Incidental Mutation 'R0927:Adam34l'
ID |
80511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam34l
|
Ensembl Gene |
ENSMUSG00000050190 |
Gene Name |
a disintegrin and metallopeptidase domain 34 like |
Synonyms |
Gm5346 |
MMRRC Submission |
039074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R0927 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
44077988-44080313 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44078160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 688
(M688K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
AlphaFold |
Q7M766 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056023
AA Change: M688K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000058858 Gene: ENSMUSG00000050190 AA Change: M688K
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: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
C |
5: 24,607,317 (GRCm39) |
L363P |
probably damaging |
Het |
Adam12 |
T |
A |
7: 133,599,959 (GRCm39) |
H85L |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,104,621 (GRCm39) |
H341Q |
probably damaging |
Het |
Adam7 |
A |
G |
14: 68,754,133 (GRCm39) |
L322P |
probably damaging |
Het |
Adcy5 |
T |
A |
16: 34,976,613 (GRCm39) |
S49T |
probably benign |
Het |
Arfgap2 |
T |
C |
2: 91,104,150 (GRCm39) |
S374P |
probably benign |
Het |
Arpp19 |
G |
A |
9: 74,944,967 (GRCm39) |
|
probably benign |
Het |
Baz1a |
T |
C |
12: 54,941,773 (GRCm39) |
K1478E |
probably damaging |
Het |
Cdc27 |
G |
T |
11: 104,396,467 (GRCm39) |
A812E |
possibly damaging |
Het |
Chtf8 |
G |
A |
8: 107,612,150 (GRCm39) |
T263I |
probably damaging |
Het |
Clcn6 |
T |
C |
4: 148,113,849 (GRCm39) |
N70D |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,349,553 (GRCm39) |
T289S |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,795,840 (GRCm39) |
N177S |
probably damaging |
Het |
Edar |
G |
T |
10: 58,465,313 (GRCm39) |
|
probably null |
Het |
Enam |
T |
A |
5: 88,641,919 (GRCm39) |
N244K |
possibly damaging |
Het |
Fbxw10 |
A |
G |
11: 62,767,770 (GRCm39) |
K874E |
probably damaging |
Het |
Glra3 |
A |
G |
8: 56,578,239 (GRCm39) |
E432G |
possibly damaging |
Het |
Grin3b |
G |
A |
10: 79,807,062 (GRCm39) |
R110Q |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,845,748 (GRCm39) |
V423D |
possibly damaging |
Het |
Ifit2 |
A |
T |
19: 34,550,984 (GRCm39) |
T175S |
probably benign |
Het |
Kcnj8 |
T |
G |
6: 142,511,627 (GRCm39) |
I327L |
possibly damaging |
Het |
Kcns2 |
A |
T |
15: 34,839,242 (GRCm39) |
I202F |
probably benign |
Het |
Kif12 |
T |
C |
4: 63,087,010 (GRCm39) |
R305G |
possibly damaging |
Het |
Limch1 |
A |
G |
5: 67,154,576 (GRCm39) |
D362G |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,687,540 (GRCm39) |
I2815T |
probably damaging |
Het |
Lrrtm1 |
G |
T |
6: 77,221,843 (GRCm39) |
M433I |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,462,040 (GRCm39) |
D312G |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,344,758 (GRCm39) |
I382N |
probably damaging |
Het |
Nudt6 |
C |
T |
3: 37,459,502 (GRCm39) |
R161H |
probably benign |
Het |
Or10w1 |
T |
A |
19: 13,631,816 (GRCm39) |
W8R |
probably damaging |
Het |
Or11g2 |
A |
C |
14: 50,856,044 (GRCm39) |
M122L |
possibly damaging |
Het |
Or4m1 |
A |
T |
14: 50,558,186 (GRCm39) |
Y35* |
probably null |
Het |
Or7e166 |
C |
T |
9: 19,624,945 (GRCm39) |
A274V |
probably benign |
Het |
Pmf1 |
A |
T |
3: 88,303,369 (GRCm39) |
V64D |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,009,048 (GRCm39) |
V29D |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,380,790 (GRCm39) |
H411L |
possibly damaging |
Het |
Pramel26 |
A |
T |
4: 143,539,378 (GRCm39) |
D38E |
probably benign |
Het |
Prex1 |
C |
T |
2: 166,428,457 (GRCm39) |
A925T |
probably benign |
Het |
Pus3 |
A |
G |
9: 35,476,327 (GRCm39) |
Y72C |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,642,176 (GRCm39) |
S247P |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,305,396 (GRCm39) |
D542E |
probably benign |
Het |
Sidt1 |
T |
C |
16: 44,063,895 (GRCm39) |
D786G |
probably benign |
Het |
Sirt6 |
A |
T |
10: 81,458,475 (GRCm39) |
D219E |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,072,411 (GRCm39) |
I67N |
probably damaging |
Het |
Slc47a1 |
A |
G |
11: 61,264,248 (GRCm39) |
F57S |
probably damaging |
Het |
Spg11 |
T |
A |
2: 121,924,968 (GRCm39) |
T756S |
probably damaging |
Het |
Sptbn1 |
C |
A |
11: 30,071,591 (GRCm39) |
R1447L |
probably damaging |
Het |
Tcf7l2 |
A |
G |
19: 55,907,387 (GRCm39) |
M340V |
probably damaging |
Het |
Thap1 |
T |
C |
8: 26,652,733 (GRCm39) |
V157A |
probably benign |
Het |
Ubash3b |
G |
A |
9: 40,934,853 (GRCm39) |
Q354* |
probably null |
Het |
Ubtd1 |
G |
A |
19: 42,020,460 (GRCm39) |
W68* |
probably null |
Het |
Wdr64 |
G |
T |
1: 175,620,647 (GRCm39) |
R793L |
probably damaging |
Het |
Zbtb24 |
C |
T |
10: 41,327,432 (GRCm39) |
T106I |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,326,337 (GRCm39) |
N233S |
possibly damaging |
Het |
Zcchc24 |
A |
T |
14: 25,757,585 (GRCm39) |
N99K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGATGCAGAACATCTGACCTGG -3'
(R):5'- CCATAGATGACGTTGGAGCAGTGAG -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TCTCGACAGAAAGTGTGTCAGC -3'
|
Posted On |
2013-11-07 |