Incidental Mutation 'R7151:Adam34'
| ID |
554137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34
|
| Ensembl Gene |
ENSMUSG00000079058 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 |
| Synonyms |
testase 4 |
| MMRRC Submission |
045253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7151 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
44103346-44118597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44104499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 382
(E382V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110411]
[ENSMUST00000212185]
|
| AlphaFold |
A2RSG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110411
AA Change: E382V
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: E382V
| 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 benign
Transcript: ENSMUST00000212185
AA Change: E382V
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6330409D20Rik |
T |
A |
2: 32,630,618 (GRCm39) |
Q52L |
unknown |
Het |
| Acsl1 |
A |
G |
8: 46,966,634 (GRCm39) |
D202G |
probably damaging |
Het |
| Adam3 |
A |
T |
8: 25,185,271 (GRCm39) |
C476S |
probably damaging |
Het |
| Akap5 |
G |
A |
12: 76,375,023 (GRCm39) |
V152I |
probably benign |
Het |
| Aldh5a1 |
C |
T |
13: 25,121,382 (GRCm39) |
W57* |
probably null |
Het |
| Angptl2 |
C |
T |
2: 33,133,922 (GRCm39) |
Q415* |
probably null |
Het |
| Bnc1 |
G |
T |
7: 81,623,055 (GRCm39) |
T724N |
possibly damaging |
Het |
| Brca2 |
T |
C |
5: 150,464,901 (GRCm39) |
V1555A |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,643,483 (GRCm39) |
D322V |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,357 (GRCm39) |
D498E |
possibly damaging |
Het |
| Ddx24 |
T |
C |
12: 103,390,347 (GRCm39) |
T215A |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,580,476 (GRCm39) |
V492E |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,359,234 (GRCm39) |
R3523Q |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,841,916 (GRCm39) |
D971V |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,323,816 (GRCm39) |
|
probably null |
Het |
| Erich5 |
T |
A |
15: 34,471,095 (GRCm39) |
L108Q |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,029,230 (GRCm39) |
Y1743F |
probably damaging |
Het |
| Gale |
T |
C |
4: 135,694,503 (GRCm39) |
V243A |
probably damaging |
Het |
| Gspt1 |
T |
A |
16: 11,071,692 (GRCm39) |
Q57L |
probably benign |
Het |
| Gtf3a |
C |
A |
5: 146,888,085 (GRCm39) |
Q129K |
probably benign |
Het |
| Heyl |
T |
C |
4: 123,140,254 (GRCm39) |
V271A |
probably benign |
Het |
| Hsd17b4 |
T |
C |
18: 50,261,437 (GRCm39) |
F7L |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,810,594 (GRCm39) |
T150A |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,274,699 (GRCm39) |
D790E |
probably damaging |
Het |
| Igkv4-69 |
T |
A |
6: 69,260,917 (GRCm39) |
Y70F |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,530,878 (GRCm39) |
Y405H |
probably damaging |
Het |
| Insyn2a |
A |
C |
7: 134,520,374 (GRCm39) |
I52S |
probably damaging |
Het |
| Irf2bpl |
G |
T |
12: 86,930,127 (GRCm39) |
P182Q |
probably benign |
Het |
| Itm2b |
C |
A |
14: 73,605,829 (GRCm39) |
|
probably benign |
Het |
| Kcnc2 |
T |
C |
10: 112,294,414 (GRCm39) |
V106A |
possibly damaging |
Het |
| Krt87 |
C |
A |
15: 101,387,529 (GRCm39) |
D170Y |
probably damaging |
Het |
| Lca5 |
T |
A |
9: 83,280,693 (GRCm39) |
Y369F |
probably benign |
Het |
| Mgat5 |
T |
A |
1: 127,373,999 (GRCm39) |
D466E |
probably damaging |
Het |
| Mier3 |
C |
T |
13: 111,851,302 (GRCm39) |
P428L |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,152,418 (GRCm39) |
Y167H |
unknown |
Het |
| Neu2 |
A |
G |
1: 87,524,297 (GRCm39) |
E94G |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,256,672 (GRCm39) |
K97* |
probably null |
Het |
| Npdc1 |
A |
G |
2: 25,299,120 (GRCm39) |
M306V |
probably damaging |
Het |
| Odf2l |
A |
T |
3: 144,832,827 (GRCm39) |
N95I |
probably benign |
Het |
| Or10j3 |
A |
G |
1: 173,031,633 (GRCm39) |
K237E |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,970,665 (GRCm39) |
V15L |
probably benign |
Het |
| Or5t16 |
A |
G |
2: 86,819,385 (GRCm39) |
V45A |
probably benign |
Het |
| Or7g21 |
A |
G |
9: 19,033,037 (GRCm39) |
Y259C |
possibly damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,127 (GRCm39) |
F183L |
probably benign |
Het |
| Proser3 |
A |
G |
7: 30,239,749 (GRCm39) |
F452L |
possibly damaging |
Het |
| Ptgfrn |
G |
T |
3: 100,987,511 (GRCm39) |
Y117* |
probably null |
Het |
| Rab3gap2 |
G |
T |
1: 184,980,250 (GRCm39) |
V360F |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,266,475 (GRCm39) |
D687V |
possibly damaging |
Het |
| Rxfp2 |
T |
G |
5: 149,966,572 (GRCm39) |
N103K |
probably benign |
Het |
| Scfd2 |
T |
A |
5: 74,558,326 (GRCm39) |
Q517L |
possibly damaging |
Het |
| Scnn1b |
G |
A |
7: 121,517,109 (GRCm39) |
A582T |
probably damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,021,818 (GRCm39) |
E170G |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,533,527 (GRCm39) |
V194E |
probably damaging |
Het |
| Sgcz |
T |
A |
8: 38,006,833 (GRCm39) |
H191L |
possibly damaging |
Het |
| Sirt1 |
A |
T |
10: 63,159,775 (GRCm39) |
L435Q |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,301,420 (GRCm39) |
P315S |
probably damaging |
Het |
| Spdef |
T |
A |
17: 27,939,134 (GRCm39) |
S71C |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,025,317 (GRCm39) |
H727Q |
probably damaging |
Het |
| Srsf1 |
C |
T |
11: 87,940,084 (GRCm39) |
Q199* |
probably null |
Het |
| Stard9 |
A |
T |
2: 120,526,623 (GRCm39) |
D960V |
probably benign |
Het |
| Tcp10c |
A |
T |
17: 13,576,166 (GRCm39) |
I49F |
possibly damaging |
Het |
| Tgm2 |
T |
C |
2: 157,971,315 (GRCm39) |
N308S |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,498,660 (GRCm39) |
D812G |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,311,541 (GRCm39) |
V67D |
possibly damaging |
Het |
| Trps1 |
C |
T |
15: 50,685,793 (GRCm39) |
R794H |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
| Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
| Vmn2r92 |
A |
T |
17: 18,387,005 (GRCm39) |
T115S |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,208,376 (GRCm39) |
D377G |
probably damaging |
Het |
| Wdr55 |
G |
T |
18: 36,895,989 (GRCm39) |
A251S |
possibly damaging |
Het |
| Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,929,231 (GRCm39) |
H67Q |
probably benign |
Het |
| Zfp462 |
G |
A |
4: 55,051,271 (GRCm39) |
C2248Y |
probably damaging |
Het |
| Zyg11b |
T |
C |
4: 108,102,119 (GRCm39) |
H534R |
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 |
|
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'- CCAGGTTTGAGAACACAGTCG -3'
(R):5'- TTAGGGTTAGCTAATGTAGGTACAG -3'
Sequencing Primer
(F):5'- GTTTGAGAACACAGTCGCTGCTAC -3'
(R):5'- CAGTTTGTTTAACTCTAAACTGTGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation