Incidental Mutation 'R4778:Cyp2c69'
ID |
368111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c69
|
Ensembl Gene |
ENSMUSG00000092008 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
Synonyms |
AI098658 |
MMRRC Submission |
042414-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R4778 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39866038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 185
(N185S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
AlphaFold |
E9PXC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168838
AA Change: N185S
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000132832 Gene: ENSMUSG00000092008 AA Change: N185S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
7e-152 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,615,342 (GRCm39) |
N1349S |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,989,339 (GRCm39) |
V3541A |
possibly damaging |
Het |
Arhgap33 |
T |
A |
7: 30,231,518 (GRCm39) |
T156S |
probably benign |
Het |
Bltp1 |
T |
A |
3: 36,991,214 (GRCm39) |
M897K |
possibly damaging |
Het |
Card11 |
G |
T |
5: 140,869,537 (GRCm39) |
|
probably null |
Het |
Cdh3 |
T |
A |
8: 107,270,458 (GRCm39) |
I445N |
probably damaging |
Het |
Csrp3 |
T |
G |
7: 48,482,311 (GRCm39) |
K169N |
probably damaging |
Het |
Czib |
T |
C |
4: 107,749,195 (GRCm39) |
V64A |
probably damaging |
Het |
Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
Erc1 |
A |
T |
6: 119,774,298 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
C |
8: 45,491,363 (GRCm39) |
V3808A |
probably benign |
Het |
Fbxw19 |
T |
C |
9: 109,323,714 (GRCm39) |
D87G |
probably damaging |
Het |
Gm1123 |
T |
C |
9: 98,900,560 (GRCm39) |
I99V |
probably benign |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Hand1 |
T |
C |
11: 57,722,449 (GRCm39) |
D55G |
possibly damaging |
Het |
Lrguk |
T |
A |
6: 34,033,015 (GRCm39) |
I227K |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,683,583 (GRCm39) |
R726* |
probably null |
Het |
Minar1 |
T |
A |
9: 89,485,155 (GRCm39) |
I81F |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,619,694 (GRCm39) |
V1415E |
probably damaging |
Het |
Myof |
T |
C |
19: 37,938,011 (GRCm39) |
D901G |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,563,156 (GRCm39) |
Y670H |
probably damaging |
Het |
Nmd3 |
T |
A |
3: 69,638,924 (GRCm39) |
Y171* |
probably null |
Het |
Notch4 |
C |
T |
17: 34,801,485 (GRCm39) |
A1111V |
possibly damaging |
Het |
Nphp4 |
T |
A |
4: 152,640,748 (GRCm39) |
D1038E |
probably benign |
Het |
Or2ag1b |
A |
C |
7: 106,288,874 (GRCm39) |
S21R |
probably damaging |
Het |
Or5p60 |
A |
T |
7: 107,723,687 (GRCm39) |
I261N |
possibly damaging |
Het |
Osbpl10 |
C |
T |
9: 114,938,598 (GRCm39) |
S86L |
probably damaging |
Het |
Pcsk6 |
G |
A |
7: 65,608,893 (GRCm39) |
G252R |
probably damaging |
Het |
Pole |
T |
G |
5: 110,478,698 (GRCm39) |
H15Q |
probably benign |
Het |
Pstpip1 |
A |
G |
9: 56,035,904 (GRCm39) |
D383G |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,426,883 (GRCm39) |
T1551A |
probably benign |
Het |
Rasgrf2 |
A |
G |
13: 92,131,780 (GRCm39) |
F626L |
probably damaging |
Het |
Retreg1 |
C |
A |
15: 25,971,871 (GRCm39) |
N394K |
possibly damaging |
Het |
Rpl7-ps8 |
T |
A |
15: 59,083,252 (GRCm39) |
|
noncoding transcript |
Het |
Rpp14 |
T |
A |
14: 8,090,203 (GRCm38) |
D42E |
probably benign |
Het |
Rrp8 |
T |
A |
7: 105,386,481 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Snx1 |
T |
C |
9: 66,008,698 (GRCm39) |
|
probably benign |
Het |
Stau1 |
A |
T |
2: 166,805,442 (GRCm39) |
N51K |
probably benign |
Het |
Tdrd5 |
T |
A |
1: 156,083,157 (GRCm39) |
D960V |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,436,468 (GRCm39) |
D750G |
probably damaging |
Het |
Tmem43 |
T |
C |
6: 91,459,237 (GRCm39) |
V236A |
probably damaging |
Het |
Tmem89 |
T |
C |
9: 108,744,443 (GRCm39) |
V112A |
probably damaging |
Het |
Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
Vmn1r41 |
A |
C |
6: 89,724,257 (GRCm39) |
K266T |
probably damaging |
Het |
Vmn2r65 |
T |
C |
7: 84,592,801 (GRCm39) |
K469E |
possibly damaging |
Het |
Zfp831 |
A |
G |
2: 174,488,600 (GRCm39) |
T1092A |
possibly damaging |
Het |
Zfp981 |
T |
A |
4: 146,622,112 (GRCm39) |
S346T |
probably benign |
Het |
|
Other mutations in Cyp2c69 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01873:Cyp2c69
|
APN |
19 |
39,869,693 (GRCm39) |
splice site |
probably benign |
|
IGL02127:Cyp2c69
|
APN |
19 |
39,839,501 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02945:Cyp2c69
|
APN |
19 |
39,875,091 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03067:Cyp2c69
|
APN |
19 |
39,869,537 (GRCm39) |
missense |
probably benign |
0.29 |
IGL03069:Cyp2c69
|
APN |
19 |
39,869,537 (GRCm39) |
missense |
probably benign |
0.29 |
BB007:Cyp2c69
|
UTSW |
19 |
39,831,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
BB017:Cyp2c69
|
UTSW |
19 |
39,831,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0545:Cyp2c69
|
UTSW |
19 |
39,875,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R1276:Cyp2c69
|
UTSW |
19 |
39,864,668 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1468:Cyp2c69
|
UTSW |
19 |
39,837,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Cyp2c69
|
UTSW |
19 |
39,837,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1534:Cyp2c69
|
UTSW |
19 |
39,839,593 (GRCm39) |
missense |
probably benign |
|
R1549:Cyp2c69
|
UTSW |
19 |
39,831,430 (GRCm39) |
missense |
probably benign |
0.11 |
R1703:Cyp2c69
|
UTSW |
19 |
39,864,810 (GRCm39) |
missense |
probably benign |
0.10 |
R1752:Cyp2c69
|
UTSW |
19 |
39,869,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R1769:Cyp2c69
|
UTSW |
19 |
39,864,815 (GRCm39) |
missense |
probably benign |
0.00 |
R1843:Cyp2c69
|
UTSW |
19 |
39,865,972 (GRCm39) |
missense |
probably benign |
0.27 |
R1938:Cyp2c69
|
UTSW |
19 |
39,837,810 (GRCm39) |
missense |
probably damaging |
0.97 |
R2100:Cyp2c69
|
UTSW |
19 |
39,875,130 (GRCm39) |
missense |
probably benign |
0.11 |
R2366:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R2367:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R2440:Cyp2c69
|
UTSW |
19 |
39,864,738 (GRCm39) |
missense |
probably benign |
0.17 |
R2931:Cyp2c69
|
UTSW |
19 |
39,837,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R3709:Cyp2c69
|
UTSW |
19 |
39,839,667 (GRCm39) |
splice site |
probably benign |
|
R3793:Cyp2c69
|
UTSW |
19 |
39,869,600 (GRCm39) |
missense |
probably benign |
0.44 |
R3898:Cyp2c69
|
UTSW |
19 |
39,864,834 (GRCm39) |
missense |
probably benign |
0.00 |
R4579:Cyp2c69
|
UTSW |
19 |
39,869,630 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4707:Cyp2c69
|
UTSW |
19 |
39,837,852 (GRCm39) |
missense |
probably benign |
0.39 |
R4779:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R4780:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R4838:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R4877:Cyp2c69
|
UTSW |
19 |
39,866,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R5488:Cyp2c69
|
UTSW |
19 |
39,839,603 (GRCm39) |
missense |
probably null |
0.94 |
R5489:Cyp2c69
|
UTSW |
19 |
39,839,603 (GRCm39) |
missense |
probably null |
0.94 |
R6083:Cyp2c69
|
UTSW |
19 |
39,837,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R6278:Cyp2c69
|
UTSW |
19 |
39,831,507 (GRCm39) |
nonsense |
probably null |
|
R6415:Cyp2c69
|
UTSW |
19 |
39,831,365 (GRCm39) |
missense |
probably benign |
0.44 |
R6732:Cyp2c69
|
UTSW |
19 |
39,869,943 (GRCm39) |
missense |
probably benign |
|
R6858:Cyp2c69
|
UTSW |
19 |
39,866,009 (GRCm39) |
missense |
probably benign |
0.19 |
R7023:Cyp2c69
|
UTSW |
19 |
39,865,986 (GRCm39) |
missense |
probably benign |
0.43 |
R7227:Cyp2c69
|
UTSW |
19 |
39,869,610 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7228:Cyp2c69
|
UTSW |
19 |
39,869,610 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7260:Cyp2c69
|
UTSW |
19 |
39,831,344 (GRCm39) |
missense |
probably benign |
0.00 |
R7262:Cyp2c69
|
UTSW |
19 |
39,875,176 (GRCm39) |
start gained |
probably benign |
|
R7479:Cyp2c69
|
UTSW |
19 |
39,870,001 (GRCm39) |
missense |
probably benign |
0.00 |
R7570:Cyp2c69
|
UTSW |
19 |
39,848,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R7663:Cyp2c69
|
UTSW |
19 |
39,865,953 (GRCm39) |
nonsense |
probably null |
|
R7785:Cyp2c69
|
UTSW |
19 |
39,839,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7795:Cyp2c69
|
UTSW |
19 |
39,864,663 (GRCm39) |
missense |
probably benign |
|
R7920:Cyp2c69
|
UTSW |
19 |
39,866,247 (GRCm39) |
splice site |
probably null |
|
R7930:Cyp2c69
|
UTSW |
19 |
39,831,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8203:Cyp2c69
|
UTSW |
19 |
39,869,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R8888:Cyp2c69
|
UTSW |
19 |
39,869,910 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8895:Cyp2c69
|
UTSW |
19 |
39,869,910 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9530:Cyp2c69
|
UTSW |
19 |
39,848,311 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9645:Cyp2c69
|
UTSW |
19 |
39,869,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R9665:Cyp2c69
|
UTSW |
19 |
39,839,504 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9753:Cyp2c69
|
UTSW |
19 |
39,865,991 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- GTACTTGTCTGACATGTCTCTATTG -3'
(R):5'- GATCACCATTCTTCAGCAGGTAAG -3'
Sequencing Primer
(F):5'- GACATGTCTCTATTGATTTTGACCTG -3'
(R):5'- CAGGTAAGTACCTAGCAGTTA -3'
|
Posted On |
2015-12-29 |