Incidental Mutation 'IGL00809:Mfsd11'
| ID |
11982 |
| 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 # |
IGL00809
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116743266-116766461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116750177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 105
(S105T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021173]
[ENSMUST00000106363]
[ENSMUST00000106365]
[ENSMUST00000136012]
[ENSMUST00000139954]
[ENSMUST00000153084]
|
| AlphaFold |
Q8BJ51 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021173
AA Change: S105T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: S105T
| 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 |
possibly damaging
Transcript: ENSMUST00000106363
AA Change: I88N
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818
AA Change: I88N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
92 |
6e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106365
AA Change: H96Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818
AA Change: H96Q
| 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
AA Change: H96Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818
AA Change: H96Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
91 |
7.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139954
AA Change: H96Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818
AA Change: H96Q
| 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: S105T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: S105T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151944
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,983 (GRCm39) |
T113A |
possibly damaging |
Het |
| Akap10 |
T |
A |
11: 61,805,897 (GRCm39) |
N277I |
possibly damaging |
Het |
| Ankrd24 |
A |
T |
10: 81,478,901 (GRCm39) |
|
probably benign |
Het |
| Bfsp2 |
T |
C |
9: 103,330,297 (GRCm39) |
E180G |
possibly damaging |
Het |
| Cd55 |
A |
T |
1: 130,380,248 (GRCm39) |
Y243* |
probably null |
Het |
| Col17a1 |
G |
T |
19: 47,669,842 (GRCm39) |
H103Q |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,237,463 (GRCm39) |
H311Q |
probably damaging |
Het |
| Dnah1 |
G |
A |
14: 31,022,766 (GRCm39) |
Q1124* |
probably null |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fzr1 |
G |
T |
10: 81,206,359 (GRCm39) |
S137* |
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,736,146 (GRCm39) |
I298T |
possibly damaging |
Het |
| Hnrnpa2b1 |
C |
T |
6: 51,443,993 (GRCm39) |
G65S |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,793,324 (GRCm39) |
Y88* |
probably null |
Het |
| Itga2 |
C |
A |
13: 115,014,161 (GRCm39) |
A256S |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,775,038 (GRCm39) |
|
probably null |
Het |
| Ivl |
T |
A |
3: 92,479,819 (GRCm39) |
Q82L |
possibly damaging |
Het |
| Lin28a |
C |
T |
4: 133,735,367 (GRCm39) |
G90S |
probably damaging |
Het |
| Lkaaear1 |
A |
T |
2: 181,339,127 (GRCm39) |
S108T |
probably benign |
Het |
| Osbpl9 |
C |
T |
4: 108,990,960 (GRCm39) |
R100H |
probably damaging |
Het |
| Pals2 |
C |
T |
6: 50,173,569 (GRCm39) |
R478C |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,725,811 (GRCm39) |
D1556E |
unknown |
Het |
| Phip |
G |
A |
9: 82,753,356 (GRCm39) |
S1796F |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,895,983 (GRCm39) |
S226P |
probably benign |
Het |
| Rapgef6 |
C |
A |
11: 54,540,126 (GRCm39) |
Q734K |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,279 (GRCm39) |
I1802N |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,684,038 (GRCm39) |
|
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,970,301 (GRCm39) |
I373V |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,590,750 (GRCm39) |
D303V |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,095,968 (GRCm39) |
I1163T |
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 |
|
IGL01999:Mfsd11
|
APN |
11 |
116,752,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2012-12-06 |
Incidental Mutation