Incidental Mutation 'R1422:Cyp4f16'
| ID |
161147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f16
|
| Ensembl Gene |
ENSMUSG00000048440 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 16 |
| Synonyms |
2310021J05Rik |
| MMRRC Submission |
039478-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32755532-32770772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32761973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 174
(M174L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003416]
[ENSMUST00000165515]
[ENSMUST00000169252]
[ENSMUST00000169591]
|
| AlphaFold |
Q99N17 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003416
AA Change: M174L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: M174L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
52 |
515 |
4.7e-133 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164628
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165515
|
| SMART Domains |
Protein: ENSMUSP00000126845
Gene: ENSMUSG00000048440
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168346
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169252
|
| SMART Domains |
Protein: ENSMUSP00000128349
Gene: ENSMUSG00000048440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169591
AA Change: M174L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: M174L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
52 |
515 |
4.7e-133 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170956
|
| Meta Mutation Damage Score |
0.5720 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,952 (GRCm39) |
D98G |
possibly damaging |
Het |
| Coro2b |
A |
G |
9: 62,336,229 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
| Ctns |
T |
C |
11: 73,076,072 (GRCm39) |
Y321C |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,881,234 (GRCm39) |
E696G |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Gria1 |
T |
A |
11: 57,080,614 (GRCm39) |
L199Q |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
| Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
| Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
| Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,833,988 (GRCm39) |
S357P |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Spock3 |
T |
C |
8: 63,597,023 (GRCm39) |
I109T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
| Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,365,804 (GRCm39) |
K322E |
probably damaging |
Het |
|
| Other mutations in Cyp4f16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02941:Cyp4f16
|
APN |
17 |
32,756,061 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03400:Cyp4f16
|
APN |
17 |
32,769,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0437:Cyp4f16
|
UTSW |
17 |
32,756,072 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0454:Cyp4f16
|
UTSW |
17 |
32,756,061 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0482:Cyp4f16
|
UTSW |
17 |
32,769,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Cyp4f16
|
UTSW |
17 |
32,769,708 (GRCm39) |
nonsense |
probably null |
|
|
R1440:Cyp4f16
|
UTSW |
17 |
32,769,708 (GRCm39) |
nonsense |
probably null |
|
|
R1616:Cyp4f16
|
UTSW |
17 |
32,761,942 (GRCm39) |
nonsense |
probably null |
|
|
R1840:Cyp4f16
|
UTSW |
17 |
32,761,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1854:Cyp4f16
|
UTSW |
17 |
32,756,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1912:Cyp4f16
|
UTSW |
17 |
32,764,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2200:Cyp4f16
|
UTSW |
17 |
32,756,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3803:Cyp4f16
|
UTSW |
17 |
32,763,858 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4811:Cyp4f16
|
UTSW |
17 |
32,764,080 (GRCm39) |
missense |
probably benign |
|
|
R4812:Cyp4f16
|
UTSW |
17 |
32,765,652 (GRCm39) |
missense |
probably null |
1.00 |
|
R4837:Cyp4f16
|
UTSW |
17 |
32,761,738 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4867:Cyp4f16
|
UTSW |
17 |
32,769,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4909:Cyp4f16
|
UTSW |
17 |
32,769,295 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5857:Cyp4f16
|
UTSW |
17 |
32,755,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Cyp4f16
|
UTSW |
17 |
32,763,116 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6013:Cyp4f16
|
UTSW |
17 |
32,765,652 (GRCm39) |
missense |
probably null |
1.00 |
|
R6408:Cyp4f16
|
UTSW |
17 |
32,770,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Cyp4f16
|
UTSW |
17 |
32,763,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7463:Cyp4f16
|
UTSW |
17 |
32,769,761 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7923:Cyp4f16
|
UTSW |
17 |
32,765,721 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9622:Cyp4f16
|
UTSW |
17 |
32,769,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF005:Cyp4f16
|
UTSW |
17 |
32,764,169 (GRCm39) |
splice site |
probably null |
|
|
X0017:Cyp4f16
|
UTSW |
17 |
32,763,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGAATTTTCCACCTTTGTCCACTG -3'
(R):5'- ACTTGACAACCAGAGTGAACTCAGC -3'
Sequencing Primer
(F):5'- GACATTACTGCCCTCCCAGG -3'
(R):5'- tccccaggcaggtagtaag -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation