Incidental Mutation 'R1327:Ms4a13'
| ID |
157264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ms4a13
|
| Ensembl Gene |
ENSMUSG00000057240 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 13 |
| Synonyms |
1700060E18Rik |
| MMRRC Submission |
039393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R1327 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
11146782-11174101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11161251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 96
(I96N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073380]
[ENSMUST00000188464]
|
| AlphaFold |
Q5FWC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073380
AA Change: I96N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073095
Gene: ENSMUSG00000057240
AA Change: I96N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
15 |
137 |
6.3e-10 |
PFAM |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188464
AA Change: I96N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140293
Gene: ENSMUSG00000057240
AA Change: I96N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
15 |
152 |
2.1e-24 |
PFAM |
|
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5436 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 88.1%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,560,748 (GRCm39) |
F99L |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,702 (GRCm39) |
|
probably null |
Het |
| Bsnd |
C |
T |
4: 106,343,809 (GRCm39) |
E166K |
probably benign |
Het |
| Cxcl9 |
A |
G |
5: 92,474,709 (GRCm39) |
C30R |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Epha5 |
C |
A |
5: 84,254,644 (GRCm39) |
D632Y |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,661,859 (GRCm39) |
Y79H |
probably benign |
Het |
| Fh1 |
A |
G |
1: 175,437,310 (GRCm39) |
M263T |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,177 (GRCm39) |
I245N |
possibly damaging |
Het |
| Nipa2 |
G |
A |
7: 55,594,256 (GRCm39) |
L38F |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,269,840 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,361,098 (GRCm39) |
D454E |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,418,193 (GRCm39) |
G973D |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,408,376 (GRCm39) |
V922A |
possibly damaging |
Het |
| Setbp1 |
T |
C |
18: 78,826,573 (GRCm39) |
M1347V |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,016 (GRCm39) |
I130V |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,509,016 (GRCm39) |
S48P |
probably benign |
Het |
| Star |
A |
G |
8: 26,299,865 (GRCm39) |
D69G |
probably benign |
Het |
| Syne1 |
C |
A |
10: 4,998,925 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,743,743 (GRCm39) |
N1212K |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,556 (GRCm39) |
M721V |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,934,678 (GRCm39) |
D223G |
possibly damaging |
Het |
| Vit |
G |
A |
17: 78,932,629 (GRCm39) |
D579N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,464,173 (GRCm39) |
|
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,108,070 (GRCm39) |
H10L |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,724,189 (GRCm39) |
E2064G |
probably damaging |
Het |
| Zftraf1 |
T |
A |
15: 76,533,376 (GRCm39) |
T121S |
probably damaging |
Het |
| Zic5 |
T |
G |
14: 122,697,191 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,784,240 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ms4a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00789:Ms4a13
|
APN |
19 |
11,162,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Ms4a13
|
APN |
19 |
11,149,292 (GRCm39) |
missense |
probably benign |
|
|
IGL03259:Ms4a13
|
APN |
19 |
11,161,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0465:Ms4a13
|
UTSW |
19 |
11,149,957 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0539:Ms4a13
|
UTSW |
19 |
11,149,235 (GRCm39) |
intron |
probably benign |
|
|
R1500:Ms4a13
|
UTSW |
19 |
11,161,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Ms4a13
|
UTSW |
19 |
11,161,280 (GRCm39) |
nonsense |
probably null |
|
|
R5888:Ms4a13
|
UTSW |
19 |
11,168,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5940:Ms4a13
|
UTSW |
19 |
11,170,330 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6568:Ms4a13
|
UTSW |
19 |
11,168,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Ms4a13
|
UTSW |
19 |
11,170,303 (GRCm39) |
missense |
probably benign |
|
|
R6678:Ms4a13
|
UTSW |
19 |
11,161,222 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6919:Ms4a13
|
UTSW |
19 |
11,149,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7596:Ms4a13
|
UTSW |
19 |
11,147,329 (GRCm39) |
missense |
unknown |
|
|
R8797:Ms4a13
|
UTSW |
19 |
11,161,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9060:Ms4a13
|
UTSW |
19 |
11,168,950 (GRCm39) |
missense |
|
|
|
R9519:Ms4a13
|
UTSW |
19 |
11,147,332 (GRCm39) |
missense |
unknown |
|
|
R9545:Ms4a13
|
UTSW |
19 |
11,147,332 (GRCm39) |
missense |
unknown |
|
|
Z1177:Ms4a13
|
UTSW |
19 |
11,149,948 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAAGCAagacagagaagaaaggagagag -3'
(R):5'- TGGCAAGCATAAGCACATGTCGAA -3'
Sequencing Primer
(F):5'- tggaatagggagatggggg -3'
(R):5'- TAAGCACATGTCGAAAGCTTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation