Incidental Mutation 'R7708:Adam24'
| ID |
594403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam24
|
| Ensembl Gene |
ENSMUSG00000046723 |
| Gene Name |
ADAM metallopeptidase domain 24 |
| Synonyms |
Dtgn5 |
| MMRRC Submission |
045709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R7708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41128118-41135238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41133558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 342
(H342R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051614]
|
| AlphaFold |
Q9R160 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051614
AA Change: H342R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: H342R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
160 |
3.3e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
193 |
389 |
6.3e-13 |
PFAM |
|
Pfam:Reprolysin
|
208 |
398 |
7.8e-43 |
PFAM |
|
Pfam:Reprolysin_5
|
209 |
382 |
3e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
209 |
392 |
4.9e-13 |
PFAM |
|
Pfam:Reprolysin_3
|
232 |
353 |
9.9e-16 |
PFAM |
|
DISIN
|
415 |
491 |
7.13e-39 |
SMART |
|
ACR
|
492 |
628 |
7.74e-69 |
SMART |
|
transmembrane domain
|
698 |
720 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (46/46) |
| 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 expressed in a regulated fashion during spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. Male mice lacking the encoded protein exhibit reduced fertility due to the higher incidence of polyspermic embryos. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile and produce an increased number of polyspermic embryos at the pronuclear stage. Female homozygotes show normal fertility. [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 |
|---|
| Aadacl2fm3 |
A |
G |
3: 59,772,756 (GRCm39) |
S87G |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,024,721 (GRCm39) |
Y315C |
probably damaging |
Het |
| Atp10b |
C |
A |
11: 43,092,970 (GRCm39) |
T435K |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
| Bspry |
G |
T |
4: 62,414,337 (GRCm39) |
C310F |
probably benign |
Het |
| Camk2d |
A |
T |
3: 126,391,089 (GRCm39) |
M1L |
probably benign |
Het |
| Clock |
T |
A |
5: 76,414,256 (GRCm39) |
S19C |
probably benign |
Het |
| Cxxc1 |
G |
T |
18: 74,349,314 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
G |
C |
11: 104,855,397 (GRCm39) |
D3816H |
unknown |
Het |
| Ercc6l2 |
T |
A |
13: 63,989,328 (GRCm39) |
C176* |
probably null |
Het |
| Fkbp5 |
A |
G |
17: 28,657,071 (GRCm39) |
F49L |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,974,962 (GRCm39) |
D67V |
|
Het |
| Gpatch2 |
A |
G |
1: 186,964,963 (GRCm39) |
I297V |
probably benign |
Het |
| Gpr135 |
T |
G |
12: 72,116,733 (GRCm39) |
I345L |
probably benign |
Het |
| Gpr89 |
G |
A |
3: 96,787,941 (GRCm39) |
T271I |
possibly damaging |
Het |
| Hip1r |
T |
A |
5: 124,135,532 (GRCm39) |
S503T |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,317,753 (GRCm39) |
C2076* |
probably null |
Het |
| Hoxa2 |
A |
G |
6: 52,141,542 (GRCm39) |
V28A |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,573,991 (GRCm39) |
V765A |
unknown |
Het |
| Krt87 |
T |
C |
15: 101,385,813 (GRCm39) |
M261V |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,554 (GRCm39) |
Y166H |
probably damaging |
Het |
| Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
| Or4f52 |
T |
C |
2: 111,061,863 (GRCm39) |
I92V |
probably damaging |
Het |
| Or52e19 |
T |
C |
7: 102,959,768 (GRCm39) |
L280P |
probably damaging |
Het |
| Or5p80 |
C |
T |
7: 108,230,048 (GRCm39) |
P283L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,300 (GRCm39) |
M94T |
probably damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,681 (GRCm39) |
T213S |
probably damaging |
Het |
| Or8s16 |
A |
T |
15: 98,211,029 (GRCm39) |
M134K |
probably damaging |
Het |
| Orm3 |
A |
T |
4: 63,276,050 (GRCm39) |
E154V |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,804,496 (GRCm39) |
I780N |
possibly damaging |
Het |
| Phf21a |
T |
C |
2: 92,157,511 (GRCm39) |
|
probably null |
Het |
| Polh |
G |
T |
17: 46,483,626 (GRCm39) |
D546E |
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,998,502 (GRCm39) |
D204G |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rpl7l1 |
A |
G |
17: 47,090,271 (GRCm39) |
V121A |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,113,546 (GRCm39) |
T302A |
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,313,512 (GRCm39) |
V1134I |
possibly damaging |
Het |
| Slc10a6 |
C |
T |
5: 103,777,128 (GRCm39) |
|
probably benign |
Het |
| Tmprss11f |
C |
T |
5: 86,672,028 (GRCm39) |
G388D |
probably damaging |
Het |
| Tnf |
A |
C |
17: 35,419,134 (GRCm39) |
V232G |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,283,845 (GRCm39) |
G302D |
probably benign |
Het |
| Trbj1-7 |
T |
G |
6: 41,512,617 (GRCm39) |
Y14* |
probably null |
Het |
| Vmn1r217 |
T |
C |
13: 23,298,269 (GRCm39) |
H211R |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,755 (GRCm39) |
H73L |
possibly damaging |
Het |
| Zfp827 |
T |
C |
8: 79,902,591 (GRCm39) |
L835S |
probably damaging |
Het |
|
| Other mutations in Adam24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02479:Adam24
|
APN |
8 |
41,132,571 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02517:Adam24
|
APN |
8 |
41,133,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Adam24
|
UTSW |
8 |
41,134,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1067:Adam24
|
UTSW |
8 |
41,133,793 (GRCm39) |
nonsense |
probably null |
|
|
R1180:Adam24
|
UTSW |
8 |
41,134,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1438:Adam24
|
UTSW |
8 |
41,134,431 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1741:Adam24
|
UTSW |
8 |
41,132,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1779:Adam24
|
UTSW |
8 |
41,134,004 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1940:Adam24
|
UTSW |
8 |
41,134,400 (GRCm39) |
nonsense |
probably null |
|
|
R2228:Adam24
|
UTSW |
8 |
41,133,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2229:Adam24
|
UTSW |
8 |
41,133,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2265:Adam24
|
UTSW |
8 |
41,133,110 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2359:Adam24
|
UTSW |
8 |
41,133,984 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3551:Adam24
|
UTSW |
8 |
41,132,632 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3837:Adam24
|
UTSW |
8 |
41,133,584 (GRCm39) |
missense |
probably benign |
|
|
R4834:Adam24
|
UTSW |
8 |
41,132,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Adam24
|
UTSW |
8 |
41,132,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Adam24
|
UTSW |
8 |
41,134,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5787:Adam24
|
UTSW |
8 |
41,133,941 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5900:Adam24
|
UTSW |
8 |
41,134,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6600:Adam24
|
UTSW |
8 |
41,133,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6633:Adam24
|
UTSW |
8 |
41,133,526 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6672:Adam24
|
UTSW |
8 |
41,134,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6904:Adam24
|
UTSW |
8 |
41,134,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Adam24
|
UTSW |
8 |
41,133,039 (GRCm39) |
nonsense |
probably null |
|
|
R7542:Adam24
|
UTSW |
8 |
41,133,848 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7578:Adam24
|
UTSW |
8 |
41,133,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8739:Adam24
|
UTSW |
8 |
41,133,480 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8823:Adam24
|
UTSW |
8 |
41,133,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9282:Adam24
|
UTSW |
8 |
41,133,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9434:Adam24
|
UTSW |
8 |
41,133,284 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9508:Adam24
|
UTSW |
8 |
41,132,941 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9591:Adam24
|
UTSW |
8 |
41,132,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0010:Adam24
|
UTSW |
8 |
41,133,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTTTGTACGTGGAAGGGAAC -3'
(R):5'- TCCCACAGACCTTCAATTGG -3'
Sequencing Primer
(F):5'- GGGAACAAACCTTGATTCTCAG -3'
(R):5'- AATATCAGAAGGTCTGGGCTCTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation