Incidental Mutation 'IGL03173:Ms4a14'
| ID |
411918 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ms4a14
|
| Ensembl Gene |
ENSMUSG00000099398 |
| Gene Name |
membrane-spanning 4-domains, subfamily A, member 14 |
| Synonyms |
LOC383435 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
IGL03173
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11278613-11291818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 11281560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 333
(L333F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000187467]
|
| AlphaFold |
A0A087WSD2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181137
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187467
AA Change: L333F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140996
Gene: ENSMUSG00000099398
AA Change: L333F
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2b |
T |
C |
12: 105,624,553 (GRCm39) |
K649E |
possibly damaging |
Het |
| Cnnm4 |
A |
G |
1: 36,512,173 (GRCm39) |
|
probably benign |
Het |
| Cntrob |
C |
T |
11: 69,200,853 (GRCm39) |
A503T |
possibly damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,710,497 (GRCm39) |
Y170N |
probably damaging |
Het |
| Ddx23 |
T |
C |
15: 98,548,885 (GRCm39) |
I306V |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,856,737 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
C |
3: 63,897,750 (GRCm39) |
V234A |
probably damaging |
Het |
| Hivep2 |
G |
T |
10: 14,003,726 (GRCm39) |
G108V |
possibly damaging |
Het |
| Irgc |
T |
C |
7: 24,132,727 (GRCm39) |
E30G |
probably damaging |
Het |
| Krt75 |
T |
C |
15: 101,481,162 (GRCm39) |
Y204C |
probably damaging |
Het |
| Or51l4 |
A |
G |
7: 103,404,183 (GRCm39) |
V203A |
probably benign |
Het |
| Or5an6 |
T |
A |
19: 12,372,410 (GRCm39) |
M261K |
possibly damaging |
Het |
| Or8k27 |
A |
T |
2: 86,275,788 (GRCm39) |
C179* |
probably null |
Het |
| Pitpnm3 |
G |
A |
11: 71,983,389 (GRCm39) |
T80I |
probably benign |
Het |
| Pou2f2 |
T |
C |
7: 24,799,371 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,561,089 (GRCm39) |
L518P |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,351,706 (GRCm39) |
T235S |
probably damaging |
Het |
| Ssxa1 |
C |
T |
X: 20,985,224 (GRCm39) |
R41C |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,671,317 (GRCm39) |
N142D |
possibly damaging |
Het |
| Taf3 |
A |
G |
2: 9,957,738 (GRCm39) |
V143A |
probably damaging |
Het |
| Trav13-5 |
T |
C |
14: 54,033,534 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,848,932 (GRCm39) |
|
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,319,645 (GRCm39) |
E445G |
possibly damaging |
Het |
| Zfp663 |
G |
T |
2: 165,194,419 (GRCm39) |
T600K |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,404,651 (GRCm39) |
Q75* |
probably null |
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 |
|
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 |
|
R6585:Ms4a14
|
UTSW |
19 |
11,281,009 (GRCm39) |
missense |
unknown |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation