Incidental Mutation 'R2200:Cyp4f16'
| ID |
238628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f16
|
| Ensembl Gene |
ENSMUSG00000048440 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 16 |
| Synonyms |
|
| MMRRC Submission |
040202-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32536558-32551798 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32537104 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 36
(A36S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003416]
[ENSMUST00000165515]
[ENSMUST00000169252]
[ENSMUST00000169591]
|
| AlphaFold |
Q99N17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003416
AA Change: A36S
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: A36S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
52 |
515 |
4.7e-133 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164628
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165515
AA Change: A36S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126845
Gene: ENSMUSG00000048440
AA Change: A36S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169252
AA Change: A36S
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128349
Gene: ENSMUSG00000048440
AA Change: A36S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169591
AA Change: A36S
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: A36S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
52 |
515 |
4.7e-133 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170956
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
T |
C |
17: 56,958,423 (GRCm38) |
I135M |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,380,436 (GRCm38) |
E63G |
possibly damaging |
Het |
| Asah1 |
A |
G |
8: 41,343,728 (GRCm38) |
|
probably null |
Het |
| B3gat2 |
C |
T |
1: 23,762,792 (GRCm38) |
P53L |
probably benign |
Het |
| Bmp8b |
A |
T |
4: 123,123,022 (GRCm38) |
M339L |
possibly damaging |
Het |
| Bpifb9b |
C |
A |
2: 154,313,654 (GRCm38) |
Q358K |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,624,264 (GRCm38) |
D231G |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,983,753 (GRCm38) |
Y1144H |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,813,924 (GRCm38) |
I230L |
probably benign |
Het |
| Clec2d |
A |
T |
6: 129,184,868 (GRCm38) |
T155S |
possibly damaging |
Het |
| Cpxm1 |
G |
T |
2: 130,393,197 (GRCm38) |
F567L |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,102,409 (GRCm38) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,825,417 (GRCm38) |
D1280G |
probably damaging |
Het |
| Ergic1 |
C |
A |
17: 26,641,592 (GRCm38) |
A218D |
possibly damaging |
Het |
| Eva1a |
A |
G |
6: 82,091,913 (GRCm38) |
R74G |
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,730,321 (GRCm38) |
S224P |
probably damaging |
Het |
| Fus |
T |
A |
7: 127,977,228 (GRCm38) |
N273K |
probably damaging |
Het |
| Ipo13 |
A |
C |
4: 117,904,903 (GRCm38) |
|
probably null |
Het |
| Itgb3 |
T |
A |
11: 104,640,986 (GRCm38) |
|
probably null |
Het |
| Lrif1 |
T |
A |
3: 106,734,558 (GRCm38) |
S63R |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,996,609 (GRCm38) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 41,284,165 (GRCm38) |
N1547K |
probably benign |
Het |
| Mme |
A |
T |
3: 63,380,292 (GRCm38) |
N738I |
possibly damaging |
Het |
| Morc2a |
A |
G |
11: 3,683,919 (GRCm38) |
N677S |
probably benign |
Het |
| Mrpl35 |
A |
C |
6: 71,817,739 (GRCm38) |
L82V |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,555,695 (GRCm38) |
N313K |
probably damaging |
Het |
| Podn |
T |
C |
4: 108,022,590 (GRCm38) |
D66G |
probably damaging |
Het |
| Ptpru |
A |
T |
4: 131,820,813 (GRCm38) |
N52K |
probably damaging |
Het |
| Pyroxd1 |
G |
T |
6: 142,359,082 (GRCm38) |
R345L |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,789,013 (GRCm38) |
S485P |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,864,044 (GRCm38) |
D421E |
probably benign |
Het |
| Rgs10 |
T |
C |
7: 128,389,037 (GRCm38) |
E109G |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,775,320 (GRCm38) |
P178S |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,420,523 (GRCm38) |
K387E |
probably damaging |
Het |
| Sccpdh |
G |
T |
1: 179,670,606 (GRCm38) |
V72F |
possibly damaging |
Het |
| Sec22a |
A |
T |
16: 35,314,157 (GRCm38) |
V285E |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,022,943 (GRCm38) |
S118P |
probably damaging |
Het |
| Sun1 |
C |
A |
5: 139,231,219 (GRCm38) |
R338S |
probably benign |
Het |
| Taf1c |
A |
G |
8: 119,598,678 (GRCm38) |
F815S |
probably benign |
Het |
| Zcchc14 |
A |
T |
8: 121,605,428 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Cyp4f16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02941:Cyp4f16
|
APN |
17 |
32,537,087 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL03400:Cyp4f16
|
APN |
17 |
32,550,353 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0437:Cyp4f16
|
UTSW |
17 |
32,537,098 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0454:Cyp4f16
|
UTSW |
17 |
32,537,087 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0482:Cyp4f16
|
UTSW |
17 |
32,550,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1422:Cyp4f16
|
UTSW |
17 |
32,542,999 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1435:Cyp4f16
|
UTSW |
17 |
32,550,734 (GRCm38) |
nonsense |
probably null |
|
|
R1440:Cyp4f16
|
UTSW |
17 |
32,550,734 (GRCm38) |
nonsense |
probably null |
|
|
R1616:Cyp4f16
|
UTSW |
17 |
32,542,968 (GRCm38) |
nonsense |
probably null |
|
|
R1840:Cyp4f16
|
UTSW |
17 |
32,543,006 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1854:Cyp4f16
|
UTSW |
17 |
32,537,099 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1912:Cyp4f16
|
UTSW |
17 |
32,545,044 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3803:Cyp4f16
|
UTSW |
17 |
32,544,884 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4811:Cyp4f16
|
UTSW |
17 |
32,545,106 (GRCm38) |
missense |
probably benign |
|
|
R4812:Cyp4f16
|
UTSW |
17 |
32,546,678 (GRCm38) |
missense |
probably null |
1.00 |
|
R4837:Cyp4f16
|
UTSW |
17 |
32,542,764 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R4867:Cyp4f16
|
UTSW |
17 |
32,550,750 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4909:Cyp4f16
|
UTSW |
17 |
32,550,321 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5857:Cyp4f16
|
UTSW |
17 |
32,537,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5986:Cyp4f16
|
UTSW |
17 |
32,544,142 (GRCm38) |
missense |
probably benign |
0.45 |
|
R6013:Cyp4f16
|
UTSW |
17 |
32,546,678 (GRCm38) |
missense |
probably null |
1.00 |
|
R6408:Cyp4f16
|
UTSW |
17 |
32,551,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6651:Cyp4f16
|
UTSW |
17 |
32,544,144 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7463:Cyp4f16
|
UTSW |
17 |
32,550,787 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7923:Cyp4f16
|
UTSW |
17 |
32,546,747 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9622:Cyp4f16
|
UTSW |
17 |
32,550,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF005:Cyp4f16
|
UTSW |
17 |
32,545,195 (GRCm38) |
splice site |
probably null |
|
|
X0017:Cyp4f16
|
UTSW |
17 |
32,544,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCATGCTCAAAATTCTGAAG -3'
(R):5'- TGTGATGAGAATAGGGGCCC -3'
Sequencing Primer
(F):5'- GCTCAAAATTCTGAAGTTTTCCAGG -3'
(R):5'- AGGGGCCCAAATAACTTTCTTTGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation