Incidental Mutation 'IGL01999:Mfsd11'
| ID |
182140 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfsd11
|
| Ensembl Gene |
ENSMUSG00000020818 |
| Gene Name |
major facilitator superfamily domain containing 11 |
| Synonyms |
2600014M03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL01999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116743266-116766461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116752411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 135
(F135I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021173]
[ENSMUST00000106363]
[ENSMUST00000106365]
[ENSMUST00000136012]
[ENSMUST00000139954]
[ENSMUST00000153084]
|
| AlphaFold |
Q8BJ51 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021173
AA Change: F187I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: F187I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
166 |
6.5e-56 |
PFAM |
|
transmembrane domain
|
173 |
190 |
N/A |
INTRINSIC |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
|
transmembrane domain
|
410 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106363
|
| SMART Domains |
Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
92 |
6e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106365
|
| SMART Domains |
Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
91 |
7.9e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136012
|
| SMART Domains |
Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
91 |
7.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139954
|
| SMART Domains |
Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
91 |
7.9e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147404
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153084
AA Change: F135I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: F135I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
115 |
7.4e-33 |
PFAM |
|
transmembrane domain
|
119 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
|
transmembrane domain
|
253 |
275 |
N/A |
INTRINSIC |
|
transmembrane domain
|
358 |
380 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cabs1 |
C |
T |
5: 88,127,787 (GRCm39) |
T146I |
possibly damaging |
Het |
| Cfap161 |
C |
T |
7: 83,440,899 (GRCm39) |
V118M |
probably damaging |
Het |
| Cfap95 |
C |
A |
19: 23,569,529 (GRCm39) |
L130F |
possibly damaging |
Het |
| Chrna7 |
T |
C |
7: 62,753,539 (GRCm39) |
M327V |
probably damaging |
Het |
| Ddx18 |
A |
G |
1: 121,489,457 (GRCm39) |
I228T |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,370,422 (GRCm39) |
S4616T |
possibly damaging |
Het |
| Dsp |
T |
A |
13: 38,365,162 (GRCm39) |
M515K |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,191,926 (GRCm39) |
|
probably null |
Het |
| Gria2 |
G |
A |
3: 80,639,398 (GRCm39) |
R205W |
probably damaging |
Het |
| Hacd2 |
T |
C |
16: 34,869,083 (GRCm39) |
|
probably benign |
Het |
| Helz |
G |
T |
11: 107,493,754 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,202,155 (GRCm39) |
N352S |
probably benign |
Het |
| Mtmr10 |
A |
G |
7: 63,987,460 (GRCm39) |
N667D |
probably benign |
Het |
| Mtmr9 |
A |
C |
14: 63,779,903 (GRCm39) |
F62C |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,265,308 (GRCm39) |
|
probably benign |
Het |
| Nfasc |
A |
G |
1: 132,532,985 (GRCm39) |
|
probably benign |
Het |
| Npnt |
C |
T |
3: 132,614,160 (GRCm39) |
R150Q |
probably damaging |
Het |
| Or5b108 |
G |
A |
19: 13,168,924 (GRCm39) |
A298T |
probably damaging |
Het |
| Or5p55 |
C |
T |
7: 107,566,675 (GRCm39) |
R24C |
probably benign |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Pcdhb2 |
C |
T |
18: 37,429,890 (GRCm39) |
A621V |
probably damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,786,291 (GRCm39) |
W1921L |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 135,188,238 (GRCm39) |
R777Q |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,660,728 (GRCm39) |
P297L |
probably damaging |
Het |
| Ppp2r2b |
T |
C |
18: 42,778,788 (GRCm39) |
|
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,154,155 (GRCm39) |
D372G |
probably benign |
Het |
| Rtn4r |
A |
G |
16: 17,969,321 (GRCm39) |
R250G |
possibly damaging |
Het |
| Sec61a2 |
A |
G |
2: 5,896,174 (GRCm39) |
|
probably benign |
Het |
| Sema3g |
G |
T |
14: 30,939,922 (GRCm39) |
V19L |
probably benign |
Het |
| Sult2a7 |
T |
C |
7: 14,225,648 (GRCm39) |
T113A |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,528,914 (GRCm39) |
D128G |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,299,787 (GRCm39) |
R155Q |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,832,557 (GRCm39) |
L2150P |
probably damaging |
Het |
| Vmn1r40 |
A |
C |
6: 89,691,948 (GRCm39) |
N255T |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,439 (GRCm39) |
N615D |
probably damaging |
Het |
| Zdhhc25 |
A |
G |
15: 88,485,217 (GRCm39) |
E184G |
probably damaging |
Het |
|
| Other mutations in Mfsd11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Mfsd11
|
APN |
11 |
116,749,322 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL00809:Mfsd11
|
APN |
11 |
116,750,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02182:Mfsd11
|
APN |
11 |
116,764,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02582:Mfsd11
|
APN |
11 |
116,764,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02794:Mfsd11
|
APN |
11 |
116,750,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0416:Mfsd11
|
UTSW |
11 |
116,756,708 (GRCm39) |
splice site |
probably benign |
|
|
R1229:Mfsd11
|
UTSW |
11 |
116,764,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1397:Mfsd11
|
UTSW |
11 |
116,764,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Mfsd11
|
UTSW |
11 |
116,764,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2081:Mfsd11
|
UTSW |
11 |
116,752,381 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4554:Mfsd11
|
UTSW |
11 |
116,752,406 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5888:Mfsd11
|
UTSW |
11 |
116,762,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6959:Mfsd11
|
UTSW |
11 |
116,752,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7807:Mfsd11
|
UTSW |
11 |
116,754,733 (GRCm39) |
missense |
probably benign |
|
|
R7990:Mfsd11
|
UTSW |
11 |
116,750,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8073:Mfsd11
|
UTSW |
11 |
116,754,749 (GRCm39) |
missense |
probably benign |
|
|
R8692:Mfsd11
|
UTSW |
11 |
116,752,443 (GRCm39) |
missense |
probably benign |
|
|
R8851:Mfsd11
|
UTSW |
11 |
116,752,479 (GRCm39) |
missense |
probably benign |
|
|
R8887:Mfsd11
|
UTSW |
11 |
116,745,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8954:Mfsd11
|
UTSW |
11 |
116,750,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9151:Mfsd11
|
UTSW |
11 |
116,750,323 (GRCm39) |
missense |
|
|
|
R9318:Mfsd11
|
UTSW |
11 |
116,750,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9389:Mfsd11
|
UTSW |
11 |
116,764,161 (GRCm39) |
missense |
probably benign |
|
|
X0018:Mfsd11
|
UTSW |
11 |
116,744,911 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1176:Mfsd11
|
UTSW |
11 |
116,754,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation