Incidental Mutation 'IGL03136:Ms4a14'
| ID |
410533 |
| 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 # |
IGL03136
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11278613-11291818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11281775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 261
(D261G)
|
| 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: D261G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140996
Gene: ENSMUSG00000099398
AA Change: D261G
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,719,122 (GRCm39) |
L7S |
unknown |
Het |
| Abr |
C |
T |
11: 76,316,121 (GRCm39) |
W571* |
probably null |
Het |
| Adam18 |
A |
T |
8: 25,131,852 (GRCm39) |
C420S |
probably damaging |
Het |
| Akap5 |
G |
T |
12: 76,376,649 (GRCm39) |
E694* |
probably null |
Het |
| Bbs1 |
T |
C |
19: 4,941,019 (GRCm39) |
K565R |
probably benign |
Het |
| Brix1 |
A |
G |
15: 10,478,852 (GRCm39) |
F189S |
probably damaging |
Het |
| Cnot4 |
C |
A |
6: 35,028,176 (GRCm39) |
R480L |
probably damaging |
Het |
| Ctu2 |
A |
G |
8: 123,205,940 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,401,103 (GRCm39) |
H422R |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,770,118 (GRCm39) |
M1793V |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,892,028 (GRCm39) |
F853L |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,258,466 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
C |
T |
11: 106,144,639 (GRCm39) |
D117N |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,528,107 (GRCm39) |
I142V |
possibly damaging |
Het |
| Hsd3b1 |
G |
A |
3: 98,760,301 (GRCm39) |
A230V |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,145,156 (GRCm39) |
A836T |
probably benign |
Het |
| Ift52 |
G |
T |
2: 162,867,254 (GRCm39) |
E71* |
probably null |
Het |
| Nid1 |
G |
A |
13: 13,675,084 (GRCm39) |
V935I |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,330,687 (GRCm39) |
K1008E |
possibly damaging |
Het |
| Nup210 |
A |
C |
6: 91,005,843 (GRCm39) |
V1340G |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,103 (GRCm39) |
F177I |
probably damaging |
Het |
| Or5b94 |
T |
A |
19: 12,652,331 (GRCm39) |
I254N |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,854,332 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Pdcd6ip |
T |
A |
9: 113,520,567 (GRCm39) |
N139I |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,617,609 (GRCm39) |
V80A |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,768,603 (GRCm39) |
I242T |
probably benign |
Het |
| Prtg |
T |
G |
9: 72,764,267 (GRCm39) |
V580G |
possibly damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,691,329 (GRCm39) |
N1065K |
possibly damaging |
Het |
| Qrich1 |
G |
A |
9: 108,422,117 (GRCm39) |
R577H |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,506,319 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
C |
5: 30,462,725 (GRCm39) |
Y197H |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,201,591 (GRCm39) |
C343R |
probably benign |
Het |
| Smurf2 |
A |
T |
11: 106,721,874 (GRCm39) |
D527E |
probably benign |
Het |
| Spam1 |
C |
T |
6: 24,797,010 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,841,435 (GRCm39) |
V460A |
probably benign |
Het |
| Tgoln1 |
G |
A |
6: 72,591,096 (GRCm39) |
R339W |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,231,512 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
T |
G |
17: 48,671,879 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
A |
T |
4: 83,155,517 (GRCm39) |
V497E |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,933 (GRCm39) |
T176A |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,797,911 (GRCm39) |
I634N |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,857,592 (GRCm39) |
E2608G |
probably damaging |
Het |
| Zfp575 |
A |
G |
7: 24,285,381 (GRCm39) |
C87R |
probably damaging |
Het |
| Zfp790 |
T |
A |
7: 29,529,320 (GRCm39) |
Y668* |
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 |
|
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 |
|
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