Incidental Mutation 'R1389:Mfsd3'
| ID |
162560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd3
|
| Ensembl Gene |
ENSMUSG00000019080 |
| Gene Name |
major facilitator superfamily domain containing 3 |
| Synonyms |
2310010G13Rik |
| MMRRC Submission |
039451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1389 (G1)
|
| Quality Score |
173 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76585742-76588439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76586889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 243
(H243R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000023203]
[ENSMUST00000036852]
[ENSMUST00000229140]
[ENSMUST00000229679]
[ENSMUST00000230724]
[ENSMUST00000231028]
[ENSMUST00000230544]
[ENSMUST00000229734]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019224
AA Change: H243R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000019224
Gene: ENSMUSG00000019080
AA Change: H243R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
8 |
373 |
3e-16 |
PFAM |
|
transmembrane domain
|
388 |
407 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023203
|
| SMART Domains |
Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
83 |
484 |
7.8e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036852
|
| SMART Domains |
Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Drc1-Sld2
|
4 |
132 |
2.8e-14 |
PFAM |
|
low complexity region
|
169 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
394 |
410 |
5.67e-5 |
SMART |
|
DEXDc
|
494 |
701 |
5.86e-28 |
SMART |
|
HELICc
|
736 |
831 |
1.48e-24 |
SMART |
|
Blast:DEXDc
|
902 |
1117 |
3e-46 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229140
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230283
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229734
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,476,460 (GRCm39) |
T914A |
possibly damaging |
Het |
| Acsl3 |
A |
C |
1: 78,665,999 (GRCm39) |
I142L |
probably benign |
Het |
| Adgra2 |
C |
T |
8: 27,601,116 (GRCm39) |
P252L |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,186,303 (GRCm39) |
E1239G |
probably benign |
Het |
| Arhgef17 |
TGGAGGAGGAGGAGGAGG |
TGGAGGAGGAGGAGG |
7: 100,580,244 (GRCm39) |
|
probably benign |
Het |
| Calml4 |
A |
T |
9: 62,778,548 (GRCm39) |
D12V |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccar2 |
C |
A |
14: 70,377,558 (GRCm39) |
V699L |
possibly damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,226 (GRCm39) |
M88V |
unknown |
Het |
| Ceacam15 |
T |
C |
7: 16,405,988 (GRCm39) |
R188G |
probably damaging |
Het |
| Dcaf8 |
G |
A |
1: 172,001,619 (GRCm39) |
R272H |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,404,778 (GRCm39) |
V2588A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,250,313 (GRCm39) |
R1749H |
probably damaging |
Het |
| Exog |
A |
G |
9: 119,291,572 (GRCm39) |
Q283R |
probably benign |
Het |
| Fmnl1 |
A |
T |
11: 103,077,535 (GRCm39) |
|
probably null |
Het |
| Gramd1c |
T |
C |
16: 43,811,085 (GRCm39) |
D213G |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,409,504 (GRCm39) |
|
probably null |
Het |
| Itgae |
A |
G |
11: 73,016,188 (GRCm39) |
Y799C |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,809,173 (GRCm39) |
I903V |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 192,188,071 (GRCm39) |
E844G |
probably benign |
Het |
| Khdc1a |
A |
T |
1: 21,420,251 (GRCm39) |
D3V |
probably damaging |
Het |
| Ly6g |
T |
C |
15: 75,028,615 (GRCm39) |
F25S |
probably benign |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,456 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,591,076 (GRCm39) |
Y1016N |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,078 (GRCm39) |
V219E |
probably damaging |
Het |
| Nars2 |
G |
A |
7: 96,652,036 (GRCm39) |
S209N |
probably benign |
Het |
| Nckap5 |
T |
C |
1: 125,954,447 (GRCm39) |
T702A |
probably damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,369 (GRCm39) |
N65S |
possibly damaging |
Het |
| Paf1 |
A |
G |
7: 28,098,257 (GRCm39) |
|
probably benign |
Het |
| Prl3d1 |
A |
T |
13: 27,282,693 (GRCm39) |
R145* |
probably null |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rnf13 |
T |
A |
3: 57,686,917 (GRCm39) |
N103K |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,973,734 (GRCm39) |
S170G |
probably benign |
Het |
| Slc46a2 |
A |
G |
4: 59,914,620 (GRCm39) |
L101P |
probably damaging |
Het |
| Tmem123 |
C |
T |
9: 7,791,107 (GRCm39) |
T136M |
probably damaging |
Het |
| Tpo |
T |
A |
12: 30,153,109 (GRCm39) |
H415L |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,100,950 (GRCm39) |
I255V |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,561,541 (GRCm39) |
V310E |
probably damaging |
Het |
| Zfp3 |
T |
A |
11: 70,663,462 (GRCm39) |
C474S |
probably damaging |
Het |
| Zfp707 |
T |
A |
15: 75,846,465 (GRCm39) |
C99S |
probably damaging |
Het |
| Zranb1 |
C |
T |
7: 132,573,062 (GRCm39) |
P410S |
probably damaging |
Het |
| Zswim8 |
G |
T |
14: 20,760,816 (GRCm39) |
R30L |
probably damaging |
Het |
|
| Other mutations in Mfsd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02965:Mfsd3
|
APN |
15 |
76,587,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03159:Mfsd3
|
APN |
15 |
76,587,101 (GRCm39) |
missense |
probably benign |
|
|
R1232:Mfsd3
|
UTSW |
15 |
76,587,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Mfsd3
|
UTSW |
15 |
76,586,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4159:Mfsd3
|
UTSW |
15 |
76,585,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Mfsd3
|
UTSW |
15 |
76,586,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Mfsd3
|
UTSW |
15 |
76,586,371 (GRCm39) |
nonsense |
probably null |
|
|
R6902:Mfsd3
|
UTSW |
15 |
76,587,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6946:Mfsd3
|
UTSW |
15 |
76,587,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Mfsd3
|
UTSW |
15 |
76,587,183 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCCAAACTCTATGTTGGTCCC -3'
(R):5'- TGCAGCACTGTCTTCAACAGCTTC -3'
Sequencing Primer
(F):5'- GACTGCCCTATGCTGGAATAC -3'
(R):5'- TGTCTTCAACAGCTTCAGTGG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation