Incidental Mutation 'R6649:Mfsd13a'
ID |
527718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd13a
|
Ensembl Gene |
ENSMUSG00000025227 |
Gene Name |
major facilitator superfamily domain containing 13a |
Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
MMRRC Submission |
044770-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R6649 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
46345315-46363693 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46356305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 137
(F137L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086969]
[ENSMUST00000128041]
[ENSMUST00000128455]
[ENSMUST00000142994]
|
AlphaFold |
Q6PDE8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086969
AA Change: F137L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084189 Gene: ENSMUSG00000025227 AA Change: F137L
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 |
probably damaging
Transcript: ENSMUST00000128041
AA Change: F137L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119072 Gene: ENSMUSG00000025227 AA Change: F137L
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 |
probably damaging
Transcript: ENSMUST00000142994
AA Change: F137L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122944 Gene: ENSMUSG00000025227 AA Change: F137L
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
8 |
318 |
7.8e-17 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
A |
19: 43,800,941 (GRCm39) |
H627Q |
probably benign |
Het |
Abra |
G |
A |
15: 41,732,629 (GRCm39) |
L146F |
probably benign |
Het |
Adamts7 |
T |
C |
9: 90,073,990 (GRCm39) |
C857R |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,733,836 (GRCm39) |
|
probably null |
Het |
Asb15 |
A |
G |
6: 24,562,632 (GRCm39) |
N198S |
probably benign |
Het |
Asb16 |
A |
T |
11: 102,159,863 (GRCm39) |
Q72L |
possibly damaging |
Het |
Atosa |
T |
G |
9: 74,917,432 (GRCm39) |
L677R |
probably damaging |
Het |
Bbox1 |
G |
T |
2: 110,135,914 (GRCm39) |
H22N |
probably benign |
Het |
Bcdin3d |
T |
C |
15: 99,368,696 (GRCm39) |
T168A |
probably damaging |
Het |
Bmp1 |
A |
T |
14: 70,728,058 (GRCm39) |
W624R |
probably damaging |
Het |
Cdh18 |
A |
T |
15: 23,436,620 (GRCm39) |
Y492F |
possibly damaging |
Het |
Cep290 |
A |
C |
10: 100,354,393 (GRCm39) |
D848A |
probably benign |
Het |
Cip2a |
A |
T |
16: 48,837,829 (GRCm39) |
Q843L |
probably damaging |
Het |
Cmya5 |
G |
C |
13: 93,234,533 (GRCm39) |
S185C |
possibly damaging |
Het |
Cops9 |
C |
T |
1: 92,568,136 (GRCm39) |
|
probably benign |
Het |
Cutal |
C |
T |
2: 34,775,933 (GRCm39) |
T88I |
probably benign |
Het |
Dlg4 |
G |
T |
11: 69,914,779 (GRCm39) |
|
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Erp44 |
T |
C |
4: 48,205,130 (GRCm39) |
I288V |
probably null |
Het |
Fat3 |
T |
C |
9: 16,288,038 (GRCm39) |
D495G |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,798,161 (GRCm39) |
V485A |
possibly damaging |
Het |
Gm14496 |
A |
T |
2: 181,639,269 (GRCm39) |
H453L |
possibly damaging |
Het |
Gm17027 |
T |
C |
14: 41,981,236 (GRCm39) |
T207A |
unknown |
Het |
Gm6902 |
T |
G |
7: 22,973,159 (GRCm39) |
T123P |
possibly damaging |
Het |
Gpat2 |
T |
G |
2: 127,274,355 (GRCm39) |
W366G |
possibly damaging |
Het |
Heatr6 |
A |
T |
11: 83,650,191 (GRCm39) |
T216S |
probably benign |
Het |
Hsd17b14 |
T |
C |
7: 45,205,500 (GRCm39) |
V11A |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,266,110 (GRCm39) |
I517N |
probably benign |
Het |
Kmt5b |
G |
A |
19: 3,857,295 (GRCm39) |
G351R |
probably damaging |
Het |
Mau2 |
G |
T |
8: 70,484,166 (GRCm39) |
Q141K |
possibly damaging |
Het |
Mfsd14b |
A |
T |
13: 65,214,599 (GRCm39) |
I451N |
probably damaging |
Het |
Milr1 |
C |
T |
11: 106,648,537 (GRCm39) |
H143Y |
probably benign |
Het |
Mon2 |
T |
G |
10: 122,874,385 (GRCm39) |
K321T |
possibly damaging |
Het |
Nlrp9c |
T |
A |
7: 26,070,747 (GRCm39) |
N945Y |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,882,527 (GRCm39) |
R60G |
possibly damaging |
Het |
Or2z2 |
A |
T |
11: 58,346,394 (GRCm39) |
I127N |
probably damaging |
Het |
Or52b2 |
T |
C |
7: 104,986,914 (GRCm39) |
H3R |
probably benign |
Het |
Or8g20 |
A |
G |
9: 39,396,048 (GRCm39) |
V164A |
probably benign |
Het |
Papola |
A |
T |
12: 105,778,566 (GRCm39) |
I315L |
possibly damaging |
Het |
Phf3 |
A |
T |
1: 30,844,104 (GRCm39) |
S1618R |
possibly damaging |
Het |
Phyhipl |
A |
G |
10: 70,404,843 (GRCm39) |
F77L |
probably damaging |
Het |
Ppp3cb |
A |
G |
14: 20,581,094 (GRCm39) |
L110P |
probably damaging |
Het |
Prss53 |
T |
G |
7: 127,485,747 (GRCm39) |
E531A |
probably benign |
Het |
Raf1 |
A |
T |
6: 115,608,302 (GRCm39) |
H236Q |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,610,529 (GRCm39) |
V4099A |
probably damaging |
Het |
Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
Sh3pxd2b |
T |
C |
11: 32,365,978 (GRCm39) |
|
probably null |
Het |
Slco6c1 |
C |
T |
1: 97,053,436 (GRCm39) |
S155N |
probably benign |
Het |
Speer4f2 |
A |
G |
5: 17,580,767 (GRCm39) |
T115A |
probably benign |
Het |
Spry1 |
T |
C |
3: 37,696,871 (GRCm39) |
I38T |
probably damaging |
Het |
Tagap |
T |
C |
17: 8,152,546 (GRCm39) |
V577A |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,200,935 (GRCm39) |
H4706Q |
possibly damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,820,160 (GRCm39) |
L11Q |
probably null |
Het |
Zfp60 |
T |
C |
7: 27,448,151 (GRCm39) |
F273S |
probably benign |
Het |
Zfp938 |
A |
T |
10: 82,061,232 (GRCm39) |
Y463N |
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 |
IGL02955:Mfsd13a
|
APN |
19 |
46,356,192 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGCCCTGGTGTAAAGGTTAC -3'
(R):5'- GCAGCTAGTACCACACAGAAGG -3'
Sequencing Primer
(F):5'- CTGGTGTAAAGGTTACCTCCTAACAC -3'
(R):5'- TAGTACCACACAGAAGGCACGG -3'
|
Posted On |
2018-07-23 |