Incidental Mutation 'R8681:Adam32'
| ID |
661750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam32
|
| Ensembl Gene |
ENSMUSG00000037437 |
| Gene Name |
a disintegrin and metallopeptidase domain 32 |
| Synonyms |
|
| MMRRC Submission |
068536-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25326156-25438820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25327811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 750
(T750I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119720]
[ENSMUST00000121438]
[ENSMUST00000173069]
[ENSMUST00000173559]
|
| AlphaFold |
Q8K410 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119720
|
| SMART Domains |
Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
32 |
145 |
4.5e-32 |
PFAM |
|
Pfam:Reprolysin
|
187 |
384 |
4.1e-66 |
PFAM |
|
Pfam:Reprolysin_3
|
211 |
318 |
6.2e-7 |
PFAM |
|
DISIN
|
400 |
481 |
2.69e-16 |
SMART |
|
ACR
|
482 |
622 |
6.83e-38 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000121438
AA Change: T750I
|
| SMART Domains |
Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: T750I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
24 |
145 |
8.4e-26 |
PFAM |
|
Pfam:Reprolysin
|
187 |
384 |
1.3e-68 |
PFAM |
|
DISIN
|
400 |
481 |
2.69e-16 |
SMART |
|
ACR
|
482 |
622 |
6.83e-38 |
SMART |
|
EGF
|
631 |
660 |
1.73e0 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
754 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140573
|
| SMART Domains |
Protein: ENSMUSP00000133843
Gene: ENSMUSG00000037437
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DISIN
|
2 |
22 |
5e-7 |
BLAST |
|
Pfam:ADAM_CR
|
24 |
71 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173069
|
| SMART Domains |
Protein: ENSMUSP00000133631
Gene: ENSMUSG00000037437
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ACR
|
1 |
46 |
7e-25 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173559
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene was found to be expressed predominantly in the pachytene spermatocytes, where the processed protein is localized to the sperm surface. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,231,908 (GRCm39) |
V1347A |
possibly damaging |
Het |
| Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,817,899 (GRCm39) |
D438G |
probably null |
Het |
| Anks1b |
T |
A |
10: 89,885,868 (GRCm39) |
M188K |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,338,373 (GRCm39) |
F583S |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,439,074 (GRCm39) |
Y477C |
unknown |
Het |
| Cep112 |
T |
C |
11: 108,316,478 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,406 (GRCm39) |
V422A |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,038,600 (GRCm39) |
L1050P |
probably damaging |
Het |
| Col23a1 |
A |
T |
11: 51,458,756 (GRCm39) |
T298S |
possibly damaging |
Het |
| Cyp26c1 |
A |
T |
19: 37,675,065 (GRCm39) |
T129S |
probably damaging |
Het |
| Cyp2c38 |
A |
C |
19: 39,390,135 (GRCm39) |
V355G |
possibly damaging |
Het |
| Cyp4a30b |
G |
A |
4: 115,314,942 (GRCm39) |
V175M |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,886,913 (GRCm39) |
Y67* |
probably null |
Het |
| Dll3 |
T |
C |
7: 27,994,270 (GRCm39) |
D389G |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,265,830 (GRCm39) |
F146L |
probably benign |
Het |
| Gm10118 |
C |
T |
10: 63,762,756 (GRCm39) |
V61M |
unknown |
Het |
| Gm9611 |
T |
C |
14: 42,118,026 (GRCm39) |
D102G |
|
Het |
| Grik5 |
G |
A |
7: 24,709,897 (GRCm39) |
A946V |
probably benign |
Het |
| Il17c |
A |
G |
8: 123,150,207 (GRCm39) |
D150G |
possibly damaging |
Het |
| Ino80e |
A |
G |
7: 126,460,893 (GRCm39) |
L22P |
probably damaging |
Het |
| Kcnh2 |
G |
T |
5: 24,536,981 (GRCm39) |
T201K |
probably benign |
Het |
| Klrb1 |
A |
C |
6: 128,687,012 (GRCm39) |
N173K |
possibly damaging |
Het |
| Kmt2d |
T |
A |
15: 98,743,948 (GRCm39) |
Q3737H |
unknown |
Het |
| Lemd3 |
T |
C |
10: 120,767,728 (GRCm39) |
D682G |
possibly damaging |
Het |
| Lilra5 |
T |
C |
7: 4,241,216 (GRCm39) |
V51A |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,070,314 (GRCm39) |
V32I |
possibly damaging |
Het |
| Mdh1b |
T |
A |
1: 63,754,360 (GRCm39) |
M403L |
probably benign |
Het |
| Mms19 |
G |
A |
19: 41,937,915 (GRCm39) |
L765F |
probably damaging |
Het |
| Msx3 |
T |
A |
7: 139,628,900 (GRCm39) |
T5S |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,242,960 (GRCm39) |
I958L |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 113,021,429 (GRCm39) |
|
probably null |
Het |
| Myo9a |
G |
A |
9: 59,775,394 (GRCm39) |
V1002I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,127,048 (GRCm39) |
K379R |
probably damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,473,208 (GRCm39) |
S216G |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,263 (GRCm39) |
E246G |
probably damaging |
Het |
| Or11h7 |
A |
T |
14: 50,890,801 (GRCm39) |
M36L |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pkp2 |
A |
T |
16: 16,048,545 (GRCm39) |
M317L |
probably benign |
Het |
| Pogz |
T |
A |
3: 94,768,234 (GRCm39) |
H137Q |
probably damaging |
Het |
| Prrx2 |
G |
T |
2: 30,735,519 (GRCm39) |
D25Y |
unknown |
Het |
| Ptprf |
T |
C |
4: 118,088,844 (GRCm39) |
D653G |
probably benign |
Het |
| Rps6kl1 |
T |
A |
12: 85,194,629 (GRCm39) |
E94V |
probably damaging |
Het |
| Slc44a1 |
A |
T |
4: 53,481,510 (GRCm39) |
D27V |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,147,253 (GRCm39) |
I549V |
possibly damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,361,914 (GRCm39) |
T302A |
probably benign |
Het |
| Spic |
T |
A |
10: 88,511,847 (GRCm39) |
K136N |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,392 (GRCm39) |
L473P |
probably damaging |
Het |
| Syce1 |
G |
A |
7: 140,361,987 (GRCm39) |
T32I |
possibly damaging |
Het |
| Tars2 |
G |
A |
3: 95,658,199 (GRCm39) |
Q209* |
probably null |
Het |
| Tmem9b |
A |
G |
7: 109,344,527 (GRCm39) |
V100A |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,128 (GRCm39) |
I131V |
probably benign |
Het |
| Vmn2r26 |
C |
T |
6: 124,001,877 (GRCm39) |
T54I |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,747 (GRCm39) |
E1016G |
probably damaging |
Het |
| Zfp773 |
T |
C |
7: 7,139,482 (GRCm39) |
T56A |
possibly damaging |
Het |
|
| Other mutations in Adam32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Adam32
|
APN |
8 |
25,411,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00793:Adam32
|
APN |
8 |
25,327,846 (GRCm39) |
splice site |
probably benign |
|
|
IGL01317:Adam32
|
APN |
8 |
25,362,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01475:Adam32
|
APN |
8 |
25,362,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01501:Adam32
|
APN |
8 |
25,404,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01659:Adam32
|
APN |
8 |
25,360,790 (GRCm39) |
splice site |
probably benign |
|
|
IGL01994:Adam32
|
APN |
8 |
25,392,812 (GRCm39) |
splice site |
probably benign |
|
|
IGL02137:Adam32
|
APN |
8 |
25,362,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02393:Adam32
|
APN |
8 |
25,410,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Adam32
|
APN |
8 |
25,388,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Adam32
|
APN |
8 |
25,368,727 (GRCm39) |
intron |
probably benign |
|
|
IGL02929:Adam32
|
APN |
8 |
25,362,659 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03273:Adam32
|
APN |
8 |
25,411,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Adam32
|
UTSW |
8 |
25,404,342 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0088:Adam32
|
UTSW |
8 |
25,404,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Adam32
|
UTSW |
8 |
25,404,405 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0098:Adam32
|
UTSW |
8 |
25,404,405 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0189:Adam32
|
UTSW |
8 |
25,412,353 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1740:Adam32
|
UTSW |
8 |
25,411,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Adam32
|
UTSW |
8 |
25,388,642 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2090:Adam32
|
UTSW |
8 |
25,391,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2906:Adam32
|
UTSW |
8 |
25,353,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Adam32
|
UTSW |
8 |
25,353,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4304:Adam32
|
UTSW |
8 |
25,391,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Adam32
|
UTSW |
8 |
25,362,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4673:Adam32
|
UTSW |
8 |
25,374,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Adam32
|
UTSW |
8 |
25,353,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Adam32
|
UTSW |
8 |
25,354,467 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5398:Adam32
|
UTSW |
8 |
25,362,595 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5524:Adam32
|
UTSW |
8 |
25,412,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5939:Adam32
|
UTSW |
8 |
25,404,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6350:Adam32
|
UTSW |
8 |
25,353,445 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6766:Adam32
|
UTSW |
8 |
25,362,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6893:Adam32
|
UTSW |
8 |
25,368,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Adam32
|
UTSW |
8 |
25,404,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Adam32
|
UTSW |
8 |
25,388,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7457:Adam32
|
UTSW |
8 |
25,374,635 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7864:Adam32
|
UTSW |
8 |
25,412,292 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8083:Adam32
|
UTSW |
8 |
25,362,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Adam32
|
UTSW |
8 |
25,391,486 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8376:Adam32
|
UTSW |
8 |
25,409,936 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9154:Adam32
|
UTSW |
8 |
25,438,769 (GRCm39) |
small deletion |
probably benign |
|
|
R9391:Adam32
|
UTSW |
8 |
25,374,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Adam32
|
UTSW |
8 |
25,438,766 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGATAAGAGCAAGTCCCAGAAC -3'
(R):5'- AGACTCACAATGCTAACCTTTGG -3'
Sequencing Primer
(F):5'- AGTCCCAGAACACTTAAACTATTTC -3'
(R):5'- CACAATGCTAACCTTTGGTATAACG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation