Incidental Mutation 'IGL02561:Spns1'
| ID |
298682 |
| 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 # |
IGL02561
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 125972941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032994]
[ENSMUST00000032997]
[ENSMUST00000119754]
[ENSMUST00000119846]
[ENSMUST00000138141]
[ENSMUST00000205366]
[ENSMUST00000205930]
[ENSMUST00000150476]
[ENSMUST00000205642]
[ENSMUST00000206793]
|
| 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 |
probably benign
Transcript: ENSMUST00000205366
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205930
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000152000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206731
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205398
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,125,536 (GRCm39) |
Q49L |
probably benign |
Het |
| Aifm2 |
A |
G |
10: 61,561,786 (GRCm39) |
D44G |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,228,366 (GRCm39) |
T2241A |
probably benign |
Het |
| Cntn4 |
C |
T |
6: 106,500,470 (GRCm39) |
P316S |
probably damaging |
Het |
| Ctnna2 |
G |
T |
6: 77,822,563 (GRCm39) |
S13R |
probably benign |
Het |
| Cyb5a |
G |
A |
18: 84,889,637 (GRCm39) |
G46D |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 71,993,290 (GRCm39) |
V353A |
unknown |
Het |
| Ddx6 |
C |
T |
9: 44,545,465 (GRCm39) |
T417I |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,800,599 (GRCm39) |
|
probably benign |
Het |
| Gdi2 |
T |
C |
13: 3,598,954 (GRCm39) |
I46T |
possibly damaging |
Het |
| Gm3629 |
T |
C |
14: 17,805,586 (GRCm39) |
|
probably benign |
Het |
| Grap2 |
A |
T |
15: 80,532,049 (GRCm39) |
|
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,874,629 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
A |
T |
12: 91,542,527 (GRCm39) |
D57E |
possibly damaging |
Het |
| Hif1a |
A |
G |
12: 73,988,980 (GRCm39) |
I622M |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,685,477 (GRCm39) |
T328A |
probably benign |
Het |
| Ighv1-54 |
T |
C |
12: 115,157,389 (GRCm39) |
K86R |
probably benign |
Het |
| Igkv4-55 |
C |
T |
6: 69,584,360 (GRCm39) |
S84N |
probably damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,978 (GRCm39) |
S167P |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,725,259 (GRCm39) |
I252V |
possibly damaging |
Het |
| Lss |
T |
C |
10: 76,376,264 (GRCm39) |
|
probably benign |
Het |
| Mlip |
C |
A |
9: 77,088,633 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
C |
T |
4: 46,159,711 (GRCm39) |
T408M |
possibly damaging |
Het |
| Notch4 |
A |
G |
17: 34,787,134 (GRCm39) |
|
probably benign |
Het |
| Npepps |
A |
T |
11: 97,120,675 (GRCm39) |
C528* |
probably null |
Het |
| Nxf2 |
T |
C |
X: 133,857,201 (GRCm39) |
T163A |
probably benign |
Het |
| Or4c119 |
T |
C |
2: 88,987,485 (GRCm39) |
I11M |
possibly damaging |
Het |
| Phka1 |
A |
T |
X: 101,641,895 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,338,387 (GRCm39) |
S343P |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,693,582 (GRCm39) |
D1262G |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ttpal |
A |
G |
2: 163,449,369 (GRCm39) |
T75A |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,301,652 (GRCm39) |
T359A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,715,957 (GRCm39) |
K360* |
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 |
|
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