Incidental Mutation 'R1229:Mfsd11'
| ID |
172435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd11
|
| Ensembl Gene |
ENSMUSG00000020818 |
| Gene Name |
major facilitator superfamily domain containing 11 |
| Synonyms |
2600014M03Rik |
| MMRRC Submission |
039298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R1229 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116743266-116766461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116764123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 368
(F368S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021173
(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: F368S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: F368S
| 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: ENSMUST00000134106
|
| 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 |
probably damaging
Transcript: ENSMUST00000153084
AA Change: F316S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: F316S
| 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 |
|
| Meta Mutation Damage Score |
0.9333 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid1a |
A |
C |
4: 133,418,548 (GRCm39) |
L1012V |
unknown |
Het |
| Bzw1 |
A |
G |
1: 58,433,378 (GRCm39) |
N35S |
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,362,371 (GRCm39) |
D51G |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,032,808 (GRCm39) |
M409K |
probably benign |
Het |
| Fam13b |
C |
T |
18: 34,578,636 (GRCm39) |
M705I |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,793,102 (GRCm39) |
Y558C |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,768,673 (GRCm39) |
I1409T |
probably benign |
Het |
| Neb |
C |
A |
2: 52,133,955 (GRCm39) |
V3343F |
probably damaging |
Het |
| Nrp1 |
T |
G |
8: 129,145,197 (GRCm39) |
Y84* |
probably null |
Het |
| Or4n5 |
G |
A |
14: 50,132,711 (GRCm39) |
Q183* |
probably null |
Het |
| Pate2 |
T |
A |
9: 35,580,991 (GRCm39) |
F2I |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,365,106 (GRCm39) |
T155S |
probably benign |
Het |
| Slc28a2 |
T |
A |
2: 122,291,012 (GRCm39) |
C659* |
probably null |
Het |
| Tram1 |
T |
C |
1: 13,639,776 (GRCm39) |
R324G |
probably damaging |
Het |
| Wdr19 |
A |
T |
5: 65,413,734 (GRCm39) |
I1226F |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- gcctcttcaccaaataaaaacaaaaCAAACTG -3'
(R):5'- AGCAAGCCCACTGTGCCTG -3'
Sequencing Primer
(F):5'- cgtcctagaactccctaagacc -3'
(R):5'- CCACTGTGCCTGGTTCTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation