Incidental Mutation 'R1166:Mfsd14a'
| ID |
101000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd14a
|
| Ensembl Gene |
ENSMUSG00000089911 |
| Gene Name |
major facilitator superfamily domain containing 14A |
| Synonyms |
Hiat1 |
| MMRRC Submission |
039239-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R1166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116424813-116456264 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 116427543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029570]
[ENSMUST00000029571]
[ENSMUST00000197335]
[ENSMUST00000198311]
|
| AlphaFold |
P70187 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029570
|
| SMART Domains |
Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
40 |
388 |
3.4e-33 |
PFAM |
|
Pfam:MFS_2
|
182 |
407 |
3.6e-10 |
PFAM |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029571
|
| SMART Domains |
Protein: ENSMUSP00000029571
Gene: ENSMUSG00000027959
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:SAS-6_N
|
44 |
141 |
1.7e-29 |
PFAM |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
644 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196274
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197335
|
| SMART Domains |
Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2Y3W|C
|
7 |
136 |
3e-48 |
PDB |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
coiled coil region
|
380 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198311
|
| SMART Domains |
Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
PDB:2Y3W|C
|
15 |
171 |
9e-62 |
PDB |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
644 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198747
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.0%
- 20x: 86.3%
|
| Validation Efficiency |
96% (43/45) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, globozoospermia, and defects in spermiogenesis and acrosome formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,547,880 (GRCm39) |
K286R |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,302,581 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,152,706 (GRCm39) |
K733T |
probably damaging |
Het |
| Cenpn |
T |
G |
8: 117,652,946 (GRCm39) |
I39R |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,433,251 (GRCm39) |
Y112F |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,986,809 (GRCm39) |
C361F |
probably damaging |
Het |
| Ctf2 |
T |
C |
7: 127,318,685 (GRCm39) |
T105A |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,364,970 (GRCm39) |
T3584S |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,914,896 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,514,265 (GRCm39) |
|
probably benign |
Het |
| Fbxo17 |
T |
A |
7: 28,432,953 (GRCm39) |
V158E |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
| Gm5698 |
G |
T |
1: 31,016,366 (GRCm39) |
D228E |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,059,277 (GRCm39) |
D248E |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,647,281 (GRCm39) |
S342P |
probably benign |
Het |
| Krt36 |
G |
A |
11: 99,993,654 (GRCm39) |
R395C |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,209 (GRCm39) |
S1920P |
probably benign |
Het |
| Lsm14b |
T |
A |
2: 179,673,334 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,130,741 (GRCm39) |
E519G |
probably damaging |
Het |
| Mfsd4b5 |
T |
C |
10: 39,846,419 (GRCm39) |
Y387C |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,154,449 (GRCm39) |
N1063D |
possibly damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,524,217 (GRCm39) |
H421L |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,675 (GRCm39) |
V7A |
possibly damaging |
Het |
| Pacrg |
A |
T |
17: 10,622,268 (GRCm39) |
Y235* |
probably null |
Het |
| Pde4dip |
T |
A |
3: 97,620,512 (GRCm39) |
D1629V |
possibly damaging |
Het |
| Prl8a2 |
G |
T |
13: 27,537,935 (GRCm39) |
S204I |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,624,294 (GRCm39) |
M356K |
possibly damaging |
Het |
| Sh3tc2 |
A |
C |
18: 62,124,247 (GRCm39) |
S972R |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,946 (GRCm39) |
V557M |
probably damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,539,384 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,655,612 (GRCm39) |
I455V |
probably benign |
Het |
| Umodl1 |
T |
G |
17: 31,221,772 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,112,733 (GRCm39) |
T658A |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,720,618 (GRCm39) |
Y1119H |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,122,763 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Mfsd14a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03189:Mfsd14a
|
APN |
3 |
116,435,504 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03197:Mfsd14a
|
APN |
3 |
116,430,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1796:Mfsd14a
|
UTSW |
3 |
116,428,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Mfsd14a
|
UTSW |
3 |
116,426,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1871:Mfsd14a
|
UTSW |
3 |
116,434,969 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2155:Mfsd14a
|
UTSW |
3 |
116,441,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2176:Mfsd14a
|
UTSW |
3 |
116,426,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3078:Mfsd14a
|
UTSW |
3 |
116,441,566 (GRCm39) |
splice site |
probably benign |
|
|
R4451:Mfsd14a
|
UTSW |
3 |
116,456,127 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R4794:Mfsd14a
|
UTSW |
3 |
116,439,155 (GRCm39) |
intron |
probably benign |
|
|
R5197:Mfsd14a
|
UTSW |
3 |
116,442,150 (GRCm39) |
intron |
probably benign |
|
|
R5868:Mfsd14a
|
UTSW |
3 |
116,427,399 (GRCm39) |
missense |
probably benign |
|
|
R7098:Mfsd14a
|
UTSW |
3 |
116,435,361 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7603:Mfsd14a
|
UTSW |
3 |
116,427,532 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7836:Mfsd14a
|
UTSW |
3 |
116,442,200 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9229:Mfsd14a
|
UTSW |
3 |
116,439,118 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation