Incidental Mutation 'R1692:Mfsd13a'
ID |
191901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd13a
|
Ensembl Gene |
ENSMUSG00000025227 |
Gene Name |
major facilitator superfamily domain containing 13a |
Synonyms |
4930538D17Rik, 4930449A08Rik, Tmem180 |
MMRRC Submission |
039725-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
R1692 (G1)
|
Quality Score |
186 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
46345315-46363693 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 46360515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 356
(H356N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040270]
[ENSMUST00000086969]
[ENSMUST00000128041]
[ENSMUST00000128455]
[ENSMUST00000142994]
|
AlphaFold |
Q6PDE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040270
|
SMART Domains |
Protein: ENSMUSP00000039844 Gene: ENSMUSG00000025228
Domain | Start | End | E-Value | Type |
ACTIN
|
9 |
376 |
4.18e-203 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086969
AA Change: H356N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000084189 Gene: ENSMUSG00000025227 AA Change: H356N
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: H356N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000119072 Gene: ENSMUSG00000025227 AA Change: H356N
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
|
SMART Domains |
Protein: ENSMUSP00000122944 Gene: ENSMUSG00000025227
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
8 |
318 |
7.8e-17 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
A |
T |
7: 133,489,673 (GRCm39) |
*582R |
probably null |
Het |
Agfg2 |
A |
G |
5: 137,662,633 (GRCm39) |
Y145H |
probably damaging |
Het |
Aldh1a1 |
C |
T |
19: 20,608,182 (GRCm39) |
P335S |
probably damaging |
Het |
Amotl1 |
T |
C |
9: 14,463,018 (GRCm39) |
R732G |
possibly damaging |
Het |
Ankef1 |
A |
T |
2: 136,392,346 (GRCm39) |
I512F |
probably benign |
Het |
Atg9a |
A |
T |
1: 75,166,999 (GRCm39) |
D17E |
probably benign |
Het |
Atpsckmt |
T |
C |
15: 31,602,297 (GRCm39) |
|
probably null |
Het |
Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
Ccnq |
T |
C |
11: 78,642,157 (GRCm39) |
E111G |
probably benign |
Het |
Cd79a |
T |
A |
7: 24,600,881 (GRCm39) |
M192K |
probably damaging |
Het |
Clcn1 |
T |
G |
6: 42,290,032 (GRCm39) |
F822L |
possibly damaging |
Het |
Dnajb12 |
A |
G |
10: 59,732,199 (GRCm39) |
Y346C |
probably damaging |
Het |
Erbb3 |
A |
G |
10: 128,407,594 (GRCm39) |
I918T |
probably benign |
Het |
Fbxw20 |
G |
T |
9: 109,050,777 (GRCm39) |
T377K |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,293,692 (GRCm39) |
I462V |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,266,553 (GRCm39) |
N251S |
probably benign |
Het |
Gpx1 |
A |
G |
9: 108,216,674 (GRCm39) |
T55A |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,340,856 (GRCm39) |
V4443A |
possibly damaging |
Het |
Kdm4d |
A |
T |
9: 14,375,807 (GRCm39) |
I17K |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,811,793 (GRCm39) |
S927G |
probably null |
Het |
Map7d1 |
G |
A |
4: 126,136,101 (GRCm39) |
P36S |
probably damaging |
Het |
Mtap |
C |
T |
4: 89,095,151 (GRCm39) |
R268C |
probably benign |
Het |
Myo1a |
C |
T |
10: 127,555,203 (GRCm39) |
|
probably null |
Het |
Myom3 |
T |
C |
4: 135,502,862 (GRCm39) |
L313P |
probably benign |
Het |
Nrxn2 |
T |
A |
19: 6,569,298 (GRCm39) |
V1391E |
probably damaging |
Het |
Otoa |
A |
C |
7: 120,690,774 (GRCm39) |
Q3P |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,626,717 (GRCm39) |
E576G |
probably damaging |
Het |
Pigw |
A |
C |
11: 84,767,892 (GRCm39) |
L479R |
probably damaging |
Het |
Pip5k1a |
A |
G |
3: 94,971,041 (GRCm39) |
I507T |
probably benign |
Het |
Ppp4r3b |
T |
A |
11: 29,138,123 (GRCm39) |
I157N |
probably benign |
Het |
Rrm2b |
G |
A |
15: 37,927,566 (GRCm39) |
R115* |
probably null |
Het |
Sall1 |
C |
T |
8: 89,755,028 (GRCm39) |
S1317N |
probably benign |
Het |
Serpinb6b |
T |
G |
13: 33,158,978 (GRCm39) |
F179V |
probably damaging |
Het |
Slc4a8 |
T |
A |
15: 100,698,454 (GRCm39) |
F648I |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,588,754 (GRCm39) |
T298A |
probably damaging |
Het |
Slit3 |
T |
C |
11: 35,550,171 (GRCm39) |
L830P |
probably damaging |
Het |
Smarcc1 |
T |
A |
9: 110,003,072 (GRCm39) |
N387K |
possibly damaging |
Het |
Tanc2 |
C |
T |
11: 105,748,326 (GRCm39) |
T486I |
probably benign |
Het |
Tdp1 |
C |
T |
12: 99,921,260 (GRCm39) |
P599S |
probably damaging |
Het |
Tmem33 |
A |
G |
5: 67,425,897 (GRCm39) |
D38G |
probably null |
Het |
Uvrag |
C |
T |
7: 98,653,870 (GRCm39) |
R247Q |
probably benign |
Het |
Vars1 |
T |
C |
17: 35,232,701 (GRCm39) |
V875A |
probably damaging |
Het |
Vcl |
A |
G |
14: 21,074,250 (GRCm39) |
E879G |
probably damaging |
Het |
Vmn1r231 |
C |
T |
17: 21,110,871 (GRCm39) |
V15I |
probably benign |
Het |
Zfp609 |
T |
C |
9: 65,702,593 (GRCm39) |
T20A |
probably damaging |
Het |
Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
Zfp959 |
T |
A |
17: 56,205,299 (GRCm39) |
H445Q |
probably damaging |
Het |
Zmiz2 |
T |
A |
11: 6,350,795 (GRCm39) |
V515E |
probably damaging |
Het |
Zmym5 |
G |
A |
14: 57,041,650 (GRCm39) |
T151M |
probably damaging |
Het |
Zxdc |
C |
T |
6: 90,355,933 (GRCm39) |
Q481* |
probably null |
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 |
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'- TGGCAATGAATGCAAACTGACCCC -3'
(R):5'- TGACCACCAGTGTCAGCAGCTTAC -3'
Sequencing Primer
(F):5'- AGTTGCCAACCCTGTTGAG -3'
(R):5'- TACAGGTACCCTCAGTGAAGAC -3'
|
Posted On |
2014-05-14 |