Incidental Mutation 'R9715:Adam20'
| ID |
730405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam20
|
| Ensembl Gene |
ENSMUSG00000046282 |
| Gene Name |
a disintegrin and metallopeptidase domain 20 |
| Synonyms |
4930529F22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9715 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41246310-41250340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41248490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 200
(R200H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056331]
|
| AlphaFold |
Q7M763 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056331
AA Change: R200H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: R200H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
51 |
177 |
1.3e-19 |
PFAM |
|
Pfam:Reprolysin_5
|
219 |
399 |
5.4e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
219 |
408 |
5.4e-11 |
PFAM |
|
Pfam:Reprolysin
|
221 |
411 |
3.1e-45 |
PFAM |
|
Pfam:Reprolysin_3
|
248 |
366 |
2.5e-13 |
PFAM |
|
Pfam:Reprolysin_2
|
295 |
403 |
1e-14 |
PFAM |
|
DISIN
|
429 |
504 |
4.29e-33 |
SMART |
|
ACR
|
505 |
641 |
3.9e-74 |
SMART |
|
transmembrane domain
|
703 |
722 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
C |
T |
7: 45,629,359 (GRCm39) |
V1323I |
probably damaging |
Het |
| Ahnak |
GATCTCTAT |
GAT |
19: 8,984,393 (GRCm39) |
|
probably benign |
Het |
| Cbr3 |
A |
G |
16: 93,481,941 (GRCm39) |
D99G |
probably benign |
Het |
| Ccdc17 |
T |
A |
4: 116,455,090 (GRCm39) |
L215Q |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,751,107 (GRCm39) |
Y2022H |
probably benign |
Het |
| Cimip2c |
G |
C |
5: 30,641,261 (GRCm39) |
D170H |
possibly damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,183,547 (GRCm39) |
S338P |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,787,029 (GRCm39) |
V113D |
possibly damaging |
Het |
| Dhx30 |
A |
G |
9: 109,916,718 (GRCm39) |
F570S |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 101,848,384 (GRCm39) |
N679S |
probably damaging |
Het |
| Faxc |
T |
C |
4: 21,993,307 (GRCm39) |
I317T |
probably damaging |
Het |
| Fgd5 |
T |
C |
6: 91,965,290 (GRCm39) |
Y508H |
possibly damaging |
Het |
| Foxd2 |
G |
T |
4: 114,765,195 (GRCm39) |
A275E |
unknown |
Het |
| Fut9 |
C |
A |
4: 25,620,679 (GRCm39) |
S45I |
probably benign |
Het |
| Gm5148 |
T |
C |
3: 37,768,801 (GRCm39) |
N140D |
unknown |
Het |
| Gpr37l1 |
C |
T |
1: 135,089,391 (GRCm39) |
G225S |
probably damaging |
Het |
| Gramd1c |
G |
A |
16: 43,825,840 (GRCm39) |
S107L |
possibly damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,478,301 (GRCm39) |
D483G |
|
Het |
| Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
| Ino80e |
A |
T |
7: 126,461,098 (GRCm39) |
Y50N |
unknown |
Het |
| Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,566 (GRCm39) |
V390A |
probably benign |
Het |
| Limch1 |
A |
C |
5: 67,156,360 (GRCm39) |
N276H |
probably damaging |
Het |
| Negr1 |
T |
G |
3: 156,774,936 (GRCm39) |
|
probably null |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nlrp14 |
G |
A |
7: 106,781,626 (GRCm39) |
M274I |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,662,943 (GRCm39) |
I17V |
probably benign |
Het |
| Or10ad1b |
T |
A |
15: 98,124,902 (GRCm39) |
D210V |
probably damaging |
Het |
| Or4k35 |
T |
C |
2: 111,100,623 (GRCm39) |
I30V |
probably benign |
Het |
| Or5p64 |
A |
G |
7: 107,855,198 (GRCm39) |
I49T |
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,677,312 (GRCm39) |
V334A |
|
Het |
| Ppp1r9a |
G |
A |
6: 5,045,936 (GRCm39) |
V467I |
probably damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,097,488 (GRCm39) |
I225V |
possibly damaging |
Het |
| Ptpro |
A |
T |
6: 137,345,108 (GRCm39) |
N38I |
probably damaging |
Het |
| Scn2a |
C |
A |
2: 65,579,149 (GRCm39) |
Q1495K |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,519,902 (GRCm39) |
Y1001N |
possibly damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
T |
A |
9: 83,430,513 (GRCm39) |
M1K |
probably null |
Het |
| Slc25a12 |
C |
T |
2: 71,109,899 (GRCm39) |
V516M |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,091,000 (GRCm39) |
L1402P |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Svop |
A |
G |
5: 114,198,169 (GRCm39) |
S135P |
probably benign |
Het |
| Sycp2 |
G |
T |
2: 178,035,957 (GRCm39) |
D243E |
probably damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,706,413 (GRCm39) |
F1030S |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,286,596 (GRCm39) |
N687Y |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,081,759 (GRCm39) |
H1230Q |
|
Het |
| Tfap2b |
T |
C |
1: 19,284,373 (GRCm39) |
S94P |
probably damaging |
Het |
| Tll2 |
C |
A |
19: 41,092,238 (GRCm39) |
G533V |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,402,061 (GRCm39) |
V409A |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,145,373 (GRCm39) |
E194G |
probably damaging |
Het |
| Zan |
G |
T |
5: 137,398,817 (GRCm39) |
S4182R |
unknown |
Het |
| Zfpl1 |
T |
C |
19: 6,134,074 (GRCm39) |
Y40C |
probably damaging |
Het |
| Znrf3 |
C |
A |
11: 5,232,454 (GRCm39) |
R257L |
possibly damaging |
Het |
|
| Other mutations in Adam20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Adam20
|
APN |
8 |
41,249,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01357:Adam20
|
APN |
8 |
41,249,597 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01877:Adam20
|
APN |
8 |
41,248,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02295:Adam20
|
APN |
8 |
41,249,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02683:Adam20
|
APN |
8 |
41,248,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03090:Adam20
|
APN |
8 |
41,247,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB007:Adam20
|
UTSW |
8 |
41,250,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB017:Adam20
|
UTSW |
8 |
41,250,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4151001:Adam20
|
UTSW |
8 |
41,248,081 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
PIT4696001:Adam20
|
UTSW |
8 |
41,247,985 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0607:Adam20
|
UTSW |
8 |
41,248,517 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0885:Adam20
|
UTSW |
8 |
41,249,595 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1018:Adam20
|
UTSW |
8 |
41,249,146 (GRCm39) |
nonsense |
probably null |
|
|
R1147:Adam20
|
UTSW |
8 |
41,248,655 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1147:Adam20
|
UTSW |
8 |
41,248,655 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1421:Adam20
|
UTSW |
8 |
41,249,784 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1739:Adam20
|
UTSW |
8 |
41,249,595 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1778:Adam20
|
UTSW |
8 |
41,249,698 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1844:Adam20
|
UTSW |
8 |
41,249,080 (GRCm39) |
missense |
probably benign |
|
|
R3814:Adam20
|
UTSW |
8 |
41,248,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3877:Adam20
|
UTSW |
8 |
41,249,671 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4193:Adam20
|
UTSW |
8 |
41,248,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4357:Adam20
|
UTSW |
8 |
41,248,084 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4846:Adam20
|
UTSW |
8 |
41,248,048 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5452:Adam20
|
UTSW |
8 |
41,248,801 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6559:Adam20
|
UTSW |
8 |
41,249,329 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6708:Adam20
|
UTSW |
8 |
41,249,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Adam20
|
UTSW |
8 |
41,249,696 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7194:Adam20
|
UTSW |
8 |
41,249,449 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7323:Adam20
|
UTSW |
8 |
41,248,421 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7917:Adam20
|
UTSW |
8 |
41,249,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Adam20
|
UTSW |
8 |
41,250,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7954:Adam20
|
UTSW |
8 |
41,249,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Adam20
|
UTSW |
8 |
41,249,944 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8006:Adam20
|
UTSW |
8 |
41,248,944 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8125:Adam20
|
UTSW |
8 |
41,247,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8134:Adam20
|
UTSW |
8 |
41,249,101 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8435:Adam20
|
UTSW |
8 |
41,248,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8530:Adam20
|
UTSW |
8 |
41,249,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8695:Adam20
|
UTSW |
8 |
41,248,865 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8757:Adam20
|
UTSW |
8 |
41,248,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8871:Adam20
|
UTSW |
8 |
41,248,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8935:Adam20
|
UTSW |
8 |
41,247,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9110:Adam20
|
UTSW |
8 |
41,248,907 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9696:Adam20
|
UTSW |
8 |
41,249,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9703:Adam20
|
UTSW |
8 |
41,248,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Adam20
|
UTSW |
8 |
41,248,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9712:Adam20
|
UTSW |
8 |
41,248,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9713:Adam20
|
UTSW |
8 |
41,248,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Adam20
|
UTSW |
8 |
41,250,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACCTGTTATGGAGGCTTTC -3'
(R):5'- CGGGCACAAGATTTCCTTCATTC -3'
Sequencing Primer
(F):5'- TGGAGGCTTTCAAGGAATATTACAG -3'
(R):5'- AGATTTCCTTCATTCCACAACTCAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation