Incidental Mutation 'R3916:Spns1'
| ID |
309740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spns1
|
| Ensembl Gene |
ENSMUSG00000030741 |
| Gene Name |
SPNS lysolipid transporter 1, lysophospholipid |
| Synonyms |
2210013K02Rik, spinster homolog |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3916 (G1)
|
| Quality Score |
225 |
|
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 T
at 125970711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032994]
[ENSMUST00000032994]
[ENSMUST00000032997]
[ENSMUST00000119754]
[ENSMUST00000119754]
[ENSMUST00000119846]
[ENSMUST00000119846]
[ENSMUST00000138141]
[ENSMUST00000205642]
[ENSMUST00000206793]
[ENSMUST00000205930]
[ENSMUST00000205366]
[ENSMUST00000150476]
|
| 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: 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 benign
Transcript: ENSMUST00000032997
|
| SMART Domains |
Protein: ENSMUSP00000032997
Gene: ENSMUSG00000030742
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LAT
|
1 |
242 |
4.3e-121 |
PFAM |
|
| 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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000205398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150748
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206793
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205366
|
| Predicted Effect |
probably benign
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
G |
2: 68,562,329 (GRCm39) |
F319V |
possibly damaging |
Het |
| Acad12 |
A |
G |
5: 121,737,277 (GRCm39) |
V498A |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 45,951,762 (GRCm39) |
E37G |
probably benign |
Het |
| Anks3 |
A |
G |
16: 4,765,143 (GRCm39) |
Y423H |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,668 (GRCm39) |
V600D |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,504,197 (GRCm39) |
F939L |
probably benign |
Het |
| Arhgef2 |
A |
G |
3: 88,540,340 (GRCm39) |
N127S |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,392,928 (GRCm39) |
S2100G |
probably benign |
Het |
| Atp1b2 |
A |
G |
11: 69,493,901 (GRCm39) |
V93A |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,924,084 (GRCm39) |
V1283A |
possibly damaging |
Het |
| Bpifb5 |
A |
C |
2: 154,070,101 (GRCm39) |
K184Q |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Cant1 |
A |
G |
11: 118,299,572 (GRCm39) |
V259A |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,076,033 (GRCm39) |
D81G |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
C |
G |
8: 113,602,165 (GRCm39) |
P1190A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,384,362 (GRCm39) |
Y567* |
probably null |
Het |
| Cyp4f18 |
A |
T |
8: 72,749,881 (GRCm39) |
F256Y |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,186 (GRCm39) |
R1462H |
probably damaging |
Het |
| Dync1i2 |
A |
G |
2: 71,079,716 (GRCm39) |
T377A |
probably damaging |
Het |
| F2 |
G |
A |
2: 91,455,833 (GRCm39) |
T600M |
probably damaging |
Het |
| Fam91a1 |
C |
T |
15: 58,302,583 (GRCm39) |
H308Y |
probably damaging |
Het |
| Fkbp2 |
C |
A |
19: 6,955,925 (GRCm39) |
|
probably null |
Het |
| Gabarapl2 |
T |
A |
8: 112,679,028 (GRCm39) |
F115L |
probably benign |
Het |
| Heatr3 |
T |
G |
8: 88,876,999 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
T |
G |
1: 173,583,341 (GRCm39) |
K292N |
possibly damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,728 (GRCm39) |
I62N |
probably benign |
Het |
| Kcnab1 |
G |
A |
3: 65,211,585 (GRCm39) |
|
probably null |
Het |
| Krt88 |
G |
A |
15: 101,350,809 (GRCm39) |
|
probably null |
Het |
| Larp4 |
C |
T |
15: 99,888,284 (GRCm39) |
T107I |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,166,778 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,346,344 (GRCm39) |
Y3174C |
possibly damaging |
Het |
| Lyzl4 |
T |
A |
9: 121,412,101 (GRCm39) |
D105V |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,961,494 (GRCm39) |
I575V |
probably benign |
Het |
| Myh7 |
C |
A |
14: 55,211,503 (GRCm39) |
E1555D |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,394,439 (GRCm39) |
C608* |
probably null |
Het |
| Obox3 |
C |
A |
7: 15,361,151 (GRCm39) |
C38F |
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,017,074 (GRCm39) |
D441G |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,598 (GRCm39) |
I235F |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,167,296 (GRCm39) |
V259A |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,107,957 (GRCm39) |
T1590A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 142,036,999 (GRCm39) |
D817E |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,477,657 (GRCm39) |
F482S |
probably damaging |
Het |
| Slc35a5 |
G |
C |
16: 44,978,521 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,710,427 (GRCm39) |
I346V |
probably benign |
Het |
| Slu7 |
G |
T |
11: 43,331,511 (GRCm39) |
|
probably null |
Het |
| Supv3l1 |
T |
C |
10: 62,285,199 (GRCm39) |
D89G |
possibly damaging |
Het |
| Taf1c |
G |
A |
8: 120,327,244 (GRCm39) |
R412W |
probably damaging |
Het |
| Tctn3 |
T |
A |
19: 40,596,093 (GRCm39) |
T305S |
possibly damaging |
Het |
| Tekt1 |
A |
G |
11: 72,236,574 (GRCm39) |
I296T |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,191,816 (GRCm39) |
K873E |
possibly damaging |
Het |
| Thada |
G |
A |
17: 84,749,210 (GRCm39) |
A587V |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,782,884 (GRCm39) |
N712Y |
probably damaging |
Het |
| Tnks |
A |
G |
8: 35,320,515 (GRCm39) |
S719P |
probably damaging |
Het |
| Tnrc6a |
A |
C |
7: 122,780,607 (GRCm39) |
Q1332H |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,174,560 (GRCm39) |
D309G |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,643,547 (GRCm39) |
K221E |
possibly damaging |
Het |
| Uba5 |
A |
T |
9: 103,931,389 (GRCm39) |
C227S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,716,654 (GRCm39) |
C2925R |
probably benign |
Het |
| Vmn2r83 |
G |
A |
10: 79,314,744 (GRCm39) |
G331R |
probably benign |
Het |
| Xirp2 |
G |
T |
2: 67,341,766 (GRCm39) |
V1336F |
probably benign |
Het |
| Zbed5 |
T |
C |
5: 129,931,118 (GRCm39) |
Y356H |
possibly damaging |
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 |
|
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 |
|
R6660:Spns1
|
UTSW |
7 |
125,974,237 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TTTCACTCAGGTTAAGGGCTG -3'
(R):5'- AACGTCATGTGCAGGGTCAG -3'
Sequencing Primer
(F):5'- CTCAGGTTAAGGGCTGGCAGAC -3'
(R):5'- GGTGGAATGCCTCCTTTCAAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation