Incidental Mutation 'R1634:Spns1'
ID |
172984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spns1
|
Ensembl Gene |
ENSMUSG00000030741 |
Gene Name |
SPNS lysolipid transporter 1, lysophospholipid |
Synonyms |
2210013K02Rik, spinster homolog |
MMRRC Submission |
039671-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1634 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 125970343 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]
[ENSMUST00000205930]
[ENSMUST00000206793]
[ENSMUST00000205366]
[ENSMUST00000205642]
[ENSMUST00000150476]
|
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: ENSMUST00000206731
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184637
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152000
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206793
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205366
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205398
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205642
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150748
|
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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.4%
|
Validation Efficiency |
97% (67/69) |
MGI Phenotype |
PHENOTYPE: Homozygous mutation results in lethality before weaning. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
T |
14: 66,295,180 (GRCm39) |
F222I |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,105,127 (GRCm39) |
C173S |
possibly damaging |
Het |
Ahi1 |
T |
C |
10: 20,841,592 (GRCm39) |
V293A |
probably damaging |
Het |
AI182371 |
A |
T |
2: 34,976,497 (GRCm39) |
Y223N |
probably damaging |
Het |
Asmt |
C |
A |
X: 169,109,564 (GRCm39) |
F181L |
probably damaging |
Het |
Axin1 |
T |
A |
17: 26,406,965 (GRCm39) |
H519Q |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,715,632 (GRCm39) |
V660E |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,425,809 (GRCm39) |
R852H |
probably benign |
Het |
Cpne4 |
T |
C |
9: 104,866,778 (GRCm39) |
V230A |
possibly damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,408,656 (GRCm39) |
N988K |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,051,556 (GRCm39) |
I767T |
probably damaging |
Het |
Dgki |
A |
G |
6: 36,892,425 (GRCm39) |
M851T |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,932,072 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
A |
G |
9: 45,584,047 (GRCm39) |
E504G |
probably damaging |
Het |
Dzank1 |
G |
A |
2: 144,323,589 (GRCm39) |
A618V |
probably benign |
Het |
Entrep3 |
A |
C |
3: 89,095,401 (GRCm39) |
Y511S |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,158,510 (GRCm39) |
S3403C |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,175,545 (GRCm39) |
V1723I |
probably benign |
Het |
Flt1 |
A |
T |
5: 147,613,240 (GRCm39) |
F334I |
probably damaging |
Het |
Galnt12 |
G |
T |
4: 47,108,585 (GRCm39) |
|
probably null |
Het |
Gzmc |
T |
C |
14: 56,469,737 (GRCm39) |
I188V |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,380,820 (GRCm39) |
S3566P |
possibly damaging |
Het |
Hoxb4 |
C |
A |
11: 96,211,099 (GRCm39) |
|
probably benign |
Het |
Idh3b |
C |
T |
2: 130,123,665 (GRCm39) |
V141I |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,393,529 (GRCm39) |
S1249P |
probably benign |
Het |
Leo1 |
T |
C |
9: 75,373,542 (GRCm39) |
Y656H |
possibly damaging |
Het |
Map3k20 |
G |
A |
2: 72,240,521 (GRCm39) |
W339* |
probably null |
Het |
Map3k5 |
T |
C |
10: 20,012,657 (GRCm39) |
V1259A |
possibly damaging |
Het |
Masp2 |
A |
G |
4: 148,698,812 (GRCm39) |
D631G |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,499,706 (GRCm39) |
S713P |
probably benign |
Het |
Mpp7 |
A |
T |
18: 7,350,984 (GRCm39) |
V571E |
possibly damaging |
Het |
Nell1 |
A |
G |
7: 50,498,306 (GRCm39) |
D574G |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,967,722 (GRCm39) |
Y392C |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,286,688 (GRCm39) |
L181P |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,231 (GRCm39) |
Y649F |
probably benign |
Het |
Or1f19 |
A |
G |
16: 3,411,073 (GRCm39) |
D271G |
probably benign |
Het |
Or4k45 |
T |
C |
2: 111,395,691 (GRCm39) |
M33V |
probably benign |
Het |
Prkcg |
A |
G |
7: 3,371,986 (GRCm39) |
D484G |
probably damaging |
Het |
Rab27a |
T |
C |
9: 72,982,851 (GRCm39) |
|
probably null |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rgl1 |
C |
T |
1: 152,400,523 (GRCm39) |
R624H |
probably damaging |
Het |
Ric8b |
G |
A |
10: 84,806,612 (GRCm39) |
G159D |
probably damaging |
Het |
Sbno2 |
C |
A |
10: 79,896,468 (GRCm39) |
A880S |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,318,361 (GRCm39) |
S1477P |
probably damaging |
Het |
Sec22a |
T |
C |
16: 35,139,243 (GRCm39) |
|
probably benign |
Het |
Snx14 |
T |
C |
9: 88,267,792 (GRCm39) |
I714M |
probably benign |
Het |
Snx14 |
T |
C |
9: 88,289,543 (GRCm39) |
|
probably benign |
Het |
Sphk2 |
T |
A |
7: 45,360,964 (GRCm39) |
T347S |
probably benign |
Het |
Susd2 |
A |
G |
10: 75,473,389 (GRCm39) |
V675A |
probably benign |
Het |
Sytl2 |
A |
T |
7: 90,044,390 (GRCm39) |
D566V |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,123,830 (GRCm39) |
I464N |
possibly damaging |
Het |
Tex261 |
A |
T |
6: 83,752,004 (GRCm39) |
I49N |
possibly damaging |
Het |
Tjp1 |
A |
G |
7: 64,952,700 (GRCm39) |
F1545L |
possibly damaging |
Het |
Tmem176b |
A |
G |
6: 48,811,500 (GRCm39) |
S216P |
probably damaging |
Het |
Topaz1 |
C |
T |
9: 122,609,740 (GRCm39) |
|
probably benign |
Het |
Tra2a |
C |
T |
6: 49,227,891 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,553,126 (GRCm39) |
F22794S |
possibly damaging |
Het |
Uox |
G |
A |
3: 146,318,138 (GRCm39) |
W93* |
probably null |
Het |
Zan |
A |
T |
5: 137,411,052 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,364,158 (GRCm39) |
R750* |
probably null |
Het |
Zfp638 |
A |
T |
6: 83,956,894 (GRCm39) |
|
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATAGGGTGAGACCCACAGCCTAAC -3'
(R):5'- GGAGTCTGGCTTTTCCCCTTCAAAC -3'
Sequencing Primer
(F):5'- TAACGGGCAAAACCTTCCTATG -3'
(R):5'- CCTGAGTGAAAATTTGTCATGGACC -3'
|
Posted On |
2014-04-24 |