Incidental Mutation 'IGL00848:Spns1'
| ID |
14223 |
| 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 # |
IGL00848
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 125970414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032994]
[ENSMUST00000032997]
[ENSMUST00000119754]
[ENSMUST00000119846]
[ENSMUST00000138141]
[ENSMUST00000205642]
[ENSMUST00000205930]
[ENSMUST00000205366]
[ENSMUST00000206793]
[ENSMUST00000150476]
|
| AlphaFold |
Q8R0G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032994
AA Change: E419G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000032994
Gene: ENSMUSG00000030741
AA Change: E419G
| 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: ENSMUST00000032997
|
| SMART Domains |
Protein: ENSMUSP00000032997
Gene: ENSMUSG00000030742
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LAT
|
1 |
242 |
4.3e-121 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119754
AA Change: E419G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000112555
Gene: ENSMUSG00000030741
AA Change: E419G
| 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 benign
Transcript: ENSMUST00000119846
AA Change: E367G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112954
Gene: ENSMUSG00000030741
AA Change: E367G
| 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: ENSMUST00000150748
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184637
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205366
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205398
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,370,237 (GRCm39) |
F508L |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,159,291 (GRCm39) |
G320R |
probably damaging |
Het |
| Arhgef40 |
G |
A |
14: 52,224,884 (GRCm39) |
V10M |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 75,003,388 (GRCm39) |
Q4739* |
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,848,453 (GRCm39) |
E869G |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,861,981 (GRCm39) |
H54Y |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,362,886 (GRCm39) |
D202G |
probably damaging |
Het |
| Cfhr2 |
T |
A |
1: 139,758,970 (GRCm39) |
T27S |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,938,255 (GRCm39) |
C523S |
possibly damaging |
Het |
| Copz1 |
T |
A |
15: 103,207,176 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
A |
C |
10: 43,843,814 (GRCm39) |
|
probably null |
Het |
| Cyp3a11 |
A |
T |
5: 145,799,275 (GRCm39) |
I304N |
probably damaging |
Het |
| Eif2d |
C |
T |
1: 131,092,173 (GRCm39) |
Q315* |
probably null |
Het |
| Fgfr4 |
A |
G |
13: 55,306,983 (GRCm39) |
E224G |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,505,658 (GRCm39) |
L870Q |
probably damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,497,999 (GRCm39) |
|
probably null |
Het |
| Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,230,204 (GRCm39) |
K147N |
unknown |
Het |
| Kbtbd3 |
T |
A |
9: 4,331,184 (GRCm39) |
S519R |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,976,624 (GRCm39) |
I221T |
probably benign |
Het |
| Khdrbs2 |
C |
T |
1: 32,511,833 (GRCm39) |
A266V |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,113,216 (GRCm39) |
E1312G |
probably benign |
Het |
| Mos |
T |
C |
4: 3,871,459 (GRCm39) |
N119S |
probably damaging |
Het |
| Mtpap |
C |
T |
18: 4,380,717 (GRCm39) |
H132Y |
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,019,351 (GRCm39) |
T642I |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,463 (GRCm39) |
E1303G |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,888,191 (GRCm39) |
M86K |
probably benign |
Het |
| Nvl |
T |
A |
1: 180,932,690 (GRCm39) |
D709V |
probably damaging |
Het |
| Pak1ip1 |
A |
T |
13: 41,166,099 (GRCm39) |
E341D |
probably benign |
Het |
| Pgghg |
G |
A |
7: 140,522,317 (GRCm39) |
G32D |
probably damaging |
Het |
| Phlpp1 |
G |
A |
1: 106,303,985 (GRCm39) |
R1096H |
probably damaging |
Het |
| Phlpp1 |
C |
T |
1: 106,267,178 (GRCm39) |
T697M |
probably damaging |
Het |
| Piwil4 |
T |
G |
9: 14,638,707 (GRCm39) |
T273P |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,180,718 (GRCm39) |
|
probably benign |
Het |
| Polr3b |
A |
G |
10: 84,516,241 (GRCm39) |
D623G |
probably damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,875 (GRCm39) |
T317A |
probably benign |
Het |
| Prune2 |
A |
T |
19: 17,096,482 (GRCm39) |
K662I |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,264,589 (GRCm39) |
I356V |
probably benign |
Het |
| Rhbdd1 |
T |
C |
1: 82,318,165 (GRCm39) |
L16P |
possibly damaging |
Het |
| Rps11 |
C |
T |
7: 44,772,925 (GRCm39) |
R22Q |
probably benign |
Het |
| Sfxn2 |
A |
T |
19: 46,578,596 (GRCm39) |
I204F |
probably damaging |
Het |
| Slc26a9 |
C |
T |
1: 131,685,266 (GRCm39) |
S365F |
probably damaging |
Het |
| Slc47a2 |
C |
T |
11: 61,193,059 (GRCm39) |
V565M |
probably benign |
Het |
| Stk3 |
T |
A |
15: 35,114,768 (GRCm39) |
E48V |
possibly damaging |
Het |
| Svs3b |
T |
C |
2: 164,098,021 (GRCm39) |
E100G |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,952,942 (GRCm39) |
Q1464R |
probably benign |
Het |
| Tspan10 |
T |
C |
11: 120,335,096 (GRCm39) |
S69P |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,942,007 (GRCm39) |
|
probably benign |
Het |
| Vps45 |
G |
T |
3: 95,964,285 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,343,208 (GRCm39) |
N1790K |
probably damaging |
Het |
| Zfp704 |
A |
T |
3: 9,630,299 (GRCm39) |
S21T |
possibly damaging |
Het |
|
| Other mutations in Spns1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation