Incidental Mutation 'R9597:Mfsd14b'
ID |
723349 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd14b
|
Ensembl Gene |
ENSMUSG00000038212 |
Gene Name |
major facilitator superfamily domain containing 14B |
Synonyms |
5730414C17Rik, Hiatl1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R9597 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
65212844-65260813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 65221414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 293
(V293L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054730]
[ENSMUST00000155487]
|
AlphaFold |
Q8CIA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054730
AA Change: V293L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000062566 Gene: ENSMUSG00000038212 AA Change: V293L
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
50 |
396 |
4.5e-33 |
PFAM |
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155487
AA Change: V293L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118180 Gene: ENSMUSG00000038212 AA Change: V293L
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
50 |
396 |
4.6e-33 |
PFAM |
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,578,813 (GRCm39) |
E952G |
possibly damaging |
Het |
Abhd12 |
T |
C |
2: 150,688,198 (GRCm39) |
I170V |
probably benign |
Het |
Ankmy1 |
A |
G |
1: 92,804,773 (GRCm39) |
V840A |
|
Het |
Arhgap18 |
T |
A |
10: 26,788,655 (GRCm39) |
V589D |
probably damaging |
Het |
Armc7 |
A |
G |
11: 115,379,712 (GRCm39) |
T137A |
probably benign |
Het |
Bcl9 |
A |
T |
3: 97,117,323 (GRCm39) |
I457K |
probably benign |
Het |
Ccdc148 |
A |
T |
2: 58,893,397 (GRCm39) |
Y78N |
probably benign |
Het |
Ccdc24 |
A |
G |
4: 117,729,348 (GRCm39) |
V43A |
probably damaging |
Het |
Cep68 |
G |
A |
11: 20,188,506 (GRCm39) |
T633I |
probably benign |
Het |
Cfap157 |
T |
C |
2: 32,669,753 (GRCm39) |
I277V |
probably benign |
Het |
Clec4a2 |
C |
A |
6: 123,116,291 (GRCm39) |
A152E |
probably benign |
Het |
Crocc2 |
G |
T |
1: 93,118,217 (GRCm39) |
C380F |
probably benign |
Het |
Cyp2ab1 |
A |
T |
16: 20,135,340 (GRCm39) |
M54K |
probably benign |
Het |
Fbn1 |
C |
A |
2: 125,187,906 (GRCm39) |
R1541L |
probably benign |
Het |
Fem1c |
G |
T |
18: 46,638,362 (GRCm39) |
L547I |
probably damaging |
Het |
Firrm |
A |
T |
1: 163,804,340 (GRCm39) |
L331Q |
probably null |
Het |
Fras1 |
A |
G |
5: 96,888,551 (GRCm39) |
D2699G |
probably damaging |
Het |
Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
Kcnn2 |
T |
C |
18: 45,816,149 (GRCm39) |
V460A |
probably benign |
Het |
Krt81 |
T |
C |
15: 101,358,919 (GRCm39) |
I278V |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,260,703 (GRCm39) |
E4509D |
probably benign |
Het |
Myh2 |
G |
A |
11: 67,064,302 (GRCm39) |
D86N |
possibly damaging |
Het |
Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
Neto1 |
T |
C |
18: 86,422,821 (GRCm39) |
S93P |
possibly damaging |
Het |
Obscn |
G |
T |
11: 59,027,009 (GRCm39) |
R65S |
probably benign |
Het |
Or52e8 |
A |
G |
7: 104,624,413 (GRCm39) |
F264L |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,877,197 (GRCm39) |
T251A |
possibly damaging |
Het |
Pramel15 |
A |
T |
4: 144,103,526 (GRCm39) |
V200E |
probably damaging |
Het |
Prdm14 |
T |
C |
1: 13,192,657 (GRCm39) |
K361E |
possibly damaging |
Het |
Rgs2 |
A |
G |
1: 143,877,826 (GRCm39) |
F125L |
probably damaging |
Het |
Scd2 |
C |
A |
19: 44,288,246 (GRCm39) |
Q213K |
probably damaging |
Het |
Slc23a2 |
C |
A |
2: 131,904,098 (GRCm39) |
R454L |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,812,270 (GRCm39) |
D31G |
unknown |
Het |
Spata7 |
T |
A |
12: 98,600,559 (GRCm39) |
N57K |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,599,897 (GRCm39) |
M1983V |
unknown |
Het |
Srcap |
G |
T |
7: 127,121,219 (GRCm39) |
R184L |
possibly damaging |
Het |
Tafa4 |
A |
G |
6: 96,991,429 (GRCm39) |
W7R |
probably benign |
Het |
Tbpl2 |
A |
G |
2: 23,977,296 (GRCm39) |
S241P |
probably damaging |
Het |
Tcaim |
A |
G |
9: 122,637,830 (GRCm39) |
|
probably null |
Het |
Tep1 |
G |
T |
14: 51,100,465 (GRCm39) |
A351E |
probably damaging |
Het |
Tiparp |
A |
G |
3: 65,438,701 (GRCm39) |
T6A |
probably benign |
Het |
Tmem62 |
T |
C |
2: 120,829,567 (GRCm39) |
F437L |
probably benign |
Het |
Tpp1 |
A |
T |
7: 105,396,714 (GRCm39) |
H434Q |
probably benign |
Het |
Vmn2r17 |
A |
G |
5: 109,575,669 (GRCm39) |
Y180C |
probably damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,904,719 (GRCm39) |
Y373* |
probably null |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
|
Other mutations in Mfsd14b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00697:Mfsd14b
|
APN |
13 |
65,214,515 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01935:Mfsd14b
|
APN |
13 |
65,215,739 (GRCm39) |
missense |
probably benign |
|
IGL01957:Mfsd14b
|
APN |
13 |
65,234,907 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0555:Mfsd14b
|
UTSW |
13 |
65,226,259 (GRCm39) |
missense |
probably benign |
0.34 |
R0601:Mfsd14b
|
UTSW |
13 |
65,234,964 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0988:Mfsd14b
|
UTSW |
13 |
65,260,307 (GRCm39) |
splice site |
probably benign |
|
R1136:Mfsd14b
|
UTSW |
13 |
65,243,506 (GRCm39) |
missense |
probably benign |
0.22 |
R1494:Mfsd14b
|
UTSW |
13 |
65,243,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R2087:Mfsd14b
|
UTSW |
13 |
65,215,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Mfsd14b
|
UTSW |
13 |
65,214,422 (GRCm39) |
utr 3 prime |
probably benign |
|
R5103:Mfsd14b
|
UTSW |
13 |
65,234,907 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5568:Mfsd14b
|
UTSW |
13 |
65,219,936 (GRCm39) |
splice site |
probably null |
|
R5603:Mfsd14b
|
UTSW |
13 |
65,221,420 (GRCm39) |
missense |
probably benign |
0.00 |
R6181:Mfsd14b
|
UTSW |
13 |
65,260,398 (GRCm39) |
missense |
probably benign |
0.00 |
R6330:Mfsd14b
|
UTSW |
13 |
65,243,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Mfsd14b
|
UTSW |
13 |
65,214,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R7460:Mfsd14b
|
UTSW |
13 |
65,219,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R7605:Mfsd14b
|
UTSW |
13 |
65,214,591 (GRCm39) |
missense |
probably benign |
|
R9034:Mfsd14b
|
UTSW |
13 |
65,223,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R9268:Mfsd14b
|
UTSW |
13 |
65,222,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R9545:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9598:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9598:Mfsd14b
|
UTSW |
13 |
65,214,522 (GRCm39) |
missense |
probably benign |
0.00 |
R9633:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9672:Mfsd14b
|
UTSW |
13 |
65,260,320 (GRCm39) |
missense |
probably benign |
0.00 |
R9696:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9698:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9702:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9755:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9756:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9783:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9801:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9802:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9803:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
X0017:Mfsd14b
|
UTSW |
13 |
65,219,867 (GRCm39) |
missense |
probably benign |
0.08 |
X0027:Mfsd14b
|
UTSW |
13 |
65,219,825 (GRCm39) |
missense |
probably benign |
0.16 |
X0063:Mfsd14b
|
UTSW |
13 |
65,226,299 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGAGGCAACAGTTTGGAG -3'
(R):5'- ATGCTTTCATTGTCTCCAAACTGAC -3'
Sequencing Primer
(F):5'- GGAACTCTTAGAAACTTGTACCCTTG -3'
(R):5'- TCATTGTCTCCAAACTGACATAGAC -3'
|
Posted On |
2022-08-09 |