Incidental Mutation 'R6660:Spns1'
ID |
526807 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spns1
|
Ensembl Gene |
ENSMUSG00000030741 |
Gene Name |
SPNS lysolipid transporter 1, lysophospholipid |
Synonyms |
2210013K02Rik, spinster homolog |
MMRRC Submission |
044780-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6660 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 125974237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032994]
[ENSMUST00000119754]
[ENSMUST00000119846]
[ENSMUST00000138141]
[ENSMUST00000150476]
[ENSMUST00000205366]
[ENSMUST00000205930]
|
AlphaFold |
Q8R0G7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032994
|
SMART Domains |
Protein: ENSMUSP00000032994 Gene: ENSMUSG00000030741
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
34 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
60 |
250 |
4.6e-15 |
PFAM |
Pfam:OATP
|
60 |
385 |
1.5e-9 |
PFAM |
Pfam:MFS_1
|
65 |
435 |
1.8e-34 |
PFAM |
transmembrane domain
|
462 |
484 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119754
|
SMART Domains |
Protein: ENSMUSP00000112555 Gene: ENSMUSG00000030741
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
34 |
N/A |
INTRINSIC |
Pfam:OATP
|
58 |
147 |
1.2e-8 |
PFAM |
Pfam:Sugar_tr
|
60 |
250 |
1.3e-14 |
PFAM |
Pfam:MFS_1
|
65 |
430 |
2.4e-34 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119846
|
SMART Domains |
Protein: ENSMUSP00000112954 Gene: ENSMUSG00000030741
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
34 |
N/A |
INTRINSIC |
Pfam:OATP
|
58 |
147 |
1.4e-8 |
PFAM |
Pfam:Sugar_tr
|
60 |
250 |
1.5e-14 |
PFAM |
Pfam:MFS_1
|
65 |
433 |
2.5e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126810
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137263
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138141
|
SMART Domains |
Protein: ENSMUSP00000117803 Gene: ENSMUSG00000030741
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
34 |
N/A |
INTRINSIC |
Pfam:OATP
|
58 |
151 |
1.4e-9 |
PFAM |
Pfam:MFS_1
|
65 |
149 |
1.5e-11 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150476
|
SMART Domains |
Protein: ENSMUSP00000115152 Gene: ENSMUSG00000030741
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
28 |
120 |
1.3e-8 |
PFAM |
Pfam:Sugar_tr
|
28 |
220 |
1.6e-15 |
PFAM |
Pfam:MFS_1
|
35 |
237 |
2.4e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205366
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206377
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150748
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutation results in lethality before weaning. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg1 |
A |
T |
11: 120,237,581 (GRCm39) |
I289N |
probably damaging |
Het |
Atg5 |
A |
G |
10: 44,170,651 (GRCm39) |
N99S |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,432,663 (GRCm39) |
Q1223R |
probably benign |
Het |
Cdc42 |
T |
C |
4: 137,056,145 (GRCm39) |
D122G |
probably benign |
Het |
Cpxm1 |
A |
G |
2: 130,238,069 (GRCm39) |
S127P |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,140,634 (GRCm39) |
C730R |
possibly damaging |
Het |
Ddx60 |
T |
A |
8: 62,409,273 (GRCm39) |
H436Q |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,991,014 (GRCm39) |
Y1236C |
probably benign |
Het |
Ep400 |
G |
A |
5: 110,867,313 (GRCm39) |
R1000* |
probably null |
Het |
Ergic3 |
A |
G |
2: 155,859,754 (GRCm39) |
I227V |
probably damaging |
Het |
Fam227b |
G |
T |
2: 125,986,227 (GRCm39) |
P13Q |
probably damaging |
Het |
Gal |
A |
G |
19: 3,460,108 (GRCm39) |
L121P |
possibly damaging |
Het |
Garin2 |
T |
C |
12: 78,762,131 (GRCm39) |
V265A |
possibly damaging |
Het |
Ifi207 |
T |
C |
1: 173,556,972 (GRCm39) |
T589A |
probably benign |
Het |
Intu |
T |
C |
3: 40,586,100 (GRCm39) |
V27A |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,111,495 (GRCm39) |
I2249L |
probably benign |
Het |
Pdc |
T |
C |
1: 150,209,086 (GRCm39) |
Y190H |
probably damaging |
Het |
Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,944,358 (GRCm39) |
V1275A |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,701,512 (GRCm39) |
N314I |
possibly damaging |
Het |
Rpe65 |
A |
T |
3: 159,320,345 (GRCm39) |
N301Y |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,737,770 (GRCm39) |
|
probably null |
Het |
Sh3bp4 |
A |
G |
1: 89,080,888 (GRCm39) |
S902G |
possibly damaging |
Het |
Slc44a4 |
A |
T |
17: 35,149,201 (GRCm39) |
R705W |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,080,747 (GRCm39) |
I325V |
possibly damaging |
Het |
Syt6 |
T |
G |
3: 103,532,960 (GRCm39) |
L363R |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,544,759 (GRCm39) |
V32781A |
probably benign |
Het |
Ube2l6 |
A |
G |
2: 84,636,852 (GRCm39) |
T99A |
probably damaging |
Het |
Unc13b |
A |
T |
4: 43,177,412 (GRCm39) |
|
probably benign |
Het |
Vmn1r189 |
A |
T |
13: 22,286,066 (GRCm39) |
L257H |
possibly damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Zfpm2 |
T |
C |
15: 40,518,981 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Spns1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00848:Spns1
|
APN |
7 |
125,970,414 (GRCm39) |
splice site |
probably null |
|
IGL02353:Spns1
|
APN |
7 |
125,974,312 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02561:Spns1
|
APN |
7 |
125,972,941 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03403:Spns1
|
APN |
7 |
125,970,708 (GRCm39) |
splice site |
probably null |
|
R1634:Spns1
|
UTSW |
7 |
125,970,343 (GRCm39) |
unclassified |
probably benign |
|
R2327:Spns1
|
UTSW |
7 |
125,969,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R3552:Spns1
|
UTSW |
7 |
125,969,543 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3916:Spns1
|
UTSW |
7 |
125,970,711 (GRCm39) |
critical splice donor site |
probably null |
|
R4025:Spns1
|
UTSW |
7 |
125,976,118 (GRCm39) |
nonsense |
probably null |
|
R4095:Spns1
|
UTSW |
7 |
125,969,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R4656:Spns1
|
UTSW |
7 |
125,973,474 (GRCm39) |
unclassified |
probably benign |
|
R4657:Spns1
|
UTSW |
7 |
125,973,474 (GRCm39) |
unclassified |
probably benign |
|
R4697:Spns1
|
UTSW |
7 |
125,976,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R4758:Spns1
|
UTSW |
7 |
125,969,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R5062:Spns1
|
UTSW |
7 |
125,973,501 (GRCm39) |
unclassified |
probably benign |
|
R5371:Spns1
|
UTSW |
7 |
125,972,936 (GRCm39) |
unclassified |
probably benign |
|
R5700:Spns1
|
UTSW |
7 |
125,971,641 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5973:Spns1
|
UTSW |
7 |
125,969,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R5985:Spns1
|
UTSW |
7 |
125,975,902 (GRCm39) |
missense |
probably benign |
0.37 |
R7175:Spns1
|
UTSW |
7 |
125,972,961 (GRCm39) |
missense |
probably damaging |
0.98 |
R7937:Spns1
|
UTSW |
7 |
125,973,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R8051:Spns1
|
UTSW |
7 |
125,971,708 (GRCm39) |
missense |
probably benign |
0.37 |
R8815:Spns1
|
UTSW |
7 |
125,971,593 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8816:Spns1
|
UTSW |
7 |
125,971,593 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8835:Spns1
|
UTSW |
7 |
125,971,593 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8836:Spns1
|
UTSW |
7 |
125,971,593 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8837:Spns1
|
UTSW |
7 |
125,971,593 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9311:Spns1
|
UTSW |
7 |
125,972,995 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Spns1
|
UTSW |
7 |
125,971,583 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Spns1
|
UTSW |
7 |
125,971,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCACAGAGATCAGAGGG -3'
(R):5'- GCAAATCGCTGGTTAGGCAG -3'
Sequencing Primer
(F):5'- AGGAAAACCCGTGTGCC -3'
(R):5'- TTGCTGAGGGACCTGGAC -3'
|
Posted On |
2018-07-23 |