Incidental Mutation 'IGL03246:Sdf4'
| ID |
414415 |
| 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 # |
IGL03246
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
156077329-156098067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156085154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 163
(V163A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050078]
[ENSMUST00000097734]
[ENSMUST00000105578]
[ENSMUST00000105579]
|
| AlphaFold |
Q61112 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050078
AA Change: V163A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
AA Change: V163A
| 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: ENSMUST00000097734
AA Change: V163A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000095340
Gene: ENSMUSG00000029076
AA Change: V163A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105578
AA Change: V163A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
AA Change: V163A
| 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: V163A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
AA Change: V163A
| 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: ENSMUST00000124872
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,303,238 (GRCm39) |
H392Q |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,076,841 (GRCm39) |
I547L |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,689,855 (GRCm39) |
H52R |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,433,842 (GRCm39) |
I979L |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,875,156 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
C |
A |
1: 44,206,241 (GRCm39) |
P385T |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,845,848 (GRCm39) |
M299I |
probably damaging |
Het |
| Flcn |
A |
T |
11: 59,684,936 (GRCm39) |
I505N |
possibly damaging |
Het |
| Fn1 |
G |
A |
1: 71,663,455 (GRCm39) |
T1011I |
possibly damaging |
Het |
| Klhl28 |
T |
C |
12: 65,004,060 (GRCm39) |
D151G |
probably benign |
Het |
| Klk13 |
T |
A |
7: 43,370,422 (GRCm39) |
N28K |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,420 (GRCm39) |
V396A |
probably benign |
Het |
| Mageb11 |
C |
A |
X: 89,936,008 (GRCm39) |
H87Q |
probably benign |
Het |
| Magi2 |
T |
A |
5: 20,563,948 (GRCm39) |
I360K |
probably damaging |
Het |
| Myh7b |
T |
C |
2: 155,459,792 (GRCm39) |
I251T |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,296,395 (GRCm39) |
I85K |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,919 (GRCm39) |
C311R |
probably benign |
Het |
| Pbrm1 |
A |
T |
14: 30,832,506 (GRCm39) |
M1490L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,727,631 (GRCm39) |
|
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,507,485 (GRCm39) |
K357R |
possibly damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,581,530 (GRCm39) |
T601I |
probably benign |
Het |
| Pof1b |
A |
T |
X: 111,557,817 (GRCm39) |
N366K |
probably benign |
Het |
| Prr9 |
A |
G |
3: 92,030,286 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
G |
T |
6: 22,986,159 (GRCm39) |
A320S |
probably damaging |
Het |
| Ripor1 |
A |
G |
8: 106,342,490 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Rnf13 |
A |
G |
3: 57,676,471 (GRCm39) |
E42G |
probably damaging |
Het |
| Smc2 |
C |
T |
4: 52,440,301 (GRCm39) |
Q16* |
probably null |
Het |
| Srsf3-ps |
T |
A |
11: 98,516,119 (GRCm39) |
R85* |
probably null |
Het |
| Tbck |
T |
A |
3: 132,480,331 (GRCm39) |
C737S |
probably benign |
Het |
| Tra2a |
A |
T |
6: 49,226,019 (GRCm39) |
Y140* |
probably null |
Het |
| Vcpip1 |
A |
C |
1: 9,816,182 (GRCm39) |
L734V |
probably benign |
Het |
| Vmn1r87 |
G |
A |
7: 12,866,288 (GRCm39) |
|
probably benign |
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 |
|
IGL02283:Sdf4
|
APN |
4 |
156,093,293 (GRCm39) |
missense |
probably benign |
|
|
IGL02666:Sdf4
|
APN |
4 |
156,093,281 (GRCm39) |
nonsense |
probably null |
|
|
IGL02893:Sdf4
|
APN |
4 |
156,080,985 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation