Incidental Mutation 'IGL00594:Ms4a14'
| ID |
332745 |
| 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: 0.175)
|
| Stock # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
11278613-11291818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11278983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1192
(S1192P)
|
| 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: S1192P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140996
Gene: ENSMUSG00000099398
AA Change: S1192P
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
| Other mutations in Ms4a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation