Incidental Mutation 'R6454:Adam34l'
ID |
519485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam34l
|
Ensembl Gene |
ENSMUSG00000050190 |
Gene Name |
a disintegrin and metallopeptidase domain 34 like |
Synonyms |
Gm5346 |
MMRRC Submission |
044590-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R6454 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
44077988-44080313 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 44079845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 126
(N126K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
AlphaFold |
Q7M766 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056023
AA Change: N126K
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000058858 Gene: ENSMUSG00000050190 AA Change: N126K
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.1%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
C |
T |
15: 96,270,294 (GRCm39) |
T1469I |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,608,290 (GRCm39) |
T93A |
probably benign |
Het |
Atp8a2 |
A |
T |
14: 60,245,948 (GRCm39) |
|
probably null |
Het |
Casz1 |
A |
T |
4: 149,035,952 (GRCm39) |
I1405F |
probably damaging |
Het |
Chrnb3 |
T |
C |
8: 27,883,403 (GRCm39) |
S100P |
probably damaging |
Het |
Creld2 |
T |
A |
15: 88,707,274 (GRCm39) |
C197* |
probably null |
Het |
Csmd1 |
A |
T |
8: 15,971,150 (GRCm39) |
F3055Y |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 117,880,590 (GRCm39) |
E3843D |
probably benign |
Het |
Dnah14 |
T |
C |
1: 181,611,270 (GRCm39) |
S3799P |
probably damaging |
Het |
Dpp9 |
A |
T |
17: 56,513,808 (GRCm39) |
L102Q |
probably damaging |
Het |
Eipr1 |
T |
G |
12: 28,914,761 (GRCm39) |
I305S |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Faf1 |
G |
T |
4: 109,699,531 (GRCm39) |
A359S |
probably benign |
Het |
Fam13b |
A |
G |
18: 34,590,715 (GRCm39) |
|
probably null |
Het |
Gm14496 |
A |
T |
2: 181,638,015 (GRCm39) |
N363I |
probably damaging |
Het |
Grm8 |
T |
G |
6: 27,363,775 (GRCm39) |
H580P |
possibly damaging |
Het |
Itih5 |
T |
C |
2: 10,245,479 (GRCm39) |
F523L |
probably benign |
Het |
Klhl1 |
A |
T |
14: 96,517,527 (GRCm39) |
M383K |
possibly damaging |
Het |
Lgi4 |
A |
T |
7: 30,759,557 (GRCm39) |
T38S |
probably benign |
Het |
Myh13 |
T |
A |
11: 67,241,191 (GRCm39) |
M856K |
probably benign |
Het |
Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
Nlrp9c |
G |
A |
7: 26,085,199 (GRCm39) |
R127C |
possibly damaging |
Het |
Notch2 |
T |
C |
3: 98,044,722 (GRCm39) |
I1548T |
possibly damaging |
Het |
Nphs2 |
T |
A |
1: 156,146,337 (GRCm39) |
H179Q |
probably damaging |
Het |
Nup153 |
T |
C |
13: 46,863,136 (GRCm39) |
|
probably null |
Het |
Nup50l |
T |
G |
6: 96,142,609 (GRCm39) |
H145P |
possibly damaging |
Het |
Odf2l |
C |
A |
3: 144,859,181 (GRCm39) |
Q517K |
possibly damaging |
Het |
Omd |
A |
T |
13: 49,743,345 (GRCm39) |
I132F |
probably damaging |
Het |
Or10d1b |
A |
G |
9: 39,613,130 (GRCm39) |
*312Q |
probably null |
Het |
Or4a81 |
T |
C |
2: 89,619,522 (GRCm39) |
Y58C |
probably damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,395 (GRCm39) |
N93Y |
probably benign |
Het |
Or9g19 |
A |
G |
2: 85,600,717 (GRCm39) |
K191E |
probably benign |
Het |
Otog |
A |
G |
7: 45,955,241 (GRCm39) |
N544D |
probably damaging |
Het |
Ovol3 |
A |
G |
7: 29,934,800 (GRCm39) |
Y29H |
probably damaging |
Het |
Papolb |
T |
C |
5: 142,515,353 (GRCm39) |
K97E |
possibly damaging |
Het |
Pcdhb19 |
G |
T |
18: 37,632,322 (GRCm39) |
V706L |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Plekhm1 |
G |
A |
11: 103,268,208 (GRCm39) |
R588C |
probably damaging |
Het |
Pnpla6 |
G |
T |
8: 3,587,986 (GRCm39) |
V1062L |
probably damaging |
Het |
Ppp1r9a |
T |
A |
6: 4,905,827 (GRCm39) |
F127L |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,220,456 (GRCm39) |
I476F |
probably damaging |
Het |
Rnf5 |
A |
C |
17: 34,821,283 (GRCm39) |
C47W |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,538,910 (GRCm39) |
M517K |
probably damaging |
Het |
Slc44a5 |
C |
T |
3: 153,948,796 (GRCm39) |
T188M |
probably benign |
Het |
Smco1 |
A |
G |
16: 32,092,041 (GRCm39) |
T40A |
possibly damaging |
Het |
Speer4f2 |
A |
T |
5: 17,579,431 (GRCm39) |
I77F |
probably damaging |
Het |
Spem2 |
A |
G |
11: 69,708,254 (GRCm39) |
L237P |
probably damaging |
Het |
Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
Tent5b |
A |
G |
4: 133,207,720 (GRCm39) |
D37G |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,488,938 (GRCm39) |
T749S |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,533,866 (GRCm39) |
K2291E |
probably damaging |
Het |
Tm6sf1 |
A |
G |
7: 81,525,801 (GRCm39) |
M294V |
probably damaging |
Het |
Tmem35b |
T |
C |
4: 127,022,811 (GRCm39) |
*138R |
probably null |
Het |
Tpst1 |
A |
G |
5: 130,130,892 (GRCm39) |
K121E |
possibly damaging |
Het |
Tsc22d2 |
T |
A |
3: 58,323,261 (GRCm39) |
V51D |
possibly damaging |
Het |
Tshr |
C |
A |
12: 91,505,323 (GRCm39) |
Q754K |
probably benign |
Het |
Ttc38 |
T |
A |
15: 85,723,023 (GRCm39) |
M157K |
probably damaging |
Het |
Ube2g2 |
T |
G |
10: 77,470,580 (GRCm39) |
|
probably benign |
Het |
Ugt2b37 |
T |
G |
5: 87,388,836 (GRCm39) |
D459A |
probably damaging |
Het |
Usp35 |
A |
T |
7: 96,960,851 (GRCm39) |
Y858* |
probably null |
Het |
Usp35 |
A |
T |
7: 96,960,767 (GRCm39) |
N886K |
probably damaging |
Het |
Wdr33 |
T |
C |
18: 31,963,028 (GRCm39) |
V125A |
possibly damaging |
Het |
Xpnpep1 |
G |
A |
19: 52,986,310 (GRCm39) |
T506I |
possibly 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 |
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'- AAAGAGTGGAGGCATTGCTTTC -3'
(R):5'- TCCTATAGCCTGAGCATTGGG -3'
Sequencing Primer
(F):5'- AGGCATTGCTTTCCTGAAGG -3'
(R):5'- ACCAAGGTGATCTCCTTG -3'
|
Posted On |
2018-05-24 |