Incidental Mutation 'R6709:Cyp3a44'
ID |
529049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a44
|
Ensembl Gene |
ENSMUSG00000054417 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 44 |
Synonyms |
|
MMRRC Submission |
044827-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R6709 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 145714902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
AlphaFold |
Q9EQW4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000067479
|
SMART Domains |
Protein: ENSMUSP00000069932 Gene: ENSMUSG00000054417
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: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
G |
5: 137,552,779 (GRCm39) |
D36G |
possibly damaging |
Het |
Actn1 |
T |
A |
12: 80,240,418 (GRCm39) |
D223V |
probably damaging |
Het |
Adgre1 |
A |
T |
17: 57,713,917 (GRCm39) |
N201Y |
probably benign |
Het |
Agbl4 |
T |
A |
4: 111,423,979 (GRCm39) |
|
probably benign |
Het |
Atg4d |
T |
C |
9: 21,179,944 (GRCm39) |
Y272H |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,884,242 (GRCm39) |
T367A |
possibly damaging |
Het |
Ceacam2 |
T |
C |
7: 25,229,262 (GRCm39) |
T293A |
possibly damaging |
Het |
Col19a1 |
C |
T |
1: 24,321,577 (GRCm39) |
G977E |
probably damaging |
Het |
Csnka2ip |
A |
T |
16: 64,298,932 (GRCm39) |
H33Q |
possibly damaging |
Het |
Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,594,706 (GRCm39) |
D3492G |
probably damaging |
Het |
Eepd1 |
A |
T |
9: 25,394,164 (GRCm39) |
T143S |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,940,136 (GRCm39) |
*650W |
probably null |
Het |
Etv1 |
C |
T |
12: 38,833,796 (GRCm39) |
T19I |
possibly damaging |
Het |
Fam133b |
T |
C |
5: 3,619,059 (GRCm39) |
|
probably benign |
Het |
Fgd4 |
T |
C |
16: 16,302,345 (GRCm39) |
H70R |
probably benign |
Het |
Galnt11 |
C |
T |
5: 25,453,851 (GRCm39) |
R26C |
probably damaging |
Het |
Gm136 |
T |
A |
4: 34,755,884 (GRCm39) |
Y43F |
probably damaging |
Het |
Gm17409 |
A |
T |
2: 58,361,088 (GRCm39) |
|
probably null |
Het |
Gm5591 |
A |
G |
7: 38,221,499 (GRCm39) |
I190T |
probably benign |
Het |
H1f9 |
T |
A |
11: 94,858,772 (GRCm39) |
S22R |
possibly damaging |
Het |
Htra1 |
C |
T |
7: 130,537,948 (GRCm39) |
|
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ints8 |
A |
T |
4: 11,221,117 (GRCm39) |
Y753N |
possibly damaging |
Het |
Itprid2 |
A |
G |
2: 79,475,276 (GRCm39) |
T412A |
probably benign |
Het |
L3mbtl3 |
G |
A |
10: 26,158,695 (GRCm39) |
T651I |
unknown |
Het |
Ltb4r2 |
A |
C |
14: 55,999,990 (GRCm39) |
T204P |
possibly damaging |
Het |
Ltbp3 |
G |
A |
19: 5,797,885 (GRCm39) |
|
probably null |
Het |
Mlxip |
A |
T |
5: 123,585,339 (GRCm39) |
I616F |
possibly damaging |
Het |
Mpz |
A |
T |
1: 170,978,301 (GRCm39) |
|
probably benign |
Het |
Myh11 |
A |
G |
16: 14,041,358 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
G |
7: 97,703,906 (GRCm39) |
L1949P |
probably damaging |
Het |
Olfm2 |
A |
G |
9: 20,584,009 (GRCm39) |
Y116H |
probably damaging |
Het |
Or2t47 |
T |
C |
11: 58,442,862 (GRCm39) |
M68V |
probably benign |
Het |
Or6s1 |
A |
T |
14: 51,308,286 (GRCm39) |
L188H |
probably damaging |
Het |
Pde4d |
T |
G |
13: 110,084,813 (GRCm39) |
L470R |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,472,074 (GRCm39) |
N1013K |
probably benign |
Het |
Ptpn13 |
A |
C |
5: 103,734,622 (GRCm39) |
Q2118P |
probably benign |
Het |
Pwwp2a |
C |
G |
11: 43,595,554 (GRCm39) |
L240V |
probably damaging |
Het |
Reep2 |
T |
C |
18: 34,979,263 (GRCm39) |
L196P |
probably benign |
Het |
Shank1 |
A |
T |
7: 44,003,600 (GRCm39) |
N1765I |
probably benign |
Het |
Slc25a13 |
A |
G |
6: 6,073,440 (GRCm39) |
S473P |
possibly damaging |
Het |
Slc33a1 |
C |
A |
3: 63,852,122 (GRCm39) |
M450I |
possibly damaging |
Het |
Slc45a2 |
A |
G |
15: 11,001,216 (GRCm39) |
Y105C |
possibly damaging |
Het |
Slc4a11 |
A |
T |
2: 130,526,616 (GRCm39) |
L812Q |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,301,024 (GRCm39) |
|
probably null |
Het |
Sv2b |
A |
T |
7: 74,773,887 (GRCm39) |
M528K |
probably benign |
Het |
Syngr4 |
A |
G |
7: 45,538,122 (GRCm39) |
V82A |
probably benign |
Het |
Tmem185b |
G |
A |
1: 119,454,604 (GRCm39) |
V122I |
probably benign |
Het |
Trdn |
A |
G |
10: 33,340,587 (GRCm39) |
D607G |
probably benign |
Het |
Trim10 |
T |
A |
17: 37,183,262 (GRCm39) |
I186N |
probably damaging |
Het |
Trp53i11 |
A |
T |
2: 93,030,163 (GRCm39) |
M157L |
probably benign |
Het |
Ubr3 |
C |
A |
2: 69,843,436 (GRCm39) |
H1559N |
probably damaging |
Het |
Usp25 |
A |
C |
16: 76,880,820 (GRCm39) |
E727A |
probably benign |
Het |
Vmn2r42 |
T |
A |
7: 8,195,618 (GRCm39) |
R509S |
probably benign |
Het |
Vmn2r69 |
T |
C |
7: 85,061,069 (GRCm39) |
N172D |
probably benign |
Het |
Zfp14 |
T |
C |
7: 29,737,557 (GRCm39) |
Y476C |
probably damaging |
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 |
R6727:Cyp3a44
|
UTSW |
5 |
145,731,781 (GRCm39) |
nonsense |
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'- AAGGCTCCTTAGGTAACACAAGAAG -3'
(R):5'- GGCATTTATCTTATCTCAACCATATGG -3'
Sequencing Primer
(F):5'- GAACCTTCAATTGGAAAAAGCCTC -3'
(R):5'- ACCTTTCCCAAACTACCTG -3'
|
Posted On |
2018-07-24 |