Incidental Mutation 'R6553:Adam1b'
| ID |
521776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam1b
|
| Ensembl Gene |
ENSMUSG00000062438 |
| Gene Name |
a disintegrin and metallopeptidase domain 1b |
| Synonyms |
PH-30 alpha, fertilin alpha, Ftna |
| MMRRC Submission |
044678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121638161-121641498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121639250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 598
(D598E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079368]
[ENSMUST00000111795]
[ENSMUST00000156080]
|
| AlphaFold |
Q8R534 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079368
AA Change: D598E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: D598E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
38 |
159 |
1.6e-18 |
PFAM |
|
Pfam:Reprolysin_5
|
201 |
378 |
2.9e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
202 |
386 |
6.8e-9 |
PFAM |
|
Pfam:Reprolysin
|
203 |
397 |
2.4e-70 |
PFAM |
|
Pfam:Reprolysin_3
|
223 |
349 |
3.9e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
223 |
387 |
5.8e-9 |
PFAM |
|
DISIN
|
415 |
488 |
8.08e-29 |
SMART |
|
ACR
|
489 |
628 |
3.41e-47 |
SMART |
|
EGF
|
634 |
665 |
2.34e1 |
SMART |
|
transmembrane domain
|
705 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
763 |
801 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111795
|
| SMART Domains |
Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156080
|
| SMART Domains |
Protein: ENSMUSP00000121579
Gene: ENSMUSG00000029452
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
|
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
|
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196484
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, healthy and fertile with no significant defects in sperm function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
| Asic5 |
A |
T |
3: 81,916,773 (GRCm39) |
T288S |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,945,692 (GRCm39) |
N72S |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,046 (GRCm39) |
T130A |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,908,975 (GRCm39) |
V1196E |
probably damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,213,012 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
| Gm2888 |
A |
G |
14: 3,037,722 (GRCm38) |
H238R |
possibly damaging |
Het |
| Gm5622 |
A |
G |
14: 51,895,200 (GRCm39) |
K120E |
probably damaging |
Het |
| Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,126,558 (GRCm39) |
V245A |
probably damaging |
Het |
| Kmt2e |
G |
A |
5: 23,668,024 (GRCm39) |
V28I |
probably damaging |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
| Or6c6c |
C |
T |
10: 129,540,932 (GRCm39) |
R62C |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trav13n-3 |
A |
G |
14: 53,574,618 (GRCm39) |
T14A |
probably benign |
Het |
| Trav9d-4 |
A |
T |
14: 53,221,198 (GRCm39) |
Q63L |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,453 (GRCm39) |
N450Y |
probably benign |
Het |
| Vmn2r97 |
G |
A |
17: 19,150,566 (GRCm39) |
W471* |
probably null |
Het |
| Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly damaging |
Het |
| Zpld2 |
A |
G |
4: 133,929,367 (GRCm39) |
S313P |
probably damaging |
Het |
|
| Other mutations in Adam1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Adam1b
|
APN |
5 |
121,639,056 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01696:Adam1b
|
APN |
5 |
121,638,856 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01906:Adam1b
|
APN |
5 |
121,639,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02003:Adam1b
|
APN |
5 |
121,639,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02438:Adam1b
|
APN |
5 |
121,639,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Adam1b
|
APN |
5 |
121,639,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03258:Adam1b
|
APN |
5 |
121,639,447 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4519001:Adam1b
|
UTSW |
5 |
121,640,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Adam1b
|
UTSW |
5 |
121,638,970 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1816:Adam1b
|
UTSW |
5 |
121,639,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1831:Adam1b
|
UTSW |
5 |
121,641,000 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1833:Adam1b
|
UTSW |
5 |
121,641,000 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1839:Adam1b
|
UTSW |
5 |
121,639,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Adam1b
|
UTSW |
5 |
121,639,118 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2110:Adam1b
|
UTSW |
5 |
121,638,777 (GRCm39) |
intron |
probably benign |
|
|
R2112:Adam1b
|
UTSW |
5 |
121,638,777 (GRCm39) |
intron |
probably benign |
|
|
R2570:Adam1b
|
UTSW |
5 |
121,639,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3020:Adam1b
|
UTSW |
5 |
121,639,446 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4573:Adam1b
|
UTSW |
5 |
121,638,856 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4574:Adam1b
|
UTSW |
5 |
121,638,856 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5023:Adam1b
|
UTSW |
5 |
121,639,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Adam1b
|
UTSW |
5 |
121,638,946 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6585:Adam1b
|
UTSW |
5 |
121,639,250 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6600:Adam1b
|
UTSW |
5 |
121,639,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Adam1b
|
UTSW |
5 |
121,639,056 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7549:Adam1b
|
UTSW |
5 |
121,639,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Adam1b
|
UTSW |
5 |
121,639,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8024:Adam1b
|
UTSW |
5 |
121,638,986 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8306:Adam1b
|
UTSW |
5 |
121,641,212 (GRCm39) |
intron |
probably benign |
|
|
R8409:Adam1b
|
UTSW |
5 |
121,639,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8552:Adam1b
|
UTSW |
5 |
121,639,504 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9027:Adam1b
|
UTSW |
5 |
121,640,788 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTCTTTGCAGTCGGGAG -3'
(R):5'- TCGAGAGGAGACCAGTTTGG -3'
Sequencing Primer
(F):5'- TCGGGAGGTGCAAAGCC -3'
(R):5'- AGTTTGGAAACTGTGGCTCCTCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation