Incidental Mutation 'R5621:Sphk1'
ID |
441575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sphk1
|
Ensembl Gene |
ENSMUSG00000061878 |
Gene Name |
sphingosine kinase 1 |
Synonyms |
1110006G24Rik, SK1 |
MMRRC Submission |
043279-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5621 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
116421751-116427501 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 116427192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063396]
[ENSMUST00000063446]
[ENSMUST00000082152]
[ENSMUST00000100201]
[ENSMUST00000106386]
[ENSMUST00000106387]
[ENSMUST00000141798]
[ENSMUST00000106388]
[ENSMUST00000124682]
[ENSMUST00000138840]
[ENSMUST00000145737]
[ENSMUST00000154034]
[ENSMUST00000155102]
|
AlphaFold |
Q8CI15 |
Predicted Effect |
unknown
Transcript: ENSMUST00000063396
AA Change: P377S
|
SMART Domains |
Protein: ENSMUSP00000064743 Gene: ENSMUSG00000061878 AA Change: P377S
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000063446
AA Change: P377S
|
SMART Domains |
Protein: ENSMUSP00000067865 Gene: ENSMUSG00000061878 AA Change: P377S
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082152
|
SMART Domains |
Protein: ENSMUSP00000080791 Gene: ENSMUSG00000020802
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
low complexity region
|
79 |
110 |
N/A |
INTRINSIC |
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
low complexity region
|
470 |
505 |
N/A |
INTRINSIC |
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
low complexity region
|
705 |
712 |
N/A |
INTRINSIC |
low complexity region
|
715 |
737 |
N/A |
INTRINSIC |
coiled coil region
|
845 |
879 |
N/A |
INTRINSIC |
UBCc
|
953 |
1110 |
2.23e-16 |
SMART |
Blast:UBCc
|
1201 |
1274 |
1e-15 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000100201
AA Change: P376S
|
SMART Domains |
Protein: ENSMUSP00000097775 Gene: ENSMUSG00000061878 AA Change: P376S
Domain | Start | End | E-Value | Type |
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
low complexity region
|
256 |
262 |
N/A |
INTRINSIC |
low complexity region
|
367 |
381 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000106386
AA Change: P377S
|
SMART Domains |
Protein: ENSMUSP00000101994 Gene: ENSMUSG00000061878 AA Change: P377S
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000106387
AA Change: P377S
|
SMART Domains |
Protein: ENSMUSP00000101995 Gene: ENSMUSG00000061878 AA Change: P377S
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000141798
AA Change: P383S
|
SMART Domains |
Protein: ENSMUSP00000131010 Gene: ENSMUSG00000061878 AA Change: P383S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
DAGKc
|
22 |
159 |
1.19e-8 |
SMART |
low complexity region
|
263 |
269 |
N/A |
INTRINSIC |
low complexity region
|
374 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000106388
AA Change: P377S
|
SMART Domains |
Protein: ENSMUSP00000101996 Gene: ENSMUSG00000061878 AA Change: P377S
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
low complexity region
|
257 |
263 |
N/A |
INTRINSIC |
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134834
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136526
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134102
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124682
|
SMART Domains |
Protein: ENSMUSP00000116055 Gene: ENSMUSG00000061878
Domain | Start | End | E-Value | Type |
DAGKc
|
16 |
153 |
1.19e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138840
|
SMART Domains |
Protein: ENSMUSP00000121064 Gene: ENSMUSG00000061878
Domain | Start | End | E-Value | Type |
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145737
|
SMART Domains |
Protein: ENSMUSP00000114622 Gene: ENSMUSG00000061878
Domain | Start | End | E-Value | Type |
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154034
|
SMART Domains |
Protein: ENSMUSP00000121219 Gene: ENSMUSG00000061878
Domain | Start | End | E-Value | Type |
DAGKc
|
15 |
152 |
1.19e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155102
|
SMART Domains |
Protein: ENSMUSP00000114819 Gene: ENSMUSG00000061878
Domain | Start | End | E-Value | Type |
Pfam:DAGK_cat
|
16 |
116 |
4.6e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186169
|
Meta Mutation Damage Score |
0.0908 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (63/64) |
MGI Phenotype |
FUNCTION: This gene encodes a kinase that phosphorylates sphingosine into sphingosine-1-phosphate, which is involved in cell differentiation, motility, and apoptosis. The encoded protein plays a role in maintaining cellular levels of sphingosine-1-phosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] PHENOTYPE: Homozygous null mice are viable, fertile, and without any obvious abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
T |
G |
17: 85,003,421 (GRCm39) |
L417R |
probably damaging |
Het |
Adrm1b |
G |
A |
3: 92,335,664 (GRCm39) |
A346V |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,231,049 (GRCm39) |
V854A |
probably benign |
Het |
Bbox1 |
C |
T |
2: 110,122,868 (GRCm39) |
W140* |
probably null |
Het |
Ccdc28a |
A |
T |
10: 18,092,016 (GRCm39) |
N110K |
probably benign |
Het |
Chrna6 |
C |
T |
8: 27,897,068 (GRCm39) |
E270K |
probably damaging |
Het |
Cilp |
A |
G |
9: 65,186,073 (GRCm39) |
K723E |
possibly damaging |
Het |
Ciz1 |
C |
A |
2: 32,261,753 (GRCm39) |
A455E |
probably damaging |
Het |
Csmd3 |
T |
G |
15: 48,177,374 (GRCm39) |
H388P |
possibly damaging |
Het |
Dnajc8 |
A |
G |
4: 132,280,563 (GRCm39) |
|
probably benign |
Het |
Dnase1 |
G |
T |
16: 3,856,982 (GRCm39) |
C164F |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,120,909 (GRCm39) |
I2126K |
possibly damaging |
Het |
Epha4 |
G |
T |
1: 77,491,686 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,430,175 (GRCm39) |
C201R |
probably damaging |
Het |
Fgf8 |
T |
C |
19: 45,730,821 (GRCm39) |
Y68C |
probably benign |
Het |
Gabrb1 |
A |
T |
5: 72,266,071 (GRCm39) |
I243F |
probably damaging |
Het |
Gpam |
A |
C |
19: 55,067,692 (GRCm39) |
S484A |
probably damaging |
Het |
Hectd2 |
T |
A |
19: 36,596,151 (GRCm39) |
N745K |
probably damaging |
Het |
Hspa13 |
T |
C |
16: 75,563,651 (GRCm39) |
|
probably benign |
Het |
Ints2 |
A |
G |
11: 86,133,773 (GRCm39) |
F426L |
probably benign |
Het |
Ism1 |
A |
G |
2: 139,520,641 (GRCm39) |
T18A |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,107,616 (GRCm39) |
Q650L |
probably benign |
Het |
Jmjd4 |
T |
C |
11: 59,341,219 (GRCm39) |
F50S |
probably damaging |
Het |
Kif5b |
T |
C |
18: 6,226,883 (GRCm39) |
N125S |
probably benign |
Het |
Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
Lrfn1 |
A |
G |
7: 28,166,261 (GRCm39) |
I552V |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,682,186 (GRCm39) |
E441G |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,716,371 (GRCm39) |
H2144Q |
possibly damaging |
Het |
Mms19 |
A |
G |
19: 41,954,752 (GRCm39) |
S56P |
probably benign |
Het |
Mrgprb3 |
A |
G |
7: 48,293,116 (GRCm39) |
I145T |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,062,719 (GRCm39) |
T287I |
probably damaging |
Het |
Npas2 |
A |
G |
1: 39,398,794 (GRCm39) |
T730A |
probably benign |
Het |
Or4c108 |
T |
C |
2: 88,803,810 (GRCm39) |
I142V |
probably benign |
Het |
Or4c15b |
G |
A |
2: 89,112,697 (GRCm39) |
P281L |
probably damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,815,222 (GRCm39) |
E571G |
possibly damaging |
Het |
Pcx |
T |
A |
19: 4,669,195 (GRCm39) |
V731E |
possibly damaging |
Het |
Pgm2 |
T |
A |
5: 64,269,381 (GRCm39) |
Y489* |
probably null |
Het |
Rrp12 |
T |
C |
19: 41,868,856 (GRCm39) |
T541A |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,731,329 (GRCm39) |
W660* |
probably null |
Het |
Sertad2 |
T |
A |
11: 20,598,061 (GRCm39) |
F86I |
possibly damaging |
Het |
Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
Slc22a22 |
G |
T |
15: 57,122,547 (GRCm39) |
F143L |
probably benign |
Het |
Slc22a28 |
C |
T |
19: 8,048,376 (GRCm39) |
V424I |
probably benign |
Het |
Slc7a11 |
T |
G |
3: 50,393,324 (GRCm39) |
K106N |
probably damaging |
Het |
Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
Spock3 |
A |
T |
8: 63,597,040 (GRCm39) |
T118S |
probably benign |
Het |
Stk17b |
G |
T |
1: 53,810,943 (GRCm39) |
S54* |
probably null |
Het |
Sycp2 |
A |
G |
2: 178,023,711 (GRCm39) |
I435T |
probably benign |
Het |
Tm2d3 |
G |
T |
7: 65,351,366 (GRCm39) |
D207Y |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,387,280 (GRCm38) |
N123Y |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,677,202 (GRCm39) |
T2044A |
possibly damaging |
Het |
Usp6nl |
A |
G |
2: 6,445,243 (GRCm39) |
S407G |
probably benign |
Het |
Vmn1r195 |
G |
A |
13: 22,462,559 (GRCm39) |
V10I |
probably benign |
Het |
Zfp292 |
C |
T |
4: 34,811,703 (GRCm39) |
R447H |
probably damaging |
Het |
|
Other mutations in Sphk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
P0040:Sphk1
|
UTSW |
11 |
116,425,891 (GRCm39) |
splice site |
probably benign |
|
R0565:Sphk1
|
UTSW |
11 |
116,427,184 (GRCm39) |
unclassified |
probably benign |
|
R1307:Sphk1
|
UTSW |
11 |
116,426,928 (GRCm39) |
missense |
probably benign |
0.09 |
R1635:Sphk1
|
UTSW |
11 |
116,426,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Sphk1
|
UTSW |
11 |
116,426,676 (GRCm39) |
missense |
probably benign |
0.00 |
R4685:Sphk1
|
UTSW |
11 |
116,426,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R5440:Sphk1
|
UTSW |
11 |
116,425,714 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6767:Sphk1
|
UTSW |
11 |
116,426,982 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7150:Sphk1
|
UTSW |
11 |
116,425,907 (GRCm39) |
missense |
probably benign |
0.07 |
R7207:Sphk1
|
UTSW |
11 |
116,426,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R7758:Sphk1
|
UTSW |
11 |
116,427,063 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8084:Sphk1
|
UTSW |
11 |
116,425,904 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8733:Sphk1
|
UTSW |
11 |
116,426,451 (GRCm39) |
missense |
probably benign |
0.32 |
R8827:Sphk1
|
UTSW |
11 |
116,426,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R9034:Sphk1
|
UTSW |
11 |
116,426,449 (GRCm39) |
missense |
probably damaging |
1.00 |
RF018:Sphk1
|
UTSW |
11 |
116,425,771 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTCCATACCTGGTTCATG -3'
(R):5'- GGCTCTACTGGGGATGTTACTC -3'
Sequencing Primer
(F):5'- ATACCTGGTTCATGTGCCCGTG -3'
(R):5'- CTCTACTGGGGATGTTACTCTAACTG -3'
|
Posted On |
2016-11-08 |