Incidental Mutation 'R3958:Cyp2s1'
| ID |
310802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2s1
|
| Ensembl Gene |
ENSMUSG00000040703 |
| Gene Name |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
| Synonyms |
1200011C15Rik |
| MMRRC Submission |
040834-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3958 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25501894-25515950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25503379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 424
(R424Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043314]
[ENSMUST00000108395]
|
| AlphaFold |
Q9DBX6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043314
AA Change: R424Q
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703
AA Change: R424Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:p450
|
34 |
493 |
6.4e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108395
AA Change: R424Q
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104032
Gene: ENSMUSG00000040703
AA Change: R424Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:p450
|
34 |
440 |
4e-108 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152560
|
| Meta Mutation Damage Score |
0.1058 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and appear normal in terms of body weight, growth rate, organ weight, and daily activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
G |
17: 33,652,738 (GRCm39) |
K266R |
probably benign |
Het |
| Cebpd |
T |
C |
16: 15,705,327 (GRCm39) |
S47P |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,364,028 (GRCm39) |
R345H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,611 (GRCm39) |
V183A |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Glyat |
A |
T |
19: 12,617,197 (GRCm39) |
K16N |
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,206,120 (GRCm39) |
|
noncoding transcript |
Het |
| Grin1 |
G |
A |
2: 25,203,465 (GRCm39) |
T182M |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,751,331 (GRCm39) |
V319A |
unknown |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,884 (GRCm39) |
Q18* |
probably null |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,753,430 (GRCm39) |
T141M |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,153,641 (GRCm39) |
E2428G |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,276,804 (GRCm39) |
V119A |
probably benign |
Het |
| Or4k41 |
G |
T |
2: 111,280,230 (GRCm39) |
L248F |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,786 (GRCm39) |
D1048G |
probably damaging |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,546,583 (GRCm39) |
V305D |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
| Prmt8 |
G |
A |
6: 127,709,707 (GRCm39) |
T51I |
probably benign |
Het |
| Rgl3 |
T |
C |
9: 21,886,885 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Selp |
T |
C |
1: 163,953,855 (GRCm39) |
S52P |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,837 (GRCm39) |
I615T |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,183 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tmem106b |
A |
T |
6: 13,081,587 (GRCm39) |
N165Y |
probably damaging |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,852 (GRCm39) |
I110V |
probably damaging |
Het |
|
| Other mutations in Cyp2s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Cyp2s1
|
APN |
7 |
25,508,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:Cyp2s1
|
APN |
7 |
25,507,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Cyp2s1
|
APN |
7 |
25,515,849 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02927:Cyp2s1
|
APN |
7 |
25,507,577 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03358:Cyp2s1
|
APN |
7 |
25,507,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:Cyp2s1
|
UTSW |
7 |
25,511,114 (GRCm39) |
splice site |
probably null |
|
|
R0523:Cyp2s1
|
UTSW |
7 |
25,505,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Cyp2s1
|
UTSW |
7 |
25,508,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Cyp2s1
|
UTSW |
7 |
25,508,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Cyp2s1
|
UTSW |
7 |
25,508,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1086:Cyp2s1
|
UTSW |
7 |
25,505,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Cyp2s1
|
UTSW |
7 |
25,503,379 (GRCm39) |
missense |
probably null |
0.08 |
|
R3732:Cyp2s1
|
UTSW |
7 |
25,503,379 (GRCm39) |
missense |
probably null |
0.08 |
|
R3733:Cyp2s1
|
UTSW |
7 |
25,503,379 (GRCm39) |
missense |
probably null |
0.08 |
|
R3813:Cyp2s1
|
UTSW |
7 |
25,505,291 (GRCm39) |
splice site |
probably null |
|
|
R4593:Cyp2s1
|
UTSW |
7 |
25,515,867 (GRCm39) |
unclassified |
probably benign |
|
|
R4965:Cyp2s1
|
UTSW |
7 |
25,508,710 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5278:Cyp2s1
|
UTSW |
7 |
25,505,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5642:Cyp2s1
|
UTSW |
7 |
25,515,744 (GRCm39) |
splice site |
probably null |
|
|
R6258:Cyp2s1
|
UTSW |
7 |
25,515,867 (GRCm39) |
unclassified |
probably benign |
|
|
R6628:Cyp2s1
|
UTSW |
7 |
25,514,466 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6762:Cyp2s1
|
UTSW |
7 |
25,507,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Cyp2s1
|
UTSW |
7 |
25,505,398 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8145:Cyp2s1
|
UTSW |
7 |
25,507,467 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8275:Cyp2s1
|
UTSW |
7 |
25,508,735 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9733:Cyp2s1
|
UTSW |
7 |
25,507,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCACATCTGGCTCCACAG -3'
(R):5'- GGGGCACAGACGTGTTTAC -3'
Sequencing Primer
(F):5'- TCTGGCTCCACAGATATGGG -3'
(R):5'- AGCTGAGGACCCAAGTTTTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation