Incidental Mutation 'R7086:Adam30'
| ID |
549889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam30
|
| Ensembl Gene |
ENSMUSG00000043468 |
| Gene Name |
a disintegrin and metallopeptidase domain 30 |
| Synonyms |
4933424D07Rik |
| MMRRC Submission |
045180-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R7086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98067950-98071485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98068635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 28
(H28R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050342]
[ENSMUST00000198363]
|
| AlphaFold |
Q811Q3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050342
AA Change: H156R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: H156R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
36 |
159 |
5.7e-20 |
PFAM |
|
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin
|
202 |
393 |
1.1e-31 |
PFAM |
|
DISIN
|
407 |
482 |
1.6e-32 |
SMART |
|
ACR
|
483 |
625 |
1.84e-52 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198363
AA Change: H28R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142590
Gene: ENSMUSG00000043468
AA Change: H28R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
59 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
72 |
259 |
2.6e-6 |
PFAM |
|
Pfam:Reprolysin
|
74 |
265 |
2.1e-29 |
PFAM |
|
Pfam:Reprolysin_3
|
101 |
220 |
1.1e-4 |
PFAM |
|
| Meta Mutation Damage Score |
0.7562 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (60/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,127,649 (GRCm39) |
I563T |
probably benign |
Het |
| Ankub1 |
A |
T |
3: 57,597,746 (GRCm39) |
C75S |
probably damaging |
Het |
| Antxrl |
G |
A |
14: 33,787,873 (GRCm39) |
V299I |
probably benign |
Het |
| Arfgef2 |
T |
A |
2: 166,718,536 (GRCm39) |
C1442S |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,169,881 (GRCm39) |
D399G |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,554,414 (GRCm39) |
Y666N |
probably damaging |
Het |
| Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
| Cfap91 |
A |
T |
16: 38,127,219 (GRCm39) |
F512L |
possibly damaging |
Het |
| Chrng |
C |
A |
1: 87,138,735 (GRCm39) |
R455S |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,429,402 (GRCm39) |
H151R |
probably benign |
Het |
| Cluh |
T |
A |
11: 74,558,166 (GRCm39) |
H1155Q |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,946,773 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
G |
A |
17: 29,378,051 (GRCm39) |
P576L |
unknown |
Het |
| Crocc |
C |
A |
4: 140,774,368 (GRCm39) |
V144L |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,324,669 (GRCm39) |
V2781A |
probably damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,355 (GRCm39) |
F326L |
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,395,333 (GRCm39) |
|
probably null |
Het |
| Dennd2b |
A |
G |
7: 109,124,781 (GRCm39) |
I1083T |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,789,285 (GRCm39) |
R3303G |
probably benign |
Het |
| Dnhd1 |
G |
T |
7: 105,357,739 (GRCm39) |
R3191S |
probably benign |
Het |
| Fgfbp3 |
T |
G |
19: 36,896,103 (GRCm39) |
S172R |
possibly damaging |
Het |
| Gpr158 |
G |
A |
2: 21,831,386 (GRCm39) |
V829I |
probably benign |
Het |
| Gtse1 |
A |
G |
15: 85,759,750 (GRCm39) |
D647G |
probably damaging |
Het |
| H2-Q7 |
T |
A |
17: 35,658,461 (GRCm39) |
V33E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,326,877 (GRCm39) |
T4739A |
possibly damaging |
Het |
| Kcnip1 |
G |
T |
11: 33,584,629 (GRCm39) |
P175T |
probably damaging |
Het |
| Klhl10 |
T |
C |
11: 100,347,768 (GRCm39) |
V608A |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,275,664 (GRCm39) |
Y80H |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,956,988 (GRCm39) |
|
probably null |
Het |
| Lst1 |
G |
A |
17: 35,404,262 (GRCm39) |
H59Y |
probably damaging |
Het |
| Mphosph8 |
G |
C |
14: 56,905,980 (GRCm39) |
V58L |
possibly damaging |
Het |
| Mpnd |
C |
A |
17: 56,316,457 (GRCm39) |
S45R |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,183,453 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
A |
G |
7: 140,046,341 (GRCm39) |
T76A |
possibly damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,594 (GRCm39) |
I107V |
probably benign |
Het |
| Phox2a |
A |
G |
7: 101,467,718 (GRCm39) |
Y5C |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,704,317 (GRCm39) |
S540P |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,849,767 (GRCm39) |
M1133V |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,667,297 (GRCm39) |
M1126V |
probably benign |
Het |
| Ppm1l |
A |
G |
3: 69,225,186 (GRCm39) |
Y96C |
probably damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,368,109 (GRCm39) |
T234A |
probably benign |
Het |
| R3hcc1l |
T |
C |
19: 42,570,409 (GRCm39) |
V668A |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,993,353 (GRCm39) |
S712P |
probably benign |
Het |
| Rcc2 |
T |
C |
4: 140,435,280 (GRCm39) |
