Incidental Mutation 'R0113:Mfsd13a'
ID |
60542 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd13a
|
Ensembl Gene |
ENSMUSG00000025227 |
Gene Name |
major facilitator superfamily domain containing 13a |
Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
MMRRC Submission |
038399-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
R0113 (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 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: 99.2%
- 3x: 98.1%
- 10x: 95.2%
- 20x: 87.5%
|
Validation Efficiency |
99% (70/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3930402G23Rik |
A |
G |
8: 10,976,126 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
A |
T |
11: 9,242,114 (GRCm39) |
I1326F |
possibly damaging |
Het |
Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
Aspscr1 |
C |
G |
11: 120,579,751 (GRCm39) |
Q97E |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,984,330 (GRCm39) |
|
probably benign |
Het |
Atcay |
A |
T |
10: 81,050,554 (GRCm39) |
|
probably null |
Het |
Brme1 |
C |
T |
8: 84,893,871 (GRCm39) |
T311I |
probably damaging |
Het |
C4b |
T |
A |
17: 34,960,214 (GRCm39) |
Y279F |
probably damaging |
Het |
Cav1 |
A |
T |
6: 17,308,048 (GRCm39) |
S67C |
possibly damaging |
Het |
Ceacam23 |
G |
A |
7: 17,642,873 (GRCm39) |
|
noncoding transcript |
Het |
Celf2 |
A |
C |
2: 6,629,525 (GRCm39) |
H113Q |
probably damaging |
Het |
Cep170 |
A |
C |
1: 176,586,021 (GRCm39) |
N590K |
probably damaging |
Het |
Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
Chrna1 |
C |
A |
2: 73,397,180 (GRCm39) |
D370Y |
possibly damaging |
Het |
Csmd1 |
C |
A |
8: 16,034,849 (GRCm39) |
G2441C |
probably damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,038,495 (GRCm39) |
D984N |
possibly damaging |
Het |
Dhrs1 |
T |
C |
14: 55,977,396 (GRCm39) |
T241A |
probably benign |
Het |
Edar |
A |
C |
10: 58,465,271 (GRCm39) |
C31G |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,514,682 (GRCm39) |
S24P |
possibly damaging |
Het |
Fam149a |
T |
C |
8: 45,794,061 (GRCm39) |
E669G |
probably damaging |
Het |
Fcrla |
A |
T |
1: 170,749,868 (GRCm39) |
M1K |
probably null |
Het |
G3bp1 |
T |
A |
11: 55,386,252 (GRCm39) |
V237E |
probably benign |
Het |
Galnt5 |
A |
G |
2: 57,888,889 (GRCm39) |
E163G |
probably benign |
Het |
Gpr87 |
T |
C |
3: 59,086,932 (GRCm39) |
D192G |
possibly damaging |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Ints1 |
T |
C |
5: 139,750,968 (GRCm39) |
T810A |
|
Het |
Kalrn |
A |
G |
16: 33,870,306 (GRCm39) |
|
probably benign |
Het |
Kcnk6 |
T |
C |
7: 28,931,634 (GRCm39) |
D92G |
probably damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Mfsd6 |
A |
T |
1: 52,748,348 (GRCm39) |
N172K |
probably damaging |
Het |
Mtcl1 |
G |
T |
17: 66,661,237 (GRCm39) |
Q1225K |
possibly damaging |
Het |
Nav2 |
C |
T |
7: 49,185,701 (GRCm39) |
T948M |
probably damaging |
Het |
Nfic |
T |
C |
10: 81,256,419 (GRCm39) |
K104E |
probably damaging |
Het |
Nup58 |
G |
A |
14: 60,488,740 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,965,241 (GRCm39) |
K1608N |
probably damaging |
Het |
Or10n1 |
T |
A |
9: 39,525,298 (GRCm39) |
I145K |
probably benign |
Het |
Or1j21 |
G |
A |
2: 36,684,006 (GRCm39) |
G253R |
probably damaging |
Het |
Or1j21 |
G |
T |
2: 36,684,007 (GRCm39) |
G253V |
probably damaging |
Het |
Phf21b |
T |
C |
15: 84,688,968 (GRCm39) |
D186G |
probably damaging |
Het |
Poli |
C |
T |
18: 70,661,829 (GRCm39) |
C57Y |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Psg23 |
T |
C |
7: 18,345,927 (GRCm39) |
Y256C |
probably benign |
Het |
Satb1 |
C |
A |
17: 52,089,726 (GRCm39) |
E374* |
probably null |
Het |
Scn4a |
C |
T |
11: 106,236,262 (GRCm39) |
E333K |
probably benign |
Het |
Sec14l2 |
C |
T |
11: 4,053,661 (GRCm39) |
|
probably benign |
Het |
Slain1 |
T |
C |
14: 103,923,261 (GRCm39) |
|
probably benign |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Syne2 |
T |
C |
12: 75,977,352 (GRCm39) |
S1266P |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,080,496 (GRCm39) |
E4810G |
probably damaging |
Het |
Tbck |
T |
C |
3: 132,448,841 (GRCm39) |
I618T |
probably damaging |
Het |
Tmem132d |
A |
T |
5: 127,861,657 (GRCm39) |
N821K |
probably benign |
Het |
Trim28 |
T |
A |
7: 12,762,628 (GRCm39) |
V381E |
probably damaging |
Het |
Ttc1 |
T |
C |
11: 43,636,115 (GRCm39) |
S43G |
probably benign |
Het |
Ube2u |
A |
G |
4: 100,338,852 (GRCm39) |
E39G |
possibly damaging |
Het |
Urb2 |
T |
C |
8: 124,757,665 (GRCm39) |
V1124A |
probably benign |
Het |
Usp13 |
A |
G |
3: 32,872,025 (GRCm39) |
|
probably benign |
Het |
Vmn1r216 |
A |
T |
13: 23,283,631 (GRCm39) |
S105C |
probably damaging |
Het |
Yipf2 |
T |
C |
9: 21,501,412 (GRCm39) |
T23A |
probably damaging |
Het |
Zfp521 |
G |
A |
18: 13,978,148 (GRCm39) |
T755M |
probably damaging |
Het |
Zfp619 |
T |
A |
7: 39,187,183 (GRCm39) |
M1071K |
probably benign |
Het |
Zfp942 |
A |
T |
17: 22,148,066 (GRCm39) |
C188S |
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 |
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 |
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 |
2013-07-24 |