Incidental Mutation 'R7937:Spns1'
| ID |
648807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spns1
|
| Ensembl Gene |
ENSMUSG00000030741 |
| Gene Name |
SPNS lysolipid transporter 1, lysophospholipid |
| Synonyms |
2210013K02Rik, spinster homolog |
| MMRRC Submission |
045983-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7937 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
125969232-125976622 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125973226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 155
(L155P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032994]
[ENSMUST00000032997]
[ENSMUST00000119754]
[ENSMUST00000119846]
[ENSMUST00000138141]
[ENSMUST00000150476]
[ENSMUST00000205366]
[ENSMUST00000205642]
[ENSMUST00000205930]
[ENSMUST00000206793]
|
| AlphaFold |
Q8R0G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032994
AA Change: L155P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032994
Gene: ENSMUSG00000030741
AA Change: L155P
| 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 damaging
Transcript: ENSMUST00000119754
AA Change: L155P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112555
Gene: ENSMUSG00000030741
AA Change: L155P
| 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 damaging
Transcript: ENSMUST00000119846
AA Change: L155P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112954
Gene: ENSMUSG00000030741
AA Change: L155P
| 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 |
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 damaging
Transcript: ENSMUST00000150476
AA Change: L125P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115152
Gene: ENSMUSG00000030741
AA Change: L125P
| 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: ENSMUST00000205366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205642
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205930
AA Change: L139P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206793
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
GTTGATCCATACA |
G |
2: 69,154,217 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
C |
A |
15: 95,870,470 (GRCm39) |
T875K |
probably damaging |
Het |
| Armc8 |
G |
A |
9: 99,418,272 (GRCm39) |
T94I |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,977,624 (GRCm39) |
R2685* |
probably null |
Het |
| Bri3bp |
A |
T |
5: 125,531,395 (GRCm39) |
N114Y |
probably damaging |
Het |
| Camkk2 |
G |
T |
5: 122,902,097 (GRCm39) |
Q71K |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,765,736 (GRCm39) |
F49S |
|
Het |
| Cdh10 |
A |
G |
15: 18,964,335 (GRCm39) |
T166A |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,464,963 (GRCm39) |
F633L |
probably benign |
Het |
| Clec2m |
A |
G |
6: 129,307,974 (GRCm39) |
W32R |
possibly damaging |
Het |
| Cntn5 |
G |
A |
9: 9,748,450 (GRCm39) |
T477I |
probably damaging |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,202 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,408,511 (GRCm39) |
L53* |
probably null |
Het |
| Dnajc11 |
A |
G |
4: 152,034,909 (GRCm39) |
D44G |
probably damaging |
Het |
| Elovl3 |
T |
C |
19: 46,123,168 (GRCm39) |
F248S |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,517,123 (GRCm39) |
L422P |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fgd4 |
A |
G |
16: 16,287,637 (GRCm39) |
Y355H |
probably damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,820,823 (GRCm39) |
M237T |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,230,177 (GRCm39) |
K203N |
probably benign |
Het |
| Glis1 |
A |
G |
4: 107,484,723 (GRCm39) |
D594G |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,679 (GRCm39) |
H493L |
probably benign |
Het |
| Gpatch3 |
G |
T |
4: 133,310,308 (GRCm39) |
V418L |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,766,670 (GRCm39) |
N376S |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,278,243 (GRCm39) |
Q3010R |
probably benign |
Het |
| Ice2 |
T |
A |
9: 69,318,067 (GRCm39) |
F223I |
possibly damaging |
Het |
| Marchf11 |
A |
G |
15: 26,409,323 (GRCm39) |
T341A |
probably damaging |
Het |
| Mllt10 |
A |
G |
2: 18,210,895 (GRCm39) |
K770E |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,838,128 (GRCm39) |
T453A |
probably benign |
Het |
| Myh15 |
C |
T |
16: 48,976,009 (GRCm39) |
T1359I |
probably benign |
Het |
| Nbn |
A |
G |
4: 15,958,080 (GRCm39) |
K3E |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,163,571 (GRCm39) |
F913L |
probably benign |
Het |
| Nlrx1 |
G |
T |
9: 44,176,086 (GRCm39) |
A48D |
probably damaging |
Het |
| Noc3l |
C |
G |
19: 38,783,447 (GRCm39) |
G643A |
possibly damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,875 (GRCm39) |
R309G |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,180,344 (GRCm39) |
N170K |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,567,639 (GRCm39) |
|
probably null |
Het |
| Phactr1 |
A |
G |
13: 43,231,205 (GRCm39) |
I247V |
unknown |
Het |
| Pid1 |
G |
T |
1: 84,093,745 (GRCm39) |
Q48K |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,699,233 (GRCm39) |
N794S |
probably benign |
Het |
| Ppox |
G |
A |
1: 171,107,546 (GRCm39) |
S123L |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,013,772 (GRCm39) |
D778E |
probably benign |
Het |
| Rgs13 |
A |
G |
1: 144,016,600 (GRCm39) |
Y48H |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,783,078 (GRCm39) |
M190L |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,247,482 (GRCm39) |
P935L |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,601,253 (GRCm39) |
I435T |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,996,648 (GRCm39) |
H51R |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,112,199 (GRCm39) |
L378P |
probably damaging |
Het |
| St8sia4 |
T |
C |
1: 95,581,320 (GRCm39) |
T141A |
possibly damaging |
Het |
| Syt10 |
A |
T |
15: 89,666,820 (GRCm39) |
S510R |
probably damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,457,349 (GRCm39) |
F241L |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,816 (GRCm39) |
T143S |
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,609,491 (GRCm39) |
N431S |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,746,615 (GRCm39) |
S1031P |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,858,799 (GRCm39) |
Y656C |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,396,785 (GRCm39) |
C407R |
probably damaging |
Het |
| Zfp804b |
C |
T |
5: 6,821,866 (GRCm39) |
R399Q |
possibly damaging |
Het |
| Zfp949 |
T |
A |
9: 88,451,323 (GRCm39) |
C298S |
probably damaging |
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 |
|
|
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 |
|
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'- AACCTAGACCACTGTGGGAAGG -3'
(R):5'- GTGCAAAGTCCTCACAGTGTTG -3'
Sequencing Primer
(F):5'- TCAGTGAGACGCCCACC -3'
(R):5'- CCCCTTTTACAGATGAGGAAAGTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation