Incidental Mutation 'R8857:Mfsd13a'
ID |
675445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd13a
|
Ensembl Gene |
ENSMUSG00000025227 |
Gene Name |
major facilitator superfamily domain containing 13a |
Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
MMRRC Submission |
068677-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.495)
|
Stock # |
R8857 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
46345315-46363693 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46356567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 224
(D224G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086969]
[ENSMUST00000128041]
[ENSMUST00000128455]
[ENSMUST00000142994]
|
AlphaFold |
Q6PDE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086969
AA Change: D224G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000084189 Gene: ENSMUSG00000025227 AA Change: D224G
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: D224G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000119072 Gene: ENSMUSG00000025227 AA Change: D224G
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 |
probably benign
Transcript: ENSMUST00000142994
AA Change: D224G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122944 Gene: ENSMUSG00000025227 AA Change: D224G
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
8 |
318 |
7.8e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.0610 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
G |
A |
19: 57,119,287 (GRCm39) |
L266F |
possibly damaging |
Het |
Adgrf3 |
A |
T |
5: 30,402,065 (GRCm39) |
C654* |
probably null |
Het |
Adgrl1 |
C |
A |
8: 84,657,657 (GRCm39) |
A421D |
probably benign |
Het |
Adra1b |
C |
G |
11: 43,727,092 (GRCm39) |
|
probably benign |
Het |
Apba2 |
T |
A |
7: 64,399,939 (GRCm39) |
V710E |
possibly damaging |
Het |
Arhgef5 |
T |
C |
6: 43,264,558 (GRCm39) |
V1523A |
probably damaging |
Het |
AW551984 |
G |
C |
9: 39,511,831 (GRCm39) |
A60G |
probably damaging |
Het |
Bdh1 |
A |
T |
16: 31,265,450 (GRCm39) |
T42S |
probably benign |
Het |
C130073F10Rik |
G |
A |
4: 101,747,555 (GRCm39) |
P158L |
possibly damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,248,909 (GRCm39) |
K457* |
probably null |
Het |
Chd3 |
G |
A |
11: 69,253,146 (GRCm39) |
P223L |
probably benign |
Het |
Cnst |
T |
C |
1: 179,437,878 (GRCm39) |
S481P |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,703,485 (GRCm39) |
K3027N |
unknown |
Het |
Csf2rb2 |
T |
C |
15: 78,178,613 (GRCm39) |
D111G |
probably null |
Het |
Disc1 |
A |
C |
8: 125,891,870 (GRCm39) |
E641A |
probably damaging |
Het |
Fbln5 |
C |
A |
12: 101,726,990 (GRCm39) |
C320F |
probably damaging |
Het |
Fbn2 |
G |
A |
18: 58,286,933 (GRCm39) |
T242I |
probably damaging |
Het |
Frem1 |
T |
A |
4: 82,922,280 (GRCm39) |
|
probably benign |
Het |
Gpsm1 |
G |
C |
2: 26,230,457 (GRCm39) |
G469A |
possibly damaging |
Het |
Hic1 |
A |
G |
11: 75,056,228 (GRCm39) |
I887T |
probably benign |
Het |
Hltf |
T |
C |
3: 20,159,825 (GRCm39) |
V692A |
probably damaging |
Het |
Hsd17b13 |
A |
G |
5: 104,125,063 (GRCm39) |
L40P |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,298,587 (GRCm39) |
|
probably null |
Het |
Irf2bpl |
T |
C |
12: 86,929,359 (GRCm39) |
Y438C |
possibly damaging |
Het |
Itgb4 |
A |
T |
11: 115,871,853 (GRCm39) |
N219I |
probably benign |
Het |
Knop1 |
T |
C |
7: 118,451,949 (GRCm39) |
K257E |
|
Het |
Krtap19-5 |
A |
T |
16: 88,693,139 (GRCm39) |
F58I |
unknown |
Het |
L3mbtl2 |
T |
A |
15: 81,571,320 (GRCm39) |
F709L |
unknown |
Het |
Map1a |
G |
A |
2: 121,138,098 (GRCm39) |
R2924H |
probably damaging |
Het |
Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
Morc2a |
T |
A |
11: 3,627,484 (GRCm39) |
|
probably null |
Het |
Mptx2 |
T |
C |
1: 173,102,452 (GRCm39) |
E79G |
probably benign |
Het |
Nutm1 |
A |
G |
2: 112,081,523 (GRCm39) |
M380T |
probably benign |
Het |
Or5ac25 |
A |
T |
16: 59,182,041 (GRCm39) |
I180N |
probably damaging |
Het |
P2rx1 |
A |
G |
11: 72,903,197 (GRCm39) |
|
probably benign |
Het |
Padi4 |
A |
G |
4: 140,501,472 (GRCm39) |
I7T |
probably damaging |
Het |
Phf20l1 |
T |
C |
15: 66,513,781 (GRCm39) |
S1013P |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,521,556 (GRCm39) |
V1469A |
unknown |
Het |
Polr1g |
C |
T |
7: 19,093,355 (GRCm39) |
|
probably benign |
Het |
Prkab1 |
T |
C |
5: 116,158,147 (GRCm39) |
N150D |
probably damaging |
Het |
Qsox1 |
A |
G |
1: 155,658,333 (GRCm39) |
V412A |
possibly damaging |
Het |
Rai1 |
A |
G |
11: 60,077,393 (GRCm39) |
S486G |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,670,965 (GRCm39) |
Y170* |
probably null |
Het |
Rims2 |
T |
A |
15: 39,543,044 (GRCm39) |
M1426K |
possibly damaging |
Het |
Selenoi |
C |
A |
5: 30,461,160 (GRCm39) |
S132* |
probably null |
Het |
Shtn1 |
T |
C |
19: 58,978,800 (GRCm39) |
I498M |
probably damaging |
Het |
Sin3b |
T |
C |
8: 73,483,523 (GRCm39) |
M970T |
probably benign |
Het |
Slc17a8 |
A |
G |
10: 89,427,022 (GRCm39) |
F360L |
probably damaging |
Het |
Slc7a11 |
A |
G |
3: 50,393,305 (GRCm39) |
Y113H |
probably damaging |
Het |
Spast |
T |
A |
17: 74,675,938 (GRCm39) |
M327K |
possibly damaging |
Het |
Sphkap |
T |
A |
1: 83,258,288 (GRCm39) |
I152F |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,662,145 (GRCm39) |
S658T |
probably damaging |
Het |
Tmem174 |
G |
T |
13: 98,773,433 (GRCm39) |
H132Q |
probably damaging |
Het |
Tnfrsf10b |
G |
A |
14: 70,012,543 (GRCm39) |
V117I |
probably benign |
Het |
Tnr |
A |
G |
1: 159,713,728 (GRCm39) |
T719A |
probably benign |
Het |
Tomm34 |
G |
A |
2: 163,896,379 (GRCm39) |
P292S |
probably damaging |
Het |
Trav15-1-dv6-1 |
T |
A |
14: 53,797,615 (GRCm39) |
F88Y |
probably damaging |
Het |
Trp63 |
A |
T |
16: 25,639,226 (GRCm39) |
H138L |
probably damaging |
Het |
U2af2 |
T |
A |
7: 5,065,290 (GRCm39) |
S2T |
probably damaging |
Het |
Uroc1 |
T |
C |
6: 90,334,510 (GRCm39) |
V574A |
possibly damaging |
Het |
Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
Zfp488 |
A |
C |
14: 33,692,760 (GRCm39) |
S134R |
probably benign |
Het |
Zfp950 |
T |
C |
19: 61,116,001 (GRCm39) |
D2G |
probably benign |
Het |
Zfyve1 |
T |
A |
12: 83,598,374 (GRCm39) |
H618L |
probably damaging |
Het |
Zp1 |
T |
G |
19: 10,893,888 (GRCm39) |
D439A |
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 |
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 |
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'- ATGATGGCTTCCTGACGCTC -3'
(R):5'- AGGTGATGTTGCCTGCTTCC -3'
Sequencing Primer
(F):5'- ACCACCATGCCTTGCTGG -3'
(R):5'- CTCACCACCCACTGGCG -3'
|
Posted On |
2021-07-15 |