Incidental Mutation 'IGL03258:Ms4a6b'
| ID |
414716 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ms4a6b
|
| Ensembl Gene |
ENSMUSG00000024677 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 6B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03258
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11495923-11507767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 11499072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 62
(L62R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025580]
[ENSMUST00000161157]
[ENSMUST00000161283]
[ENSMUST00000163078]
|
| AlphaFold |
Q99N09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025580
AA Change: L62R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: L62R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
47 |
204 |
2.8e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159587
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161157
AA Change: L62R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125519
Gene: ENSMUSG00000024677
AA Change: L62R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
47 |
117 |
8e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161283
AA Change: L13R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124277
Gene: ENSMUSG00000024677
AA Change: L13R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
1 |
69 |
9.2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163078
AA Change: L62R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: L62R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
47 |
204 |
4.2e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189628
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,931,210 (GRCm39) |
|
probably benign |
Het |
| Adam1b |
A |
G |
5: 121,639,447 (GRCm39) |
S533P |
possibly damaging |
Het |
| Akr1c6 |
G |
T |
13: 4,486,408 (GRCm39) |
G72C |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,148,388 (GRCm39) |
T28I |
possibly damaging |
Het |
| Cog1 |
G |
A |
11: 113,545,919 (GRCm39) |
W398* |
probably null |
Het |
| Dmpk |
A |
G |
7: 18,826,131 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
C |
18: 50,053,960 (GRCm39) |
V2534A |
probably damaging |
Het |
| Fam78b |
A |
T |
1: 166,906,323 (GRCm39) |
T161S |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,969,215 (GRCm39) |
T1161S |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,095 (GRCm39) |
I122V |
probably benign |
Het |
| Ifi211 |
A |
T |
1: 173,733,098 (GRCm39) |
C188S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,777,695 (GRCm39) |
S114R |
probably damaging |
Het |
| Lrrc57 |
C |
T |
2: 120,435,703 (GRCm39) |
A239T |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,887 (GRCm39) |
Y707H |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,502,829 (GRCm39) |
H961L |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,418 (GRCm39) |
N556S |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,155,346 (GRCm39) |
T71A |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,371 (GRCm39) |
T887A |
probably benign |
Het |
| Pwwp2a |
T |
A |
11: 43,595,392 (GRCm39) |
F186I |
probably benign |
Het |
| Serpina1b |
G |
T |
12: 103,696,655 (GRCm39) |
S251R |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,467,936 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,625 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
G |
15: 81,213,243 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 75,986,386 (GRCm39) |
V98A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,379,655 (GRCm39) |
I324N |
possibly damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,566,773 (GRCm39) |
L772P |
probably damaging |
Het |
|
| Other mutations in Ms4a6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Ms4a6b
|
APN |
19 |
11,506,854 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01373:Ms4a6b
|
APN |
19 |
11,506,871 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0443:Ms4a6b
|
UTSW |
19 |
11,499,044 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0616:Ms4a6b
|
UTSW |
19 |
11,504,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1649:Ms4a6b
|
UTSW |
19 |
11,497,806 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1826:Ms4a6b
|
UTSW |
19 |
11,501,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Ms4a6b
|
UTSW |
19 |
11,499,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3966:Ms4a6b
|
UTSW |
19 |
11,499,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5380:Ms4a6b
|
UTSW |
19 |
11,499,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Ms4a6b
|
UTSW |
19 |
11,499,167 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5922:Ms4a6b
|
UTSW |
19 |
11,497,743 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6048:Ms4a6b
|
UTSW |
19 |
11,497,734 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6120:Ms4a6b
|
UTSW |
19 |
11,499,059 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6371:Ms4a6b
|
UTSW |
19 |
11,497,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Ms4a6b
|
UTSW |
19 |
11,504,253 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7253:Ms4a6b
|
UTSW |
19 |
11,497,760 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7516:Ms4a6b
|
UTSW |
19 |
11,506,907 (GRCm39) |
missense |
probably benign |
|
|
R7543:Ms4a6b
|
UTSW |
19 |
11,499,155 (GRCm39) |
missense |
not run |
|
|
R7645:Ms4a6b
|
UTSW |
19 |
11,501,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9687:Ms4a6b
|
UTSW |
19 |
11,497,806 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Ms4a6b
|
UTSW |
19 |
11,506,850 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Ms4a6b
|
UTSW |
19 |
11,497,787 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2016-08-02 |
Incidental Mutation