Incidental Mutation 'IGL03403:Spns1'
| ID |
421515 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 125970708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032994]
[ENSMUST00000032997]
[ENSMUST00000119754]
[ENSMUST00000119846]
[ENSMUST00000138141]
[ENSMUST00000205366]
[ENSMUST00000206793]
[ENSMUST00000205930]
[ENSMUST00000205642]
[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 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: 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 |
noncoding transcript
Transcript: ENSMUST00000206731
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206793
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205642
|
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
A |
15: 11,241,574 (GRCm39) |
I382N |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,659,902 (GRCm39) |
T797A |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,554,325 (GRCm39) |
V598E |
possibly damaging |
Het |
| Akap10 |
A |
G |
11: 61,806,099 (GRCm39) |
S210P |
probably benign |
Het |
| Asb5 |
G |
T |
8: 55,036,582 (GRCm39) |
|
probably benign |
Het |
| AU041133 |
T |
C |
10: 81,974,178 (GRCm39) |
V31A |
probably damaging |
Het |
| Bcar3 |
T |
C |
3: 122,306,618 (GRCm39) |
V197A |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,990,559 (GRCm39) |
V510A |
possibly damaging |
Het |
| Ccar2 |
A |
T |
14: 70,377,517 (GRCm39) |
D712E |
probably damaging |
Het |
| Cenpt |
G |
A |
8: 106,576,297 (GRCm39) |
Q85* |
probably null |
Het |
| Ciita |
C |
A |
16: 10,321,736 (GRCm39) |
H98N |
probably damaging |
Het |
| Cplane1 |
A |
C |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
| Csn1s1 |
T |
A |
5: 87,815,152 (GRCm39) |
M16K |
probably benign |
Het |
| Fah |
A |
G |
7: 84,242,417 (GRCm39) |
I297T |
probably damaging |
Het |
| Fbxo25 |
A |
G |
8: 13,979,423 (GRCm39) |
N214D |
probably benign |
Het |
| Frem3 |
A |
C |
8: 81,337,719 (GRCm39) |
D4A |
probably benign |
Het |
| Gm3409 |
A |
G |
5: 146,476,334 (GRCm39) |
K162E |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,159,656 (GRCm39) |
D148G |
possibly damaging |
Het |
| Hoxd4 |
A |
T |
2: 74,558,681 (GRCm39) |
E168V |
possibly damaging |
Het |
| Ifna6 |
A |
G |
4: 88,745,695 (GRCm39) |
S15G |
possibly damaging |
Het |
| Iqck |
T |
A |
7: 118,475,494 (GRCm39) |
H97Q |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,553,789 (GRCm39) |
E1003V |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 40,592,836 (GRCm39) |
P3761L |
probably benign |
Het |
| Mc4r |
C |
T |
18: 66,992,597 (GRCm39) |
C172Y |
possibly damaging |
Het |
| Oosp1 |
T |
A |
19: 11,664,744 (GRCm39) |
N104I |
probably damaging |
Het |
| Or2z9 |
A |
G |
8: 72,854,341 (GRCm39) |
T246A |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,861,117 (GRCm39) |
I513F |
probably damaging |
Het |
| Pramel18 |
T |
C |
4: 101,767,125 (GRCm39) |
S125P |
probably benign |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,729,333 (GRCm39) |
D144G |
possibly damaging |
Het |
| Rreb1 |
A |
C |
13: 38,113,550 (GRCm39) |
N303T |
possibly damaging |
Het |
| Rrn3 |
A |
T |
16: 13,617,809 (GRCm39) |
K351* |
probably null |
Het |
| Sox30 |
A |
T |
11: 45,908,035 (GRCm39) |
E734V |
probably damaging |
Het |
| Tgfbr2 |
T |
A |
9: 115,939,370 (GRCm39) |
E177D |
probably benign |
Het |
| Tnfaip8l3 |
A |
G |
9: 53,934,741 (GRCm39) |
M78T |
possibly damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,387,114 (GRCm39) |
T151I |
probably damaging |
Het |
| Wwc1 |
A |
G |
11: 35,806,111 (GRCm39) |
Y41H |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,578,922 (GRCm39) |
N730K |
probably 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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation