Incidental Mutation 'R6232:Adam34l'
| ID |
504680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34l
|
| Ensembl Gene |
ENSMUSG00000050190 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 like |
| Synonyms |
Gm5346 |
| MMRRC Submission |
044360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6232 (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 G
at 44078949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 425
(N425T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
| AlphaFold |
Q7M766 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056023
AA Change: N425T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: N425T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
94% (64/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,268,933 (GRCm39) |
V198A |
possibly damaging |
Het |
| Adgra2 |
A |
T |
8: 27,609,193 (GRCm39) |
M805L |
probably benign |
Het |
| Arhgap39 |
T |
C |
15: 76,620,712 (GRCm39) |
S630G |
probably damaging |
Het |
| Bcl3 |
T |
A |
7: 19,546,409 (GRCm39) |
N142I |
probably damaging |
Het |
| Cfap210 |
C |
T |
2: 69,602,398 (GRCm39) |
E338K |
possibly damaging |
Het |
| Chuk |
A |
T |
19: 44,085,431 (GRCm39) |
D238E |
probably benign |
Het |
| Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,395,427 (GRCm39) |
L66Q |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dst |
T |
A |
1: 34,227,253 (GRCm39) |
D1290E |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,075,235 (GRCm39) |
I583T |
probably benign |
Het |
| Eif1ad13 |
A |
T |
12: 87,762,351 (GRCm39) |
R24* |
probably null |
Het |
| Fbxl2 |
T |
A |
9: 113,815,516 (GRCm39) |
D249V |
probably damaging |
Het |
| Fbxo30 |
A |
T |
10: 11,165,602 (GRCm39) |
Y108F |
possibly damaging |
Het |
| Fibin |
G |
T |
2: 110,193,041 (GRCm39) |
H34N |
probably damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,161,632 (GRCm39) |
I319V |
probably benign |
Het |
| Gfm1 |
G |
T |
3: 67,375,215 (GRCm39) |
L559F |
possibly damaging |
Het |
| Gm5134 |
T |
A |
10: 75,821,859 (GRCm39) |
L231Q |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,638 (GRCm39) |
|
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,183,657 (GRCm39) |
|
probably null |
Het |
| Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,813 (GRCm39) |
Q281R |
probably damaging |
Het |
| Krt40 |
G |
A |
11: 99,433,920 (GRCm39) |
A22V |
possibly damaging |
Het |
| Ldlrap1 |
C |
T |
4: 134,486,345 (GRCm39) |
R38Q |
possibly damaging |
Het |
| Lepr |
A |
G |
4: 101,671,588 (GRCm39) |
|
probably null |
Het |
| Map3k12 |
A |
G |
15: 102,412,081 (GRCm39) |
S328P |
probably damaging |
Het |
| Mrpl2 |
T |
C |
17: 46,958,356 (GRCm39) |
V46A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,568,294 (GRCm39) |
N1408K |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,226,753 (GRCm39) |
Q366L |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,467,802 (GRCm39) |
V462A |
probably damaging |
Het |
| Nradd |
G |
T |
9: 110,450,655 (GRCm39) |
T174N |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,138,963 (GRCm39) |
S12P |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,943,337 (GRCm39) |
E4832* |
probably null |
Het |
| Opn3 |
G |
A |
1: 175,490,669 (GRCm39) |
R331W |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,761 (GRCm39) |
C127S |
probably damaging |
Het |
| Or2w3 |
T |
A |
11: 58,556,757 (GRCm39) |
V124E |
possibly damaging |
Het |
| Or4a66 |
G |
T |
2: 88,531,161 (GRCm39) |
H171N |
probably benign |
Het |
| Or52ae9 |
T |
A |
7: 103,389,661 (GRCm39) |
H262L |
probably damaging |
Het |
| Or5b120 |
G |
A |
19: 13,480,427 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or6b2 |
T |
C |
1: 92,408,305 (GRCm39) |
I13V |
probably benign |
Het |
| Phip |
A |
G |
9: 82,785,234 (GRCm39) |
V827A |
probably benign |
Het |
| Phldb1 |
G |
A |
9: 44,607,414 (GRCm39) |
R1264W |
probably damaging |
Het |
| Pibf1 |
T |
G |
14: 99,424,014 (GRCm39) |
I529S |
probably benign |
Het |
| Pkp1 |
T |
A |
1: 135,814,599 (GRCm39) |
I241F |
probably benign |
Het |
| Pla2g4f |
G |
T |
2: 120,132,702 (GRCm39) |
D711E |
possibly damaging |
Het |
| Pold1 |
A |
G |
7: 44,190,266 (GRCm39) |
|
probably null |
Het |
| Pold2 |
T |
C |
11: 5,823,691 (GRCm39) |
S287G |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,567 (GRCm39) |
|
probably benign |
Het |
| Prl8a1 |
T |
C |
13: 27,759,557 (GRCm39) |
E160G |
possibly damaging |
Het |
| Rfc4 |
C |
T |
16: 22,932,840 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
T |
G |
9: 37,332,225 (GRCm39) |
Y891S |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsph14 |
G |
A |
10: 74,797,520 (GRCm39) |
R156W |
probably benign |
Het |
| Sec61a1 |
T |
C |
6: 88,482,150 (GRCm39) |
Y457C |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,704,861 (GRCm39) |
|
probably null |
Het |
| Spen |
T |
C |
4: 141,244,333 (GRCm39) |
E234G |
unknown |
Het |
| Sphkap |
T |
A |
1: 83,258,200 (GRCm39) |
E181V |
probably damaging |
Het |
| Stau2 |
C |
T |
1: 16,445,035 (GRCm39) |
A298T |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 56,990,796 (GRCm39) |
I661V |
probably benign |
Het |
| Thoc6 |
A |
C |
17: 23,889,295 (GRCm39) |
|
probably null |
Het |
| Trpv1 |
T |
A |
11: 73,141,636 (GRCm39) |
M553K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,641,579 (GRCm39) |
I11760V |
probably benign |
Het |
| Vmn1r61 |
G |
A |
7: 5,613,850 (GRCm39) |
H155Y |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,153,214 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
A |
G |
7: 85,607,498 (GRCm39) |
I75T |
possibly damaging |
Het |
| Wwp2 |
C |
A |
8: 108,232,977 (GRCm39) |
T205K |
probably benign |
Het |
| Zfp1003 |
A |
T |
2: 177,546,195 (GRCm39) |
T40S |
probably benign |
Het |
| Zfp747 |
C |
T |
7: 126,973,306 (GRCm39) |
G288D |
probably damaging |
Het |
| Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
Het |
| Zfp953 |
G |
A |
13: 67,491,161 (GRCm39) |
L264F |
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 |
|
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'- CTGGACACTCACCTGAAGTTCC -3'
(R):5'- ATGGAAGTGCATGTACATGTGG -3'
Sequencing Primer
(F):5'- CATTGCACCACTCTGGAAGGTC -3'
(R):5'- AAGTGCATGTACATGTGGGTTAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation