Incidental Mutation 'R6777:Adam7'
| ID |
531348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam7
|
| Ensembl Gene |
ENSMUSG00000022056 |
| Gene Name |
a disintegrin and metallopeptidase domain 7 |
| Synonyms |
EAP1 |
| MMRRC Submission |
044893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6777 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
68734785-68771138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68762784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 147
(Y147C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022640]
|
| AlphaFold |
O35227 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022640
AA Change: Y147C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: Y147C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
25 |
156 |
1.6e-28 |
PFAM |
|
Pfam:Reprolysin_5
|
197 |
378 |
1.2e-12 |
PFAM |
|
Pfam:Reprolysin_4
|
197 |
382 |
2.6e-12 |
PFAM |
|
Pfam:Reprolysin
|
199 |
393 |
1.3e-70 |
PFAM |
|
Pfam:Reprolysin_2
|
219 |
383 |
1.1e-9 |
PFAM |
|
Pfam:Reprolysin_3
|
223 |
346 |
9.5e-14 |
PFAM |
|
DISIN
|
410 |
485 |
8.79e-30 |
SMART |
|
ACR
|
486 |
623 |
3.51e-58 |
SMART |
|
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2029 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is specifically expressed in epididymis where the encoded protein is transferred to the sperm surface during epididymal transit. This gene is located adjacent to a related gene from the ADAM family of proteins on chromosome 14. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility with decreased cell height in caput epididymis, spermatic granuloma, kinked sperm flagellum and reduced sperm motility. [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 |
|---|
| 2900092C05Rik |
A |
T |
7: 12,246,756 (GRCm39) |
L45F |
probably benign |
Het |
| Adss2 |
A |
T |
1: 177,603,902 (GRCm39) |
|
probably null |
Het |
| Atp2c1 |
T |
A |
9: 105,295,799 (GRCm39) |
I812L |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,297,742 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
G |
16: 59,378,678 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
C |
G |
5: 136,594,422 (GRCm39) |
|
probably benign |
Het |
| Dkk2 |
T |
A |
3: 131,879,572 (GRCm39) |
C84S |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,914,086 (GRCm39) |
V128A |
probably benign |
Het |
| Fzr1 |
A |
G |
10: 81,206,327 (GRCm39) |
Y148H |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Ganc |
A |
G |
2: 120,274,630 (GRCm39) |
T584A |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,110,912 (GRCm39) |
T564A |
probably damaging |
Het |
| Gm49359 |
A |
T |
13: 62,603,006 (GRCm39) |
C65S |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,810,519 (GRCm39) |
Y175H |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,431 (GRCm39) |
D60G |
probably benign |
Het |
| Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,672,358 (GRCm39) |
C694S |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,353,446 (GRCm39) |
F676L |
probably benign |
Het |
| Pla2g2c |
T |
C |
4: 138,470,976 (GRCm39) |
V119A |
probably benign |
Het |
| Ralgps2 |
A |
G |
1: 156,715,515 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,118,069 (GRCm39) |
K90E |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,482,202 (GRCm39) |
Y620C |
probably damaging |
Het |
| Smg1 |
C |
A |
7: 117,788,340 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,153,730 (GRCm39) |
V198E |
probably damaging |
Het |
| Ssx2ip |
C |
T |
3: 146,144,476 (GRCm39) |
T580M |
possibly damaging |
Het |
| Terf2 |
A |
G |
8: 107,797,169 (GRCm39) |
V434A |
possibly damaging |
Het |
| Tmem242 |
G |
A |
17: 5,483,830 (GRCm39) |
P71S |
probably damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,247,399 (GRCm39) |
R254* |
probably null |
Het |
| Trgv3 |
A |
G |
13: 19,427,450 (GRCm39) |
Y111C |
probably damaging |
Het |
|
| Other mutations in Adam7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00667:Adam7
|
APN |
14 |
68,759,387 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01418:Adam7
|
APN |
14 |
68,762,655 (GRCm39) |
missense |
