Incidental Mutation 'R2288:Sfxn1'
| ID |
244188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfxn1
|
| Ensembl Gene |
ENSMUSG00000021474 |
| Gene Name |
sideroflexin 1 |
| Synonyms |
A930015P12Rik, 2810002O05Rik |
| MMRRC Submission |
040287-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2288 (G1)
|
| Quality Score |
189 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54225888-54262361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54247976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 234
(I234V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021930]
|
| AlphaFold |
Q99JR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021930
AA Change: I234V
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021930
Gene: ENSMUSG00000021474
AA Change: I234V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mtc
|
16 |
322 |
8.3e-154 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223504
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
T |
C |
17: 42,978,402 (GRCm39) |
T314A |
probably benign |
Het |
| Ces2a |
T |
C |
8: 105,464,069 (GRCm39) |
S234P |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,026,639 (GRCm39) |
N571K |
possibly damaging |
Het |
| Clasp1 |
A |
G |
1: 118,506,608 (GRCm39) |
I940V |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,909,563 (GRCm39) |
L1392S |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,322,636 (GRCm39) |
L111F |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nek10 |
G |
T |
14: 14,853,956 (GRCm38) |
E381* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5m3b |
T |
A |
2: 85,872,377 (GRCm39) |
C239* |
probably null |
Het |
| Peg3 |
T |
C |
7: 6,712,114 (GRCm39) |
E1036G |
probably damaging |
Het |
| Pgap4 |
A |
T |
4: 49,586,445 (GRCm39) |
L241Q |
probably damaging |
Het |
| Psma3 |
T |
G |
12: 71,041,145 (GRCm39) |
D173E |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,597,695 (GRCm39) |
L1135P |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,735,886 (GRCm39) |
V1855A |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,594,157 (GRCm39) |
C419S |
probably damaging |
Het |
| Tlr3 |
T |
A |
8: 45,850,705 (GRCm39) |
I207F |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,739,963 (GRCm39) |
R992S |
probably damaging |
Het |
| V1ra8 |
T |
C |
6: 90,180,024 (GRCm39) |
S76P |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,740,354 (GRCm39) |
D219G |
probably benign |
Het |
| Zfp536 |
T |
A |
7: 37,179,773 (GRCm39) |
D944V |
probably damaging |
Het |
| Zfp683 |
CGGG |
CCGGGGG |
4: 133,783,381 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sfxn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:Sfxn1
|
APN |
13 |
54,247,935 (GRCm39) |
missense |
probably benign |
|
|
IGL01775:Sfxn1
|
APN |
13 |
54,259,758 (GRCm39) |
splice site |
probably benign |
|
|
IGL02536:Sfxn1
|
APN |
13 |
54,239,513 (GRCm39) |
missense |
probably benign |
|
|
R1467:Sfxn1
|
UTSW |
13 |
54,247,890 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1467:Sfxn1
|
UTSW |
13 |
54,247,890 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1468:Sfxn1
|
UTSW |
13 |
54,239,646 (GRCm39) |
splice site |
probably null |
|
|
R1468:Sfxn1
|
UTSW |
13 |
54,239,646 (GRCm39) |
splice site |
probably null |
|
|
R1476:Sfxn1
|
UTSW |
13 |
54,246,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1931:Sfxn1
|
UTSW |
13 |
54,247,952 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2224:Sfxn1
|
UTSW |
13 |
54,239,536 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2225:Sfxn1
|
UTSW |
13 |
54,239,536 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2226:Sfxn1
|
UTSW |
13 |
54,239,536 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4655:Sfxn1
|
UTSW |
13 |
54,246,457 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4989:Sfxn1
|
UTSW |
13 |
54,242,933 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5064:Sfxn1
|
UTSW |
13 |
54,239,588 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5950:Sfxn1
|
UTSW |
13 |
54,245,306 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6046:Sfxn1
|
UTSW |
13 |
54,242,961 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6170:Sfxn1
|
UTSW |
13 |
54,260,526 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6267:Sfxn1
|
UTSW |
13 |
54,247,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6296:Sfxn1
|
UTSW |
13 |
54,247,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6322:Sfxn1
|
UTSW |
13 |
54,258,869 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6500:Sfxn1
|
UTSW |
13 |
54,242,918 (GRCm39) |
missense |
probably benign |
|
|
R6634:Sfxn1
|
UTSW |
13 |
54,247,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6719:Sfxn1
|
UTSW |
13 |
54,260,583 (GRCm39) |
missense |
probably benign |
|
|
R7629:Sfxn1
|
UTSW |
13 |
54,247,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Sfxn1
|
UTSW |
13 |
54,245,250 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8905:Sfxn1
|
UTSW |
13 |
54,246,433 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAGGAGGCACTTGATCTC -3'
(R):5'- CTGGGACACTTTTGAAAGCCC -3'
Sequencing Primer
(F):5'- GGAGGCACTTGATCTCTCTCAACAG -3'
(R):5'- GCCCCAAGCATTTGTAGAGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation