Incidental Mutation 'R2846:Mfsd13a'
ID |
251641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd13a
|
Ensembl Gene |
ENSMUSG00000025227 |
Gene Name |
major facilitator superfamily domain containing 13a |
Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
MMRRC Submission |
040439-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
R2846 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
46345315-46363693 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 46360431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 328
(R328C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040270]
[ENSMUST00000086969]
[ENSMUST00000128041]
[ENSMUST00000128455]
[ENSMUST00000142994]
|
AlphaFold |
Q6PDE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040270
|
SMART Domains |
Protein: ENSMUSP00000039844 Gene: ENSMUSG00000025228
Domain | Start | End | E-Value | Type |
ACTIN
|
9 |
376 |
4.18e-203 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086969
AA Change: R328C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084189 Gene: ENSMUSG00000025227 AA Change: R328C
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: R328C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119072 Gene: ENSMUSG00000025227 AA Change: R328C
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 benign
Transcript: ENSMUST00000142994
|
SMART Domains |
Protein: ENSMUSP00000122944 Gene: ENSMUSG00000025227
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
8 |
318 |
7.8e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.3030 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cdnf |
T |
A |
2: 3,514,165 (GRCm39) |
M1K |
probably null |
Het |
Ddx4 |
T |
A |
13: 112,741,146 (GRCm39) |
K496M |
probably damaging |
Het |
Dlg1 |
T |
C |
16: 31,682,015 (GRCm39) |
S779P |
probably damaging |
Het |
Dtna |
T |
A |
18: 23,784,560 (GRCm39) |
|
probably null |
Het |
Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
Gal3st2c |
A |
T |
1: 93,924,122 (GRCm39) |
Q8L |
possibly damaging |
Het |
Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
Irs4 |
C |
A |
X: 140,507,336 (GRCm39) |
G287W |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,818,667 (GRCm39) |
I1570V |
probably benign |
Het |
Kremen1 |
GG |
GGGCG |
11: 5,151,793 (GRCm39) |
|
probably benign |
Het |
Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,255,085 (GRCm39) |
V521A |
probably damaging |
Het |
Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
Pdgfrb |
C |
T |
18: 61,197,088 (GRCm39) |
P175S |
probably benign |
Het |
Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
Prr12 |
G |
C |
7: 44,695,436 (GRCm39) |
S1343R |
unknown |
Het |
Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
Qpct |
A |
G |
17: 79,378,171 (GRCm39) |
T114A |
probably damaging |
Het |
Sec24d |
A |
G |
3: 123,144,395 (GRCm39) |
D624G |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,623,792 (GRCm39) |
Y259C |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Smarcb1 |
C |
A |
10: 75,733,375 (GRCm39) |
R332L |
probably damaging |
Het |
Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
St18 |
T |
A |
1: 6,915,811 (GRCm39) |
C819S |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,732,230 (GRCm39) |
N180D |
possibly damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
Tmem204 |
G |
A |
17: 25,299,307 (GRCm39) |
H71Y |
probably benign |
Het |
Vmn1r212 |
A |
G |
13: 23,068,262 (GRCm39) |
S24P |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
Zmiz1 |
A |
G |
14: 25,646,099 (GRCm39) |
S259G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGACATTGTCTGTTGGCAATG -3'
(R):5'- AGCAGCTTACAGGTACCCTCAG -3'
Sequencing Primer
(F):5'- ACATTGTCTGTTGGCAATGAATGC -3'
(R):5'- GCTTACAGGTACCCTCAGTGAAG -3'
|
Posted On |
2014-12-04 |