Incidental Mutation 'R5922:Ms4a6b'
| ID |
461658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ms4a6b
|
| Ensembl Gene |
ENSMUSG00000024677 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 6B |
| Synonyms |
|
| MMRRC Submission |
043240-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5922 (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 11497743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 14
(I14N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025580]
[ENSMUST00000161157]
[ENSMUST00000161283]
[ENSMUST00000163078]
|
| AlphaFold |
Q99N09 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025580
AA Change: I14N
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: I14N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
47 |
204 |
2.8e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159587
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161157
AA Change: I14N
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125519
Gene: ENSMUSG00000024677
AA Change: I14N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
47 |
117 |
8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161283
|
| SMART Domains |
Protein: ENSMUSP00000124277
Gene: ENSMUSG00000024677
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
1 |
69 |
9.2e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163078
AA Change: I14N
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: I14N
| 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: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
| Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
| Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
| Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
| Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
| Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
| Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
| Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
| Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
| Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
| Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
probably benign |
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 |
|
R5862:Ms4a6b
|
UTSW |
19 |
11,499,167 (GRCm39) |
missense |
probably benign |
0.13 |
|
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'- TGCTGTGTACTCTGATCATGC -3'
(R):5'- GGTCCTAATACATAGAGCCTCACC -3'
Sequencing Primer
(F):5'- TATCCAACACTATCCAACTTTGCATC -3'
(R):5'- TACATAGAGCCTCACCCTCTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation