Incidental Mutation 'IGL02353:Spns1'
| ID |
289580 |
| 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 # |
IGL02353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125974312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 94
(R94Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032994]
[ENSMUST00000119754]
[ENSMUST00000119846]
[ENSMUST00000138141]
[ENSMUST00000150476]
[ENSMUST00000205930]
[ENSMUST00000205366]
|
| AlphaFold |
Q8R0G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032994
AA Change: R124Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032994
Gene: ENSMUSG00000030741
AA Change: R124Q
| 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 damaging
Transcript: ENSMUST00000119754
AA Change: R124Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112555
Gene: ENSMUSG00000030741
AA Change: R124Q
| 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 damaging
Transcript: ENSMUST00000119846
AA Change: R124Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112954
Gene: ENSMUSG00000030741
AA Change: R124Q
| 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 damaging
Transcript: ENSMUST00000138141
AA Change: R124Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117803
Gene: ENSMUSG00000030741
AA Change: R124Q
| 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 damaging
Transcript: ENSMUST00000150476
AA Change: R94Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115152
Gene: ENSMUSG00000030741
AA Change: R94Q
| 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 damaging
Transcript: ENSMUST00000205930
AA Change: R108Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205366
AA Change: R124Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150748
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
T |
19: 40,566,364 (GRCm39) |
V102D |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Casp6 |
C |
T |
3: 129,704,175 (GRCm39) |
S87L |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,190 (GRCm39) |
E254G |
possibly damaging |
Het |
| Ccnl1 |
A |
C |
3: 65,856,141 (GRCm39) |
C255G |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,619,955 (GRCm39) |
I485M |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,087 (GRCm39) |
R769G |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,387 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,824,324 (GRCm39) |
E1068G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,433,684 (GRCm39) |
N607S |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,279,909 (GRCm39) |
I383V |
probably damaging |
Het |
| Fgd6 |
C |
T |
10: 93,974,258 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Got1 |
A |
G |
19: 43,512,882 (GRCm39) |
S5P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,764,560 (GRCm39) |
N995K |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,641,681 (GRCm39) |
F159S |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,383,339 (GRCm39) |
S456G |
probably benign |
Het |
| Lhb |
T |
C |
7: 45,070,718 (GRCm39) |
V32A |
possibly damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,288 (GRCm39) |
V602E |
probably damaging |
Het |
| Mpst |
C |
T |
15: 78,294,285 (GRCm39) |
L6F |
probably damaging |
Het |
| Nlrp2 |
G |
A |
7: 5,340,598 (GRCm39) |
T72I |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,444 (GRCm39) |
I32T |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,569,142 (GRCm39) |
Y1239C |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,619 (GRCm39) |
F328S |
possibly damaging |
Het |
| Sult2a3 |
G |
A |
7: 13,855,575 (GRCm39) |
R94* |
probably null |
Het |
| Syt16 |
A |
G |
12: 74,176,245 (GRCm39) |
N38S |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,414,179 (GRCm39) |
R180Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,460,635 (GRCm39) |
I2632T |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,909,543 (GRCm39) |
I595F |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation