Incidental Mutation 'R1367:Mfsd13a'
| ID |
156101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd13a
|
| Ensembl Gene |
ENSMUSG00000025227 |
| Gene Name |
major facilitator superfamily domain containing 13a |
| Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
| MMRRC Submission |
039432-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R1367 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46345315-46363693 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46354943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 40
(T40I)
|
| 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: T40I
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: T40I
| 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: T40I
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: T40I
| 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: T40I
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227
AA Change: T40I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
8 |
318 |
7.8e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.0965 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 86.6%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
C |
16: 14,261,250 (GRCm39) |
V676A |
probably damaging |
Het |
| Acvr1b |
T |
C |
15: 101,091,819 (GRCm39) |
L33P |
possibly damaging |
Het |
| Adamts12 |
T |
G |
15: 11,256,980 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,601,819 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 14,990,225 (GRCm39) |
D233E |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,899,084 (GRCm39) |
*209W |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,230,742 (GRCm39) |
V825A |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,563,290 (GRCm39) |
F1575L |
probably damaging |
Het |
| Exoc2 |
A |
T |
13: 31,066,256 (GRCm39) |
Y473* |
probably null |
Het |
| F3 |
A |
G |
3: 121,523,023 (GRCm39) |
T78A |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Gga2 |
G |
A |
7: 121,598,138 (GRCm39) |
R319* |
probably null |
Het |
| Gid8 |
A |
G |
2: 180,355,025 (GRCm39) |
I10M |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,311 (GRCm39) |
W139R |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
| Hectd3 |
G |
T |
4: 116,854,367 (GRCm39) |
V310L |
probably null |
Het |
| Insyn1 |
G |
T |
9: 58,406,263 (GRCm39) |
D58Y |
probably damaging |
Het |
| Kif17 |
C |
A |
4: 138,005,305 (GRCm39) |
S290* |
probably null |
Het |
| Kif26b |
A |
G |
1: 178,744,028 (GRCm39) |
N1375D |
probably damaging |
Het |
| Lgr4 |
C |
G |
2: 109,821,480 (GRCm39) |
P121A |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,124,102 (GRCm39) |
|
probably null |
Het |
| Nek3 |
T |
C |
8: 22,650,377 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
T |
12: 70,090,703 (GRCm39) |
L904Q |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,782,018 (GRCm39) |
D405G |
probably benign |
Het |
| Nuak1 |
C |
T |
10: 84,228,192 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,341,977 (GRCm39) |
W1113R |
probably damaging |
Het |
| Pms2 |
G |
A |
5: 143,862,731 (GRCm39) |
V613M |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Pxk |
T |
G |
14: 8,150,915 (GRCm38) |
|
probably null |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,820,119 (GRCm39) |
|
probably benign |
Het |
| Slc41a1 |
A |
G |
1: 131,771,746 (GRCm39) |
T387A |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,254,322 (GRCm39) |
V228A |
probably benign |
Het |
| Slpi |
A |
G |
2: 164,196,787 (GRCm39) |
|
probably benign |
Het |
| Tkfc |
A |
G |
19: 10,570,838 (GRCm39) |
S481P |
probably benign |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,398,704 (GRCm39) |
H1216R |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,973 (GRCm39) |
S20T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,371,774 (GRCm39) |
S967T |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zdhhc23 |
A |
G |
16: 43,794,513 (GRCm39) |
S54P |
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 |
|
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 |
|
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'- GACTAATAGGCAACCGCAGAGCTAC -3'
(R):5'- TGCTAAACAGCACAGTCTGCCC -3'
Sequencing Primer
(F):5'- ccgcagagctacagacc -3'
(R):5'- GCACAGTCTGCCCAAAAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation