Incidental Mutation 'R3793:Sdf4'
| ID |
272639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdf4
|
| Ensembl Gene |
ENSMUSG00000029076 |
| Gene Name |
stromal cell derived factor 4 |
| Synonyms |
Cab45 |
| MMRRC Submission |
040755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R3793 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156077329-156098067 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 156086916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050078]
[ENSMUST00000097734]
[ENSMUST00000097734]
[ENSMUST00000097734]
[ENSMUST00000105578]
[ENSMUST00000105579]
|
| AlphaFold |
Q61112 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050078
|
| SMART Domains |
Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
| 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 null
Transcript: ENSMUST00000097734
|
| SMART Domains |
Protein: ENSMUSP00000095340
Gene: ENSMUSG00000029076
| 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 null
Transcript: ENSMUST00000097734
|
| SMART Domains |
Protein: ENSMUSP00000095340
Gene: ENSMUSG00000029076
| 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 null
Transcript: ENSMUST00000097734
|
| SMART Domains |
Protein: ENSMUSP00000095340
Gene: ENSMUSG00000029076
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,259,889 (GRCm39) |
T35A |
probably benign |
Het |
| Arhgap32 |
T |
A |
9: 32,166,669 (GRCm39) |
S435R |
probably damaging |
Het |
| Asic1 |
A |
T |
15: 99,569,906 (GRCm39) |
K76* |
probably null |
Het |
| B9d1 |
A |
G |
11: 61,398,448 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,619,876 (GRCm39) |
V207A |
possibly damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cnfn |
T |
C |
7: 25,067,805 (GRCm39) |
N45S |
probably benign |
Het |
| Col14a1 |
G |
T |
15: 55,226,909 (GRCm39) |
D220Y |
unknown |
Het |
| Csn1s1 |
T |
A |
5: 87,828,702 (GRCm39) |
Y274* |
probably null |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,600 (GRCm39) |
T140A |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,459,743 (GRCm39) |
|
probably benign |
Het |
| Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,414,925 (GRCm39) |
D1366N |
possibly damaging |
Het |
| Itga4 |
A |
G |
2: 79,109,472 (GRCm39) |
T224A |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,952,588 (GRCm39) |
M844L |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,651,345 (GRCm39) |
S46N |
probably damaging |
Het |
| Lhx1 |
A |
G |
11: 84,412,726 (GRCm39) |
S65P |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,685 (GRCm39) |
S208G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
| Nfrkb |
A |
T |
9: 31,321,228 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
| Nlrp14 |
A |
T |
7: 106,781,481 (GRCm39) |
Q226L |
probably benign |
Het |
| Ocln |
T |
C |
13: 100,635,402 (GRCm39) |
R496G |
possibly damaging |
Het |
| Or2b2b |
T |
C |
13: 21,859,153 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
A |
9: 19,938,359 (GRCm39) |
I292F |
probably damaging |
Het |
| Osgepl1 |
T |
C |
1: 53,359,406 (GRCm39) |
I305T |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,487 (GRCm39) |
N266S |
probably benign |
Het |
| Per1 |
A |
G |
11: 69,000,127 (GRCm39) |
E1273G |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,605,252 (GRCm39) |
Y1542H |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,190,994 (GRCm39) |
F252L |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,407,700 (GRCm39) |
D607E |
probably damaging |
Het |
| Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,622,033 (GRCm39) |
Y531C |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,870,087 (GRCm39) |
S61T |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
| Uba2 |
A |
C |
7: 33,845,722 (GRCm39) |
V467G |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,747,525 (GRCm39) |
S263P |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,465 (GRCm39) |
T239A |
probably benign |
Het |
| Wac |
T |
C |
18: 7,920,190 (GRCm39) |
V348A |
possibly damaging |
Het |
| Wdr3 |
A |
T |
3: 100,059,281 (GRCm39) |
M346K |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,578,331 (GRCm39) |
H467L |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCCATGTGAAGTACAGTG -3'
(R):5'- TCCCAAAGGAGTCACAGATGG -3'
Sequencing Primer
(F):5'- CCCATGTGAAGTACAGTGATGACC -3'
(R):5'- AGTCACAGATGGATTGCTGTGAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation