Incidental Mutation 'R4396:Mfsd13a'
ID |
325517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd13a
|
Ensembl Gene |
ENSMUSG00000025227 |
Gene Name |
major facilitator superfamily domain containing 13a |
Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
MMRRC Submission |
041129-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R4396 (G1)
|
Quality Score |
225 |
Status
|
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: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
C |
7: 119,195,143 (GRCm39) |
F552L |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,325,765 (GRCm39) |
L70P |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,751,552 (GRCm39) |
S1071P |
probably benign |
Het |
Cd200r1 |
T |
A |
16: 44,586,417 (GRCm39) |
W16R |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,863,478 (GRCm39) |
N120D |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,549,947 (GRCm39) |
T317A |
unknown |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,718,361 (GRCm39) |
L1683P |
probably damaging |
Het |
Dynll1 |
A |
T |
5: 115,438,700 (GRCm39) |
C2S |
probably benign |
Het |
Elp2 |
T |
A |
18: 24,742,707 (GRCm39) |
S80T |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
Fzd3 |
A |
G |
14: 65,473,054 (GRCm39) |
I238T |
probably damaging |
Het |
Galnt7 |
A |
T |
8: 57,991,215 (GRCm39) |
F432I |
probably damaging |
Het |
Gemin5 |
T |
A |
11: 58,030,375 (GRCm39) |
T817S |
probably benign |
Het |
Gm5414 |
T |
G |
15: 101,534,101 (GRCm39) |
E294A |
probably damaging |
Het |
H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Kcnj4 |
C |
A |
15: 79,368,874 (GRCm39) |
A369S |
probably benign |
Het |
Llgl1 |
T |
C |
11: 60,596,834 (GRCm39) |
V145A |
probably benign |
Het |
Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
Mettl2 |
A |
G |
11: 105,017,604 (GRCm39) |
D38G |
probably damaging |
Het |
Mpp4 |
T |
C |
1: 59,183,961 (GRCm39) |
I260V |
possibly damaging |
Het |
Mtcl1 |
T |
C |
17: 66,651,220 (GRCm39) |
E1112G |
probably damaging |
Het |
Mtus2 |
T |
A |
5: 148,140,748 (GRCm39) |
N871K |
possibly damaging |
Het |
Mylk |
C |
T |
16: 34,732,645 (GRCm39) |
Q642* |
probably null |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Or4f57 |
A |
G |
2: 111,790,560 (GRCm39) |
I286T |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,387,732 (GRCm39) |
D875E |
probably benign |
Het |
Piezo1 |
G |
T |
8: 123,225,413 (GRCm39) |
T557K |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,929,291 (GRCm39) |
V49A |
possibly damaging |
Het |
Pramel6 |
A |
T |
2: 87,338,874 (GRCm39) |
I25F |
probably damaging |
Het |
Rreb1 |
C |
T |
13: 38,114,419 (GRCm39) |
Q593* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
Scnn1g |
T |
G |
7: 121,339,650 (GRCm39) |
S150A |
probably benign |
Het |
Sec24a |
A |
G |
11: 51,605,991 (GRCm39) |
F686L |
possibly damaging |
Het |
Sirt1 |
T |
C |
10: 63,157,777 (GRCm39) |
T546A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Traf5 |
A |
T |
1: 191,729,806 (GRCm39) |
V415E |
probably benign |
Het |
Traip |
C |
G |
9: 107,836,686 (GRCm39) |
T110S |
probably benign |
Het |
Treml2 |
T |
C |
17: 48,615,142 (GRCm39) |
V209A |
probably benign |
Het |
Trpv5 |
T |
C |
6: 41,634,830 (GRCm39) |
S500G |
probably benign |
Het |
Usp32 |
G |
A |
11: 84,944,801 (GRCm39) |
L296F |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zswim1 |
A |
G |
2: 164,667,369 (GRCm39) |
D207G |
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 |
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'- GACATTGTCTGTTGGCAATGAATGC -3'
(R):5'- TCAGCAGCTTACAGGTACCC -3'
Sequencing Primer
(F):5'- TGCAAACTGACCCCGATTATTAC -3'
(R):5'- GCTTACAGGTACCCTCAGTGAAG -3'
|
Posted On |
2015-07-06 |