Incidental Mutation 'R6727:Cyp3a44'
ID |
529903 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a44
|
Ensembl Gene |
ENSMUSG00000054417 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 44 |
Synonyms |
|
MMRRC Submission |
044845-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R6727 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 145731781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 122
(K122*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
AlphaFold |
Q9EQW4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000067479
AA Change: K122*
|
SMART Domains |
Protein: ENSMUSP00000069932 Gene: ENSMUSG00000054417 AA Change: K122*
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:p450
|
38 |
494 |
2.4e-133 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010109A12Rik |
A |
G |
5: 93,354,434 (GRCm39) |
|
probably benign |
Het |
4930563M21Rik |
C |
T |
9: 55,896,760 (GRCm39) |
V283I |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Allc |
T |
A |
12: 28,607,388 (GRCm39) |
H288L |
probably damaging |
Het |
Atg16l1 |
T |
C |
1: 87,702,576 (GRCm39) |
I279T |
possibly damaging |
Het |
Atp6v1b1 |
A |
G |
6: 83,728,857 (GRCm39) |
|
probably benign |
Het |
Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
Brd8dc |
T |
A |
18: 34,713,894 (GRCm39) |
M244L |
probably benign |
Het |
Cfap58 |
A |
T |
19: 47,943,856 (GRCm39) |
D352V |
probably benign |
Het |
Dnai1 |
G |
T |
4: 41,625,308 (GRCm39) |
R424L |
probably benign |
Het |
Dync1li2 |
G |
T |
8: 105,167,167 (GRCm39) |
H79Q |
probably damaging |
Het |
Fem1b |
A |
G |
9: 62,704,015 (GRCm39) |
V415A |
possibly damaging |
Het |
Fgb |
C |
T |
3: 82,954,094 (GRCm39) |
S48N |
possibly damaging |
Het |
Gm5624 |
T |
C |
14: 44,799,332 (GRCm39) |
D31G |
possibly damaging |
Het |
Gzmn |
T |
A |
14: 56,403,432 (GRCm39) |
I226F |
probably damaging |
Het |
H2-T5 |
A |
T |
17: 36,476,622 (GRCm39) |
V284E |
probably damaging |
Het |
Il31ra |
T |
C |
13: 112,683,902 (GRCm39) |
S184G |
probably damaging |
Het |
Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
Kcnj15 |
A |
G |
16: 95,097,193 (GRCm39) |
S272G |
probably damaging |
Het |
Kcnk16 |
C |
T |
14: 20,312,997 (GRCm39) |
A106T |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,283,984 (GRCm39) |
V876A |
probably damaging |
Het |
Large2 |
G |
T |
2: 92,201,215 (GRCm39) |
|
probably benign |
Het |
Maml2 |
A |
T |
9: 13,532,847 (GRCm39) |
|
probably benign |
Het |
Me1 |
A |
G |
9: 86,464,851 (GRCm39) |
L533P |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,477,986 (GRCm39) |
|
probably null |
Het |
Nova2 |
C |
A |
7: 18,692,419 (GRCm39) |
T516K |
probably damaging |
Het |
Or1l4 |
T |
A |
2: 37,092,118 (GRCm39) |
N288K |
probably damaging |
Het |
Or56b1 |
T |
C |
7: 104,285,094 (GRCm39) |
I71T |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Ppp2r1a |
T |
A |
17: 21,176,087 (GRCm39) |
V103E |
probably benign |
Het |
Prl3d3 |
G |
A |
13: 27,341,147 (GRCm39) |
|
probably null |
Het |
Rhbdf1 |
G |
T |
11: 32,164,042 (GRCm39) |
A288E |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,321,147 (GRCm39) |
S1202P |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,222,154 (GRCm39) |
V106A |
probably benign |
Het |
Slc4a4 |
T |
G |
5: 89,318,624 (GRCm39) |
S640A |
probably benign |
Het |
Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
Tek |
G |
T |
4: 94,741,732 (GRCm39) |
G830* |
probably null |
Het |
Tgfb1 |
A |
T |
7: 25,388,587 (GRCm39) |
|
probably benign |
Het |
Themis |
T |
C |
10: 28,657,903 (GRCm39) |
I157T |
probably damaging |
Het |
Trmt12 |
A |
G |
15: 58,744,514 (GRCm39) |
|
probably benign |
Het |
Trrap |
T |
C |
5: 144,793,760 (GRCm39) |
W3654R |
probably damaging |
Het |
Tspan3 |
C |
T |
9: 56,054,724 (GRCm39) |
G108S |
probably damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,983,979 (GRCm39) |
|
probably null |
Het |
Vps13b |
A |
G |
15: 35,770,829 (GRCm39) |
K2091E |
probably benign |
Het |
Wdr62 |
A |
T |
7: 29,971,045 (GRCm39) |
V184D |
probably damaging |
Het |
Zfp958 |
C |
A |
8: 4,678,247 (GRCm39) |
Q90K |
probably benign |
Het |
|
Other mutations in Cyp3a44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00813:Cyp3a44
|
APN |
5 |
145,711,157 (GRCm39) |
makesense |
probably null |
|
IGL00972:Cyp3a44
|
APN |
5 |
145,716,534 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL01062:Cyp3a44
|
APN |
5 |
145,731,149 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01072:Cyp3a44
|
APN |
5 |
145,728,438 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01515:Cyp3a44
|
APN |
5 |
145,736,228 (GRCm39) |
nonsense |
probably null |
|
IGL01738:Cyp3a44
|
APN |
5 |
145,731,745 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01869:Cyp3a44
|
APN |
5 |
145,727,496 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02269:Cyp3a44
|
APN |
5 |
145,742,547 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02284:Cyp3a44
|
APN |
5 |
145,725,179 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02479:Cyp3a44
|
APN |
5 |
145,727,477 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02480:Cyp3a44
|
APN |
5 |
145,731,715 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02506:Cyp3a44
|
APN |
5 |
145,736,198 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02957:Cyp3a44
|
APN |
5 |
145,716,472 (GRCm39) |
nonsense |
probably null |
|
IGL02978:Cyp3a44
|
APN |
5 |
145,725,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R0427:Cyp3a44
|
UTSW |
5 |
145,716,412 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1240:Cyp3a44
|
UTSW |
5 |
145,711,250 (GRCm39) |
missense |
probably benign |
0.02 |
R1247:Cyp3a44
|
UTSW |
5 |
145,728,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Cyp3a44
|
UTSW |
5 |
145,716,553 (GRCm39) |
missense |
probably damaging |
0.99 |
R2096:Cyp3a44
|
UTSW |
5 |
145,725,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Cyp3a44
|
UTSW |
5 |
145,740,480 (GRCm39) |
nonsense |
probably null |
|
R2412:Cyp3a44
|
UTSW |
5 |
145,716,389 (GRCm39) |
nonsense |
probably null |
|
R4817:Cyp3a44
|
UTSW |
5 |
145,740,565 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4884:Cyp3a44
|
UTSW |
5 |
145,714,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R5266:Cyp3a44
|
UTSW |
5 |
145,731,207 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5301:Cyp3a44
|
UTSW |
5 |
145,725,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R5463:Cyp3a44
|
UTSW |
5 |
145,740,554 (GRCm39) |
missense |
probably benign |
0.00 |
R5625:Cyp3a44
|
UTSW |
5 |
145,716,376 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5635:Cyp3a44
|
UTSW |
5 |
145,738,124 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5924:Cyp3a44
|
UTSW |
5 |
145,731,137 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5964:Cyp3a44
|
UTSW |
5 |
145,725,277 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5988:Cyp3a44
|
UTSW |
5 |
145,731,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R6011:Cyp3a44
|
UTSW |
5 |
145,738,084 (GRCm39) |
critical splice donor site |
probably null |
|
R6032:Cyp3a44
|
UTSW |
5 |
145,714,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R6032:Cyp3a44
|
UTSW |
5 |
145,714,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R6413:Cyp3a44
|
UTSW |
5 |
145,731,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R6579:Cyp3a44
|
UTSW |
5 |
145,727,516 (GRCm39) |
missense |
probably damaging |
0.99 |
R6587:Cyp3a44
|
UTSW |
5 |
145,742,569 (GRCm39) |
missense |
probably benign |
0.23 |
R6709:Cyp3a44
|
UTSW |
5 |
145,714,902 (GRCm39) |
splice site |
probably null |
|
R6825:Cyp3a44
|
UTSW |
5 |
145,716,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R7142:Cyp3a44
|
UTSW |
5 |
145,714,771 (GRCm39) |
missense |
probably benign |
0.24 |
R7352:Cyp3a44
|
UTSW |
5 |
145,740,498 (GRCm39) |
missense |
probably benign |
0.01 |
R7921:Cyp3a44
|
UTSW |
5 |
145,728,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7962:Cyp3a44
|
UTSW |
5 |
145,738,135 (GRCm39) |
missense |
probably benign |
|
R8099:Cyp3a44
|
UTSW |
5 |
145,725,212 (GRCm39) |
missense |
probably benign |
0.12 |
R8240:Cyp3a44
|
UTSW |
5 |
145,725,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R8836:Cyp3a44
|
UTSW |
5 |
145,731,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R8923:Cyp3a44
|
UTSW |
5 |
145,736,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R8934:Cyp3a44
|
UTSW |
5 |
145,731,786 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9019:Cyp3a44
|
UTSW |
5 |
145,727,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Cyp3a44
|
UTSW |
5 |
145,725,202 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9293:Cyp3a44
|
UTSW |
5 |
145,711,187 (GRCm39) |
missense |
probably benign |
0.00 |
R9425:Cyp3a44
|
UTSW |
5 |
145,740,548 (GRCm39) |
nonsense |
probably null |
|
Z1176:Cyp3a44
|
UTSW |
5 |
145,728,474 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGCATGCCTTTCTCTGC -3'
(R):5'- CCCTGGACATAATTTTCCAACC -3'
Sequencing Primer
(F):5'- GCCTCAAGTACTTTACCAAAATGTC -3'
(R):5'- CTGGACATAATTTTCCAACCACAGTG -3'
|
Posted On |
2018-08-01 |