Incidental Mutation 'R9541:Adam21'
| ID |
719891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam21
|
| Ensembl Gene |
ENSMUSG00000008438 |
| Gene Name |
a disintegrin and metallopeptidase domain 21 |
| Synonyms |
ADAM31 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81605358-81615248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81607724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 13
(T13A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008582]
|
| AlphaFold |
Q9JI76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008582
AA Change: T13A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: T13A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
39 |
164 |
5.1e-21 |
PFAM |
|
Pfam:Reprolysin_4
|
212 |
389 |
2.5e-11 |
PFAM |
|
Pfam:Reprolysin
|
212 |
402 |
7.3e-50 |
PFAM |
|
Pfam:Reprolysin_5
|
214 |
400 |
5.8e-19 |
PFAM |
|
Pfam:Reprolysin_2
|
233 |
393 |
1.3e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
236 |
356 |
6.5e-16 |
PFAM |
|
DISIN
|
419 |
494 |
2.45e-37 |
SMART |
|
ACR
|
495 |
631 |
6.49e-62 |
SMART |
|
EGF
|
637 |
667 |
2.03e1 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.5%
|
| Validation Efficiency |
|
| 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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. The encoded protein functions in the regulation of spermatogenesis in the testes and neurogenesis in the central nervous system. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,801,079 (GRCm39) |
I450V |
probably benign |
Het |
| Adamts4 |
C |
A |
1: 171,084,695 (GRCm39) |
P644H |
probably damaging |
Het |
| Ak9 |
C |
T |
10: 41,243,173 (GRCm39) |
A689V |
|
Het |
| Ankhd1 |
G |
A |
18: 36,757,697 (GRCm39) |
S209N |
|
Het |
| Anks1b |
A |
T |
10: 90,412,947 (GRCm39) |
T32S |
probably benign |
Het |
| Atp13a4 |
G |
T |
16: 29,241,544 (GRCm39) |
T708K |
|
Het |
| B4gat1 |
C |
T |
19: 5,089,896 (GRCm39) |
P298S |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,439,438 (GRCm39) |
L583P |
possibly damaging |
Het |
| Ciart |
C |
A |
3: 95,788,527 (GRCm39) |
C104F |
possibly damaging |
Het |
| Coq5 |
T |
C |
5: 115,417,901 (GRCm39) |
S44P |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,899,872 (GRCm39) |
V1175A |
probably benign |
Het |
| Filip1 |
T |
A |
9: 79,727,135 (GRCm39) |
K495* |
probably null |
Het |
| Fscn2 |
G |
A |
11: 120,258,771 (GRCm39) |
V439M |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,754,416 (GRCm39) |
I2339V |
probably benign |
Het |
| Gmppa |
T |
A |
1: 75,417,094 (GRCm39) |
S176R |
probably damaging |
Het |
| Gpatch3 |
G |
A |
4: 133,305,595 (GRCm39) |
E277K |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,767,685 (GRCm39) |
D1082G |
probably damaging |
Het |
| Hdgfl2 |
T |
A |
17: 56,405,976 (GRCm39) |
D487E |
unknown |
Het |
| Ifna14 |
A |
T |
4: 88,490,010 (GRCm39) |
M9K |
probably null |
Het |
| Igkv4-81 |
A |
G |
6: 68,967,925 (GRCm39) |
Y59H |
|
Het |
| Il2rb |
T |
A |
15: 78,372,393 (GRCm39) |
N108I |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Kdm5d |
T |
G |
Y: 910,801 (GRCm39) |
C304W |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,109 (GRCm39) |
I121T |
possibly damaging |
Het |
| Lmcd1 |
A |
T |
6: 112,306,824 (GRCm39) |
H332L |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,234,600 (GRCm39) |
D1117G |
|
Het |
| Med25 |
A |
G |
7: 44,541,267 (GRCm39) |
V82A |
possibly damaging |
Het |
| Mindy2 |
G |
A |
9: 70,512,508 (GRCm39) |
R581C |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,391,449 (GRCm39) |
T257A |
probably damaging |
Het |
| Myo1e |
A |
T |
9: 70,204,628 (GRCm39) |
Y76F |
probably damaging |
Het |
| Npas2 |
A |
T |
1: 39,377,194 (GRCm39) |
I519F |
possibly damaging |
Het |
| Or2h2c |
C |
T |
17: 37,422,824 (GRCm39) |
D17N |
probably benign |
Het |
| Or4f52 |
T |
A |
2: 111,061,275 (GRCm39) |
T288S |
probably damaging |
Het |
| Or5ak25 |
T |
A |
2: 85,269,025 (GRCm39) |
H159L |
possibly damaging |
Het |
| Otx1 |
A |
G |
11: 21,947,052 (GRCm39) |
F86L |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,780,616 (GRCm39) |
D1856G |
probably benign |
Het |
| Pcsk7 |
G |
A |
9: 45,820,768 (GRCm39) |
E67K |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,607,927 (GRCm39) |
Y142C |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,266,740 (GRCm39) |
D236G |
probably benign |
Het |
| Rasd2 |
T |
C |
8: 75,945,200 (GRCm39) |
C10R |
probably benign |
Het |
| Rd3 |
C |
A |
1: 191,717,294 (GRCm39) |
R140S |
possibly damaging |
Het |
| Rusc1 |
T |
G |
3: 88,998,922 (GRCm39) |
T287P |
