Incidental Mutation 'R7797:Adam34l'
| ID |
600289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34l
|
| Ensembl Gene |
ENSMUSG00000050190 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 like |
| Synonyms |
Gm5346 |
| MMRRC Submission |
045853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R7797 (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 44079411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 271
(E271V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
| AlphaFold |
Q7M766 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056023
AA Change: E271V
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: E271V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,862,509 (GRCm39) |
|
probably null |
Het |
| Adam3 |
T |
G |
8: 25,184,660 (GRCm39) |
N535T |
probably damaging |
Het |
| Adamts4 |
A |
G |
1: 171,085,387 (GRCm39) |
K679E |
probably damaging |
Het |
| Arnt |
G |
A |
3: 95,387,572 (GRCm39) |
|
probably null |
Het |
| Asah2 |
A |
G |
19: 31,999,761 (GRCm39) |
F321L |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,562,505 (GRCm39) |
S156P |
probably damaging |
Het |
| Baiap2l1 |
A |
C |
5: 144,255,760 (GRCm39) |
S65A |
probably damaging |
Het |
| Bend7 |
T |
G |
2: 4,754,455 (GRCm39) |
M186R |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,948,232 (GRCm39) |
K146E |
possibly damaging |
Het |
| Cd19 |
A |
G |
7: 126,012,680 (GRCm39) |
W238R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,679,079 (GRCm39) |
N241I |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,220,973 (GRCm39) |
E1257G |
probably benign |
Het |
| Cfap300 |
G |
T |
9: 8,027,130 (GRCm39) |
P136Q |
possibly damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,666,270 (GRCm39) |
V1100A |
probably benign |
Het |
| Cul7 |
T |
C |
17: 46,969,568 (GRCm39) |
V945A |
possibly damaging |
Het |
| Dock2 |
C |
T |
11: 34,232,652 (GRCm39) |
C1116Y |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,046,109 (GRCm39) |
M547V |
possibly damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Grhl3 |
C |
G |
4: 135,286,416 (GRCm39) |
K88N |
possibly damaging |
Het |
| Hbb-y |
T |
A |
7: 103,501,088 (GRCm39) |
Y146F |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,005,847 (GRCm39) |
V815A |
probably benign |
Het |
| Hoxa7 |
T |
A |
6: 52,192,870 (GRCm39) |
I173F |
probably damaging |
Het |
| Igkv1-110 |
T |
G |
6: 68,247,977 (GRCm39) |
S29A |
probably benign |
Het |
| Jade2 |
A |
G |
11: 51,708,126 (GRCm39) |
S696P |
probably benign |
Het |
| Kif1b |
T |
A |
4: 149,321,844 (GRCm39) |
Q1025L |
probably benign |
Het |
| Kif2c |
A |
T |
4: 117,028,940 (GRCm39) |
C241S |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,762,287 (GRCm39) |
H400N |
probably benign |
Het |
| Krt35 |
T |
A |
11: 99,985,713 (GRCm39) |
N174Y |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,958,618 (GRCm39) |
V489A |
probably damaging |
Het |
| Mapk7 |
T |
C |
11: 61,380,241 (GRCm39) |
E739G |
possibly damaging |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,061,814 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,034,022 (GRCm39) |
R607H |
probably damaging |
Het |
| Met |
T |
A |
6: 17,533,952 (GRCm39) |
N634K |
probably damaging |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Mmp11 |
G |
T |
10: 75,759,314 (GRCm39) |
T107K |
|
Het |
| Mroh2b |
A |
C |
15: 4,978,587 (GRCm39) |
N1378H |
probably benign |
Het |
| Naa15 |
G |
A |
3: 51,356,031 (GRCm39) |
C322Y |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,580,986 (GRCm39) |
Y87F |
probably damaging |
Het |
| Ngrn |
A |
G |
7: 79,914,185 (GRCm39) |
D112G |
probably benign |
Het |
| Osbpl1a |
C |
A |
18: 13,015,321 (GRCm39) |
C369F |
probably damaging |
Het |
| Pcnx2 |
G |
C |
8: 126,512,087 (GRCm39) |
D1406E |
possibly damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,286,664 (GRCm39) |
D46G |
probably damaging |
Het |
| Pold1 |
G |
A |
7: 44,191,213 (GRCm39) |
P206L |
probably benign |
Het |
| Psen1 |
A |
G |
12: 83,746,396 (GRCm39) |
S20G |
probably benign |
Het |
| Ptpn23 |
C |
T |
9: 110,222,875 (GRCm39) |
D61N |
possibly damaging |
Het |
| Rbfox3 |
A |
T |
11: 118,387,310 (GRCm39) |
L268Q |
possibly damaging |
Het |
| Rbm22 |
A |
G |
18: 60,694,344 (GRCm39) |
T26A |
probably damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,371,277 (GRCm39) |
R332Q |
possibly damaging |
Het |
| Rrm2b |
A |
T |
15: 37,927,505 (GRCm39) |
L347* |
probably null |
Het |
| Rsf1 |
A |
T |
7: 97,310,692 (GRCm39) |
D474V |
|
Het |
| Ryr2 |
C |
T |
13: 11,816,066 (GRCm39) |
R640Q |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,389,245 (GRCm39) |
E691G |
unknown |
Het |
| Septin1 |
A |
T |
7: 126,813,937 (GRCm39) |
V365E |
unknown |
Het |
| Tlk2 |
A |
G |
11: 105,101,444 (GRCm39) |
H114R |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,869,864 (GRCm39) |
I135T |
possibly damaging |
Het |
| Tpst2 |
T |
A |
5: 112,455,782 (GRCm39) |
V107E |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,060,407 (GRCm39) |
D456E |
possibly damaging |
Het |
| Ttll3 |
T |
C |
6: 113,371,738 (GRCm39) |
V45A |
possibly damaging |
Het |
| Ulk2 |
A |
G |
11: 61,672,928 (GRCm39) |
Y889H |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,178,125 (GRCm39) |
S34G |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,180,903 (GRCm39) |
I56V |
probably benign |
Het |
| Vmn2r120 |
C |
T |
17: 57,815,874 (GRCm39) |
G827E |
probably damaging |
Het |
| Zc3h6 |
T |
C |
2: 128,857,555 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GTGCTACGATGAATGCCAGATATG -3'
(R):5'- ATTGGTGGACCCATCACAGG -3'
Sequencing Primer
(F):5'- TACGATGAATGCCAGATATGATAACG -3'
(R):5'- TGGACCCATCACAGGTTTATTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation