Incidental Mutation 'R8932:Adam34'
| ID |
690231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34
|
| Ensembl Gene |
ENSMUSG00000079058 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 |
| Synonyms |
testase 4 |
| MMRRC Submission |
068776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8932 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
44103346-44118597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44105192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 151
(T151K)
|
| 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: T151K
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: T151K
| 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: T151K
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
C |
T |
18: 80,185,893 (GRCm39) |
G27S |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,292 (GRCm39) |
M265V |
probably benign |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,428 (GRCm39) |
E118K |
probably damaging |
Het |
| Apoe |
T |
C |
7: 19,430,597 (GRCm39) |
D215G |
possibly damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,924,850 (GRCm39) |
I438V |
probably benign |
Het |
| Bckdha |
A |
G |
7: 25,330,436 (GRCm39) |
S387P |
probably damaging |
Het |
| Camkk1 |
T |
C |
11: 72,924,734 (GRCm39) |
F316L |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,197,179 (GRCm39) |
Y158H |
|
Het |
| Ccdc148 |
T |
C |
2: 58,894,054 (GRCm39) |
R29G |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,884,274 (GRCm39) |
V356A |
probably benign |
Het |
| Cdan1 |
G |
A |
2: 120,561,568 (GRCm39) |
Q66* |
probably null |
Het |
| Ckap4 |
A |
T |
10: 84,364,290 (GRCm39) |
S258T |
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,419,306 (GRCm39) |
D1258G |
probably benign |
Het |
| Col6a1 |
G |
A |
10: 76,552,593 (GRCm39) |
P431L |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,223,859 (GRCm39) |
Y874C |
probably damaging |
Het |
| Csn1s2a |
A |
G |
5: 87,933,164 (GRCm39) |
I138V |
probably benign |
Het |
| Cyp19a1 |
C |
T |
9: 54,083,861 (GRCm39) |
G176D |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,878,015 (GRCm39) |
E2700G |
possibly damaging |
Het |
| Eif3l |
T |
A |
15: 78,960,006 (GRCm39) |
Y23* |
probably null |
Het |
| Fam72a |
A |
G |
1: 131,456,502 (GRCm39) |
K22E |
probably benign |
Het |
| Golim4 |
A |
G |
3: 75,805,351 (GRCm39) |
V258A |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,237,739 (GRCm39) |
A272V |
probably benign |
Het |
| Hpse |
T |
C |
5: 100,846,872 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ift140 |
A |
T |
17: 25,305,862 (GRCm39) |
Q816H |
probably benign |
Het |
| Iqca1 |
A |
T |
1: 90,067,750 (GRCm39) |
I167N |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,401,141 (GRCm39) |
F515L |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,295 (GRCm39) |
R558H |
probably benign |
Het |
| Kcna10 |
G |
A |
3: 107,101,419 (GRCm39) |
D17N |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,915,829 (GRCm39) |
I164V |
probably damaging |
Het |
| Lrrc55 |
G |
T |
2: 85,026,615 (GRCm39) |
N136K |
probably damaging |
Het |
| Mdm4 |
A |
T |
1: 132,940,382 (GRCm39) |
M50K |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
| Mindy4 |
G |
A |
6: 55,201,115 (GRCm39) |
D267N |
probably benign |
Het |
| Mllt10 |
T |
A |
2: 18,128,617 (GRCm39) |
S199R |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,533,029 (GRCm39) |
S436P |
probably damaging |
Het |
| Mpped2 |
A |
G |
2: 106,697,395 (GRCm39) |
N290S |
possibly damaging |
Het |
| Mrgpra2a |
A |
G |
7: 47,076,445 (GRCm39) |
L271P |
probably benign |
Het |
| Myrf |
T |
A |
19: 10,200,931 (GRCm39) |
E247D |
probably benign |
Het |
| Ndrg3 |
A |
G |
2: 156,782,299 (GRCm39) |
I189T |
possibly damaging |
Het |
| Nenf |
C |
T |
1: 191,050,148 (GRCm39) |
E48K |
probably benign |
Het |
| Nlgn2 |
T |
A |
11: 69,718,994 (GRCm39) |
N232Y |
probably damaging |
Het |
| Oog2 |
G |
T |
4: 143,920,685 (GRCm39) |
M39I |
probably benign |
Het |
| Or9r7 |
A |
T |
10: 129,962,631 (GRCm39) |
N98K |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,304,371 (GRCm39) |
N461K |
probably benign |
Het |
| P4ha1 |
A |
G |
10: 59,175,130 (GRCm39) |
D30G |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,590,762 (GRCm39) |
C1631S |
probably damaging |
Het |
| Pigk |
A |
G |
3: 152,445,871 (GRCm39) |
M161V |
possibly damaging |
Het |
| Prdm1 |
G |
T |
10: 44,317,335 (GRCm39) |
S496Y |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,095,299 (GRCm39) |
N624S |
possibly damaging |
Het |
| Rgs6 |
A |
G |
12: 83,112,733 (GRCm39) |
D181G |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 110,040,155 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
A |
C |
10: 79,898,042 (GRCm39) |
L728W |
probably damaging |
Het |
| Selenbp2 |
A |
T |
3: 94,609,793 (GRCm39) |
I310F |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,432,986 (GRCm39) |
W1244R |
possibly damaging |
Het |
| Slc34a1 |
A |
C |
13: 24,004,184 (GRCm39) |
I395L |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,194,693 (GRCm39) |
D877E |
probably damaging |
Het |
| Smtn |
T |
C |
11: 3,472,908 (GRCm39) |
S255G |
probably benign |
Het |
| Tbx2 |
T |
A |
11: 85,725,533 (GRCm39) |
D161E |
probably damaging |
Het |
| Tex14 |
C |
A |
11: 87,324,675 (GRCm39) |
L26M |
possibly damaging |
Het |
| Traf7 |
A |
G |
17: 24,731,286 (GRCm39) |
F249S |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,815,366 (GRCm39) |
K1151E |
possibly damaging |
Het |
| Ttc7b |
A |
G |
12: 100,268,022 (GRCm39) |
V773A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,747,912 (GRCm39) |
T4379I |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,602,854 (GRCm39) |
T18456I |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,709,171 (GRCm39) |
L8703V |
unknown |
Het |
| Ubb |
T |
A |
11: 62,442,979 (GRCm39) |
I3N |
probably damaging |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,343 (GRCm39) |
W116R |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,838 (GRCm39) |
D190G |
probably damaging |
Het |
| Wdr12 |
T |
A |
1: 60,130,202 (GRCm39) |
M70L |
probably benign |
Het |
| Wdr48 |
C |
A |
9: 119,740,142 (GRCm39) |
T317K |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,993,962 (GRCm39) |
V474A |
probably benign |
Het |
| Zfp128 |
C |
T |
7: 12,625,113 (GRCm39) |
R494C |
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 |
|
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 |
|
|
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'- TGTGATGCGTCCACCAATTC -3'
(R):5'- GGGCAGAGGCACATAATCAC -3'
Sequencing Primer
(F):5'- GATGCGTCCACCAATTCTCATAGG -3'
(R):5'- ACTTATAGTGACCAAGGTGATCTCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation