Incidental Mutation 'R5862:Ms4a6b'
ID |
490485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ms4a6b
|
Ensembl Gene |
ENSMUSG00000024677 |
Gene Name |
membrane-spanning 4-domains, subfamily A, member 6B |
Synonyms |
|
MMRRC Submission |
043231-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5862 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11495923-11507767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 11499167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 94
(F94I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125519
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025580]
[ENSMUST00000161157]
[ENSMUST00000161283]
[ENSMUST00000163078]
|
AlphaFold |
Q99N09 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025580
AA Change: F94I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000025580 Gene: ENSMUSG00000024677 AA Change: F94I
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
47 |
204 |
2.8e-43 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159587
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161157
AA Change: F94I
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000125519 Gene: ENSMUSG00000024677 AA Change: F94I
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
47 |
117 |
8e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161283
AA Change: F45I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000124277 Gene: ENSMUSG00000024677 AA Change: F45I
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
1 |
69 |
9.2e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163078
AA Change: F94I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000124685 Gene: ENSMUSG00000024677 AA Change: F94I
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
47 |
204 |
4.2e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189628
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
G |
1: 179,615,895 (GRCm39) |
Y326H |
probably damaging |
Het |
Alpk2 |
T |
A |
18: 65,440,360 (GRCm39) |
K811N |
probably damaging |
Het |
Ap3b1 |
T |
A |
13: 94,684,278 (GRCm39) |
M1014K |
unknown |
Het |
Bphl |
G |
A |
13: 34,247,967 (GRCm39) |
V247I |
possibly damaging |
Het |
C6 |
A |
T |
15: 4,764,745 (GRCm39) |
D147V |
possibly damaging |
Het |
Clec18a |
G |
A |
8: 111,808,190 (GRCm39) |
H71Y |
possibly damaging |
Het |
Cse1l |
A |
G |
2: 166,757,127 (GRCm39) |
T10A |
probably benign |
Het |
Cyp2b9 |
G |
T |
7: 25,887,232 (GRCm39) |
G214C |
probably benign |
Het |
Dctn6 |
A |
T |
8: 34,575,571 (GRCm39) |
|
probably null |
Het |
Dnaja4 |
G |
T |
9: 54,606,625 (GRCm39) |
|
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,953,004 (GRCm39) |
S227C |
probably benign |
Het |
Ecel1 |
T |
C |
1: 87,077,318 (GRCm39) |
N630S |
probably benign |
Het |
Etnppl |
T |
C |
3: 130,425,473 (GRCm39) |
V426A |
possibly damaging |
Het |
Golgb1 |
A |
T |
16: 36,746,453 (GRCm39) |
|
silent |
Het |
Hapln3 |
A |
T |
7: 78,771,639 (GRCm39) |
H83Q |
possibly damaging |
Het |
Hmgxb4 |
A |
G |
8: 75,727,683 (GRCm39) |
K222R |
probably damaging |
Het |
Hsf5 |
C |
A |
11: 87,513,817 (GRCm39) |
T294K |
probably damaging |
Het |
Ighv12-2 |
A |
G |
12: 114,091,557 (GRCm39) |
|
noncoding transcript |
Het |
Lrch3 |
A |
T |
16: 32,816,179 (GRCm39) |
H587L |
probably damaging |
Het |
Macroh2a1 |
T |
A |
13: 56,222,084 (GRCm39) |
I359L |
probably damaging |
Het |
Mboat1 |
C |
T |
13: 30,419,680 (GRCm39) |
T339M |
probably damaging |
Het |
Mief1 |
G |
A |
15: 80,132,586 (GRCm39) |
R156Q |
probably benign |
Het |
Neb |
T |
A |
2: 52,069,554 (GRCm39) |
R307* |
probably null |
Het |
Neu4 |
A |
G |
1: 93,950,652 (GRCm39) |
I147V |
probably benign |
Het |
Or5m9b |
T |
C |
2: 85,905,990 (GRCm39) |
I302T |
probably benign |
Het |
Pcyox1 |
A |
G |
6: 86,368,656 (GRCm39) |
|
probably null |
Het |
Pik3ap1 |
T |
A |
19: 41,320,784 (GRCm39) |
D145V |
probably damaging |
Het |
Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
Plekhg1 |
C |
T |
10: 3,887,914 (GRCm39) |
T281M |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,401,739 (GRCm39) |
I1918V |
probably benign |
Het |
Rasgef1a |
A |
C |
6: 118,057,405 (GRCm39) |
R35S |
probably benign |
Het |
Rnf167 |
A |
G |
11: 70,541,918 (GRCm39) |
T308A |
probably damaging |
Het |
Sfmbt2 |
C |
T |
2: 10,406,863 (GRCm39) |
T54I |
possibly damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Shkbp1 |
G |
T |
7: 27,042,829 (GRCm39) |
S536* |
probably null |
Het |
Taf2 |
C |
A |
15: 54,911,719 (GRCm39) |
V566L |
possibly damaging |
Het |
Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
Tyms |
A |
T |
5: 30,268,408 (GRCm39) |
D97E |
probably damaging |
Het |
Usp20 |
T |
A |
2: 30,896,461 (GRCm39) |
L188* |
probably null |
Het |
Zbtb10 |
T |
A |
3: 9,330,276 (GRCm39) |
S545T |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
IGL03258:Ms4a6b
|
APN |
19 |
11,499,072 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGTCCTTCTTGTCATTGC -3'
(R):5'- TGGCCACCAAAGTCATCATC -3'
Sequencing Primer
(F):5'- TGTCATTGCTGGTTTAATCACC -3'
(R):5'- CATCGCTCAATAGATGACATGATAGG -3'
|
Posted On |
2017-10-20 |