probably benign |
|
|
IGL01934:Adam7
|
APN |
14 |
68,770,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02655:Adam7
|
APN |
14 |
68,754,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02669:Adam7
|
APN |
14 |
68,745,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Adam7
|
UTSW |
14 |
68,747,197 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0195:Adam7
|
UTSW |
14 |
68,765,076 (GRCm39) |
splice site |
probably benign |
|
|
R0277:Adam7
|
UTSW |
14 |
68,748,306 (GRCm39) |
splice site |
probably null |
|
|
R0362:Adam7
|
UTSW |
14 |
68,747,105 (GRCm39) |
splice site |
probably benign |
|
|
R0440:Adam7
|
UTSW |
14 |
68,748,305 (GRCm39) |
splice site |
probably null |
|
|
R0927:Adam7
|
UTSW |
14 |
68,754,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1172:Adam7
|
UTSW |
14 |
68,752,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Adam7
|
UTSW |
14 |
68,765,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1299:Adam7
|
UTSW |
14 |
68,763,748 (GRCm39) |
splice site |
probably benign |
|
|
R1527:Adam7
|
UTSW |
14 |
68,738,970 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1543:Adam7
|
UTSW |
14 |
68,759,371 (GRCm39) |
splice site |
probably benign |
|
|
R1731:Adam7
|
UTSW |
14 |
68,762,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Adam7
|
UTSW |
14 |
68,735,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1921:Adam7
|
UTSW |
14 |
68,750,074 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2062:Adam7
|
UTSW |
14 |
68,742,610 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2156:Adam7
|
UTSW |
14 |
68,748,792 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2353:Adam7
|
UTSW |
14 |
68,742,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2697:Adam7
|
UTSW |
14 |
68,752,232 (GRCm39) |
nonsense |
probably null |
|
|
R4080:Adam7
|
UTSW |
14 |
68,757,988 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4775:Adam7
|
UTSW |
14 |
68,745,361 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5202:Adam7
|
UTSW |
14 |
68,745,305 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6006:Adam7
|
UTSW |
14 |
68,748,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6087:Adam7
|
UTSW |
14 |
68,748,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Adam7
|
UTSW |
14 |
68,742,546 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6417:Adam7
|
UTSW |
14 |
68,742,070 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6672:Adam7
|
UTSW |
14 |
68,742,151 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6756:Adam7
|
UTSW |
14 |
68,762,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6913:Adam7
|
UTSW |
14 |
68,771,100 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7127:Adam7
|
UTSW |
14 |
68,752,218 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7209:Adam7
|
UTSW |
14 |
68,767,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Adam7
|
UTSW |
14 |
68,741,915 (GRCm39) |
splice site |
probably null |
|
|
R7675:Adam7
|
UTSW |
14 |
68,737,302 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7788:Adam7
|
UTSW |
14 |
68,750,094 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7868:Adam7
|
UTSW |
14 |
68,770,090 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8135:Adam7
|
UTSW |
14 |
68,754,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8281:Adam7
|
UTSW |
14 |
68,745,334 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8507:Adam7
|
UTSW |
14 |
68,763,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9049:Adam7
|
UTSW |
14 |
68,762,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9240:Adam7
|
UTSW |
14 |
68,747,208 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9429:Adam7
|
UTSW |
14 |
68,771,080 (GRCm39) |
missense |
probably null |
|
|
R9744:Adam7
|
UTSW |
14 |
68,742,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Adam7
|
UTSW |
14 |
68,765,150 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCGGGACTGCTGGAACAC -3'
(R):5'- CTTCTAGAATTGCTGACTCACTGAG -3'
Sequencing Primer
(F):5'- AATCAGAAGTGTTTTCTTCCTGAGG -3'
(R):5'- ACTGAGAGGCCACAGTGCTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation