Incidental Mutation 'IGL02176:CN725425'
ID |
283095 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
CN725425
|
Ensembl Gene |
ENSMUSG00000078932 |
Gene Name |
cDNA sequence CN725425 |
Synonyms |
Gm5807 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
IGL02176
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91083697-91145097 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 91130024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 296
(V296I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109284]
[ENSMUST00000190436]
|
AlphaFold |
A0A087WRU1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109284
AA Change: V289I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104907 Gene: ENSMUSG00000078932 AA Change: V289I
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
Pfam:DUF4552
|
219 |
643 |
2.7e-202 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190436
AA Change: V296I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140772 Gene: ENSMUSG00000078932 AA Change: V296I
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
48 |
N/A |
INTRINSIC |
Pfam:DUF4552
|
226 |
650 |
1.4e-184 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
Ankle1 |
C |
A |
8: 71,858,903 (GRCm39) |
H45Q |
probably damaging |
Het |
Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
Arhgap33 |
T |
A |
7: 30,223,476 (GRCm39) |
H851L |
possibly damaging |
Het |
Atp12a |
C |
T |
14: 56,624,636 (GRCm39) |
S972L |
probably damaging |
Het |
Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
Bckdk |
A |
G |
7: 127,505,545 (GRCm39) |
T223A |
probably benign |
Het |
C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
Efs |
C |
T |
14: 55,158,499 (GRCm39) |
G53D |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
Gabre |
G |
A |
X: 71,318,259 (GRCm39) |
Q17* |
probably null |
Het |
Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
Gpr107 |
T |
A |
2: 31,058,858 (GRCm39) |
V116D |
probably benign |
Het |
Huwe1 |
T |
C |
X: 150,686,964 (GRCm39) |
S2283P |
possibly damaging |
Het |
Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
Lrfn1 |
T |
C |
7: 28,158,111 (GRCm39) |
|
probably benign |
Het |
Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
probably damaging |
Het |
|
Other mutations in CN725425 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01541:CN725425
|
APN |
15 |
91,129,955 (GRCm39) |
missense |
possibly damaging |
0.71 |
3-1:CN725425
|
UTSW |
15 |
91,144,724 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0449:CN725425
|
UTSW |
15 |
91,123,147 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0554:CN725425
|
UTSW |
15 |
91,144,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1442:CN725425
|
UTSW |
15 |
91,123,158 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1670:CN725425
|
UTSW |
15 |
91,130,018 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1674:CN725425
|
UTSW |
15 |
91,131,124 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2425:CN725425
|
UTSW |
15 |
91,130,058 (GRCm39) |
missense |
probably damaging |
0.97 |
R3966:CN725425
|
UTSW |
15 |
91,126,890 (GRCm39) |
critical splice donor site |
probably null |
|
R4959:CN725425
|
UTSW |
15 |
91,129,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4973:CN725425
|
UTSW |
15 |
91,129,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5506:CN725425
|
UTSW |
15 |
91,120,029 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5512:CN725425
|
UTSW |
15 |
91,124,959 (GRCm39) |
missense |
probably benign |
|
R5726:CN725425
|
UTSW |
15 |
91,144,706 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5808:CN725425
|
UTSW |
15 |
91,129,847 (GRCm39) |
missense |
probably benign |
0.32 |
R5820:CN725425
|
UTSW |
15 |
91,144,900 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5945:CN725425
|
UTSW |
15 |
91,129,980 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6366:CN725425
|
UTSW |
15 |
91,131,124 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6441:CN725425
|
UTSW |
15 |
91,120,005 (GRCm39) |
missense |
probably benign |
0.33 |
R6484:CN725425
|
UTSW |
15 |
91,144,775 (GRCm39) |
missense |
probably benign |
0.32 |
R6523:CN725425
|
UTSW |
15 |
91,115,784 (GRCm39) |
missense |
probably benign |
0.01 |
R6721:CN725425
|
UTSW |
15 |
91,115,821 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6901:CN725425
|
UTSW |
15 |
91,124,966 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7341:CN725425
|
UTSW |
15 |
91,126,873 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7654:CN725425
|
UTSW |
15 |
91,123,638 (GRCm39) |
missense |
probably benign |
0.04 |
R7704:CN725425
|
UTSW |
15 |
91,119,993 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7709:CN725425
|
UTSW |
15 |
91,124,930 (GRCm39) |
missense |
probably benign |
|
R7880:CN725425
|
UTSW |
15 |
91,130,308 (GRCm39) |
nonsense |
probably null |
|
R8371:CN725425
|
UTSW |
15 |
91,124,973 (GRCm39) |
missense |
probably benign |
0.33 |
R8964:CN725425
|
UTSW |
15 |
91,119,972 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8968:CN725425
|
UTSW |
15 |
91,130,090 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9505:CN725425
|
UTSW |
15 |
91,124,867 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9632:CN725425
|
UTSW |
15 |
91,126,851 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9689:CN725425
|
UTSW |
15 |
91,120,030 (GRCm39) |
missense |
possibly damaging |
0.70 |
Z1088:CN725425
|
UTSW |
15 |
91,129,965 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2015-04-16 |