Incidental Mutation 'R2345:Mfsd4b3-ps'
| ID |
245986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd4b3-ps
|
| Ensembl Gene |
ENSMUSG00000071335 |
| Gene Name |
major facilitator superfamily domain containing 4B3, pseudogene |
| Synonyms |
G630090E17Rik, Mfsd4b3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R2345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
39822919-39836086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39824069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 64
(M64L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095749]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095749
AA Change: M64L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093420
Gene: ENSMUSG00000071335
AA Change: M64L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
173 |
195 |
N/A |
INTRINSIC |
|
transmembrane domain
|
236 |
258 |
N/A |
INTRINSIC |
|
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
transmembrane domain
|
297 |
319 |
N/A |
INTRINSIC |
|
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0878 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,914,580 (GRCm39) |
M48K |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,210,740 (GRCm39) |
E638G |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Ceacam3 |
T |
G |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Ckb |
G |
A |
12: 111,638,238 (GRCm39) |
T52I |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,891,900 (GRCm39) |
M773T |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,203,872 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,156,806 (GRCm39) |
D582G |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,983,348 (GRCm39) |
N982K |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,872,684 (GRCm39) |
E1190G |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,370 (GRCm39) |
E90G |
probably damaging |
Het |
| Kynu |
A |
C |
2: 43,471,397 (GRCm39) |
Y71S |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,690,016 (GRCm39) |
|
probably null |
Het |
| Nbea |
A |
T |
3: 55,992,700 (GRCm39) |
F302Y |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,501,769 (GRCm39) |
S111P |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or1f19 |
G |
A |
16: 3,411,003 (GRCm39) |
V248M |
probably damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,166 (GRCm39) |
T2A |
probably benign |
Het |
| Or8b57 |
T |
G |
9: 40,003,849 (GRCm39) |
I138L |
probably benign |
Het |
| Phf3 |
G |
T |
1: 30,844,432 (GRCm39) |
S1509* |
probably null |
Het |
| Plekhh1 |
A |
T |
12: 79,100,421 (GRCm39) |
I130F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,238,594 (GRCm39) |
F1953S |
unknown |
Het |
| Togaram1 |
T |
A |
12: 65,055,406 (GRCm39) |
S1466T |
probably benign |
Het |
| Tox2 |
T |
C |
2: 163,161,518 (GRCm39) |
Y348H |
probably damaging |
Het |
| Vmn2r129 |
T |
A |
4: 156,689,334 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr90 |
G |
T |
17: 26,078,136 (GRCm39) |
H411N |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,798 (GRCm39) |
T632I |
probably damaging |
Het |
|
| Other mutations in Mfsd4b3-ps |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Mfsd4b3-ps
|
APN |
10 |
39,824,068 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02903:Mfsd4b3-ps
|
APN |
10 |
39,823,639 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02984:Mfsd4b3-ps
|
APN |
10 |
39,823,184 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03013:Mfsd4b3-ps
|
APN |
10 |
39,823,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0322:Mfsd4b3-ps
|
UTSW |
10 |
39,823,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1238:Mfsd4b3-ps
|
UTSW |
10 |
39,823,222 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1750:Mfsd4b3-ps
|
UTSW |
10 |
39,823,929 (GRCm39) |
missense |
probably benign |
|
|
R4027:Mfsd4b3-ps
|
UTSW |
10 |
39,823,343 (GRCm39) |
missense |
probably benign |
|
|
R4906:Mfsd4b3-ps
|
UTSW |
10 |
39,824,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Mfsd4b3-ps
|
UTSW |
10 |
39,823,686 (GRCm39) |
nonsense |
probably null |
|
|
R6456:Mfsd4b3-ps
|
UTSW |
10 |
39,823,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8955:Mfsd4b3-ps
|
UTSW |
10 |
39,824,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9115:Mfsd4b3-ps
|
UTSW |
10 |
39,824,012 (GRCm39) |
nonsense |
probably null |
|
|
R9256:Mfsd4b3-ps
|
UTSW |
10 |
39,824,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9461:Mfsd4b3-ps
|
UTSW |
10 |
39,823,247 (GRCm39) |
missense |
probably benign |
|
|
X0026:Mfsd4b3-ps
|
UTSW |
10 |
39,823,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTAAAACATAGGTGCCGATGG -3'
(R):5'- TCTTTAGTGGCTGCCAACTC -3'
Sequencing Primer
(F):5'- CAGCAGATTCATGTCATCGGGTAC -3'
(R):5'- TTTAGTGGCTGCCAACTCCAAATAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation