Incidental Mutation 'R5289:Mfsd13a'
| ID |
424623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd13a
|
| Ensembl Gene |
ENSMUSG00000025227 |
| Gene Name |
major facilitator superfamily domain containing 13a |
| Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
| MMRRC Submission |
042872-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R5289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46345315-46363693 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46356719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 240
(E240G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086969]
[ENSMUST00000128041]
[ENSMUST00000128455]
[ENSMUST00000142994]
|
| AlphaFold |
Q6PDE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086969
AA Change: E240G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: E240G
| 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 benign
Transcript: ENSMUST00000128041
AA Change: E240G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: E240G
| 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
AA Change: E240G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227
AA Change: E240G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
8 |
318 |
7.8e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,669,203 (GRCm39) |
V1731A |
probably benign |
Het |
| Ahcyl1 |
A |
G |
3: 107,577,206 (GRCm39) |
|
probably null |
Het |
| Aox1 |
T |
A |
1: 58,131,717 (GRCm39) |
M1042K |
probably damaging |
Het |
| Atp10d |
C |
A |
5: 72,412,466 (GRCm39) |
Q590K |
probably benign |
Het |
| Atp8b1 |
G |
T |
18: 64,679,158 (GRCm39) |
N774K |
possibly damaging |
Het |
| Atrnl1 |
C |
T |
19: 57,645,514 (GRCm39) |
T458M |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,054,258 (GRCm39) |
Q3126K |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,943,910 (GRCm39) |
C99* |
probably null |
Het |
| Cnr2 |
A |
G |
4: 135,644,318 (GRCm39) |
Y132C |
probably damaging |
Het |
| Commd9 |
C |
T |
2: 101,729,239 (GRCm39) |
A115V |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,219,114 (GRCm39) |
F426S |
probably damaging |
Het |
| Diras1 |
G |
A |
10: 80,858,078 (GRCm39) |
Q58* |
probably null |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,608 (GRCm39) |
I197F |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,293 (GRCm39) |
L56P |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,234,910 (GRCm39) |
V248D |
possibly damaging |
Het |
| Frem3 |
A |
G |
8: 81,338,948 (GRCm39) |
M414V |
probably benign |
Het |
| Frmd4b |
G |
T |
6: 97,279,309 (GRCm39) |
|
probably null |
Het |
| Gabarapl2 |
T |
C |
8: 112,669,227 (GRCm39) |
W62R |
probably damaging |
Het |
| Glt1d1 |
A |
G |
5: 127,721,420 (GRCm39) |
R36G |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,894,924 (GRCm39) |
|
silent |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hc |
A |
G |
2: 34,886,026 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
G |
16: 37,448,913 (GRCm39) |
E379G |
possibly damaging |
Het |
| Ifi30 |
A |
T |
8: 71,219,245 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,388,472 (GRCm39) |
I842V |
possibly damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,363,659 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
| Lama2 |
C |
A |
10: 27,088,069 (GRCm39) |
G903* |
probably null |
Het |
| Lrrc10 |
T |
C |
10: 116,881,392 (GRCm39) |
V22A |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,478,021 (GRCm39) |
E245G |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,958,222 (GRCm39) |
T246A |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,550,549 (GRCm39) |
I735T |
possibly damaging |
Het |
| Naa15 |
A |
T |
3: 51,363,315 (GRCm39) |
H333L |
probably damaging |
Het |
| Nes |
C |
A |
3: 87,885,725 (GRCm39) |
T1284K |
probably damaging |
Het |
| Nexn |
T |
G |
3: 151,953,709 (GRCm39) |
H173P |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,855,379 (GRCm39) |
V1173A |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,131,753 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
T |
A |
4: 99,824,266 (GRCm39) |
M313K |
probably damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,545 (GRCm39) |
K48N |
probably damaging |
Het |
| Prok1 |
G |
C |
3: 107,146,935 (GRCm39) |
L11V |
probably benign |
Het |
| Ptpn9 |
T |
C |
9: 56,967,347 (GRCm39) |
|
probably null |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc38a4 |
A |
T |
15: 96,908,229 (GRCm39) |
F171I |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,841,569 (GRCm39) |
N78K |
possibly damaging |
Het |
| Tas2r110 |
T |
C |
6: 132,844,972 (GRCm39) |
M1T |
probably null |
Het |
| Thoc2l |
G |
A |
5: 104,667,523 (GRCm39) |
V682I |
probably benign |
Het |
| Tmem260 |
G |
A |
14: 48,724,267 (GRCm39) |
V182M |
possibly damaging |
Het |
| Tmem30a |
A |
T |
9: 79,683,436 (GRCm39) |
N144K |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,866 (GRCm39) |
L219P |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,398 (GRCm39) |
S784P |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,644,473 (GRCm39) |
|
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,967,300 (GRCm39) |
V318G |
probably damaging |
Het |
| Zfp398 |
T |
A |
6: 47,840,115 (GRCm39) |
S115T |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,107,975 (GRCm39) |
C689S |
probably damaging |
Het |
| Zmynd15 |
C |
G |
11: 70,356,830 (GRCm39) |
P580R |
unknown |
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 |
|
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'- TTATTGAAGCGGCAGATTGAAGC -3'
(R):5'- TATGGATGAAGACAGGCCCTG -3'
Sequencing Primer
(F):5'- CGGCAGATTGAAGCGACCAG -3'
(R):5'- GGCTCTGGATTCAACAATTCTAGGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation