Incidental Mutation 'IGL02955:Mfsd13a'
| ID |
365070 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfsd13a
|
| Ensembl Gene |
ENSMUSG00000025227 |
| Gene Name |
major facilitator superfamily domain containing 13a |
| Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
IGL02955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46345315-46363693 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 46356192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 99
(V99G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086969]
[ENSMUST00000128041]
[ENSMUST00000128455]
[ENSMUST00000142994]
|
| AlphaFold |
Q6PDE8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086969
AA Change: V99G
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: V99G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
15 |
441 |
6.2e-23 |
PFAM |
|
low complexity region
|
453 |
463 |
N/A |
INTRINSIC |
|
transmembrane domain
|
470 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128041
AA Change: V99G
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: V99G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
9 |
441 |
1.1e-26 |
PFAM |
|
low complexity region
|
453 |
463 |
N/A |
INTRINSIC |
|
transmembrane domain
|
470 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137143
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142994
AA Change: V99G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227
AA Change: V99G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
8 |
318 |
7.8e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
A |
11: 76,309,991 (GRCm39) |
H840L |
probably damaging |
Het |
| Anks1 |
A |
G |
17: 28,273,291 (GRCm39) |
D970G |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,591 (GRCm39) |
K162R |
probably null |
Het |
| Bicd2 |
T |
C |
13: 49,531,691 (GRCm39) |
V311A |
probably benign |
Het |
| Cblif |
T |
C |
19: 11,725,027 (GRCm39) |
L6P |
possibly damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,437,123 (GRCm39) |
L489P |
probably damaging |
Het |
| Cd55 |
G |
T |
1: 130,377,219 (GRCm39) |
T38K |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,817,676 (GRCm39) |
A749E |
probably benign |
Het |
| Cntn3 |
G |
T |
6: 102,255,262 (GRCm39) |
T212N |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,199,097 (GRCm39) |
|
probably benign |
Het |
| Dclre1c |
A |
G |
2: 3,439,089 (GRCm39) |
E83G |
probably damaging |
Het |
| Dok4 |
T |
C |
8: 95,592,256 (GRCm39) |
N244S |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,142,864 (GRCm39) |
T1151A |
probably benign |
Het |
| Fer |
G |
A |
17: 64,298,712 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,584 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,875,014 (GRCm39) |
L991P |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,261 (GRCm39) |
D722G |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,267,565 (GRCm39) |
I586T |
probably benign |
Het |
| Lig1 |
G |
A |
7: 13,030,273 (GRCm39) |
G417R |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,103 (GRCm39) |
I559T |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,343,300 (GRCm39) |
I1731V |
probably benign |
Het |
| Nelfcd |
A |
G |
2: 174,264,391 (GRCm39) |
H153R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,060,637 (GRCm39) |
Y724H |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 53,548,048 (GRCm39) |
N101K |
probably damaging |
Het |
| Nuf2 |
A |
G |
1: 169,334,807 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
T |
C |
7: 6,517,682 (GRCm39) |
T249A |
probably damaging |
Het |
| Or11g7 |
C |
T |
14: 50,691,442 (GRCm39) |
T311I |
probably damaging |
Het |
| Or5c1 |
A |
T |
2: 37,222,013 (GRCm39) |
M85L |
probably benign |
Het |
| Polr3c |
A |
G |
3: 96,621,628 (GRCm39) |
Y423H |
probably damaging |
Het |
| Pomgnt2 |
A |
G |
9: 121,811,956 (GRCm39) |
L275P |
probably damaging |
Het |
| Ptprj |
T |
G |
2: 90,298,808 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,053,156 (GRCm39) |
I931T |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
| Rpl10a |
T |
C |
17: 28,547,967 (GRCm39) |
I36T |
probably damaging |
Het |
| Tagap1 |
T |
C |
17: 7,223,781 (GRCm39) |
H305R |
probably damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,508 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,457,682 (GRCm39) |
E105G |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,798,241 (GRCm39) |
C2055F |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,052,963 (GRCm39) |
N277S |
probably damaging |
Het |
|
| Other mutations in Mfsd13a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Mfsd13a
|
APN |
19 |
46,354,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01380:Mfsd13a
|
APN |
19 |
46,356,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01773:Mfsd13a
|
APN |
19 |
46,357,733 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02458:Mfsd13a
|
APN |
19 |
46,360,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0113:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0114:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0115:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0361:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0656:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1174:Mfsd13a
|
UTSW |
19 |
46,363,125 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1210:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1251:Mfsd13a
|
UTSW |
19 |
46,360,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1364:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1365:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1366:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1367:Mfsd13a
|
UTSW |
19 |
46,354,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1692:Mfsd13a
|
UTSW |
19 |
46,360,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1852:Mfsd13a
|
UTSW |
19 |
46,360,619 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1968:Mfsd13a
|
UTSW |
19 |
46,360,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2846:Mfsd13a
|
UTSW |
19 |
46,360,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2985:Mfsd13a
|
UTSW |
19 |
46,360,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3415:Mfsd13a
|
UTSW |
19 |
46,360,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Mfsd13a
|
UTSW |
19 |
46,360,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3431:Mfsd13a
|
UTSW |
19 |
46,360,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3432:Mfsd13a
|
UTSW |
19 |
46,360,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Mfsd13a
|
UTSW |
19 |
46,356,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4393:Mfsd13a
|
UTSW |
19 |
46,360,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Mfsd13a
|
UTSW |
19 |
46,360,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Mfsd13a
|
UTSW |
19 |
46,360,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Mfsd13a
|
UTSW |
19 |
46,355,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Mfsd13a
|
UTSW |
19 |
46,356,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5806:Mfsd13a
|
UTSW |
19 |
46,354,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6153:Mfsd13a
|
UTSW |
19 |
46,356,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6514:Mfsd13a
|
UTSW |
19 |
46,363,064 (GRCm39) |
splice site |
probably null |
|
|
R6558:Mfsd13a
|
UTSW |
19 |
46,354,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Mfsd13a
|
UTSW |
19 |
46,360,704 (GRCm39) |
missense |
probably benign |
|
|
R6649:Mfsd13a
|
UTSW |
19 |
46,356,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6653:Mfsd13a
|
UTSW |
19 |
46,356,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6911:Mfsd13a
|
UTSW |
19 |
46,357,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Mfsd13a
|
UTSW |
19 |
46,356,763 (GRCm39) |
nonsense |
probably null |
|
|
R7334:Mfsd13a
|
UTSW |
19 |
46,356,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Mfsd13a
|
UTSW |
19 |
46,357,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Mfsd13a
|
UTSW |
19 |
46,360,446 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8696:Mfsd13a
|
UTSW |
19 |
46,356,557 (GRCm39) |
missense |
probably benign |
|
|
R8771:Mfsd13a
|
UTSW |
19 |
46,360,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8857:Mfsd13a
|
UTSW |
19 |
46,356,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9056:Mfsd13a
|
UTSW |
19 |
46,354,900 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9432:Mfsd13a
|
UTSW |
19 |
46,354,868 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-12-18 |
Incidental Mutation