Incidental Mutation 'R1653:Adam34'
ID |
188858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam34
|
Ensembl Gene |
ENSMUSG00000079058 |
Gene Name |
a disintegrin and metallopeptidase domain 34 |
Synonyms |
testase 4 |
MMRRC Submission |
039689-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1653 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
44103346-44118597 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 44103682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 654
(C654*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148332
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110411]
[ENSMUST00000212185]
|
AlphaFold |
A2RSG8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000110411
AA Change: C654*
|
SMART Domains |
Protein: ENSMUSP00000106041 Gene: ENSMUSG00000079058 AA Change: C654*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
40 |
159 |
5.9e-20 |
PFAM |
Pfam:Reprolysin_5
|
205 |
377 |
1.6e-16 |
PFAM |
Pfam:Reprolysin_4
|
205 |
393 |
3e-12 |
PFAM |
Pfam:Reprolysin
|
207 |
397 |
9.4e-49 |
PFAM |
Pfam:Reprolysin_2
|
224 |
389 |
1e-14 |
PFAM |
Pfam:Reprolysin_3
|
231 |
352 |
2.7e-14 |
PFAM |
DISIN
|
416 |
491 |
3.38e-40 |
SMART |
ACR
|
492 |
628 |
9.18e-62 |
SMART |
transmembrane domain
|
685 |
707 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212185
AA Change: C654*
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,023,365 (GRCm39) |
N253K |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,140,584 (GRCm39) |
L1162S |
probably benign |
Het |
Ap2b1 |
T |
A |
11: 83,237,657 (GRCm39) |
Y574N |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,777,544 (GRCm39) |
I198V |
probably benign |
Het |
Bcan |
T |
A |
3: 87,901,503 (GRCm39) |
I400F |
probably damaging |
Het |
Capn10 |
A |
G |
1: 92,874,620 (GRCm39) |
Y617C |
probably damaging |
Het |
Capn8 |
A |
G |
1: 182,451,516 (GRCm39) |
N578D |
probably benign |
Het |
Casd1 |
T |
C |
6: 4,624,134 (GRCm39) |
L309P |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,288,449 (GRCm39) |
I204K |
probably benign |
Het |
Cd276 |
T |
C |
9: 58,444,732 (GRCm39) |
T80A |
probably benign |
Het |
Cdh3 |
T |
C |
8: 107,265,700 (GRCm39) |
S248P |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,320,836 (GRCm39) |
T659A |
possibly damaging |
Het |
Col6a4 |
C |
T |
9: 105,949,608 (GRCm39) |
V676I |
probably damaging |
Het |
Crmp1 |
T |
A |
5: 37,443,812 (GRCm39) |
V575D |
probably damaging |
Het |
Ep400 |
G |
A |
5: 110,841,040 (GRCm39) |
Q1795* |
probably null |
Het |
Gcnt3 |
A |
G |
9: 69,942,359 (GRCm39) |
C70R |
probably damaging |
Het |
Gm12258 |
T |
C |
11: 58,749,113 (GRCm39) |
I96T |
possibly damaging |
Het |
Gpr183 |
A |
G |
14: 122,191,675 (GRCm39) |
F282S |
probably damaging |
Het |
Igfals |
T |
C |
17: 25,100,052 (GRCm39) |
V381A |
probably benign |
Het |
Irs3 |
C |
A |
5: 137,642,783 (GRCm39) |
L218F |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,530,219 (GRCm39) |
F410S |
probably damaging |
Het |
Klc4 |
T |
C |
17: 46,942,785 (GRCm39) |
Y593C |
possibly damaging |
Het |
Lce1h |
T |
A |
3: 92,670,750 (GRCm39) |
Q134L |
unknown |
Het |
Lyst |
T |
C |
13: 13,809,811 (GRCm39) |
S494P |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,944,967 (GRCm39) |
M42T |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,228,246 (GRCm39) |
I250T |
probably benign |
Het |
N4bp1 |
G |
T |
8: 87,571,576 (GRCm39) |
H807Q |
probably benign |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Nfs1 |
C |
T |
2: 155,967,256 (GRCm39) |
G44D |
probably damaging |
Het |
Nrg1 |
C |
T |
8: 32,308,681 (GRCm39) |
R445H |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,115,420 (GRCm39) |
V267A |
probably benign |
Het |
Or4e5 |
A |
T |
14: 52,728,229 (GRCm39) |
F64Y |
probably damaging |
Het |
Or56a5 |
T |
A |
7: 104,793,077 (GRCm39) |
D141V |
possibly damaging |
Het |
Pak5 |
C |
T |
2: 135,958,807 (GRCm39) |
V94M |
probably damaging |
Het |
Pdk1 |
G |
A |
2: 71,719,339 (GRCm39) |
|
probably null |
Het |
Sin3b |
G |
T |
8: 73,468,147 (GRCm39) |
V290L |
probably benign |
Het |
Sirt1 |
T |
C |
10: 63,157,588 (GRCm39) |
T609A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,347,875 (GRCm39) |
S1289T |
unknown |
Het |
Slc32a1 |
A |
T |
2: 158,456,809 (GRCm39) |
H488L |
probably benign |
Het |
Slc35b3 |
A |
G |
13: 39,139,774 (GRCm39) |
S18P |
probably benign |
Het |
Spaca7 |
T |
A |
8: 12,636,501 (GRCm39) |
I109K |
possibly damaging |
Het |
Tmem204 |
A |
G |
17: 25,299,501 (GRCm39) |
L6P |
possibly damaging |
Het |
Tubgcp6 |
G |
A |
15: 88,991,645 (GRCm39) |
R651C |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
Wdcp |
T |
C |
12: 4,901,815 (GRCm39) |
L557P |
probably damaging |
Het |
Wwp2 |
T |
C |
8: 108,210,042 (GRCm39) |
F140S |
possibly damaging |
Het |
Zfp429 |
C |
T |
13: 67,538,043 (GRCm39) |
R467H |
possibly damaging |
Het |
Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
Zfp839 |
T |
A |
12: 110,821,684 (GRCm39) |
M166K |
probably benign |
Het |
Zfyve9 |
G |
A |
4: 108,517,774 (GRCm39) |
Q1106* |
probably null |
Het |
Zrsr2-ps1 |
T |
A |
11: 22,924,158 (GRCm39) |
C311S |
probably damaging |
Het |
|
Other mutations in Adam34 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00545:Adam34
|
APN |
8 |
44,105,227 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01296:Adam34
|
APN |
8 |
44,104,178 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01369:Adam34
|
APN |
8 |
44,104,094 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01933:Adam34
|
APN |
8 |
44,104,569 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01938:Adam34
|
APN |
8 |
44,104,053 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02112:Adam34
|
APN |
8 |
44,104,175 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02182:Adam34
|
APN |
8 |
44,104,790 (GRCm39) |
missense |
probably benign |
|
IGL02306:Adam34
|
APN |
8 |
44,103,522 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02661:Adam34
|
APN |
8 |
44,104,572 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02888:Adam34
|
APN |
8 |
44,104,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02979:Adam34
|
APN |
8 |
44,104,408 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03073:Adam34
|
APN |
8 |
44,103,940 (GRCm39) |
missense |
probably damaging |
0.99 |
BB010:Adam34
|
UTSW |
8 |
44,103,911 (GRCm39) |
missense |
probably damaging |
1.00 |
BB020:Adam34
|
UTSW |
8 |
44,103,911 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Adam34
|
UTSW |
8 |
44,104,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R0060:Adam34
|
UTSW |
8 |
44,128,920 (GRCm39) |
intron |
probably benign |
|
R0317:Adam34
|
UTSW |
8 |
44,105,288 (GRCm39) |
missense |
probably benign |
0.14 |
R0322:Adam34
|
UTSW |
8 |
44,104,958 (GRCm39) |
missense |
probably benign |
0.00 |
R0427:Adam34
|
UTSW |
8 |
44,105,493 (GRCm39) |
missense |
probably benign |
0.15 |
R0593:Adam34
|
UTSW |
8 |
44,104,724 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0837:Adam34
|
UTSW |
8 |
44,104,537 (GRCm39) |
missense |
probably benign |
0.00 |
R0927:Adam34
|
UTSW |
8 |
44,104,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R1634:Adam34
|
UTSW |
8 |
44,105,127 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1826:Adam34
|
UTSW |
8 |
44,104,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R1873:Adam34
|
UTSW |
8 |
44,104,843 (GRCm39) |
missense |
probably benign |
0.02 |
R1943:Adam34
|
UTSW |
8 |
44,104,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R1943:Adam34
|
UTSW |
8 |
44,103,864 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2147:Adam34
|
UTSW |
8 |
44,105,538 (GRCm39) |
missense |
probably benign |
0.01 |
R2150:Adam34
|
UTSW |
8 |
44,105,538 (GRCm39) |
missense |
probably benign |
0.01 |
R2206:Adam34
|
UTSW |
8 |
44,105,274 (GRCm39) |
missense |
probably benign |
0.02 |
R2207:Adam34
|
UTSW |
8 |
44,105,274 (GRCm39) |
missense |
probably benign |
0.02 |
R2268:Adam34
|
UTSW |
8 |
44,103,647 (GRCm39) |
missense |
probably benign |
0.00 |
R2349:Adam34
|
UTSW |
8 |
44,105,415 (GRCm39) |
missense |
probably damaging |
0.99 |
R3983:Adam34
|
UTSW |
8 |
44,103,806 (GRCm39) |
missense |
probably benign |
|
R4158:Adam34
|
UTSW |
8 |
44,103,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R4179:Adam34
|
UTSW |
8 |
44,104,128 (GRCm39) |
missense |
probably benign |
0.18 |
R5219:Adam34
|
UTSW |
8 |
44,104,461 (GRCm39) |
missense |
probably benign |
|
R5398:Adam34
|
UTSW |
8 |
44,104,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R5611:Adam34
|
UTSW |
8 |
44,104,749 (GRCm39) |
missense |
probably benign |
0.43 |
R5928:Adam34
|
UTSW |
8 |
44,105,067 (GRCm39) |
missense |
probably benign |
0.08 |
R6115:Adam34
|
UTSW |
8 |
44,105,098 (GRCm39) |
missense |
probably benign |
|
R6319:Adam34
|
UTSW |
8 |
44,104,952 (GRCm39) |
missense |
probably benign |
0.01 |
R6384:Adam34
|
UTSW |
8 |
44,103,836 (GRCm39) |
missense |
probably benign |
0.00 |
R6706:Adam34
|
UTSW |
8 |
44,104,479 (GRCm39) |
nonsense |
probably null |
|
R6992:Adam34
|
UTSW |
8 |
44,105,642 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R7032:Adam34
|
UTSW |
8 |
44,105,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Adam34
|
UTSW |
8 |
44,104,499 (GRCm39) |
missense |
probably benign |
0.19 |
R7187:Adam34
|
UTSW |
8 |
44,105,565 (GRCm39) |
missense |
probably benign |
0.02 |
R7223:Adam34
|
UTSW |
8 |
44,105,041 (GRCm39) |
missense |
probably benign |
0.02 |
R7487:Adam34
|
UTSW |
8 |
44,104,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R7726:Adam34
|
UTSW |
8 |
44,104,208 (GRCm39) |
missense |
probably damaging |
0.99 |
R7789:Adam34
|
UTSW |
8 |
44,105,488 (GRCm39) |
missense |
probably benign |
0.00 |
R7810:Adam34
|
UTSW |
8 |
44,105,045 (GRCm39) |
missense |
probably benign |
0.01 |
R7933:Adam34
|
UTSW |
8 |
44,103,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R8192:Adam34
|
UTSW |
8 |
44,103,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R8231:Adam34
|
UTSW |
8 |
44,104,659 (GRCm39) |
missense |
probably benign |
|
R8238:Adam34
|
UTSW |
8 |
44,103,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R8259:Adam34
|
UTSW |
8 |
44,104,646 (GRCm39) |
missense |
probably benign |
0.03 |
R8339:Adam34
|
UTSW |
8 |
44,103,640 (GRCm39) |
missense |
probably benign |
0.20 |
R8381:Adam34
|
UTSW |
8 |
44,104,847 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8670:Adam34
|
UTSW |
8 |
44,105,126 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8693:Adam34
|
UTSW |
8 |
44,104,641 (GRCm39) |
missense |
probably benign |
|
R8932:Adam34
|
UTSW |
8 |
44,105,192 (GRCm39) |
missense |
probably benign |
0.19 |
R8936:Adam34
|
UTSW |
8 |
44,104,439 (GRCm39) |
missense |
probably benign |
0.00 |
R8981:Adam34
|
UTSW |
8 |
44,103,840 (GRCm39) |
missense |
probably benign |
0.05 |
R9040:Adam34
|
UTSW |
8 |
44,103,363 (GRCm39) |
unclassified |
probably benign |
|
R9105:Adam34
|
UTSW |
8 |
44,103,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R9305:Adam34
|
UTSW |
8 |
44,104,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R9321:Adam34
|
UTSW |
8 |
44,105,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R9641:Adam34
|
UTSW |
8 |
44,104,076 (GRCm39) |
missense |
probably damaging |
0.97 |
R9644:Adam34
|
UTSW |
8 |
44,104,766 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGTGGCATCTTCTTCAGATTTTGC -3'
(R):5'- TCACCTGCTGGACTACGGACTATC -3'
Sequencing Primer
(F):5'- TGCAAGTCTGAAAATCAGAGATCC -3'
(R):5'- ACGGACTATCATTTTGGGATCACC -3'
|
Posted On |
2014-05-09 |