possibly damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,749,084 (GRCm39) |
S78G |
probably damaging |
Het |
| Sltm |
A |
T |
9: 70,481,057 (GRCm39) |
H303L |
unknown |
Het |
| Syne4 |
G |
A |
7: 30,016,343 (GRCm39) |
V228I |
probably benign |
Het |
| Timm22 |
T |
A |
11: 76,300,641 (GRCm39) |
C138S |
possibly damaging |
Het |
| Trib2 |
T |
A |
12: 15,866,827 (GRCm39) |
I15L |
unknown |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tyro3 |
T |
C |
2: 119,642,589 (GRCm39) |
V591A |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,209 (GRCm39) |
V643A |
probably benign |
Het |
| Zfp281 |
G |
T |
1: 136,555,303 (GRCm39) |
Q760H |
probably damaging |
Het |
|
| Other mutations in Adam21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02186:Adam21
|
APN |
12 |
81,605,983 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02311:Adam21
|
APN |
12 |
81,607,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03132:Adam21
|
APN |
12 |
81,607,148 (GRCm39) |
nonsense |
probably null |
|
|
IGL03225:Adam21
|
APN |
12 |
81,606,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB009:Adam21
|
UTSW |
12 |
81,606,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB019:Adam21
|
UTSW |
12 |
81,606,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0305:Adam21
|
UTSW |
12 |
81,607,059 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0634:Adam21
|
UTSW |
12 |
81,607,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1415:Adam21
|
UTSW |
12 |
81,606,321 (GRCm39) |
nonsense |
probably null |
|
|
R1961:Adam21
|
UTSW |
12 |
81,606,282 (GRCm39) |
nonsense |
probably null |
|
|
R1996:Adam21
|
UTSW |
12 |
81,606,376 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2159:Adam21
|
UTSW |
12 |
81,607,241 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2215:Adam21
|
UTSW |
12 |
81,607,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Adam21
|
UTSW |
12 |
81,606,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Adam21
|
UTSW |
12 |
81,607,583 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4356:Adam21
|
UTSW |
12 |
81,605,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4503:Adam21
|
UTSW |
12 |
81,607,672 (GRCm39) |
missense |
probably benign |
|
|
R4795:Adam21
|
UTSW |
12 |
81,607,748 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4925:Adam21
|
UTSW |
12 |
81,607,163 (GRCm39) |
missense |
probably benign |
|
|
R4932:Adam21
|
UTSW |
12 |
81,605,692 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5110:Adam21
|
UTSW |
12 |
81,606,989 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5831:Adam21
|
UTSW |
12 |
81,605,875 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6289:Adam21
|
UTSW |
12 |
81,607,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Adam21
|
UTSW |
12 |
81,606,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7077:Adam21
|
UTSW |
12 |
81,605,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Adam21
|
UTSW |
12 |
81,607,015 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7173:Adam21
|
UTSW |
12 |
81,606,008 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7176:Adam21
|
UTSW |
12 |
81,607,022 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7232:Adam21
|
UTSW |
12 |
81,607,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7371:Adam21
|
UTSW |
12 |
81,607,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Adam21
|
UTSW |
12 |
81,605,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7522:Adam21
|
UTSW |
12 |
81,605,722 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7918:Adam21
|
UTSW |
12 |
81,607,378 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7932:Adam21
|
UTSW |
12 |
81,606,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8040:Adam21
|
UTSW |
12 |
81,607,211 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8486:Adam21
|
UTSW |
12 |
81,607,550 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8750:Adam21
|
UTSW |
12 |
81,607,247 (GRCm39) |
nonsense |
probably null |
|
|
R8881:Adam21
|
UTSW |
12 |
81,606,650 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9084:Adam21
|
UTSW |
12 |
81,606,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Adam21
|
UTSW |
12 |
81,605,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Adam21
|
UTSW |
12 |
81,607,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Adam21
|
UTSW |
12 |
81,606,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCAACAGCTTCTTGACTCGC -3'
(R):5'- TCCACTTTCAGCACTGCAAC -3'
Sequencing Primer
(F):5'- TCGCATATGGACAACATGTCTACGG -3'
(R):5'- ACTGCAACTCTGATGCTCAGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation