Incidental Mutation 'IGL00475:Gm5111'
| ID |
6358 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm5111
|
| Ensembl Gene |
ENSMUSG00000052730 |
| Gene Name |
predicted gene 5111 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48566379-48567518 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to T
at 48566620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009420]
[ENSMUST00000064744]
[ENSMUST00000118229]
[ENSMUST00000135151]
[ENSMUST00000154010]
[ENSMUST00000204521]
[ENSMUST00000204121]
[ENSMUST00000163452]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009420
|
| SMART Domains |
Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
|
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
|
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
1.45e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000064744
AA Change: I4F
|
| SMART Domains |
Protein: ENSMUSP00000064804
Gene: ENSMUSG00000052730
AA Change: I4F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118229
|
| SMART Domains |
Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
|
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
|
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
1.45e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130896
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135151
|
| SMART Domains |
Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
|
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
|
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
|
Pfam:zf-C2H2_6
|
284 |
300 |
1.4e-1 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154010
|
| SMART Domains |
Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
|
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
|
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
5.21e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204521
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181661
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163452
|
| SMART Domains |
Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
|
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
|
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
1.45e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
A |
16: 14,254,437 (GRCm39) |
A583T |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
| Ces1a |
A |
G |
8: 93,747,095 (GRCm39) |
L548P |
probably damaging |
Het |
| Commd9 |
C |
T |
2: 101,725,501 (GRCm39) |
R25* |
probably null |
Het |
| Depdc1b |
T |
A |
13: 108,493,974 (GRCm39) |
Y121N |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,736,325 (GRCm39) |
F736L |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,545,571 (GRCm39) |
K868R |
probably benign |
Het |
| Fgd1 |
C |
T |
X: 149,855,440 (GRCm39) |
A502V |
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,133,767 (GRCm39) |
G480* |
probably null |
Het |
| Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
| Metap1d |
C |
T |
2: 71,346,090 (GRCm39) |
A217V |
probably damaging |
Het |
| Mrpl1 |
A |
G |
5: 96,374,144 (GRCm39) |
K140E |
probably damaging |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,688,495 (GRCm39) |
|
probably null |
Het |
| Ogn |
A |
G |
13: 49,776,391 (GRCm39) |
I277V |
probably benign |
Het |
| Pole |
T |
A |
5: 110,438,962 (GRCm39) |
Y187* |
probably null |
Het |
| Psme4 |
A |
T |
11: 30,795,252 (GRCm39) |
K1254I |
probably benign |
Het |
| Rac1 |
G |
A |
5: 143,493,093 (GRCm39) |
A165V |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,152,093 (GRCm39) |
M2185K |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,176,077 (GRCm39) |
D274V |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,919,246 (GRCm39) |
Y376* |
probably null |
Het |
| Tead1 |
C |
A |
7: 112,438,662 (GRCm39) |
T66K |
probably damaging |
Het |
| Vps53 |
C |
T |
11: 75,967,861 (GRCm39) |
|
probably null |
Het |
| Zfp658 |
A |
G |
7: 43,223,500 (GRCm39) |
R592G |
possibly damaging |
Het |
| Zfyve1 |
T |
A |
12: 83,602,485 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gm5111 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1219:Gm5111
|
UTSW |
6 |
48,567,328 (GRCm39) |
intron |
probably benign |
|
|
R6261:Gm5111
|
UTSW |
6 |
48,566,526 (GRCm39) |
unclassified |
probably benign |
|
|
R6354:Gm5111
|
UTSW |
6 |
48,567,268 (GRCm39) |
intron |
probably benign |
|
|
R7701:Gm5111
|
UTSW |
6 |
48,567,027 (GRCm39) |
missense |
unknown |
|
|
R8867:Gm5111
|
UTSW |
6 |
48,566,629 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9198:Gm5111
|
UTSW |
6 |
48,567,037 (GRCm39) |
missense |
unknown |
|
|
Z1176:Gm5111
|
UTSW |
6 |
48,567,243 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation