Incidental Mutation 'R1240:Cyp3a44'
| ID |
151930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a44
|
| Ensembl Gene |
ENSMUSG00000054417 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 44 |
| Synonyms |
|
| MMRRC Submission |
039307-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1240 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 145711250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 474
(I474L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
| AlphaFold |
Q9EQW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067479
AA Change: I474L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: I474L
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
G |
5: 124,227,984 (GRCm39) |
I86L |
probably benign |
Het |
| Ankfn1 |
A |
G |
11: 89,282,960 (GRCm39) |
L229P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,549 (GRCm39) |
S164P |
probably benign |
Het |
| Arhgef28 |
C |
T |
13: 98,066,000 (GRCm39) |
V1618I |
probably benign |
Het |
| Arpc3 |
T |
C |
5: 122,542,242 (GRCm39) |
F88S |
probably damaging |
Het |
| Asgr2 |
G |
T |
11: 69,987,676 (GRCm39) |
R58L |
possibly damaging |
Het |
| Bach2 |
T |
C |
4: 32,563,198 (GRCm39) |
F432S |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,891,293 (GRCm39) |
R116S |
probably damaging |
Het |
| Casp2 |
T |
A |
6: 42,245,879 (GRCm39) |
C179S |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,906 (GRCm39) |
E618D |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,057,541 (GRCm39) |
D260V |
possibly damaging |
Het |
| Cenpc1 |
G |
T |
5: 86,183,369 (GRCm39) |
N473K |
probably benign |
Het |
| Chst2 |
T |
C |
9: 95,287,536 (GRCm39) |
E270G |
possibly damaging |
Het |
| Chst9 |
C |
T |
18: 15,586,231 (GRCm39) |
E111K |
probably benign |
Het |
| Dbr1 |
G |
T |
9: 99,466,073 (GRCm39) |
E550D |
probably benign |
Het |
| Dph6 |
T |
C |
2: 114,475,199 (GRCm39) |
|
probably null |
Het |
| Fam227b |
T |
A |
2: 125,966,505 (GRCm39) |
I136L |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,819,950 (GRCm39) |
N2559S |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,581 (GRCm39) |
I435N |
probably damaging |
Het |
| Gab1 |
A |
C |
8: 81,515,159 (GRCm39) |
S386R |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,326,098 (GRCm39) |
N31Y |
probably damaging |
Het |
| Grk2 |
A |
G |
19: 4,340,707 (GRCm39) |
C251R |
probably damaging |
Het |
| H2-DMa |
G |
T |
17: 34,357,380 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
T |
C |
4: 137,957,009 (GRCm39) |
S63P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,581,174 (GRCm39) |
|
probably null |
Het |
| Inf2 |
G |
A |
12: 112,577,210 (GRCm39) |
R1018Q |
unknown |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Klhl30 |
T |
C |
1: 91,288,737 (GRCm39) |
S499P |
probably benign |
Het |
| Lama2 |
A |
C |
10: 26,917,120 (GRCm39) |
D2268E |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,964,626 (GRCm39) |
N258S |
possibly damaging |
Het |
| Mc1r |
T |
A |
8: 124,134,999 (GRCm39) |
C251S |
probably damaging |
Het |
| Myo15b |
C |
A |
11: 115,771,327 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,456,176 (GRCm39) |
F2431S |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,186,321 (GRCm39) |
H917L |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,004,292 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
A |
T |
14: 18,211,891 (GRCm38) |
M404K |
probably benign |
Het |
| Or4b1d |
T |
G |
2: 89,969,157 (GRCm39) |
I109L |
possibly damaging |
Het |
| Or8u8 |
T |
G |
2: 86,012,453 (GRCm39) |
M1L |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,713 (GRCm39) |
S1040P |
probably benign |
Het |
| Pctp |
T |
C |
11: 89,893,640 (GRCm39) |
D10G |
probably benign |
Het |
| Pja2 |
G |
T |
17: 64,616,613 (GRCm39) |
T94K |
probably benign |
Het |
| Plxna1 |
C |
T |
6: 89,298,032 (GRCm39) |
V1749M |
probably damaging |
Het |
| Prdm15 |
C |
T |
16: 97,638,800 (GRCm39) |
E87K |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,660,937 (GRCm39) |
F1028L |
probably benign |
Het |
| Sepsecs |
T |
C |
5: 52,818,021 (GRCm39) |
N252S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
| Slc22a22 |
G |
A |
15: 57,114,268 (GRCm39) |
S353F |
probably benign |
Het |
| Slc49a4 |
A |
G |
16: 35,518,379 (GRCm39) |
F445L |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,819,212 (GRCm39) |
K137N |
probably damaging |
Het |
| Snx13 |
G |
T |
12: 35,141,405 (GRCm39) |
V163L |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,914,182 (GRCm39) |
T1115S |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,740,928 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,815 (GRCm39) |
F229L |
probably benign |
Het |
| Tg |
T |
A |
15: 66,700,397 (GRCm39) |
N118K |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,541,916 (GRCm39) |
K153E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,466,821 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,675,061 (GRCm39) |
D1953G |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,864 (GRCm39) |
S137C |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,580,271 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- TGAAGGCAAATTTCCTTTGCTGTCAC -3'
(R):5'- GGATGCATACTCTCACCATCCAAGTG -3'
Sequencing Primer
(F):5'- AGCTCAGTGGATGTACTGAATC -3'
(R):5'- TCACCATCCAAGTGAGACAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation