Incidental Mutation 'R9801:Mfsd14b'
| ID |
735227 |
| 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 # |
R9801 (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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,945,540 (GRCm39) |
N330K |
probably benign |
Het |
| 4933402J07Rik |
A |
G |
8: 88,290,717 (GRCm39) |
E25G |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,881,091 (GRCm39) |
T297A |
possibly damaging |
Het |
| Anks1 |
A |
G |
17: 28,227,033 (GRCm39) |
E562G |
possibly damaging |
Het |
| Atg12 |
T |
C |
18: 46,874,460 (GRCm39) |
T52A |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,100,418 (GRCm39) |
T260S |
probably benign |
Het |
| Btbd3 |
C |
T |
2: 138,122,368 (GRCm39) |
R173* |
probably null |
Het |
| Cbr1 |
A |
C |
16: 93,406,687 (GRCm39) |
R134S |
probably damaging |
Het |
| Cdcp2 |
A |
T |
4: 106,964,262 (GRCm39) |
I371F |
possibly damaging |
Het |
| Cntrob |
T |
C |
11: 69,212,233 (GRCm39) |
E124G |
possibly damaging |
Het |
| Cstf3 |
T |
C |
2: 104,421,024 (GRCm39) |
S2P |
possibly damaging |
Het |
| Ctbs |
T |
C |
3: 146,169,679 (GRCm39) |
V312A |
probably damaging |
Het |
| Cylc2 |
T |
A |
4: 51,228,466 (GRCm39) |
V179E |
probably null |
Het |
| Dip2c |
T |
C |
13: 9,626,936 (GRCm39) |
L658P |
probably damaging |
Het |
| Dus4l |
A |
G |
12: 31,698,827 (GRCm39) |
I59T |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,782 (GRCm39) |
N133K |
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,610,310 (GRCm39) |
C93S |
probably damaging |
Het |
| Galr1 |
T |
C |
18: 82,423,912 (GRCm39) |
S122G |
possibly damaging |
Het |
| Glra3 |
G |
A |
8: 56,563,563 (GRCm39) |
V353M |
probably damaging |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,511 (GRCm39) |
N222K |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,205,477 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
A |
13: 13,809,290 (GRCm39) |
V320E |
probably damaging |
Het |
| Me3 |
A |
C |
7: 89,435,657 (GRCm39) |
D164A |
probably damaging |
Het |
| Nbr1 |
C |
A |
11: 101,447,025 (GRCm39) |
Q4K |
probably damaging |
Het |
| Nr1i3 |
T |
C |
1: 171,045,252 (GRCm39) |
L300P |
probably damaging |
Het |
| Pemt |
T |
A |
11: 59,874,287 (GRCm39) |
N101I |
probably damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,908,964 (GRCm39) |
E347* |
probably null |
Het |
| Plxna4 |
C |
T |
6: 32,140,526 (GRCm39) |
|
probably null |
Het |
| Polq |
C |
T |
16: 36,913,190 (GRCm39) |
R2420C |
probably damaging |
Het |
| Psg22 |
T |
C |
7: 18,456,899 (GRCm39) |
Y261H |
probably benign |
Het |
| Pum1 |
C |
T |
4: 130,481,328 (GRCm39) |
S722L |
probably benign |
Het |
| Rbl2 |
T |
C |
8: 91,822,229 (GRCm39) |
Y464H |
probably benign |
Het |
| Rnf145 |
T |
A |
11: 44,448,112 (GRCm39) |
I323N |
probably damaging |
Het |
| Rxylt1 |
T |
A |
10: 121,926,608 (GRCm39) |
N168I |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,580 (GRCm39) |
V40E |
probably damaging |
Het |
| Slmap |
G |
A |
14: 26,143,595 (GRCm39) |
A764V |
probably damaging |
Het |
| Smarca4 |
G |
T |
9: 21,586,397 (GRCm39) |
L1139F |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,049,062 (GRCm39) |
E113G |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,932,235 (GRCm39) |
S196P |
probably benign |
Het |
| Tcp10b |
A |
G |
17: 13,281,867 (GRCm39) |
E79G |
possibly damaging |
Het |
| Tet3 |
T |
A |
6: 83,346,436 (GRCm39) |
N1334Y |
possibly damaging |
Het |
| Tll2 |
A |
G |
19: 41,194,993 (GRCm39) |
V31A |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,045,263 (GRCm39) |
I475T |
probably benign |
Het |
| Uba3 |
T |
A |
6: 97,162,635 (GRCm39) |
D387V |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp260 |
T |
C |
7: 29,804,937 (GRCm39) |
I279T |
possibly 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 |
|
R9597: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 |
|
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'- TCATTGTCTCCAAACTGACATAGAC -3'
Sequencing Primer
(F):5'- GGAACTCTTAGAAACTTGTACCCTTG -3'
(R):5'- CACAATTCATGCCTACTAATTACAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation