Incidental Mutation 'R5398:Adam34'
ID |
429801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam34
|
Ensembl Gene |
ENSMUSG00000079058 |
Gene Name |
a disintegrin and metallopeptidase domain 34 |
Synonyms |
testase 4 |
MMRRC Submission |
042969-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R5398 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
44103346-44118597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 44104278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 456
(C456G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148332
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110411]
[ENSMUST00000212185]
|
AlphaFold |
A2RSG8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110411
AA Change: C456G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106041 Gene: ENSMUSG00000079058 AA Change: C456G
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: C456G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
95% (59/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
G |
8: 25,362,595 (GRCm39) |
L34P |
possibly damaging |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Atp8b3 |
T |
C |
10: 80,365,533 (GRCm39) |
D407G |
probably damaging |
Het |
Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
Chac1 |
T |
G |
2: 119,183,725 (GRCm39) |
L109R |
possibly damaging |
Het |
Csf2rb |
A |
G |
15: 78,232,820 (GRCm39) |
D709G |
probably benign |
Het |
Ddx42 |
T |
A |
11: 106,115,724 (GRCm39) |
D112E |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,293,872 (GRCm39) |
K1326E |
probably benign |
Het |
Dnajc3 |
T |
A |
14: 119,209,799 (GRCm39) |
Y291* |
probably null |
Het |
Dsg2 |
T |
C |
18: 20,712,190 (GRCm39) |
F109L |
probably benign |
Het |
Egfl8 |
T |
C |
17: 34,833,613 (GRCm39) |
|
probably benign |
Het |
Emb |
T |
A |
13: 117,404,088 (GRCm39) |
I280N |
probably damaging |
Het |
Gcc2 |
C |
A |
10: 58,105,329 (GRCm39) |
N188K |
probably benign |
Het |
Gdpd4 |
A |
T |
7: 97,621,185 (GRCm39) |
H166L |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
Itga11 |
A |
G |
9: 62,653,205 (GRCm39) |
T360A |
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,195,322 (GRCm39) |
S434P |
possibly damaging |
Het |
Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
Kif24 |
T |
C |
4: 41,394,401 (GRCm39) |
E824G |
possibly damaging |
Het |
Lekr1 |
T |
A |
3: 65,688,807 (GRCm39) |
|
noncoding transcript |
Het |
Ociad1 |
T |
A |
5: 73,467,755 (GRCm39) |
V231E |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or1l4 |
C |
A |
2: 37,091,330 (GRCm39) |
Q26K |
probably benign |
Het |
Pcdhb1 |
T |
C |
18: 37,399,207 (GRCm39) |
L386P |
probably damaging |
Het |
Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,687 (GRCm39) |
K255E |
possibly damaging |
Het |
Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
Ppl |
A |
G |
16: 4,922,786 (GRCm39) |
M235T |
probably benign |
Het |
Prl7d1 |
T |
A |
13: 27,894,057 (GRCm39) |
I171F |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,769,512 (GRCm39) |
Y451C |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,424,998 (GRCm39) |
Y453N |
probably damaging |
Het |
Rgs16 |
C |
T |
1: 153,616,246 (GRCm39) |
T11I |
probably benign |
Het |
Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,318,387 (GRCm39) |
Y1479C |
probably damaging |
Het |
Slc35f4 |
T |
C |
14: 49,536,304 (GRCm39) |
T294A |
probably damaging |
Het |
Slc39a6 |
A |
T |
18: 24,730,936 (GRCm39) |
I61N |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Spink12 |
A |
G |
18: 44,240,794 (GRCm39) |
D60G |
possibly damaging |
Het |
Sppl2a |
T |
C |
2: 126,761,638 (GRCm39) |
I289V |
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,055,443 (GRCm39) |
T176A |
probably damaging |
Het |
Syce1l |
T |
C |
8: 114,379,145 (GRCm39) |
L91S |
probably damaging |
Het |
Tchhl1 |
T |
C |
3: 93,378,910 (GRCm39) |
I538T |
probably benign |
Het |
Tcte1 |
C |
T |
17: 45,850,752 (GRCm39) |
Q343* |
probably null |
Het |
Tdpoz2 |
T |
G |
3: 93,559,441 (GRCm39) |
D177A |
probably damaging |
Het |
Thada |
T |
G |
17: 84,733,614 (GRCm39) |
D1011A |
probably benign |
Het |
Tnn |
T |
A |
1: 159,975,092 (GRCm39) |
M112L |
probably benign |
Het |
Traf1 |
T |
C |
2: 34,835,447 (GRCm39) |
E325G |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,305,998 (GRCm39) |
|
probably benign |
Het |
Vmn2r111 |
C |
A |
17: 22,792,252 (GRCm39) |
M1I |
probably null |
Het |
Wdr11 |
C |
T |
7: 129,232,956 (GRCm39) |
T996M |
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 |
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 |
|
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'- AGCAAATTTCATCTGCGCTTC -3'
(R):5'- GCTTGTATGATATTCCAGATGCAC -3'
Sequencing Primer
(F):5'- CGACACTGCTCATCACGTTG -3'
(R):5'- TGCACTAAAAACAATAAACCTGATGC -3'
|
Posted On |
2016-09-06 |