Incidental Mutation 'R3415:Mfsd13a'
| ID |
266789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd13a
|
| Ensembl Gene |
ENSMUSG00000025227 |
| Gene Name |
major facilitator superfamily domain containing 13a |
| Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
| MMRRC Submission |
040633-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R3415 (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: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc39 |
C |
G |
3: 33,868,646 (GRCm39) |
L813F |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,401,946 (GRCm39) |
D116V |
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,529,043 (GRCm39) |
E340G |
probably benign |
Het |
| Cmip |
T |
A |
8: 118,076,116 (GRCm39) |
|
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,056,325 (GRCm39) |
Y309C |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Dph6 |
C |
T |
2: 114,348,768 (GRCm39) |
V267I |
probably benign |
Het |
| Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
| Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Lims2 |
A |
T |
18: 32,077,208 (GRCm39) |
Y58F |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
| Mmp1a |
A |
T |
9: 7,464,869 (GRCm39) |
K34N |
possibly damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
| P2rx5 |
G |
T |
11: 73,051,486 (GRCm39) |
V22L |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,879 (GRCm39) |
R245G |
possibly damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,009,245 (GRCm39) |
T334A |
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,629 (GRCm39) |
Y301H |
probably damaging |
Het |
| Unc13c |
G |
T |
9: 73,839,868 (GRCm39) |
H328N |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,188,421 (GRCm39) |
D153G |
probably benign |
Het |
| Zp3 |
A |
G |
5: 136,014,514 (GRCm39) |
T278A |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
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 |
|
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'- GCGAAAAGTACAAGACATTGTCTG -3'
(R):5'- GGTACCCTCAGTGAAGACAC -3'
Sequencing Primer
(F):5'- AGTACAAGACATTGTCTGTTGGC -3'
(R):5'- TGAAGACACGGTTGCTGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation