Incidental Mutation 'R9672:Mfsd14b'
| ID |
728110 |
| 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 # |
R9672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65212844-65260813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65260320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 38
(W38R)
|
| 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: W38R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: W38R
| 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: W38R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: W38R
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,838,563 (GRCm39) |
K612N |
probably null |
Het |
| Atrnl1 |
G |
A |
19: 57,618,695 (GRCm39) |
A138T |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,794,666 (GRCm39) |
T164A |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,671,016 (GRCm39) |
S497P |
unknown |
Het |
| Cd209d |
C |
G |
8: 3,922,036 (GRCm39) |
G212A |
probably damaging |
Het |
| Cog8 |
A |
G |
8: 107,780,658 (GRCm39) |
I200T |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,919,847 (GRCm39) |
I90F |
possibly damaging |
Het |
| Cyp4a30b |
T |
A |
4: 115,316,576 (GRCm39) |
C401S |
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,422 (GRCm39) |
N209K |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dcaf11 |
T |
A |
14: 55,806,484 (GRCm39) |
Y468* |
probably null |
Het |
| Dennd4a |
A |
G |
9: 64,800,640 (GRCm39) |
D926G |
probably benign |
Het |
| Dph7 |
T |
C |
2: 24,855,606 (GRCm39) |
L135P |
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,178 (GRCm39) |
C564* |
probably null |
Het |
| Gabrb2 |
G |
A |
11: 42,312,207 (GRCm39) |
G11R |
probably benign |
Het |
| Gas6 |
A |
G |
8: 13,528,273 (GRCm39) |
S187P |
probably benign |
Het |
| Gemin5 |
C |
T |
11: 58,058,585 (GRCm39) |
V93I |
probably benign |
Het |
| Gldn |
A |
T |
9: 54,245,780 (GRCm39) |
I444F |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,897,750 (GRCm39) |
V234A |
probably damaging |
Het |
| Hand1 |
A |
G |
11: 57,722,516 (GRCm39) |
S33P |
possibly damaging |
Het |
| Ice2 |
G |
A |
9: 69,322,899 (GRCm39) |
A465T |
probably benign |
Het |
| Irf9 |
T |
C |
14: 55,842,129 (GRCm39) |
S2P |
probably benign |
Het |
| Kpna7 |
C |
T |
5: 144,944,776 (GRCm39) |
M21I |
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,023,213 (GRCm39) |
M189T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,779,291 (GRCm39) |
T2698A |
|
Het |
| Med10 |
A |
G |
13: 69,963,711 (GRCm39) |
K104R |
probably benign |
Het |
| Mrgpra2a |
A |
G |
7: 47,076,490 (GRCm39) |
F256S |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,687,332 (GRCm39) |
K146E |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,259,454 (GRCm39) |
Y251F |
probably damaging |
Het |
| Pabpc4 |
T |
C |
4: 123,184,133 (GRCm39) |
|
probably null |
Het |
| Pde8a |
A |
G |
7: 80,942,014 (GRCm39) |
N151S |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,100,824 (GRCm39) |
F176L |
possibly damaging |
Het |
| Plekhg5 |
C |
A |
4: 152,187,541 (GRCm39) |
D115E |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,007,889 (GRCm39) |
C532R |
unknown |
Het |
| Rasa2 |
A |
G |
9: 96,427,781 (GRCm39) |
W695R |
probably damaging |
Het |
| Rbpms2 |
A |
G |
9: 65,538,118 (GRCm39) |
N3S |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,799,842 (GRCm39) |
Y491C |
probably damaging |
Het |
| Scel |
T |
A |
14: 103,836,838 (GRCm39) |
N495K |
possibly damaging |
Het |
| Setd1a |
T |
C |
7: 127,385,237 (GRCm39) |
L648P |
possibly damaging |
Het |
| Snx29 |
A |
T |
16: 11,478,515 (GRCm39) |
R333S |
probably benign |
Het |
| Sppl2c |
A |
G |
11: 104,077,344 (GRCm39) |
Y48C |
probably damaging |
Het |
| Uba2 |
A |
T |
7: 33,856,749 (GRCm39) |
N230K |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,603,613 (GRCm39) |
Q589R |
possibly damaging |
Het |
| Vmn1r51 |
T |
A |
6: 90,106,549 (GRCm39) |
L155H |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,442 (GRCm39) |
N277D |
probably benign |
Het |
| Wdr97 |
T |
A |
15: 76,240,377 (GRCm39) |
V355E |
|
Het |
| Yy1 |
C |
A |
12: 108,759,584 (GRCm39) |
H82Q |
unknown |
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 |
|
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'- ATCCAAATTATATTACTGTCCCGCG -3'
(R):5'- ACCACTGAATAGTTGAGGGCC -3'
Sequencing Primer
(F):5'- GTCTGGTGGCTTTTGAATCAATAACC -3'
(R):5'- ACTGAATAGTTGAGGGCCCTGTTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation