Incidental Mutation 'R0322:Adam34'
| ID |
25620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34
|
| Ensembl Gene |
ENSMUSG00000079058 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 |
| Synonyms |
testase 4 |
| MMRRC Submission |
038532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R0322 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
44103346-44118597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44104958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 229
(T229N)
|
| 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: T229N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: T229N
| 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: T229N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.8%
- 20x: 84.3%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,888,768 (GRCm39) |
S275T |
possibly damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,260,829 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
| Arl9 |
A |
G |
5: 77,155,037 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
G |
A |
2: 118,470,099 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,678,844 (GRCm39) |
|
probably benign |
Het |
| Cobl |
T |
A |
11: 12,217,072 (GRCm39) |
E465V |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,932,442 (GRCm39) |
M520K |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,995,793 (GRCm39) |
V336A |
possibly damaging |
Het |
| Dnmbp |
T |
C |
19: 43,843,285 (GRCm39) |
H1193R |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,152,338 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gjc3 |
A |
T |
5: 137,955,760 (GRCm39) |
M175K |
possibly damaging |
Het |
| Gpc5 |
T |
A |
14: 115,636,563 (GRCm39) |
N415K |
probably benign |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Il7r |
A |
T |
15: 9,510,301 (GRCm39) |
F251I |
probably benign |
Het |
| Insc |
A |
G |
7: 114,391,500 (GRCm39) |
E141G |
probably damaging |
Het |
| Itm2c |
C |
T |
1: 85,834,751 (GRCm39) |
T160M |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,416,063 (GRCm39) |
|
probably benign |
Het |
| Mdm2 |
G |
T |
10: 117,538,109 (GRCm39) |
H96Q |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,371,745 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
T |
C |
10: 39,823,526 (GRCm39) |
N245D |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mtmr3 |
T |
C |
11: 4,437,505 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Mymk |
A |
T |
2: 26,957,418 (GRCm39) |
L66Q |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,720,626 (GRCm39) |
S767P |
probably damaging |
Het |
| Ndufa8 |
T |
C |
2: 35,926,634 (GRCm39) |
D134G |
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,982,566 (GRCm39) |
F83S |
probably damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,179,042 (GRCm39) |
I123L |
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,059,534 (GRCm39) |
T394A |
probably benign |
Het |
| Or4s2b |
T |
C |
2: 88,509,011 (GRCm39) |
S264P |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,521 (GRCm39) |
Y178C |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,383 (GRCm39) |
T306A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,140,775 (GRCm39) |
|
probably benign |
Het |
| Phyhip |
G |
A |
14: 70,700,836 (GRCm39) |
V108M |
possibly damaging |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Psmb4 |
A |
G |
3: 94,793,402 (GRCm39) |
Y160H |
probably benign |
Het |
| Riox2 |
A |
T |
16: 59,309,752 (GRCm39) |
K369* |
probably null |
Het |
| Rnf26rt |
T |
C |
6: 76,473,401 (GRCm39) |
Y405C |
probably benign |
Het |
| Sh3tc1 |
G |
A |
5: 35,863,905 (GRCm39) |
P761S |
possibly damaging |
Het |
| Slc6a3 |
T |
A |
13: 73,709,045 (GRCm39) |
V323D |
possibly damaging |
Het |
| Smg7 |
A |
G |
1: 152,725,624 (GRCm39) |
|
probably null |
Het |
| Srrt |
G |
A |
5: 137,294,870 (GRCm39) |
R370C |
probably damaging |
Het |
| Stc1 |
T |
C |
14: 69,266,858 (GRCm39) |
V7A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,057,996 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
A |
G |
2: 23,984,991 (GRCm39) |
V51A |
probably benign |
Het |
| Tecr |
A |
G |
8: 84,298,872 (GRCm39) |
Y248H |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,689,947 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
C |
T |
6: 86,397,369 (GRCm39) |
A114V |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,739,275 (GRCm39) |
M2K |
probably benign |
Het |
| Tnfsf8 |
T |
C |
4: 63,752,403 (GRCm39) |
T221A |
probably damaging |
Het |
| Tubgcp5 |
G |
A |
7: 55,464,726 (GRCm39) |
G536S |
probably damaging |
Het |
| Tyr |
A |
T |
7: 87,142,125 (GRCm39) |
I145N |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,149,729 (GRCm39) |
V1809E |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,595,756 (GRCm39) |
N309K |
probably benign |
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 |
|
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 |
|
|
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'- TGAACTTCCATCATGCATCATGCCC -3'
(R):5'- AAGACCCAGAGTCCCTGGTCATTG -3'
Sequencing Primer
(F):5'- CTCATGTGCTATGATGAATGCC -3'
(R):5'- AGAGTCCCTGGTCATTGTCAATAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation