Incidental Mutation 'R6011:Cyp3a44'
| ID |
479749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a44
|
| Ensembl Gene |
ENSMUSG00000054417 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 44 |
| Synonyms |
|
| MMRRC Submission |
043253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R6011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 145738084 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: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
| Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
| Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
| Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
| Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
| Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
| Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
| Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
| Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
| Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
| Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
| Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
| Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
| Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
| Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
| Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly 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 |
|
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 |
|
|
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'- GCCTCAGTGTGCAATGTTTTC -3'
(R):5'- ACAGGGTGTCATGTGTCCTG -3'
Sequencing Primer
(F):5'- CTCAGTGTGCAATGTTTTCATGTC -3'
(R):5'- GCTCCTGACACATCAAACATTTCTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation