Incidental Mutation 'R5371:Spns1'
| ID |
428731 |
| 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 # |
R5371 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 125972936 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]
[ENSMUST00000205366]
[ENSMUST00000205930]
[ENSMUST00000150476]
[ENSMUST00000206793]
[ENSMUST00000205642]
|
| AlphaFold |
Q8R0G7 |
| Predicted Effect |
probably benign
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 benign
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 benign
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: ENSMUST00000150748
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205930
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205398
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206793
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206731
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
96% (71/74) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutation results in lethality before weaning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
T |
7: 29,261,918 (GRCm39) |
|
noncoding transcript |
Het |
| Arpp21 |
G |
A |
9: 111,895,000 (GRCm39) |
P755S |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,398,279 (GRCm39) |
Q982* |
probably null |
Het |
| Atp5f1e |
C |
T |
2: 174,304,319 (GRCm39) |
|
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,004,886 (GRCm39) |
*598Q |
probably null |
Het |
| Bcl6 |
T |
A |
16: 23,788,736 (GRCm39) |
D544V |
possibly damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,014,655 (GRCm39) |
D195E |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,026,225 (GRCm39) |
N3S |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,212,097 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
C |
8: 110,948,044 (GRCm39) |
F118S |
probably damaging |
Het |
| Cyp7a1 |
A |
G |
4: 6,268,378 (GRCm39) |
F449S |
probably damaging |
Het |
| Dnah10 |
C |
T |
5: 124,820,693 (GRCm39) |
A509V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,378,865 (GRCm39) |
Q1271L |
probably damaging |
Het |
| Edar |
A |
C |
10: 58,443,274 (GRCm39) |
V284G |
possibly damaging |
Het |
| Fdft1 |
A |
G |
14: 63,388,750 (GRCm39) |
V294A |
probably damaging |
Het |
| Gba1 |
T |
A |
3: 89,112,778 (GRCm39) |
V140E |
probably benign |
Het |
| Gm12185 |
A |
T |
11: 48,806,566 (GRCm39) |
S208R |
probably benign |
Het |
| Gm21028 |
C |
A |
7: 42,227,946 (GRCm39) |
E23* |
probably null |
Het |
| Gm6871 |
A |
G |
7: 41,222,992 (GRCm39) |
L32P |
probably benign |
Het |
| Hhip |
C |
T |
8: 80,724,220 (GRCm39) |
V341M |
probably damaging |
Het |
| Kcnq2 |
C |
A |
2: 180,776,813 (GRCm39) |
V25L |
probably damaging |
Het |
| Krit1 |
C |
A |
5: 3,881,551 (GRCm39) |
H548N |
probably damaging |
Het |
| Kynu |
C |
T |
2: 43,479,406 (GRCm39) |
A100V |
probably benign |
Het |
| Lpp |
T |
C |
16: 24,708,554 (GRCm39) |
C295R |
probably damaging |
Het |
| Mdp1 |
A |
G |
14: 55,897,806 (GRCm39) |
V9A |
probably damaging |
Het |
| Mllt3 |
T |
C |
4: 87,759,093 (GRCm39) |
I318M |
possibly damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,966,510 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mup8 |
A |
G |
4: 60,222,423 (GRCm39) |
V16A |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,235,616 (GRCm39) |
|
probably null |
Het |
| Myh4 |
A |
T |
11: 67,150,150 (GRCm39) |
Q1869L |
probably damaging |
Het |
| Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
| Olfr908 |
CACAACAACA |
CACAACA |
9: 38,427,434 (GRCm39) |
|
probably benign |
Het |
| Or13c7b |
A |
T |
4: 43,821,058 (GRCm39) |
M101K |
probably damaging |
Het |
| Or51h7 |
T |
A |
7: 102,591,719 (GRCm39) |
M22L |
probably benign |
Het |
| Or5d43 |
C |
A |
2: 88,104,976 (GRCm39) |
C139F |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,447,755 (GRCm39) |
F30L |
probably damaging |
Het |
| Pcdhgc3 |
A |
T |
18: 37,941,507 (GRCm39) |
D636V |
possibly damaging |
Het |
| Ppp1cb |
T |
C |
5: 32,643,332 (GRCm39) |
F234L |
probably damaging |
Het |
| Rras2 |
A |
T |
7: 113,649,572 (GRCm39) |
V164E |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
T |
C |
9: 75,568,583 (GRCm39) |
T390A |
probably damaging |
Het |
| Shh |
C |
A |
5: 28,671,688 (GRCm39) |
C25F |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,856,550 (GRCm39) |
K119R |
unknown |
Het |
| Speg |
G |
T |
1: 75,408,037 (GRCm39) |
R3244L |
possibly damaging |
Het |
| Sptbn4 |
A |
C |
7: 27,059,166 (GRCm39) |
|
probably null |
Het |
| Stap1 |
T |
A |
5: 86,244,375 (GRCm39) |
F214Y |
possibly damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,652,600 (GRCm39) |
M76K |
unknown |
Het |
| Tjp1 |
A |
T |
7: 64,963,059 (GRCm39) |
Y959* |
probably null |
Het |
| Tmprss11e |
A |
T |
5: 86,875,225 (GRCm39) |
C14S |
probably benign |
Het |
| Tnfrsf14 |
T |
C |
4: 155,006,934 (GRCm39) |
|
probably null |
Het |
| Tsfm |
A |
C |
10: 126,847,512 (GRCm39) |
V193G |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,378,371 (GRCm39) |
Y153F |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,175,267 (GRCm39) |
I1122L |
probably benign |
Het |
| Vmn1r74 |
T |
A |
7: 11,580,984 (GRCm39) |
S95T |
probably damaging |
Het |
| Vmn2r98 |
G |
A |
17: 19,290,015 (GRCm39) |
C517Y |
probably damaging |
Het |
| Vstm2b |
G |
A |
7: 40,550,702 (GRCm39) |
S99N |
possibly damaging |
Het |
| Zbtb24 |
A |
G |
10: 41,327,537 (GRCm39) |
N141S |
probably benign |
Het |
| Zcchc4 |
T |
G |
5: 52,942,512 (GRCm39) |
C106G |
probably benign |
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 |
|
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 |
|
|
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'- AGCCAGATGATCCAAGTTCC -3'
(R):5'- GGAGTCGGATGCTCAGTATCTTC -3'
Sequencing Primer
(F):5'- GATGATCCAAGTTCCATCTCCAGG -3'
(R):5'- GGATGCTCAGTATCTTCTACTTTGC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation