Incidental Mutation 'R3020:Adam1b'
ID |
257725 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3020 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
121638161-121641498 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 121639446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 533
(S533L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079368]
[ENSMUST00000111795]
[ENSMUST00000156080]
|
AlphaFold |
Q8R534 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079368
AA Change: S533L
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000078343 Gene: ENSMUSG00000062438 AA Change: S533L
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
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: 9 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Chrnb3 |
G |
A |
8: 27,886,812 (GRCm39) |
R447H |
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,591,455 (GRCm39) |
F204S |
probably damaging |
Het |
Ifnlr1 |
AGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGA |
4: 135,433,041 (GRCm39) |
|
probably benign |
Het |
Polr1b |
A |
G |
2: 128,957,601 (GRCm39) |
D552G |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Tex15 |
T |
C |
8: 34,066,698 (GRCm39) |
F2043L |
probably damaging |
Het |
Vamp8 |
A |
G |
6: 72,365,330 (GRCm39) |
I26T |
possibly damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
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 |
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 |
R6553:Adam1b
|
UTSW |
5 |
121,639,250 (GRCm39) |
missense |
probably benign |
0.05 |
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'- GGAGGGAATCTCTCATGTCAAAC -3'
(R):5'- CCTGGAAGAATACTGCAATGGG -3'
Sequencing Primer
(F):5'- GGGAATCTCTCATGTCAAACACAGC -3'
(R):5'- GAATACTGCAATGGGACCTCTGC -3'
|
Posted On |
2015-01-11 |