Incidental Mutation 'R4025:Spns1'
| ID |
313443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spns1
|
| Ensembl Gene |
ENSMUSG00000030741 |
| Gene Name |
SPNS lysolipid transporter 1, lysophospholipid |
| Synonyms |
2210013K02Rik, spinster homolog |
| MMRRC Submission |
040958-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4025 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 125976118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 28
(C28*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032994]
[ENSMUST00000119754]
[ENSMUST00000119846]
[ENSMUST00000138141]
[ENSMUST00000150476]
[ENSMUST00000205366]
[ENSMUST00000205930]
|
| AlphaFold |
Q8R0G7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032994
AA Change: C44*
|
| SMART Domains |
Protein: ENSMUSP00000032994
Gene: ENSMUSG00000030741
AA Change: C44*
| 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: ENSMUST00000119754
AA Change: C44*
|
| SMART Domains |
Protein: ENSMUSP00000112555
Gene: ENSMUSG00000030741
AA Change: C44*
| 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
AA Change: C44*
|
| SMART Domains |
Protein: ENSMUSP00000112954
Gene: ENSMUSG00000030741
AA Change: C44*
| 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 null
Transcript: ENSMUST00000138141
AA Change: C44*
|
| SMART Domains |
Protein: ENSMUSP00000117803
Gene: ENSMUSG00000030741
AA Change: C44*
| 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 null
Transcript: ENSMUST00000150476
AA Change: C14*
|
| SMART Domains |
Protein: ENSMUSP00000115152
Gene: ENSMUSG00000030741
AA Change: C14*
| 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 null
Transcript: ENSMUST00000205366
AA Change: C44*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205930
AA Change: C28*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206377
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 80,011,512 (GRCm39) |
D1293G |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,168,624 (GRCm39) |
K1428N |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,552,905 (GRCm39) |
S121P |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Gm9920 |
A |
G |
15: 54,975,966 (GRCm39) |
R25G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,735,706 (GRCm39) |
A1651V |
probably benign |
Het |
| Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
| Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,389 (GRCm39) |
I29V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,816,827 (GRCm39) |
R763W |
probably damaging |
Het |
| Or8d4 |
T |
C |
9: 40,038,796 (GRCm39) |
T154A |
probably benign |
Het |
| Papss2 |
T |
C |
19: 32,629,323 (GRCm39) |
I304T |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,634,485 (GRCm39) |
I693F |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,236,583 (GRCm39) |
I454N |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,316,378 (GRCm39) |
E2366G |
probably benign |
Het |
| Slc22a20 |
T |
C |
19: 6,035,808 (GRCm39) |
T121A |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,525,685 (GRCm39) |
S262P |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,078,040 (GRCm39) |
N276I |
probably damaging |
Het |
| Spag7 |
C |
A |
11: 70,555,300 (GRCm39) |
E130D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,876,909 (GRCm39) |
G805D |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,171,800 (GRCm39) |
D41G |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,841,776 (GRCm39) |
|
probably benign |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,341,746 (GRCm39) |
D1329G |
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 |
|
|
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'- GTCTGTAAGAACCCCTGGAAAG -3'
(R):5'- TAGTGGGCAAGTCTTCTCGC -3'
Sequencing Primer
(F):5'- CAAAGAATGAGCGCCAAGAG -3'
(R):5'- GGCAAGTCTTCTCGCAGTCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation