Incidental Mutation 'R6426:Mfsd4b1'
ID |
518329 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd4b1
|
Ensembl Gene |
ENSMUSG00000038522 |
Gene Name |
major facilitator superfamily domain containing 4B1 |
Synonyms |
AI317395 |
MMRRC Submission |
044565-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R6426 (G1)
|
Quality Score |
174.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
39877571-39901264 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39882073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 71
(T71A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163705]
|
AlphaFold |
Q8VCV9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163705
AA Change: T71A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128324 Gene: ENSMUSG00000038522 AA Change: T71A
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
1 |
369 |
1.9e-15 |
PFAM |
transmembrane domain
|
382 |
404 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176975
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214611
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
Adcyap1r1 |
T |
G |
6: 55,471,172 (GRCm39) |
L365R |
probably damaging |
Het |
Adgre4 |
A |
G |
17: 56,109,196 (GRCm39) |
N401S |
probably benign |
Het |
Adgrl3 |
A |
T |
5: 81,874,717 (GRCm39) |
S1073C |
probably damaging |
Het |
Bicral |
G |
A |
17: 47,141,005 (GRCm39) |
P26S |
probably benign |
Het |
Cst3 |
G |
T |
2: 148,713,917 (GRCm39) |
T129K |
probably benign |
Het |
Cyp26a1 |
T |
C |
19: 37,687,753 (GRCm39) |
M287T |
probably benign |
Het |
Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 49,997,645 (GRCm39) |
V611A |
probably damaging |
Het |
Fam149a |
C |
A |
8: 45,834,611 (GRCm39) |
A63S |
probably benign |
Het |
Fhip2a |
T |
G |
19: 57,371,610 (GRCm39) |
L574R |
probably damaging |
Het |
Foxred2 |
C |
G |
15: 77,837,508 (GRCm39) |
A243P |
probably damaging |
Het |
Gm3604 |
A |
T |
13: 62,517,436 (GRCm39) |
D307E |
probably damaging |
Het |
Lca5 |
G |
A |
9: 83,277,707 (GRCm39) |
Q546* |
probably null |
Het |
Onecut1 |
A |
G |
9: 74,769,631 (GRCm39) |
H18R |
probably damaging |
Het |
Or5a1 |
A |
G |
19: 12,097,212 (GRCm39) |
V288A |
probably benign |
Het |
Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
Pcsk5 |
G |
T |
19: 17,595,093 (GRCm39) |
Q414K |
probably damaging |
Het |
Ppp4r2 |
T |
C |
6: 100,829,558 (GRCm39) |
Y77H |
probably damaging |
Het |
Prr19 |
A |
G |
7: 25,003,262 (GRCm39) |
D292G |
probably damaging |
Het |
Pum1 |
G |
A |
4: 130,481,283 (GRCm39) |
R464H |
probably damaging |
Het |
Rhoq |
G |
T |
17: 87,302,442 (GRCm39) |
R126L |
probably damaging |
Het |
Sdhb |
A |
G |
4: 140,701,029 (GRCm39) |
K162E |
probably benign |
Het |
Sema3d |
G |
A |
5: 12,613,231 (GRCm39) |
G436E |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,038,814 (GRCm39) |
M823K |
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Syne2 |
G |
T |
12: 75,969,857 (GRCm39) |
E977D |
probably null |
Het |
Tns2 |
A |
T |
15: 102,015,472 (GRCm39) |
M125L |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,542,313 (GRCm39) |
K31812* |
probably null |
Het |
Ube4b |
G |
A |
4: 149,510,453 (GRCm39) |
|
probably benign |
Het |
Vmn2r91 |
G |
A |
17: 18,355,865 (GRCm39) |
|
probably null |
Het |
Zbtb49 |
G |
A |
5: 38,360,431 (GRCm39) |
|
probably null |
Het |
Zswim8 |
T |
A |
14: 20,768,594 (GRCm39) |
S1035T |
probably damaging |
Het |
|
Other mutations in Mfsd4b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01650:Mfsd4b1
|
APN |
10 |
39,879,115 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03356:Mfsd4b1
|
APN |
10 |
39,878,827 (GRCm39) |
missense |
probably damaging |
0.97 |
R1467:Mfsd4b1
|
UTSW |
10 |
39,878,631 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1467:Mfsd4b1
|
UTSW |
10 |
39,878,631 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1770:Mfsd4b1
|
UTSW |
10 |
39,879,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1930:Mfsd4b1
|
UTSW |
10 |
39,882,070 (GRCm39) |
missense |
probably benign |
0.01 |
R2122:Mfsd4b1
|
UTSW |
10 |
39,878,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2290:Mfsd4b1
|
UTSW |
10 |
39,879,327 (GRCm39) |
missense |
probably damaging |
0.99 |
R3508:Mfsd4b1
|
UTSW |
10 |
39,878,715 (GRCm39) |
missense |
probably benign |
0.15 |
R4469:Mfsd4b1
|
UTSW |
10 |
39,888,091 (GRCm39) |
intron |
probably benign |
|
R4594:Mfsd4b1
|
UTSW |
10 |
39,883,313 (GRCm39) |
missense |
probably benign |
0.00 |
R5300:Mfsd4b1
|
UTSW |
10 |
39,879,027 (GRCm39) |
missense |
probably benign |
|
R6250:Mfsd4b1
|
UTSW |
10 |
39,879,106 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7061:Mfsd4b1
|
UTSW |
10 |
39,879,382 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7595:Mfsd4b1
|
UTSW |
10 |
39,879,221 (GRCm39) |
nonsense |
probably null |
|
R7734:Mfsd4b1
|
UTSW |
10 |
39,883,374 (GRCm39) |
missense |
probably damaging |
0.98 |
R7737:Mfsd4b1
|
UTSW |
10 |
39,879,274 (GRCm39) |
missense |
probably damaging |
0.97 |
R7852:Mfsd4b1
|
UTSW |
10 |
39,879,411 (GRCm39) |
missense |
probably benign |
0.23 |
R7893:Mfsd4b1
|
UTSW |
10 |
39,883,313 (GRCm39) |
missense |
probably benign |
0.00 |
R9278:Mfsd4b1
|
UTSW |
10 |
39,883,330 (GRCm39) |
missense |
probably damaging |
0.99 |
R9441:Mfsd4b1
|
UTSW |
10 |
39,878,680 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9786:Mfsd4b1
|
UTSW |
10 |
39,878,865 (GRCm39) |
missense |
probably damaging |
0.98 |
X0063:Mfsd4b1
|
UTSW |
10 |
39,883,303 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGCAAGGACAGTCGACACC -3'
(R):5'- CTGCAACTCTGTGTTAACTCAG -3'
Sequencing Primer
(F):5'- AGTCGACACCACCCGCTG -3'
(R):5'- TTCCACTCCTGAGTTACG -3'
|
Posted On |
2018-05-24 |