Incidental Mutation 'R8192:Adam34'
| ID |
635224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34
|
| Ensembl Gene |
ENSMUSG00000079058 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 |
| Synonyms |
testase 4 |
| MMRRC Submission |
067615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
44103346-44118597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44103970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 558
(D558E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110411]
[ENSMUST00000212185]
|
| AlphaFold |
A2RSG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110411
AA Change: D558E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: D558E
| 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 damaging
Transcript: ENSMUST00000212185
AA Change: D558E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox15 |
T |
A |
11: 70,241,736 (GRCm39) |
E48D |
probably benign |
Het |
| Alyref |
T |
C |
11: 120,488,522 (GRCm39) |
E102G |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,562,294 (GRCm39) |
S254G |
probably benign |
Het |
| Bcl2l13 |
A |
G |
6: 120,853,267 (GRCm39) |
E184G |
possibly damaging |
Het |
| Best1 |
T |
A |
19: 9,963,664 (GRCm39) |
I506F |
possibly damaging |
Het |
| Cd177 |
T |
A |
7: 24,453,727 (GRCm39) |
D388V |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,816,529 (GRCm39) |
K329E |
possibly damaging |
Het |
| Clasrp |
T |
C |
7: 19,329,387 (GRCm39) |
N65S |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,199,745 (GRCm39) |
R1301G |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,849,273 (GRCm39) |
E624G |
probably benign |
Het |
| Cyp21a1 |
A |
T |
17: 35,022,633 (GRCm39) |
Y109N |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,134 (GRCm39) |
S359P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,431,002 (GRCm39) |
T846A |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,976,181 (GRCm39) |
V2746A |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,428,036 (GRCm39) |
A221T |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,623,166 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,362,023 (GRCm39) |
I119V |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,399,255 (GRCm39) |
T120A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,332,145 (GRCm39) |
H397R |
probably benign |
Het |
| Gaa |
G |
T |
11: 119,161,235 (GRCm39) |
A93S |
possibly damaging |
Het |
| Galnt4 |
G |
A |
10: 98,945,118 (GRCm39) |
R281H |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,291 (GRCm39) |
E29G |
unknown |
Het |
| H13 |
T |
G |
2: 152,511,522 (GRCm39) |
D7E |
probably benign |
Het |
| H60c |
T |
A |
10: 3,209,781 (GRCm39) |
I140F |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,620,908 (GRCm39) |
N49S |
probably benign |
Het |
| Klhl11 |
G |
T |
11: 100,354,922 (GRCm39) |
P300T |
probably benign |
Het |
| Knop1 |
C |
A |
7: 118,452,369 (GRCm39) |
V117L |
|
Het |
| Lgalsl2 |
T |
A |
7: 5,362,595 (GRCm39) |
D75E |
possibly damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,334,390 (GRCm39) |
S4456P |
probably damaging |
Het |
| Mkrn1 |
A |
T |
6: 39,376,289 (GRCm39) |
V439D |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,305,215 (GRCm39) |
V612D |
|
Het |
| Nrxn3 |
A |
G |
12: 90,171,569 (GRCm39) |
N967D |
probably benign |
Het |
| Oprm1 |
C |
T |
10: 6,788,417 (GRCm39) |
P391S |
probably benign |
Het |
| Or10g7 |
T |
A |
9: 39,905,467 (GRCm39) |
D120E |
probably damaging |
Het |
| Or5d43 |
A |
C |
2: 88,105,288 (GRCm39) |
V35G |
probably damaging |
Het |
| Parp14 |
T |
A |
16: 35,691,584 (GRCm39) |
E47V |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,285,554 (GRCm39) |
E931G |
possibly damaging |
Het |
| Plcz1 |
A |
T |
6: 139,968,986 (GRCm39) |
C151S |
probably damaging |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Pramel27 |
G |
A |
4: 143,578,109 (GRCm39) |
W123* |
probably null |
Het |
| Rbm26 |
A |
G |
14: 105,380,125 (GRCm39) |
|
probably null |
Het |
| Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
| Sc5d |
T |
C |
9: 42,171,094 (GRCm39) |
I32V |
probably benign |
Het |
| Scube1 |
A |
G |
15: 83,513,583 (GRCm39) |
|
probably null |
Het |
| Shld2 |
A |
T |
14: 33,967,173 (GRCm39) |
S680T |
probably benign |
Het |
| Slc12a6 |
A |
G |
2: 112,181,722 (GRCm39) |
Y714C |
probably damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,518,541 (GRCm39) |
I670V |
probably benign |
Het |
| Slc8a3 |
A |
T |
12: 81,246,455 (GRCm39) |
V866D |
probably damaging |
Het |
| Slco3a1 |
A |
T |
7: 73,970,338 (GRCm39) |
M423K |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,349,336 (GRCm39) |
E773G |
probably benign |
Het |
| Son |
A |
G |
16: 91,452,437 (GRCm39) |
T395A |
possibly damaging |
Het |
| Ss18l1 |
T |
C |
2: 179,701,155 (GRCm39) |
S290P |
probably damaging |
Het |
| Tcof1 |
A |
C |
18: 60,976,375 (GRCm39) |
V78G |
probably damaging |
Het |
| Thsd1 |
G |
A |
8: 22,733,918 (GRCm39) |
V322M |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,253,811 (GRCm39) |
C753* |
probably null |
Het |
| Trav6n-6 |
T |
A |
14: 53,370,497 (GRCm39) |
F83I |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,007 (GRCm39) |
H222R |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,793,294 (GRCm39) |
L288P |
probably benign |
Het |
| Zfp442 |
T |
C |
2: 150,250,629 (GRCm39) |
I424M |
unknown |
Het |
| Zfp580 |
T |
C |
7: 5,056,114 (GRCm39) |
V100A |
probably benign |
Het |
| Zfpm1 |
C |
A |
8: 123,058,833 (GRCm39) |
P151Q |
probably damaging |
Het |
| Zfr2 |
C |
T |
10: 81,078,649 (GRCm39) |
P294S |
possibly 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 |
|
R1653:Adam34
|
UTSW |
8 |
44,103,682 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- CAAGTTGTGCCATCGCTCAC -3'
(R):5'- AACTTCCGCTGAGTGTCCAG -3'
Sequencing Primer
(F):5'- ACTGCTCCAACGTCATCTATGGTG -3'
(R):5'- AGACGGAATCCCTTGCAGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation