Incidental Mutation 'R8409:Adam1b'
| ID |
652572 |
| 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 |
067766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121638161-121641498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 121639540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 502
(N502H)
|
| 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: N502H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: N502H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,953,495 (GRCm39) |
S2082R |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,453,544 (GRCm39) |
T1636A |
probably benign |
Het |
| Cep83 |
C |
T |
10: 94,573,839 (GRCm39) |
Q243* |
probably null |
Het |
| Dlg5 |
T |
G |
14: 24,226,546 (GRCm39) |
E452A |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,208 (GRCm39) |
D760E |
probably damaging |
Het |
| Elob |
G |
A |
17: 24,043,933 (GRCm39) |
R89C |
probably benign |
Het |
| En2 |
T |
C |
5: 28,371,882 (GRCm39) |
S120P |
probably benign |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Extl2 |
G |
T |
3: 115,820,911 (GRCm39) |
V253F |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,881 (GRCm39) |
E92G |
probably benign |
Het |
| Fbxo25 |
A |
T |
8: 13,964,999 (GRCm39) |
K17* |
probably null |
Het |
| Fig4 |
A |
T |
10: 41,141,427 (GRCm39) |
S277R |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,659,784 (GRCm39) |
S429P |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,891,297 (GRCm39) |
I177V |
probably benign |
Het |
| H13 |
C |
T |
2: 152,531,813 (GRCm39) |
P239L |
possibly damaging |
Het |
| Il12rb1 |
T |
A |
8: 71,269,187 (GRCm39) |
S456T |
possibly damaging |
Het |
| Irgq |
A |
G |
7: 24,233,209 (GRCm39) |
D350G |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,449,784 (GRCm39) |
S118P |
possibly damaging |
Het |
| Itpka |
C |
T |
2: 119,580,341 (GRCm39) |
R329C |
probably damaging |
Het |
| Itpripl1 |
G |
T |
2: 126,982,686 (GRCm39) |
Q479K |
probably benign |
Het |
| Kbtbd2 |
T |
C |
6: 56,757,341 (GRCm39) |
N132D |
probably damaging |
Het |
| Klb |
T |
C |
5: 65,536,878 (GRCm39) |
V736A |
probably damaging |
Het |
| Klhl3 |
T |
C |
13: 58,167,242 (GRCm39) |
D374G |
probably damaging |
Het |
| Mmp14 |
T |
A |
14: 54,678,125 (GRCm39) |
V582D |
probably damaging |
Het |
| Naalad2 |
A |
G |
9: 18,242,134 (GRCm39) |
V590A |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,197 (GRCm39) |
T50A |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,477 (GRCm39) |
M4K |
probably benign |
Het |
| Or7h8 |
T |
G |
9: 20,123,542 (GRCm39) |
|
probably benign |
Het |
| Pianp |
T |
C |
6: 124,976,214 (GRCm39) |
S8P |
unknown |
Het |
| Ppbp |
T |
C |
5: 90,916,486 (GRCm39) |
S9P |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,752 (GRCm39) |
I696T |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,760,856 (GRCm39) |
S27P |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,086,897 (GRCm39) |
R1561S |
|
Het |
| Rassf8 |
A |
G |
6: 145,761,429 (GRCm39) |
T252A |
probably benign |
Het |
| Rpe65 |
T |
A |
3: 159,319,785 (GRCm39) |
D218E |
probably benign |
Het |
| Sec23ip |
G |
A |
7: 128,365,855 (GRCm39) |
V575I |
probably damaging |
Het |
| Slc38a3 |
G |
A |
9: 107,536,454 (GRCm39) |
|
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 97,003,663 (GRCm39) |
C495Y |
probably damaging |
Het |
| Speer4f2 |
C |
A |
5: 17,582,419 (GRCm39) |
T214K |
|
Het |
| Stox1 |
A |
G |
10: 62,501,795 (GRCm39) |
L255P |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,786,363 (GRCm39) |
M989V |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,402,452 (GRCm39) |
Y202N |
possibly damaging |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
C |
11: 23,407,811 (GRCm39) |
S2593P |
|
Het |
| Vmn2r85 |
A |
G |
10: 130,261,257 (GRCm39) |
V360A |
probably benign |
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 |
|
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 |
|
|
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'- GGAAGGCCACCTCTGTACATATAAG -3'
(R):5'- TGAAGGGCAACTCAGTGTGC -3'
Sequencing Primer
(F):5'- GGCCACCTCTGTACATATAAGTTTCC -3'
(R):5'- GTGCAGCACTGAACTTTGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation