Incidental Mutation 'R6628:Cyp2s1'
| ID |
524910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2s1
|
| Ensembl Gene |
ENSMUSG00000040703 |
| Gene Name |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
| Synonyms |
1200011C15Rik |
| MMRRC Submission |
044750-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6628 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25501894-25515950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25514466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 64
(K64E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043314]
[ENSMUST00000108395]
[ENSMUST00000156714]
|
| AlphaFold |
Q9DBX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043314
AA Change: K64E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703
AA Change: K64E
| 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: K64E
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104032
Gene: ENSMUSG00000040703
AA Change: K64E
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156714
|
| SMART Domains |
Protein: ENSMUSP00000122264
Gene: ENSMUSG00000040703
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
91 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206602
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
C |
16: 85,592,713 (GRCm39) |
M565R |
probably benign |
Het |
| Cd4 |
A |
G |
6: 124,856,431 (GRCm39) |
L20P |
unknown |
Het |
| Chrm2 |
G |
T |
6: 36,500,292 (GRCm39) |
V50F |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,725,788 (GRCm39) |
T828A |
probably damaging |
Het |
| Clec4a4 |
A |
G |
6: 122,989,763 (GRCm39) |
K135E |
probably benign |
Het |
| Clmn |
T |
C |
12: 104,740,045 (GRCm39) |
R961G |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,240,591 (GRCm39) |
D213G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,351,598 (GRCm39) |
E139V |
possibly damaging |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,267,246 (GRCm39) |
D928E |
probably benign |
Het |
| Gulo |
T |
C |
14: 66,241,619 (GRCm39) |
K80E |
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,439,946 (GRCm39) |
S63G |
possibly damaging |
Het |
| Kdm5d |
A |
G |
Y: 900,525 (GRCm39) |
Y190C |
probably damaging |
Homo |
| Kif27 |
A |
T |
13: 58,502,611 (GRCm39) |
H22Q |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,503,926 (GRCm39) |
D383G |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,111,503 (GRCm39) |
E741G |
probably benign |
Het |
| Mphosph9 |
G |
T |
5: 124,436,825 (GRCm39) |
N506K |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,620,638 (GRCm39) |
S1674P |
probably damaging |
Het |
| Or5h26 |
T |
C |
16: 58,988,344 (GRCm39) |
H54R |
probably benign |
Het |
| Or8j3c |
T |
G |
2: 86,253,361 (GRCm39) |
N220H |
probably benign |
Het |
| Pdcd10 |
A |
G |
3: 75,428,378 (GRCm39) |
V82A |
probably damaging |
Het |
| Ptpn11 |
G |
T |
5: 121,272,892 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,049,917 (GRCm39) |
L475P |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,040,236 (GRCm39) |
D781G |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,043,236 (GRCm39) |
T751A |
probably benign |
Het |
| Tbx18 |
A |
T |
9: 87,597,588 (GRCm39) |
Y315* |
probably null |
Het |
| Wrap53 |
T |
C |
11: 69,452,970 (GRCm39) |
K446E |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,661,963 (GRCm39) |
|
probably null |
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 |
|
|
R3958:Cyp2s1
|
UTSW |
7 |
25,503,379 (GRCm39) |
missense |
probably null |
0.08 |
|
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 |
|
|
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'- AGGCACTCAGTCACCTGTAC -3'
(R):5'- AGAGAGCAGCTTCCCAAAG -3'
Sequencing Primer
(F):5'- AAAGCTCCAGACCTGCAGTGG -3'
(R):5'- CAAAGGGATGCTTTGGATTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation