Incidental Mutation 'R6568:Ms4a13'
ID |
526178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ms4a13
|
Ensembl Gene |
ENSMUSG00000057240 |
Gene Name |
membrane-spanning 4-domains, subfamily A, member 13 |
Synonyms |
1700060E18Rik |
MMRRC Submission |
044692-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R6568 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11146782-11174101 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11168923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 34
(L34P)
|
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: L34P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073095 Gene: ENSMUSG00000057240 AA Change: L34P
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: L34P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140293 Gene: ENSMUSG00000057240 AA Change: L34P
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
15 |
152 |
2.1e-24 |
PFAM |
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
T |
C |
1: 138,779,872 (GRCm39) |
K127E |
possibly damaging |
Het |
Ash1l |
G |
A |
3: 88,959,344 (GRCm39) |
M2240I |
probably benign |
Het |
Bhmt1b |
A |
T |
18: 87,775,566 (GRCm39) |
Y363F |
probably benign |
Het |
Ccr5 |
G |
A |
9: 123,925,236 (GRCm39) |
A280T |
probably damaging |
Het |
Ceacam5 |
C |
T |
7: 17,479,416 (GRCm39) |
L178F |
probably damaging |
Het |
Col2a1 |
T |
C |
15: 97,875,157 (GRCm39) |
N1259S |
unknown |
Het |
Doc2b |
A |
C |
11: 75,667,820 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
C |
5: 73,216,859 (GRCm39) |
N2144D |
probably damaging |
Het |
Hdac1-ps |
A |
G |
17: 78,800,017 (GRCm39) |
Y336C |
probably damaging |
Het |
Ighv1-34 |
A |
T |
12: 114,815,231 (GRCm39) |
W5R |
probably benign |
Het |
Kdr |
A |
G |
5: 76,122,434 (GRCm39) |
V497A |
probably benign |
Het |
Miip |
T |
A |
4: 147,950,372 (GRCm39) |
M75L |
probably benign |
Het |
Mplkip |
T |
C |
13: 17,870,262 (GRCm39) |
S65P |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nek1 |
T |
C |
8: 61,559,855 (GRCm39) |
S896P |
probably benign |
Het |
Or5ac17 |
A |
T |
16: 59,036,641 (GRCm39) |
C112S |
probably benign |
Het |
Polr3b |
T |
A |
10: 84,470,767 (GRCm39) |
M136K |
probably damaging |
Het |
Rgsl1 |
A |
C |
1: 153,697,292 (GRCm39) |
W508G |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 52,038,908 (GRCm39) |
M354K |
probably damaging |
Het |
Slc34a2 |
T |
C |
5: 53,226,476 (GRCm39) |
L533P |
probably damaging |
Het |
Taf2 |
G |
A |
15: 54,928,026 (GRCm39) |
L126F |
probably damaging |
Het |
Tlr12 |
T |
C |
4: 128,511,785 (GRCm39) |
D155G |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Zfp942 |
T |
G |
17: 22,148,043 (GRCm39) |
K195N |
probably benign |
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 |
|
R1327:Ms4a13
|
UTSW |
19 |
11,161,251 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGAGTAAGTCAGCAAGTGGC -3'
(R):5'- AACTCCATAGTTAGTGCATGACC -3'
Sequencing Primer
(F):5'- ACTTTGTTCAGAAACTAGCTCCTAC -3'
(R):5'- CCATAGTTAGTGCATGACCAGTTTAC -3'
|
Posted On |
2018-06-22 |