C100R |
probably benign |
Het |
| Recql4 |
C |
A |
15: 76,589,753 (GRCm39) |
G764V |
unknown |
Het |
| Rlbp1 |
A |
G |
7: 79,029,813 (GRCm39) |
I140T |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,667,794 (GRCm39) |
T261A |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,254,924 (GRCm39) |
S65P |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,988,690 (GRCm39) |
V920A |
probably benign |
Het |
| Spata31 |
T |
A |
13: 65,070,043 (GRCm39) |
S730R |
probably benign |
Het |
| Spta1 |
C |
T |
1: 174,027,050 (GRCm39) |
A841V |
probably damaging |
Het |
| Tnfaip1 |
T |
C |
11: 78,416,265 (GRCm39) |
S273G |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,969,364 (GRCm39) |
V371A |
probably benign |
Het |
| Vmn1r67 |
G |
A |
7: 10,181,044 (GRCm39) |
V103I |
possibly damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,333,178 (GRCm39) |
T24K |
probably benign |
Het |
| Wdr43 |
G |
A |
17: 71,923,434 (GRCm39) |
G60D |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,287,185 (GRCm39) |
T335I |
probably damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,791,873 (GRCm39) |
I300N |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,741,056 (GRCm39) |
K403R |
probably damaging |
Het |
|
| Other mutations in Adam30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00787:Adam30
|
APN |
3 |
98,069,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01630:Adam30
|
APN |
3 |
98,069,171 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01825:Adam30
|
APN |
3 |
98,069,217 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02033:Adam30
|
APN |
3 |
98,068,787 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03157:Adam30
|
APN |
3 |
98,069,612 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03330:Adam30
|
APN |
3 |
98,069,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Adam30
|
UTSW |
3 |
98,069,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1082:Adam30
|
UTSW |
3 |
98,069,606 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1173:Adam30
|
UTSW |
3 |
98,070,222 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1463:Adam30
|
UTSW |
3 |
98,069,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Adam30
|
UTSW |
3 |
98,068,835 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1862:Adam30
|
UTSW |
3 |
98,069,429 (GRCm39) |
nonsense |
probably null |
|
|
R3442:Adam30
|
UTSW |
3 |
98,069,886 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4125:Adam30
|
UTSW |
3 |
98,068,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Adam30
|
UTSW |
3 |
98,070,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Adam30
|
UTSW |
3 |
98,070,061 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5447:Adam30
|
UTSW |
3 |
98,068,659 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5958:Adam30
|
UTSW |
3 |
98,069,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Adam30
|
UTSW |
3 |
98,070,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Adam30
|
UTSW |
3 |
98,068,625 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6338:Adam30
|
UTSW |
3 |
98,068,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Adam30
|
UTSW |
3 |
98,068,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6998:Adam30
|
UTSW |
3 |
98,070,026 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7290:Adam30
|
UTSW |
3 |
98,070,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7340:Adam30
|
UTSW |
3 |
98,069,637 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8181:Adam30
|
UTSW |
3 |
98,070,291 (GRCm39) |
missense |
probably benign |
|
|
R8725:Adam30
|
UTSW |
3 |
98,070,348 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8727:Adam30
|
UTSW |
3 |
98,070,348 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8913:Adam30
|
UTSW |
3 |
98,068,580 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8977:Adam30
|
UTSW |
3 |
98,069,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9008:Adam30
|
UTSW |
3 |
98,070,034 (GRCm39) |
nonsense |
probably null |
|
|
R9126:Adam30
|
UTSW |
3 |
98,068,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9181:Adam30
|
UTSW |
3 |
98,070,194 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9274:Adam30
|
UTSW |
3 |
98,069,267 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9338:Adam30
|
UTSW |
3 |
98,070,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9636:Adam30
|
UTSW |
3 |
98,068,312 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9640:Adam30
|
UTSW |
3 |
98,069,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Adam30
|
UTSW |
3 |
98,069,936 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Adam30
|
UTSW |
3 |
98,069,676 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Adam30
|
UTSW |
3 |
98,068,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTCAAGAGGGCAGTCTG -3'
(R):5'- ATCCTAGACATATTGCCACGGG -3'
Sequencing Primer
(F):5'- CAGTCTGATAGAGGATTATCCGC -3'
(R):5'- GGGCAAACACGAATCTATCCAGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation