Incidental Mutation 'R4393:Mfsd13a'
| ID |
326505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd13a
|
| Ensembl Gene |
ENSMUSG00000025227 |
| Gene Name |
major facilitator superfamily domain containing 13a |
| Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
| MMRRC Submission |
041128-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R4393 (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: 99.6%
- 3x: 98.7%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
95% (71/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
C |
A |
9: 3,134,944 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,665,222 (GRCm39) |
V1353A |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,188,544 (GRCm39) |
N620K |
probably benign |
Het |
| Clcnkb |
A |
G |
4: 141,139,547 (GRCm39) |
S152P |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
G |
A |
19: 37,675,105 (GRCm39) |
R142H |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,228,057 (GRCm39) |
|
probably null |
Het |
| Dnai7 |
T |
C |
6: 145,140,304 (GRCm39) |
T166A |
possibly damaging |
Het |
| Ebf3 |
C |
T |
7: 136,826,886 (GRCm39) |
R342H |
probably damaging |
Het |
| Ece2 |
T |
C |
16: 20,451,598 (GRCm39) |
V380A |
probably damaging |
Het |
| Epb41l4a |
C |
T |
18: 34,024,473 (GRCm39) |
|
probably null |
Het |
| Erbb3 |
G |
T |
10: 128,408,639 (GRCm39) |
Q815K |
probably damaging |
Het |
| Ercc3 |
T |
A |
18: 32,398,674 (GRCm39) |
M651K |
probably benign |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
C |
6: 15,377,689 (GRCm39) |
|
probably benign |
Het |
| Gdf10 |
T |
C |
14: 33,654,695 (GRCm39) |
Y401H |
probably damaging |
Het |
| Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
| Gm6408 |
A |
T |
5: 146,419,147 (GRCm39) |
D54V |
probably damaging |
Het |
| H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,751,583 (GRCm39) |
E403G |
unknown |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
A |
9: 44,293,169 (GRCm39) |
V125E |
probably damaging |
Het |
| Il11ra1 |
T |
C |
4: 41,768,577 (GRCm39) |
|
probably null |
Het |
| Immt |
T |
A |
6: 71,849,784 (GRCm39) |
S435T |
probably benign |
Het |
| Kcnip2 |
A |
G |
19: 45,800,669 (GRCm39) |
L19P |
probably benign |
Het |
| Kctd2 |
T |
C |
11: 115,320,326 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,754,482 (GRCm39) |
T4666M |
possibly damaging |
Het |
| Msl2 |
A |
G |
9: 100,978,676 (GRCm39) |
E350G |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,467,866 (GRCm39) |
K373N |
probably damaging |
Het |
| Nr5a1 |
T |
C |
2: 38,584,231 (GRCm39) |
E396G |
probably damaging |
Het |
| Ogdh |
G |
A |
11: 6,266,772 (GRCm39) |
G141D |
probably damaging |
Het |
| Or10q1b |
T |
C |
19: 13,682,554 (GRCm39) |
I121T |
possibly damaging |
Het |
| Or2h2c |
T |
C |
17: 37,424,971 (GRCm39) |
|
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,476,256 (GRCm39) |
C70* |
probably null |
Het |
| Orc2 |
C |
A |
1: 58,506,809 (GRCm39) |
|
probably null |
Het |
| P4ha3 |
C |
T |
7: 99,954,814 (GRCm39) |
P291S |
probably benign |
Het |
| Pign |
T |
C |
1: 105,449,751 (GRCm39) |
K925R |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,267,791 (GRCm39) |
S727P |
possibly damaging |
Het |
| Prr36 |
G |
T |
8: 4,264,901 (GRCm39) |
|
probably benign |
Het |
| Prrt3 |
A |
G |
6: 113,471,907 (GRCm39) |
L755P |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,808,502 (GRCm39) |
H89R |
probably damaging |
Het |
| Sgms2 |
A |
T |
3: 131,135,466 (GRCm39) |
|
probably null |
Het |
| Slc35d3 |
T |
C |
10: 19,725,352 (GRCm39) |
|
probably null |
Het |
| Slu7 |
T |
A |
11: 43,330,096 (GRCm39) |
N174K |
possibly damaging |
Het |
| Teddm1a |
G |
T |
1: 153,768,192 (GRCm39) |
D219Y |
probably damaging |
Het |
| Tgtp1 |
C |
A |
11: 48,878,450 (GRCm39) |
G85V |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,759,242 (GRCm39) |
T169A |
probably benign |
Het |
| Tmem69 |
C |
T |
4: 116,411,964 (GRCm39) |
|
probably null |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Vwa3b |
T |
C |
1: 37,084,259 (GRCm39) |
V144A |
probably damaging |
Het |
| Zdhhc21 |
A |
G |
4: 82,765,891 (GRCm39) |
C15R |
possibly damaging |
Het |
| Zfp142 |
T |
C |
1: 74,611,219 (GRCm39) |
T756A |
probably benign |
Het |
| Zfp606 |
C |
T |
7: 12,226,776 (GRCm39) |
S241F |
probably damaging |
Het |
| Zfp804a |
A |
T |
2: 82,087,265 (GRCm39) |
T365S |
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 |
|
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'- TACAAGACATTGTCTGTTGGCAATG -3'
(R):5'- CAGCTTACAGGTACCCTCAG -3'
Sequencing Primer
(F):5'- ACATTGTCTGTTGGCAATGAATGC -3'
(R):5'- GCTTACAGGTACCCTCAGTGAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation