Incidental Mutation 'R5099:Ms4a20'
ID |
388197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ms4a20
|
Ensembl Gene |
ENSMUSG00000024729 |
Gene Name |
membrane-spanning 4-domains, subfamily A, member 20 |
Synonyms |
1700017D01Rik |
MMRRC Submission |
042688-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R5099 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
11074180-11108240 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 11089825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025635
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025635]
|
AlphaFold |
G5E851 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025635
|
SMART Domains |
Protein: ENSMUSP00000025635 Gene: ENSMUSG00000024729
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
18 |
118 |
2.4e-8 |
PFAM |
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
low complexity region
|
169 |
185 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188756
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsa |
A |
G |
15: 89,359,542 (GRCm39) |
L80P |
probably damaging |
Het |
Bdkrb1 |
A |
G |
12: 105,570,533 (GRCm39) |
D33G |
probably benign |
Het |
Ccdc178 |
A |
T |
18: 22,238,648 (GRCm39) |
V323E |
probably benign |
Het |
Ceacam5 |
T |
C |
7: 17,479,513 (GRCm39) |
V210A |
probably damaging |
Het |
Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
Gbp9 |
A |
T |
5: 105,242,379 (GRCm39) |
L120Q |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gsr |
T |
A |
8: 34,161,556 (GRCm39) |
I121N |
probably damaging |
Het |
Ift140 |
T |
A |
17: 25,309,674 (GRCm39) |
M1068K |
probably damaging |
Het |
Jakmip2 |
A |
G |
18: 43,701,173 (GRCm39) |
I414T |
probably benign |
Het |
Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
Mecom |
A |
G |
3: 30,039,465 (GRCm39) |
|
probably benign |
Het |
Mff |
C |
T |
1: 82,728,192 (GRCm39) |
|
probably benign |
Het |
Neb |
C |
T |
2: 52,085,460 (GRCm39) |
C1545Y |
probably damaging |
Het |
Or5ac24 |
C |
T |
16: 59,165,266 (GRCm39) |
G266D |
probably benign |
Het |
Or5p5 |
A |
G |
7: 107,413,809 (GRCm39) |
H6R |
probably benign |
Het |
Or8k36-ps1 |
A |
T |
2: 86,437,560 (GRCm39) |
N118K |
unknown |
Het |
Ppm1n |
A |
T |
7: 19,011,903 (GRCm39) |
L392Q |
possibly damaging |
Het |
Prr22 |
T |
C |
17: 57,078,467 (GRCm39) |
F207L |
probably benign |
Het |
Ptprv |
T |
C |
1: 135,046,592 (GRCm39) |
|
noncoding transcript |
Het |
Rin2 |
G |
A |
2: 145,720,821 (GRCm39) |
C718Y |
probably damaging |
Het |
Rpgrip1l |
G |
A |
8: 91,975,350 (GRCm39) |
T1089I |
probably benign |
Het |
Scn1a |
A |
G |
2: 66,108,145 (GRCm39) |
V1510A |
probably damaging |
Het |
Slfn3 |
A |
T |
11: 83,105,764 (GRCm39) |
Y587F |
probably damaging |
Het |
Sp2 |
T |
C |
11: 96,852,175 (GRCm39) |
K250E |
probably damaging |
Het |
Ssu2 |
A |
G |
6: 112,336,585 (GRCm39) |
S333P |
probably benign |
Het |
Strbp |
T |
C |
2: 37,493,030 (GRCm39) |
T419A |
probably damaging |
Het |
Tada2b |
A |
T |
5: 36,633,744 (GRCm39) |
M203K |
probably benign |
Het |
Tmem176b |
T |
C |
6: 48,811,463 (GRCm39) |
Y62C |
probably benign |
Het |
Tox |
G |
T |
4: 6,688,958 (GRCm39) |
Q469K |
probably benign |
Het |
Trgv5 |
G |
T |
13: 19,376,886 (GRCm39) |
C111F |
probably damaging |
Het |
Tyw5 |
T |
C |
1: 57,427,864 (GRCm39) |
N243D |
probably damaging |
Het |
Ube2q2 |
T |
A |
9: 55,113,307 (GRCm39) |
|
probably benign |
Het |
Ufl1 |
C |
T |
4: 25,275,914 (GRCm39) |
R83Q |
probably damaging |
Het |
Unk |
A |
G |
11: 115,949,936 (GRCm39) |
Q701R |
probably benign |
Het |
Vmn1r60 |
A |
T |
7: 5,547,816 (GRCm39) |
C95S |
probably damaging |
Het |
Vmn1r81 |
A |
G |
7: 11,994,248 (GRCm39) |
I120T |
possibly damaging |
Het |
|
Other mutations in Ms4a20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02142:Ms4a20
|
APN |
19 |
11,087,695 (GRCm39) |
nonsense |
probably null |
|
IGL02182:Ms4a20
|
APN |
19 |
11,074,436 (GRCm39) |
splice site |
probably benign |
|
IGL03156:Ms4a20
|
APN |
19 |
11,083,114 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0189:Ms4a20
|
UTSW |
19 |
11,074,311 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0218:Ms4a20
|
UTSW |
19 |
11,093,801 (GRCm39) |
nonsense |
probably null |
|
R0464:Ms4a20
|
UTSW |
19 |
11,089,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Ms4a20
|
UTSW |
19 |
11,089,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R1171:Ms4a20
|
UTSW |
19 |
11,089,741 (GRCm39) |
missense |
probably damaging |
0.97 |
R2341:Ms4a20
|
UTSW |
19 |
11,083,157 (GRCm39) |
missense |
probably benign |
|
R5330:Ms4a20
|
UTSW |
19 |
11,069,222 (GRCm39) |
unclassified |
probably benign |
|
R5331:Ms4a20
|
UTSW |
19 |
11,069,222 (GRCm39) |
unclassified |
probably benign |
|
R5341:Ms4a20
|
UTSW |
19 |
11,087,745 (GRCm39) |
intron |
probably benign |
|
R6109:Ms4a20
|
UTSW |
19 |
11,079,276 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6177:Ms4a20
|
UTSW |
19 |
11,083,114 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6970:Ms4a20
|
UTSW |
19 |
11,089,678 (GRCm39) |
critical splice donor site |
probably null |
|
R7038:Ms4a20
|
UTSW |
19 |
11,087,675 (GRCm39) |
missense |
probably benign |
|
R7584:Ms4a20
|
UTSW |
19 |
11,087,725 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7752:Ms4a20
|
UTSW |
19 |
11,079,224 (GRCm39) |
missense |
probably benign |
0.02 |
R7854:Ms4a20
|
UTSW |
19 |
11,089,741 (GRCm39) |
missense |
probably benign |
0.01 |
R8261:Ms4a20
|
UTSW |
19 |
11,087,707 (GRCm39) |
missense |
probably damaging |
0.97 |
R8723:Ms4a20
|
UTSW |
19 |
11,083,055 (GRCm39) |
missense |
probably damaging |
0.99 |
R9027:Ms4a20
|
UTSW |
19 |
11,083,055 (GRCm39) |
missense |
probably damaging |
0.99 |
R9264:Ms4a20
|
UTSW |
19 |
11,093,830 (GRCm39) |
start codon destroyed |
probably benign |
0.14 |
X0019:Ms4a20
|
UTSW |
19 |
11,083,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTAAGCCAGTGATCGAGCC -3'
(R):5'- GTGAACACTCACCATCCTGAAG -3'
Sequencing Primer
(F):5'- GATCGAGCCTAGTAAACTGTTGACC -3'
(R):5'- CACCATCCTGAAGCAAAAAGGGTTG -3'
|
Posted On |
2016-06-06 |