Incidental Mutation 'R5380:Ms4a6b'
| ID |
425827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ms4a6b
|
| Ensembl Gene |
ENSMUSG00000024677 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 6B |
| Synonyms |
|
| MMRRC Submission |
042955-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5380 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
11495923-11507767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11499044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 53
(I53F)
|
| 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: I53F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: I53F
| 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: I53F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125519
Gene: ENSMUSG00000024677
AA Change: I53F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
47 |
117 |
8e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161283
AA Change: I4F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124277
Gene: ENSMUSG00000024677
AA Change: I4F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
1 |
69 |
9.2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163078
AA Change: I53F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: I53F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
47 |
204 |
4.2e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189628
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
A |
T |
4: 40,177,848 (GRCm39) |
I290F |
probably damaging |
Het |
| Cfap107 |
A |
T |
4: 144,150,372 (GRCm39) |
W70R |
probably damaging |
Het |
| Cmip |
T |
A |
8: 118,149,629 (GRCm39) |
C155S |
probably damaging |
Het |
| Cyba |
G |
T |
8: 123,153,718 (GRCm39) |
P82T |
possibly damaging |
Het |
| Dgkb |
C |
T |
12: 38,177,299 (GRCm39) |
R202W |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,014,598 (GRCm39) |
E3611G |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,256,351 (GRCm39) |
S1885C |
probably benign |
Het |
| Dop1b |
A |
G |
16: 93,560,298 (GRCm39) |
E748G |
probably damaging |
Het |
| Dusp18 |
C |
A |
11: 3,847,037 (GRCm39) |
P9Q |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,943,013 (GRCm39) |
D635E |
probably damaging |
Het |
| Fbxo25 |
T |
A |
8: 13,971,886 (GRCm39) |
S79R |
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,315,230 (GRCm39) |
L675Q |
probably damaging |
Het |
| Foxo1 |
T |
A |
3: 52,176,446 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,805,742 (GRCm39) |
V687A |
possibly damaging |
Het |
| Gga3 |
G |
T |
11: 115,479,257 (GRCm39) |
P354Q |
probably damaging |
Het |
| Gm11077 |
A |
T |
6: 140,675,048 (GRCm39) |
K13N |
unknown |
Het |
| Haus4 |
T |
A |
14: 54,787,232 (GRCm39) |
K75M |
probably damaging |
Het |
| Igfn1 |
G |
A |
1: 135,893,825 (GRCm39) |
T2085M |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lims1 |
A |
T |
10: 58,252,492 (GRCm39) |
I321L |
probably damaging |
Het |
| Msl3l2 |
A |
G |
10: 55,991,668 (GRCm39) |
D131G |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,370,035 (GRCm39) |
V189A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pfkl |
T |
G |
10: 77,833,423 (GRCm39) |
I260L |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,171 (GRCm39) |
Y128H |
probably benign |
Het |
| Prpf6 |
T |
A |
2: 181,250,059 (GRCm39) |
L73Q |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,321,316 (GRCm39) |
V658A |
probably damaging |
Het |
| Rab27b |
T |
C |
18: 70,129,226 (GRCm39) |
T23A |
probably damaging |
Het |
| Rabif |
A |
G |
1: 134,433,980 (GRCm39) |
E98G |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,271,185 (GRCm39) |
D378G |
possibly damaging |
Het |
| Spata21 |
A |
G |
4: 140,834,496 (GRCm39) |
T494A |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,344,771 (GRCm39) |
K919E |
probably benign |
Het |
| Tnrc6b |
C |
G |
15: 80,763,766 (GRCm39) |
P423A |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,435,675 (GRCm39) |
F352L |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
| Tspo2 |
A |
G |
17: 48,755,780 (GRCm39) |
F93L |
probably benign |
Het |
| V1ra8 |
T |
A |
6: 90,180,004 (GRCm39) |
I69K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,456,102 (GRCm39) |
T1353A |
unknown |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp281 |
A |
G |
1: 136,553,676 (GRCm39) |
K218R |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCAAGGACAGAAACGCC -3'
(R):5'- AGCTAGGTGAAAACTCCCTTCTC -3'
Sequencing Primer
(F):5'- CTAAAGGTGACCCGAGGCTCTAG -3'
(R):5'- AGGTGAAAACTCCCTTCTCTCTCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation