Incidental Mutation 'IGL01541:CN725425'
| ID |
90157 |
| 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 # |
IGL01541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
91083697-91145097 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91129955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 273
(F273I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109284]
[ENSMUST00000190436]
|
| AlphaFold |
A0A087WRU1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109284
AA Change: F266I
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: F266I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
|
Pfam:DUF4552
|
219 |
643 |
2.7e-202 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190436
AA Change: F273I
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: F273I
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,762,205 (GRCm39) |
S505G |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,985,243 (GRCm39) |
H2176Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,572 (GRCm39) |
D2544Y |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,350,283 (GRCm39) |
F88L |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,723 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,708,907 (GRCm39) |
V1251A |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,965 (GRCm39) |
C104R |
probably damaging |
Het |
| Ercc3 |
A |
T |
18: 32,381,372 (GRCm39) |
D396V |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,940,014 (GRCm39) |
D556V |
probably damaging |
Het |
| Frg1 |
C |
T |
8: 41,863,362 (GRCm39) |
|
probably benign |
Het |
| Fto |
T |
C |
8: 92,136,376 (GRCm39) |
Y217H |
probably damaging |
Het |
| Garin4 |
A |
T |
1: 190,896,606 (GRCm39) |
Y12* |
probably null |
Het |
| Grin3a |
A |
T |
4: 49,792,533 (GRCm39) |
V400E |
probably damaging |
Het |
| Gtse1 |
T |
A |
15: 85,759,855 (GRCm39) |
L682* |
probably null |
Het |
| Igkv6-32 |
A |
G |
6: 70,051,290 (GRCm39) |
I22T |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,215,905 (GRCm39) |
C35R |
probably damaging |
Het |
| Lzts3 |
A |
T |
2: 130,478,126 (GRCm39) |
L324Q |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,236,069 (GRCm39) |
R453* |
probably null |
Het |
| Naa35 |
T |
A |
13: 59,748,777 (GRCm39) |
H132Q |
probably damaging |
Het |
| Pgm5 |
C |
A |
19: 24,793,777 (GRCm39) |
G296W |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,805,272 (GRCm39) |
C3275S |
probably damaging |
Het |
| Podxl2 |
A |
G |
6: 88,826,331 (GRCm39) |
L325P |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,371,050 (GRCm39) |
|
probably null |
Het |
| Rab12 |
T |
C |
17: 66,804,404 (GRCm39) |
S185G |
probably damaging |
Het |
| Rnf43 |
T |
G |
11: 87,621,046 (GRCm39) |
M313R |
probably null |
Het |
| Rusc2 |
T |
C |
4: 43,415,840 (GRCm39) |
V382A |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,516,618 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,816,770 (GRCm39) |
I10T |
probably benign |
Het |
| Smpd1 |
T |
C |
7: 105,205,033 (GRCm39) |
F304S |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,044,725 (GRCm39) |
V1454I |
probably benign |
Het |
| Tdrd7 |
A |
T |
4: 46,018,551 (GRCm39) |
I722F |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,262,364 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,807,502 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,778 (GRCm39) |
M169I |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,257 (GRCm39) |
S789G |
unknown |
Het |
| Zfp629 |
G |
T |
7: 127,211,917 (GRCm39) |
|
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,230,156 (GRCm39) |
R123I |
probably benign |
Het |
|
| Other mutations in CN725425 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02176:CN725425
|
APN |
15 |
91,130,024 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-12-03 |
Incidental Mutation