Incidental Mutation 'IGL02283:Sdf4'
ID |
289905 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sdf4
|
Ensembl Gene |
ENSMUSG00000029076 |
Gene Name |
stromal cell derived factor 4 |
Synonyms |
Cab45 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
IGL02283
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
156077329-156098067 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 156093293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 208
(N208K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050078]
[ENSMUST00000105578]
[ENSMUST00000105579]
|
AlphaFold |
Q61112 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050078
AA Change: N208K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053175 Gene: ENSMUSG00000029076 AA Change: N208K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
low complexity region
|
44 |
54 |
N/A |
INTRINSIC |
EFh
|
101 |
129 |
7.93e-1 |
SMART |
EFh
|
140 |
168 |
3.34e1 |
SMART |
EFh
|
236 |
264 |
3.48e-1 |
SMART |
EFh
|
284 |
309 |
4.08e1 |
SMART |
EFh
|
317 |
345 |
2.9e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105578
AA Change: N208K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101203 Gene: ENSMUSG00000029076 AA Change: N208K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
low complexity region
|
44 |
54 |
N/A |
INTRINSIC |
EFh
|
101 |
129 |
7.93e-1 |
SMART |
EFh
|
140 |
168 |
3.34e1 |
SMART |
EFh
|
236 |
264 |
3.48e-1 |
SMART |
EFh
|
284 |
309 |
4.08e1 |
SMART |
EFh
|
317 |
345 |
2.9e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105579
AA Change: N208K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101204 Gene: ENSMUSG00000029076 AA Change: N208K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
low complexity region
|
44 |
54 |
N/A |
INTRINSIC |
EFh
|
101 |
129 |
7.93e-1 |
SMART |
EFh
|
140 |
168 |
3.34e1 |
SMART |
EFh
|
236 |
264 |
3.48e-1 |
SMART |
EFh
|
284 |
309 |
4.08e1 |
SMART |
EFh
|
317 |
345 |
2.9e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149971
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the CREC family. The encoded protein contains multiple calcium-binding EF-hand motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
T |
C |
10: 83,331,759 (GRCm39) |
Y682C |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,609,450 (GRCm39) |
|
probably null |
Het |
Arhgap1 |
A |
G |
2: 91,501,121 (GRCm39) |
N399S |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,254,248 (GRCm39) |
I511N |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,906,935 (GRCm39) |
C1428S |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,948,943 (GRCm39) |
T190A |
possibly damaging |
Het |
Cpd |
A |
T |
11: 76,731,251 (GRCm39) |
D318E |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,125,912 (GRCm39) |
V1898E |
probably damaging |
Het |
Gon4l |
T |
C |
3: 88,802,671 (GRCm39) |
M1095T |
probably damaging |
Het |
Gypa |
G |
A |
8: 81,220,721 (GRCm39) |
|
probably benign |
Het |
Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,365,168 (GRCm39) |
T1633A |
probably benign |
Het |
Mars2 |
T |
C |
1: 55,277,933 (GRCm39) |
V512A |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,778,956 (GRCm39) |
N1571D |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,613,265 (GRCm39) |
D846G |
probably benign |
Het |
Or2ak6 |
A |
T |
11: 58,593,102 (GRCm39) |
T192S |
probably damaging |
Het |
Or2y1b |
A |
G |
11: 49,209,162 (GRCm39) |
D263G |
probably benign |
Het |
Or4d11 |
A |
G |
19: 12,013,219 (GRCm39) |
S296P |
possibly damaging |
Het |
Or7a41 |
T |
C |
10: 78,871,379 (GRCm39) |
S250P |
probably damaging |
Het |
Rprd2 |
A |
T |
3: 95,672,815 (GRCm39) |
S863T |
probably damaging |
Het |
Sftpd |
A |
T |
14: 40,894,423 (GRCm39) |
V332D |
probably benign |
Het |
Sh2b3 |
T |
C |
5: 121,956,718 (GRCm39) |
D321G |
probably benign |
Het |
Slc45a2 |
T |
A |
15: 11,001,268 (GRCm39) |
N122K |
probably damaging |
Het |
Slk |
T |
A |
19: 47,630,432 (GRCm39) |
F1170Y |
probably damaging |
Het |
Spata7 |
A |
C |
12: 98,624,517 (GRCm39) |
T140P |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,694,356 (GRCm39) |
L497S |
probably damaging |
Het |
|
Other mutations in Sdf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01161:Sdf4
|
APN |
4 |
156,093,763 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02666:Sdf4
|
APN |
4 |
156,093,281 (GRCm39) |
nonsense |
probably null |
|
IGL02893:Sdf4
|
APN |
4 |
156,080,985 (GRCm39) |
splice site |
probably benign |
|
IGL03246:Sdf4
|
APN |
4 |
156,085,154 (GRCm39) |
missense |
probably benign |
0.01 |
soap
|
UTSW |
4 |
156,086,916 (GRCm39) |
splice site |
probably null |
|
R1648:Sdf4
|
UTSW |
4 |
156,083,886 (GRCm39) |
missense |
probably damaging |
0.96 |
R1879:Sdf4
|
UTSW |
4 |
156,094,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R1893:Sdf4
|
UTSW |
4 |
156,085,205 (GRCm39) |
missense |
probably benign |
0.22 |
R3793:Sdf4
|
UTSW |
4 |
156,086,916 (GRCm39) |
splice site |
probably null |
|
R4255:Sdf4
|
UTSW |
4 |
156,085,214 (GRCm39) |
missense |
probably benign |
0.00 |
R4436:Sdf4
|
UTSW |
4 |
156,093,404 (GRCm39) |
critical splice donor site |
probably null |
|
R4801:Sdf4
|
UTSW |
4 |
156,085,178 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4802:Sdf4
|
UTSW |
4 |
156,085,178 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4868:Sdf4
|
UTSW |
4 |
156,093,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R5752:Sdf4
|
UTSW |
4 |
156,080,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Sdf4
|
UTSW |
4 |
156,083,856 (GRCm39) |
missense |
probably benign |
0.03 |
R7501:Sdf4
|
UTSW |
4 |
156,080,977 (GRCm39) |
critical splice donor site |
probably null |
|
R8109:Sdf4
|
UTSW |
4 |
156,094,295 (GRCm39) |
missense |
probably damaging |
0.99 |
R8167:Sdf4
|
UTSW |
4 |
156,093,379 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8867:Sdf4
|
UTSW |
4 |
156,093,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |