Incidental Mutation 'R7525:Mfsd13a'
ID |
582953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd13a
|
Ensembl Gene |
ENSMUSG00000025227 |
Gene Name |
major facilitator superfamily domain containing 13a |
Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
MMRRC Submission |
045597-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R7525 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
46345315-46363693 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46357716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 290
(F290S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086969]
[ENSMUST00000128041]
[ENSMUST00000128455]
[ENSMUST00000142994]
|
AlphaFold |
Q6PDE8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086969
AA Change: F290S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084189 Gene: ENSMUSG00000025227 AA Change: F290S
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: F290S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119072 Gene: ENSMUSG00000025227 AA Change: F290S
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 |
probably damaging
Transcript: ENSMUST00000142994
AA Change: F290S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122944 Gene: ENSMUSG00000025227 AA Change: F290S
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
8 |
318 |
7.8e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.9336 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,331,221 (GRCm39) |
T998A |
probably damaging |
Het |
Aadacl4fm2 |
A |
G |
4: 144,291,580 (GRCm39) |
F42S |
probably damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Akt3 |
T |
A |
1: 176,847,673 (GRCm39) |
K465* |
probably null |
Het |
Ankar |
T |
C |
1: 72,727,800 (GRCm39) |
D371G |
probably benign |
Het |
Ankib1 |
T |
G |
5: 3,805,734 (GRCm39) |
N178H |
possibly damaging |
Het |
Arhgap10 |
A |
G |
8: 78,146,699 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,848,785 (GRCm39) |
D286G |
probably damaging |
Het |
Bsdc1 |
A |
T |
4: 129,355,477 (GRCm39) |
|
probably benign |
Het |
Camk4 |
T |
C |
18: 33,318,085 (GRCm39) |
V414A |
probably benign |
Het |
Cyp2d9 |
T |
A |
15: 82,338,293 (GRCm39) |
V139E |
possibly damaging |
Het |
Dhrs13 |
C |
A |
11: 77,923,260 (GRCm39) |
N21K |
unknown |
Het |
Dop1a |
C |
T |
9: 86,388,343 (GRCm39) |
A439V |
probably damaging |
Het |
Dpy19l4 |
G |
A |
4: 11,317,160 (GRCm39) |
Q13* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,847,038 (GRCm39) |
I508T |
possibly damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,823,716 (GRCm39) |
S388P |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,581,974 (GRCm39) |
S251G |
probably benign |
Het |
Eml4 |
T |
A |
17: 83,753,379 (GRCm39) |
L350Q |
probably damaging |
Het |
Fblim1 |
A |
T |
4: 141,317,391 (GRCm39) |
L98H |
probably damaging |
Het |
Fcrl6 |
T |
A |
1: 172,425,239 (GRCm39) |
N264I |
probably benign |
Het |
Gzme |
A |
C |
14: 56,356,790 (GRCm39) |
D57E |
probably benign |
Het |
H2-D1 |
A |
G |
17: 35,484,909 (GRCm39) |
T257A |
probably damaging |
Het |
Hectd4 |
C |
A |
5: 121,481,728 (GRCm39) |
D3092E |
possibly damaging |
Het |
Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
Hspbp1 |
A |
G |
7: 4,666,435 (GRCm39) |
L315P |
probably damaging |
Het |
Insr |
A |
T |
8: 3,242,642 (GRCm39) |
Y591N |
probably damaging |
Het |
Lrch4 |
T |
A |
5: 137,637,727 (GRCm39) |
I582N |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,794,450 (GRCm39) |
K505E |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,547,428 (GRCm39) |
N4251K |
|
Het |
Mgam |
T |
G |
6: 40,742,954 (GRCm39) |
N1791K |
probably benign |
Het |
Mroh7 |
A |
T |
4: 106,566,899 (GRCm39) |
I450N |
probably benign |
Het |
Mylk |
G |
A |
16: 34,809,357 (GRCm39) |
M1771I |
probably benign |
Het |
Or10ak12 |
A |
T |
4: 118,666,691 (GRCm39) |
F123L |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,338 (GRCm39) |
C34* |
probably null |
Het |
Or8d1 |
A |
T |
9: 38,766,534 (GRCm39) |
M59L |
possibly damaging |
Het |
Or8g55 |
T |
A |
9: 39,785,435 (GRCm39) |
L288* |
probably null |
Het |
Parp14 |
A |
T |
16: 35,677,861 (GRCm39) |
H702Q |
probably benign |
Het |
Pcdhga1 |
T |
C |
18: 37,795,281 (GRCm39) |
L95P |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,619,954 (GRCm39) |
T373A |
probably damaging |
Het |
Pdzph1 |
A |
G |
17: 59,274,336 (GRCm39) |
V836A |
possibly damaging |
Het |
Pgap1 |
T |
A |
1: 54,570,081 (GRCm39) |
N322I |
probably benign |
Het |
Pikfyve |
C |
T |
1: 65,283,585 (GRCm39) |
R741* |
probably null |
Het |
Pip4k2c |
A |
G |
10: 127,044,773 (GRCm39) |
S80P |
probably damaging |
Het |
Plekhh3 |
A |
G |
11: 101,057,445 (GRCm39) |
F271L |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,490,191 (GRCm39) |
Y565F |
probably damaging |
Het |
Prom2 |
T |
C |
2: 127,374,701 (GRCm39) |
R612G |
probably benign |
Het |
Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
Ptch1 |
C |
T |
13: 63,659,528 (GRCm39) |
R1375H |
probably benign |
Het |
Slc24a3 |
A |
C |
2: 145,455,450 (GRCm39) |
K446N |
probably benign |
Het |
Slc39a12 |
T |
A |
2: 14,499,272 (GRCm39) |
M661K |
probably benign |
Het |
Slc6a16 |
T |
C |
7: 44,908,537 (GRCm39) |
L39P |
probably benign |
Het |
Syne1 |
T |
G |
10: 5,135,559 (GRCm39) |
|
probably null |
Het |
Taar8c |
T |
C |
10: 23,977,764 (GRCm39) |
N16S |
probably benign |
Het |
Tmem98 |
A |
G |
11: 80,708,344 (GRCm39) |
T105A |
probably damaging |
Het |
Tmub1 |
T |
A |
5: 24,651,011 (GRCm39) |
Y216F |
probably damaging |
Het |
Trim16 |
T |
G |
11: 62,711,580 (GRCm39) |
C84G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,561,573 (GRCm39) |
K28978* |
probably null |
Het |
Usp38 |
A |
G |
8: 81,740,875 (GRCm39) |
V64A |
probably damaging |
Het |
Vmn2r63 |
A |
T |
7: 42,576,406 (GRCm39) |
F469Y |
possibly damaging |
Het |
Vmn2r74 |
A |
G |
7: 85,610,510 (GRCm39) |
W61R |
probably benign |
Het |
Whamm |
G |
T |
7: 81,243,598 (GRCm39) |
G607C |
probably damaging |
Het |
Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
Zfp398 |
A |
G |
6: 47,842,752 (GRCm39) |
D268G |
probably benign |
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 |
|
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 |
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'- ATTCCATAGGCCACAAGGGATTG -3'
(R):5'- TGCACTTTGTCACAGTGCC -3'
Sequencing Primer
(F):5'- GCCACAAGGGATTGTCATTTAG -3'
(R):5'- TCACAGTGCCTCTGGGTGTC -3'
|
Posted On |
2019-10-17 |