Incidental Mutation 'R0656:Mfsd13a'
| ID |
226160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd13a
|
| Ensembl Gene |
ENSMUSG00000025227 |
| Gene Name |
major facilitator superfamily domain containing 13a |
| Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
| MMRRC Submission |
038841-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R0656 (G1)
|
| Quality Score |
47 |
|
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: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.2%
|
| Validation Efficiency |
98% (92/94) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
A |
10: 70,704,630 (GRCm39) |
|
noncoding transcript |
Het |
| Alox5 |
A |
G |
6: 116,400,291 (GRCm39) |
|
probably benign |
Het |
| Anxa11 |
T |
A |
14: 25,874,421 (GRCm39) |
D203E |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,611,938 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bloc1s6 |
A |
G |
2: 122,584,543 (GRCm39) |
I39M |
probably benign |
Het |
| Celsr3 |
A |
C |
9: 108,711,854 (GRCm39) |
I1688L |
possibly damaging |
Het |
| Cgn |
T |
C |
3: 94,682,204 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
A |
T |
6: 125,079,930 (GRCm39) |
I453F |
probably damaging |
Het |
| Dbnl |
A |
G |
11: 5,747,321 (GRCm39) |
T247A |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,571,136 (GRCm39) |
E46G |
possibly damaging |
Het |
| Dsg1a |
T |
C |
18: 20,468,949 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
C |
T |
13: 63,019,099 (GRCm39) |
E150K |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,927,352 (GRCm38) |
L1854Q |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,727,362 (GRCm39) |
T714M |
probably benign |
Het |
| Gm12216 |
A |
T |
11: 53,704,162 (GRCm39) |
|
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Hmbs |
T |
A |
9: 44,248,657 (GRCm39) |
H256L |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,457,886 (GRCm39) |
|
probably null |
Het |
| Ints13 |
A |
G |
6: 146,453,959 (GRCm39) |
V240A |
probably benign |
Het |
| Iqca1l |
C |
T |
5: 24,754,760 (GRCm39) |
V337M |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,852,837 (GRCm39) |
D343G |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,090,531 (GRCm39) |
|
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,304,804 (GRCm39) |
V192A |
probably benign |
Het |
| Lpar3 |
T |
A |
3: 145,946,426 (GRCm39) |
C35S |
possibly damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,953 (GRCm39) |
I122V |
possibly damaging |
Het |
| Mgat4c |
T |
C |
10: 102,224,452 (GRCm39) |
M222T |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,570,488 (GRCm39) |
S516Y |
possibly damaging |
Het |
| Myo1e |
A |
T |
9: 70,274,956 (GRCm39) |
Q703L |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,115,570 (GRCm39) |
|
probably benign |
Het |
| Necab3 |
T |
G |
2: 154,388,223 (GRCm39) |
E239A |
probably null |
Het |
| Npr1 |
G |
T |
3: 90,368,676 (GRCm39) |
N461K |
probably benign |
Het |
| Or4k44 |
T |
C |
2: 111,367,972 (GRCm39) |
I221V |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,543 (GRCm39) |
Y172C |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,474,954 (GRCm39) |
D30G |
probably benign |
Het |
| Phf12 |
A |
C |
11: 77,920,158 (GRCm39) |
Q898P |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,309,821 (GRCm39) |
E132G |
possibly damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,270,075 (GRCm39) |
V29A |
probably benign |
Het |
| Rundc3b |
T |
A |
5: 8,619,529 (GRCm39) |
I143F |
probably damaging |
Het |
| Ryr3 |
T |
G |
2: 112,478,651 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,626,901 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
A |
G |
5: 24,636,257 (GRCm39) |
D201G |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,150,871 (GRCm39) |
|
probably null |
Het |
| Timm21 |
T |
C |
18: 84,967,326 (GRCm39) |
H150R |
probably damaging |
Het |
| Tmem79 |
T |
C |
3: 88,240,241 (GRCm39) |
T236A |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,422,967 (GRCm39) |
V3095F |
probably damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,573 (GRCm39) |
Q208L |
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 |
|
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 |
2014-09-17 |
Incidental Mutation