Incidental Mutation 'R6719:Sfxn1'
| ID |
529507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfxn1
|
| Ensembl Gene |
ENSMUSG00000021474 |
| Gene Name |
sideroflexin 1 |
| Synonyms |
A930015P12Rik, 2810002O05Rik |
| MMRRC Submission |
044837-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54225888-54262361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54260583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 310
(H310Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021930]
|
| AlphaFold |
Q99JR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021930
AA Change: H310Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021930
Gene: ENSMUSG00000021474
AA Change: H310Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mtc
|
16 |
322 |
8.3e-154 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
T |
C |
19: 42,041,151 (GRCm39) |
I94T |
possibly damaging |
Het |
| Afp |
T |
A |
5: 90,651,562 (GRCm39) |
N392K |
probably benign |
Het |
| Asrgl1 |
C |
T |
19: 9,090,512 (GRCm39) |
G278D |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,301,377 (GRCm39) |
I611V |
probably damaging |
Het |
| Avl9 |
A |
G |
6: 56,730,370 (GRCm39) |
Y571C |
probably damaging |
Het |
| Clrn1 |
A |
T |
3: 58,753,861 (GRCm39) |
C167S |
probably damaging |
Het |
| Ctsr |
C |
T |
13: 61,308,265 (GRCm39) |
G293D |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,721,332 (GRCm39) |
S1867T |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,847,439 (GRCm39) |
I1025N |
probably damaging |
Het |
| Dppa4 |
G |
A |
16: 48,108,247 (GRCm39) |
A11T |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,114,867 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
G |
9: 15,907,440 (GRCm39) |
L2854P |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,340 (GRCm39) |
S61P |
possibly damaging |
Het |
| Fyb2 |
A |
T |
4: 104,867,656 (GRCm39) |
D669V |
probably benign |
Het |
| Herc2 |
G |
T |
7: 55,862,574 (GRCm39) |
C4081F |
probably damaging |
Het |
| Hexim1 |
T |
C |
11: 103,008,091 (GRCm39) |
L115P |
probably benign |
Het |
| Kat2a |
T |
G |
11: 100,602,967 (GRCm39) |
Q88H |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 102,906,977 (GRCm39) |
Y1581C |
probably damaging |
Het |
| Ltbp4 |
T |
G |
7: 27,028,188 (GRCm39) |
D323A |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,581,876 (GRCm39) |
I115K |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,209,562 (GRCm39) |
D271G |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,092,907 (GRCm39) |
V77D |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pcdha5 |
T |
C |
18: 37,093,925 (GRCm39) |
S145P |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,501,046 (GRCm39) |
E104G |
probably benign |
Het |
| Rho |
T |
C |
6: 115,910,854 (GRCm39) |
I133T |
possibly damaging |
Het |
| Sall3 |
G |
T |
18: 81,014,721 (GRCm39) |
T997K |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,908,896 (GRCm39) |
|
probably null |
Het |
| Slc25a18 |
A |
G |
6: 120,765,215 (GRCm39) |
D92G |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,689,523 (GRCm39) |
I490T |
probably benign |
Het |
| Terf1 |
T |
C |
1: 15,908,460 (GRCm39) |
V351A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 130,087,451 (GRCm39) |
|
probably null |
Het |
| Trgj2 |
A |
G |
13: 19,495,426 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
A |
T |
2: 157,824,220 (GRCm39) |
C1078S |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,375,993 (GRCm39) |
|
probably benign |
Het |
| Tubb1 |
A |
C |
2: 174,299,187 (GRCm39) |
T290P |
probably damaging |
Het |
| Ugt2b35 |
G |
T |
5: 87,155,247 (GRCm39) |
D361Y |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,337,446 (GRCm39) |
S368P |
probably damaging |
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 |
|
R2288:Sfxn1
|
UTSW |
13 |
54,247,976 (GRCm39) |
missense |
probably benign |
0.37 |
|
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 |
|
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'- TCCCAAAGAGAACAGGATGCTC -3'
(R):5'- CACGATTCAAATGTCAGACTCCTG -3'
Sequencing Primer
(F):5'- GTAGCCAGATGCAACCTTTCTG -3'
(R):5'- GACCGGCAGCTTGACTCTTAAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation