Incidental Mutation 'R4095:Spns1'
ID |
317857 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spns1
|
Ensembl Gene |
ENSMUSG00000030741 |
Gene Name |
SPNS lysolipid transporter 1, lysophospholipid |
Synonyms |
2210013K02Rik, spinster homolog |
MMRRC Submission |
040858-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4095 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125969958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 481
(T481A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032994]
[ENSMUST00000032997]
[ENSMUST00000119754]
[ENSMUST00000119846]
[ENSMUST00000205930]
[ENSMUST00000205366]
[ENSMUST00000206793]
[ENSMUST00000205642]
[ENSMUST00000150476]
[ENSMUST00000138141]
|
AlphaFold |
Q8R0G7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032994
AA Change: T481A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000032994 Gene: ENSMUSG00000030741 AA Change: T481A
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
AA Change: T429A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112954 Gene: ENSMUSG00000030741 AA Change: T429A
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 |
possibly damaging
Transcript: ENSMUST00000205930
AA Change: T246A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150748
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205398
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152000
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205366
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205642
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184637
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206731
|
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 |
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 |
|
Meta Mutation Damage Score |
0.1192 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
97% (59/61) |
MGI Phenotype |
PHENOTYPE: Homozygous mutation results in lethality before weaning. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
A |
T |
12: 53,186,245 (GRCm39) |
I1220L |
probably damaging |
Het |
Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
Apba1 |
A |
T |
19: 23,921,388 (GRCm39) |
Q737L |
probably benign |
Het |
Arvcf |
T |
A |
16: 18,220,327 (GRCm39) |
D564E |
probably damaging |
Het |
Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
Brd9 |
G |
A |
13: 74,092,918 (GRCm39) |
V302I |
probably benign |
Het |
Brinp3 |
C |
A |
1: 146,777,430 (GRCm39) |
H626N |
possibly damaging |
Het |
C1qc |
T |
C |
4: 136,617,637 (GRCm39) |
N153S |
probably benign |
Het |
Casp3 |
G |
A |
8: 47,087,251 (GRCm39) |
G66D |
probably damaging |
Het |
Coq7 |
T |
G |
7: 118,126,701 (GRCm39) |
|
probably null |
Het |
Dach1 |
C |
T |
14: 98,138,815 (GRCm39) |
V491M |
possibly damaging |
Het |
Dda1 |
A |
G |
8: 71,926,436 (GRCm39) |
T52A |
possibly damaging |
Het |
Entpd7 |
A |
G |
19: 43,692,640 (GRCm39) |
Y65C |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 52,991,535 (GRCm39) |
D350G |
probably damaging |
Het |
Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
Gbp2 |
A |
G |
3: 142,343,210 (GRCm39) |
T576A |
probably benign |
Het |
Gm15446 |
T |
A |
5: 110,088,590 (GRCm39) |
|
probably null |
Het |
Gtf2a1 |
G |
T |
12: 91,542,411 (GRCm39) |
T57K |
possibly damaging |
Het |
Hps5 |
T |
C |
7: 46,425,218 (GRCm39) |
E494G |
probably benign |
Het |
Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
Hydin |
A |
G |
8: 111,268,179 (GRCm39) |
N2886S |
probably damaging |
Het |
Ighv2-6-8 |
T |
C |
12: 113,759,773 (GRCm39) |
Y112C |
probably damaging |
Het |
Kcnf1 |
A |
T |
12: 17,225,480 (GRCm39) |
L247Q |
possibly damaging |
Het |
Kndc1 |
A |
G |
7: 139,516,938 (GRCm39) |
M1606V |
possibly damaging |
Het |
Krt27 |
T |
C |
11: 99,236,619 (GRCm39) |
T431A |
probably benign |
Het |
Lama4 |
A |
T |
10: 38,973,118 (GRCm39) |
I1562F |
probably damaging |
Het |
Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
Lrp1b |
G |
A |
2: 41,339,203 (GRCm39) |
T880I |
probably benign |
Het |
Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
Mapt |
T |
C |
11: 104,201,362 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
T |
4: 81,302,060 (GRCm39) |
V229D |
possibly damaging |
Het |
Or10am5 |
T |
A |
7: 6,518,252 (GRCm39) |
S59C |
possibly damaging |
Het |
Or6e1 |
T |
C |
14: 54,520,188 (GRCm39) |
T55A |
probably benign |
Het |
Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
Parm1 |
T |
C |
5: 91,742,039 (GRCm39) |
S136P |
probably benign |
Het |
Pcdhgb2 |
T |
A |
18: 37,824,003 (GRCm39) |
S331R |
probably benign |
Het |
Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
Rell1 |
C |
A |
5: 64,126,013 (GRCm39) |
V22L |
probably benign |
Het |
Sema6c |
T |
A |
3: 95,080,505 (GRCm39) |
L901Q |
probably benign |
Het |
Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
Slc22a23 |
A |
G |
13: 34,489,189 (GRCm39) |
L116P |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,596,925 (GRCm39) |
|
probably benign |
Het |
Tmem104 |
T |
A |
11: 115,134,749 (GRCm39) |
Y427* |
probably null |
Het |
Tmem74 |
G |
A |
15: 43,730,678 (GRCm39) |
Q122* |
probably null |
Het |
Tnpo2 |
T |
A |
8: 85,765,048 (GRCm39) |
L10Q |
probably damaging |
Het |
Trav6-2 |
G |
T |
14: 52,905,272 (GRCm39) |
A98S |
probably benign |
Het |
Ttll5 |
A |
T |
12: 86,003,376 (GRCm39) |
R214* |
probably null |
Het |
Ube2b |
A |
C |
11: 51,888,654 (GRCm39) |
V39G |
possibly damaging |
Het |
Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,925,087 (GRCm39) |
T1459I |
probably damaging |
Het |
Zc3h7a |
T |
C |
16: 10,963,099 (GRCm39) |
K754R |
probably damaging |
Het |
Zfp605 |
A |
G |
5: 110,275,602 (GRCm39) |
K240R |
probably damaging |
Het |
Zfp61 |
A |
G |
7: 23,990,700 (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 |
|
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 |
|
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'- CAGACCCAAAGCTAAGCTGG -3'
(R):5'- GCCATAGGAAGGTTTTGCCC -3'
Sequencing Primer
(F):5'- ATGCTGGGACTCTTGCCC -3'
(R):5'- CCATAGGAAGGTTTTGCCCGTTAG -3'
|
Posted On |
2015-05-15 |