Incidental Mutation 'R9425:Cyp3a44'
ID |
712561 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a44
|
Ensembl Gene |
ENSMUSG00000054417 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 44 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R9425 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 145740548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 31
(G31*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
AlphaFold |
Q9EQW4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000067479
AA Change: G31*
|
SMART Domains |
Protein: ENSMUSP00000069932 Gene: ENSMUSG00000054417 AA Change: G31*
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
C |
3: 121,926,344 (GRCm39) |
S1260T |
probably damaging |
Het |
Adgra2 |
A |
G |
8: 27,576,094 (GRCm39) |
I41V |
probably benign |
Het |
Adgrf1 |
A |
G |
17: 43,621,274 (GRCm39) |
I504V |
possibly damaging |
Het |
Agtrap |
A |
G |
4: 148,165,019 (GRCm39) |
I136T |
probably damaging |
Het |
Arhgef7 |
C |
T |
8: 11,867,736 (GRCm39) |
T601I |
probably damaging |
Het |
Asb7 |
T |
C |
7: 66,328,987 (GRCm39) |
I18V |
possibly damaging |
Het |
C1rl |
T |
C |
6: 124,485,322 (GRCm39) |
V231A |
probably benign |
Het |
Cachd1 |
A |
T |
4: 100,832,057 (GRCm39) |
T740S |
probably benign |
Het |
Ccdc146 |
T |
A |
5: 21,508,135 (GRCm39) |
I638F |
probably damaging |
Het |
Ccser2 |
T |
C |
14: 36,601,163 (GRCm39) |
N407S |
probably benign |
Het |
Clec7a |
G |
A |
6: 129,442,514 (GRCm39) |
S126L |
probably damaging |
Het |
Copb1 |
C |
T |
7: 113,848,182 (GRCm39) |
G118R |
probably damaging |
Het |
Cpne3 |
A |
T |
4: 19,525,148 (GRCm39) |
M449K |
probably damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,423,880 (GRCm39) |
C815S |
probably damaging |
Het |
Cyp27b1 |
T |
C |
10: 126,886,006 (GRCm39) |
L253P |
probably damaging |
Het |
Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
Dmgdh |
A |
T |
13: 93,880,813 (GRCm39) |
I748L |
probably benign |
Het |
Drc1 |
T |
A |
5: 30,502,938 (GRCm39) |
W154R |
probably benign |
Het |
E330034G19Rik |
T |
A |
14: 24,358,387 (GRCm39) |
|
probably null |
Het |
Gbp7 |
T |
A |
3: 142,248,718 (GRCm39) |
V327E |
probably damaging |
Het |
Gm11564 |
G |
A |
11: 99,706,065 (GRCm39) |
P122S |
unknown |
Het |
Grid2ip |
C |
A |
5: 143,367,435 (GRCm39) |
S615R |
|
Het |
Kcp |
T |
A |
6: 29,489,151 (GRCm39) |
Q1045L |
probably benign |
Het |
Lgals3bp |
T |
A |
11: 118,284,751 (GRCm39) |
E276V |
probably damaging |
Het |
Lrit1 |
T |
C |
14: 36,784,208 (GRCm39) |
V512A |
possibly damaging |
Het |
Mecom |
T |
A |
3: 30,039,597 (GRCm39) |
H154L |
probably benign |
Het |
Mmp14 |
C |
A |
14: 54,677,804 (GRCm39) |
T475K |
probably damaging |
Het |
Mmp1a |
T |
G |
9: 7,476,210 (GRCm39) |
F436V |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,795,801 (GRCm39) |
S830G |
probably benign |
Het |
Oas1b |
T |
C |
5: 120,955,693 (GRCm39) |
L158P |
probably benign |
Het |
Odf4 |
A |
G |
11: 68,813,810 (GRCm39) |
V126A |
probably benign |
Het |
Olfml2a |
A |
G |
2: 38,847,721 (GRCm39) |
T427A |
probably damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,473 (GRCm39) |
Y125C |
probably damaging |
Het |
Or4c102 |
C |
A |
2: 88,422,877 (GRCm39) |
T243K |
probably damaging |
Het |
Or5b121 |
C |
T |
19: 13,507,222 (GRCm39) |
L106F |
probably damaging |
Het |
Or6d12 |
G |
A |
6: 116,493,574 (GRCm39) |
E279K |
possibly damaging |
Het |
Or8b42 |
A |
G |
9: 38,342,286 (GRCm39) |
K236R |
possibly damaging |
Het |
Panx3 |
G |
A |
9: 37,572,393 (GRCm39) |
H386Y |
probably benign |
Het |
Papss1 |
C |
A |
3: 131,270,708 (GRCm39) |
C8* |
probably null |
Het |
Papss2 |
G |
T |
19: 32,615,750 (GRCm39) |
V161L |
possibly damaging |
Het |
Pcdh18 |
G |
T |
3: 49,709,051 (GRCm39) |
H755N |
possibly damaging |
Het |
Pilrb2 |
G |
C |
5: 137,866,964 (GRCm39) |
H180D |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,133,264 (GRCm39) |
D645G |
possibly damaging |
Het |
Pnlip |
A |
T |
19: 58,669,290 (GRCm39) |
K430* |
probably null |
Het |
Ralbp1 |
C |
A |
17: 66,171,506 (GRCm39) |
A156S |
possibly damaging |
Het |
Rnf4 |
C |
T |
5: 34,508,641 (GRCm39) |
R168C |
probably benign |
Het |
Slc17a5 |
C |
T |
9: 78,484,457 (GRCm39) |
G127E |
probably damaging |
Het |
Slc22a27 |
A |
T |
19: 7,874,156 (GRCm39) |
N306K |
probably damaging |
Het |
Slc5a9 |
G |
A |
4: 111,734,803 (GRCm39) |
R664C |
probably damaging |
Het |
Slco1b2 |
T |
A |
6: 141,603,249 (GRCm39) |
I210K |
possibly damaging |
Het |
Snx16 |
C |
T |
3: 10,499,520 (GRCm39) |
R170H |
probably damaging |
Het |
Speer4e1 |
T |
C |
5: 14,987,136 (GRCm39) |
I90V |
possibly damaging |
Het |
Stxbp5l |
T |
C |
16: 36,994,706 (GRCm39) |
D733G |
possibly damaging |
Het |
Tbc1d24 |
A |
G |
17: 24,404,382 (GRCm39) |
V254A |
probably benign |
Het |
Tmf1 |
A |
G |
6: 97,149,293 (GRCm39) |
F485L |
probably benign |
Het |
Tnks |
G |
A |
8: 35,340,819 (GRCm39) |
L396F |
probably damaging |
Het |
Trabd |
T |
C |
15: 88,969,496 (GRCm39) |
C230R |
probably damaging |
Het |
Trp53rkb |
C |
T |
2: 166,637,542 (GRCm39) |
A166V |
probably benign |
Het |
Upf1 |
A |
T |
8: 70,792,003 (GRCm39) |
D418E |
probably benign |
Het |
Ust |
A |
C |
10: 8,205,873 (GRCm39) |
S137A |
probably damaging |
Het |
Zfp513 |
T |
A |
5: 31,357,695 (GRCm39) |
H228L |
possibly damaging |
Het |
Zfp827 |
C |
A |
8: 79,905,588 (GRCm39) |
A855E |
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 |
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 |
Z1176:Cyp3a44
|
UTSW |
5 |
145,728,474 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGAGTATGAGGACCCGATATC -3'
(R):5'- ATCCATGAGAACTCAGCATACATG -3'
Sequencing Primer
(F):5'- GAGGACCCGATATCTCAGGATTTC -3'
(R):5'- GCAGTTGGCTAACATGCAAATTCAC -3'
|
Posted On |
2022-05-16 |