Incidental Mutation 'R5603:Mfsd14b'
| ID |
439149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd14b
|
| Ensembl Gene |
ENSMUSG00000038212 |
| Gene Name |
major facilitator superfamily domain containing 14B |
| Synonyms |
5730414C17Rik, Hiatl1 |
| MMRRC Submission |
043155-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R5603 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65212844-65260813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65221420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 291
(K291E)
|
| 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: K291E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: K291E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
50 |
396 |
4.5e-33 |
PFAM |
|
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148779
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155487
AA Change: K291E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: K291E
| 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: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
A |
G |
5: 144,202,787 (GRCm39) |
S509P |
probably damaging |
Het |
| Bud31 |
T |
C |
5: 145,081,769 (GRCm39) |
I52T |
possibly damaging |
Het |
| Cacna1g |
C |
T |
11: 94,330,578 (GRCm39) |
S979N |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,221,246 (GRCm39) |
W253R |
probably damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,330 (GRCm39) |
Y118H |
probably damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,721,497 (GRCm39) |
T71A |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,689,683 (GRCm39) |
T19A |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,603 (GRCm39) |
V850D |
probably damaging |
Het |
| Cpsf2 |
C |
A |
12: 101,964,890 (GRCm39) |
Q513K |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,420,078 (GRCm39) |
V3792G |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Exoc6b |
T |
C |
6: 84,812,126 (GRCm39) |
D625G |
possibly damaging |
Het |
| Gad1 |
C |
A |
2: 70,420,173 (GRCm39) |
F352L |
probably damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,900,395 (GRCm39) |
E162G |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,747,786 (GRCm39) |
F333I |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,924,358 (GRCm39) |
F1952L |
probably benign |
Het |
| Ighv1-42 |
C |
T |
12: 114,901,132 (GRCm39) |
|
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,450,706 (GRCm39) |
T578A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,564,331 (GRCm39) |
L379P |
probably damaging |
Het |
| Mtmr6 |
A |
T |
14: 60,522,450 (GRCm39) |
K183* |
probably null |
Het |
| Mylk |
A |
G |
16: 34,776,862 (GRCm39) |
N1345S |
probably benign |
Het |
| Nab2 |
A |
T |
10: 127,500,990 (GRCm39) |
M1K |
probably null |
Het |
| Ngly1 |
C |
A |
14: 16,260,762 (GRCm38) |
Q149K |
probably benign |
Het |
| Npy6r |
T |
A |
18: 44,409,652 (GRCm39) |
S358T |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,907,228 (GRCm39) |
T156A |
probably benign |
Het |
| Pik3cd |
A |
T |
4: 149,743,312 (GRCm39) |
C263S |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,344,066 (GRCm39) |
C455* |
probably null |
Het |
| Ptk2b |
A |
T |
14: 66,409,514 (GRCm39) |
Y507* |
probably null |
Het |
| Rbm25 |
C |
T |
12: 83,710,990 (GRCm39) |
R368* |
probably null |
Het |
| Rnf207 |
T |
C |
4: 152,396,851 (GRCm39) |
Y396C |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,506,961 (GRCm39) |
V328E |
possibly damaging |
Het |
| Slc3a2 |
A |
G |
19: 8,691,092 (GRCm39) |
V7A |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,828,575 (GRCm39) |
V265I |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,239,705 (GRCm39) |
V108D |
possibly damaging |
Het |
| Ugt1a2 |
T |
C |
1: 88,129,148 (GRCm39) |
Y264H |
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 |
|
|
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 |
|
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'- CTGAGGCAACAGTTTGGAGG -3'
(R):5'- ATGCTTTCATTGTCTCCAAACTGAC -3'
Sequencing Primer
(F):5'- GGAACTCTTAGAAACTTGTACCCTTG -3'
(R):5'- TCATTGTCTCCAAACTGACATAGAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation