
| Mios |
A |
G |
6: 8,231,239 (GRCm39) |
R708G |
probably benign |
Het |
| Mphosph8 |
T |
C |
14: 56,925,943 (GRCm39) |
L636P |
probably damaging |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,893 (GRCm39) |
N254Y |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Myog |
G |
A |
1: 134,218,226 (GRCm39) |
D145N |
probably benign |
Het |
| Nat10 |
T |
A |
2: 103,570,231 (GRCm39) |
I371F |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,057,656 (GRCm39) |
Y229* |
probably null |
Het |
| Nlrp6 |
T |
A |
7: 140,507,422 (GRCm39) |
I896K |
possibly damaging |
Het |
| Or11g7 |
A |
T |
14: 50,691,042 (GRCm39) |
I178L |
possibly damaging |
Het |
| Or52p2 |
G |
A |
7: 102,237,878 (GRCm39) |
A24V |
probably benign |
Het |
| Or5an11 |
T |
C |
19: 12,246,070 (GRCm39) |
S159P |
probably damaging |
Het |
| Pate5 |
T |
A |
9: 35,755,351 (GRCm39) |
K3* |
probably null |
Het |
| Pcdhgc5 |
A |
C |
18: 37,954,301 (GRCm39) |
E525A |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,741,930 (GRCm39) |
Y150F |
probably benign |
Het |
| Pkd2 |
C |
A |
5: 104,607,790 (GRCm39) |
D96E |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,815,138 (GRCm39) |
D1022G |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,689,150 (GRCm39) |
M981T |
probably benign |
Het |
| Rc3h2 |
C |
A |
2: 37,299,482 (GRCm39) |
A183S |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,937,856 (GRCm39) |
I270N |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,378,646 (GRCm39) |
R524W |
probably damaging |
Het |
| Slc25a10 |
T |
C |
11: 120,386,031 (GRCm39) |
V124A |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,958,107 (GRCm39) |
I109F |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,202,820 (GRCm39) |
R1936W |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,514 (GRCm39) |
Y183N |
probably benign |
Het |
| Svil |
A |
G |
18: 5,056,629 (GRCm39) |
K588E |
possibly damaging |
Het |
| Tas2r122 |
C |
T |
6: 132,688,626 (GRCm39) |
W89* |
probably null |
Het |
| Tbxas1 |
T |
A |
6: 38,929,079 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,397,360 (GRCm39) |
I111N |
probably damaging |
Het |
| Tlr9 |
T |
A |
9: 106,101,198 (GRCm39) |
L163H |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,942,289 (GRCm39) |
V806M |
probably damaging |
Het |
| Traf5 |
G |
A |
1: 191,731,887 (GRCm39) |
A318V |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,219,482 (GRCm39) |
M1K |
probably null |
Het |
| Utp25 |
G |
T |
1: 192,810,684 (GRCm39) |
D106E |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,000 (GRCm39) |
R73S |
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,331 (GRCm39) |
Y53C |
probably benign |
Het |
| Vmn2r34 |
T |
A |
7: 7,686,582 (GRCm39) |
N372Y |
probably damaging |
Het |
| Wbp2 |
A |
T |
11: 115,970,579 (GRCm39) |
S229R |
probably damaging |
Het |
| Wdr18 |
C |
T |
10: 79,801,115 (GRCm39) |
T176I |
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 |
|
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 |
|
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'- GGTCGGCACCAGTGTTATTG -3'
(R):5'- CCTAGATGCATTCTGTAGTTGGAAG -3'
Sequencing Primer
(F):5'- ACCAGTGTTATTGTTTTTAGTGCATC -3'
(R):5'- GCATTCTGTAGTTGGAAGAAAAATGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation