Incidental Mutation 'R6585:Adam1b'
ID |
524334 |
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 |
044709-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6585 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (30/31) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
C |
T |
5: 109,885,534 (GRCm39) |
C108Y |
probably damaging |
Het |
Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
Chd1l |
A |
G |
3: 97,505,088 (GRCm39) |
F160L |
probably damaging |
Het |
Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
Defa38 |
A |
G |
8: 21,585,248 (GRCm39) |
C65R |
possibly damaging |
Het |
Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Elp2 |
T |
C |
18: 24,758,606 (GRCm39) |
L503S |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
H2bc18 |
A |
T |
3: 96,177,413 (GRCm39) |
T116S |
probably benign |
Het |
Kcnj1 |
T |
C |
9: 32,308,557 (GRCm39) |
V307A |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,552,314 (GRCm39) |
|
probably null |
Het |
Lrp6 |
A |
T |
6: 134,484,521 (GRCm39) |
Y367* |
probably null |
Het |
Ms4a14 |
T |
A |
19: 11,281,009 (GRCm39) |
Q516H |
unknown |
Het |
Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
Or13c3 |
A |
T |
4: 52,856,192 (GRCm39) |
M107K |
possibly damaging |
Het |
Or5ae1 |
A |
T |
7: 84,565,670 (GRCm39) |
I228F |
probably damaging |
Het |
Park7 |
G |
T |
4: 150,989,721 (GRCm39) |
Q80K |
probably benign |
Het |
Pramel15 |
C |
A |
4: 144,103,600 (GRCm39) |
L175F |
possibly damaging |
Het |
Pramel52-ps |
C |
T |
5: 94,529,415 (GRCm39) |
P62S |
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
Rprd1a |
T |
C |
18: 24,639,720 (GRCm39) |
|
probably null |
Het |
Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,006,251 (GRCm39) |
W138R |
probably damaging |
Het |
U2surp |
T |
C |
9: 95,354,124 (GRCm39) |
E838G |
probably damaging |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Usp19 |
G |
T |
9: 108,376,926 (GRCm39) |
L1165F |
probably damaging |
Het |
Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly 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 |
R6553: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'- TCTGAACTCGAGAGGAGACC -3'
Sequencing Primer
(F):5'- TCGGGAGGTGCAAAGCC -3'
(R):5'- AGTTTGGAAACTGTGGCTCCTCC -3'
|
Posted On |
2018-06-22 |