Incidental Mutation 'R6585:Ms4a14'
| ID |
524365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ms4a14
|
| Ensembl Gene |
ENSMUSG00000099398 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 14 |
| Synonyms |
LOC383435 |
| MMRRC Submission |
044709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R6585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
11278613-11291818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11281009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 516
(Q516H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000187467]
|
| AlphaFold |
A0A087WSD2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181137
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000187467
AA Change: Q516H
|
| SMART Domains |
Protein: ENSMUSP00000140996
Gene: ENSMUSG00000099398
AA Change: Q516H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
44 |
182 |
2.9e-27 |
PFAM |
|
internal_repeat_2
|
356 |
466 |
2.78e-10 |
PROSPERO |
|
internal_repeat_1
|
390 |
506 |
1.75e-17 |
PROSPERO |
|
low complexity region
|
522 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
660 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
665 |
786 |
1.75e-17 |
PROSPERO |
|
internal_repeat_2
|
700 |
811 |
2.78e-10 |
PROSPERO |
|
low complexity region
|
911 |
936 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
992 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1092 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,885,534 (GRCm39) |
C108Y |
probably damaging |
Het |
| Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
| Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
| Chd1l |
A |
G |
3: 97,505,088 (GRCm39) |
F160L |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
| Defa38 |
A |
G |
8: 21,585,248 (GRCm39) |
C65R |
possibly damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Elp2 |
T |
C |
18: 24,758,606 (GRCm39) |
L503S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
| H2bc18 |
A |
T |
3: 96,177,413 (GRCm39) |
T116S |
probably benign |
Het |
| Kcnj1 |
T |
C |
9: 32,308,557 (GRCm39) |
V307A |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,552,314 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,484,521 (GRCm39) |
Y367* |
probably null |
Het |
| Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
| Or13c3 |
A |
T |
4: 52,856,192 (GRCm39) |
M107K |
possibly damaging |
Het |
| Or5ae1 |
A |
T |
7: 84,565,670 (GRCm39) |
I228F |
probably damaging |
Het |
| Park7 |
G |
T |
4: 150,989,721 (GRCm39) |
Q80K |
probably benign |
Het |
| Pramel15 |
C |
A |
4: 144,103,600 (GRCm39) |
L175F |
possibly damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,529,415 (GRCm39) |
P62S |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
| Rprd1a |
T |
C |
18: 24,639,720 (GRCm39) |
|
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,006,251 (GRCm39) |
W138R |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,354,124 (GRCm39) |
E838G |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,926 (GRCm39) |
L1165F |
probably damaging |
Het |
| Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly damaging |
Het |
|
| Other mutations in Ms4a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Ms4a14
|
APN |
19 |
11,278,983 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03131:Ms4a14
|
APN |
19 |
11,285,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03136:Ms4a14
|
APN |
19 |
11,281,775 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03173:Ms4a14
|
APN |
19 |
11,281,560 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03210:Ms4a14
|
APN |
19 |
11,279,325 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0054:Ms4a14
|
UTSW |
19 |
11,281,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2895:Ms4a14
|
UTSW |
19 |
11,281,595 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4455:Ms4a14
|
UTSW |
19 |
11,280,990 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4574:Ms4a14
|
UTSW |
19 |
11,281,335 (GRCm39) |
missense |
probably benign |
|
|
R4804:Ms4a14
|
UTSW |
19 |
11,281,404 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4815:Ms4a14
|
UTSW |
19 |
11,291,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4854:Ms4a14
|
UTSW |
19 |
11,287,733 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4858:Ms4a14
|
UTSW |
19 |
11,278,976 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5002:Ms4a14
|
UTSW |
19 |
11,281,653 (GRCm39) |
missense |
probably benign |
|
|
R5382:Ms4a14
|
UTSW |
19 |
11,280,421 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5580:Ms4a14
|
UTSW |
19 |
11,280,590 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5626:Ms4a14
|
UTSW |
19 |
11,281,419 (GRCm39) |
missense |
probably benign |
|
|
R5767:Ms4a14
|
UTSW |
19 |
11,279,391 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5801:Ms4a14
|
UTSW |
19 |
11,279,246 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5801:Ms4a14
|
UTSW |
19 |
11,279,150 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5865:Ms4a14
|
UTSW |
19 |
11,281,581 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5919:Ms4a14
|
UTSW |
19 |
11,291,661 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6261:Ms4a14
|
UTSW |
19 |
11,281,384 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6974:Ms4a14
|
UTSW |
19 |
11,279,499 (GRCm39) |
missense |
probably benign |
|
|
R7401:Ms4a14
|
UTSW |
19 |
11,279,594 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7445:Ms4a14
|
UTSW |
19 |
11,280,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7489:Ms4a14
|
UTSW |
19 |
11,279,395 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7524:Ms4a14
|
UTSW |
19 |
11,281,200 (GRCm39) |
missense |
unknown |
|
|
R7532:Ms4a14
|
UTSW |
19 |
11,281,323 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7689:Ms4a14
|
UTSW |
19 |
11,279,906 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7732:Ms4a14
|
UTSW |
19 |
11,279,047 (GRCm39) |
missense |
probably benign |
|
|
R7737:Ms4a14
|
UTSW |
19 |
11,280,150 (GRCm39) |
nonsense |
probably null |
|
|
R7860:Ms4a14
|
UTSW |
19 |
11,280,308 (GRCm39) |
missense |
probably benign |
|
|
R8098:Ms4a14
|
UTSW |
19 |
11,281,979 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8924:Ms4a14
|
UTSW |
19 |
11,281,113 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9014:Ms4a14
|
UTSW |
19 |
11,278,871 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9133:Ms4a14
|
UTSW |
19 |
11,281,038 (GRCm39) |
missense |
|
|
|
R9240:Ms4a14
|
UTSW |
19 |
11,281,864 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9679:Ms4a14
|
UTSW |
19 |
11,280,048 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9725:Ms4a14
|
UTSW |
19 |
11,280,729 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGAGTCACTTCAGATGGAG -3'
(R):5'- AAGAGACTCCATCCCAAGGG -3'
Sequencing Primer
(F):5'- TGGAGACACTTGGAGTGA -3'
(R):5'- GGGACTCCATACCAAGATCTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation