Incidental Mutation 'R1023:Gm10608'
| ID |
94640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10608
|
| Ensembl Gene |
ENSMUSG00000074029 |
| Gene Name |
predicted gene 10608 |
| Synonyms |
EG546165 |
| MMRRC Submission |
039125-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R1023 (G1)
|
| Quality Score |
150 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118991798-118992473 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA to CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
at 118989784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010795]
[ENSMUST00000093527]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010795
|
| SMART Domains |
Protein: ENSMUSP00000010795
Gene: ENSMUSG00000010651
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
38 |
291 |
6.7e-90 |
PFAM |
|
Pfam:Thiolase_C
|
298 |
421 |
3e-53 |
PFAM |
|
Pfam:ACP_syn_III_C
|
329 |
420 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093527
|
| SMART Domains |
Protein: ENSMUSP00000091246
Gene: ENSMUSG00000074029
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3915
|
11 |
80 |
3.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213924
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,772,632 (GRCm39) |
A607V |
probably damaging |
Het |
| 4930523C07Rik |
A |
G |
1: 159,905,057 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,550,092 (GRCm39) |
L713Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,676 (GRCm39) |
T1010A |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 123,591,939 (GRCm39) |
I608T |
probably damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,187,145 (GRCm39) |
D40E |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 120,901,207 (GRCm39) |
G118R |
unknown |
Het |
| Cryge |
C |
A |
1: 65,089,945 (GRCm39) |
C79F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,878,799 (GRCm39) |
L596P |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,277 (GRCm39) |
E490G |
probably damaging |
Het |
| Enam |
A |
G |
5: 88,649,826 (GRCm39) |
Q445R |
probably damaging |
Het |
| Gnpat |
A |
T |
8: 125,597,519 (GRCm39) |
D27V |
probably benign |
Het |
| Htr5a |
A |
T |
5: 28,047,996 (GRCm39) |
T184S |
possibly damaging |
Het |
| Lap3 |
C |
T |
5: 45,652,553 (GRCm39) |
P50S |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,288,271 (GRCm39) |
M589K |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,618,247 (GRCm39) |
P109L |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,703,778 (GRCm39) |
F168L |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,641 (GRCm39) |
F1661I |
probably damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,473 (GRCm39) |
L206H |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,178 (GRCm39) |
N307K |
probably benign |
Het |
| Plac8 |
A |
T |
5: 100,704,447 (GRCm39) |
D83E |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,091,328 (GRCm39) |
|
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,825,140 (GRCm39) |
Q86K |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,863 (GRCm39) |
L1057P |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,708,635 (GRCm39) |
H2284R |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,804,376 (GRCm39) |
C484S |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 113,095,300 (GRCm39) |
S120A |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,864,770 (GRCm39) |
V270M |
probably damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,142 (GRCm39) |
M85T |
probably benign |
Het |
| Taf1b |
G |
T |
12: 24,559,558 (GRCm39) |
|
probably benign |
Het |
| Tert |
A |
G |
13: 73,790,178 (GRCm39) |
N844S |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,073,882 (GRCm39) |
S288L |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,955,180 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
T |
C |
11: 102,202,276 (GRCm39) |
E197G |
possibly damaging |
Het |
| Usp20 |
G |
T |
2: 30,897,825 (GRCm39) |
G216W |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,759,457 (GRCm39) |
V40E |
unknown |
Het |
| Zfp335 |
G |
A |
2: 164,734,505 (GRCm39) |
H1254Y |
possibly damaging |
Het |
|
| Other mutations in Gm10608 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
3-1:Gm10608
|
UTSW |
9 |
118,990,156 (GRCm39) |
unclassified |
probably benign |
|
|
R1053:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R1148:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R1148:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R1167:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R1172:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R1211:Gm10608
|
UTSW |
9 |
118,989,780 (GRCm39) |
frame shift |
probably null |
|
|
R1601:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R1743:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
small deletion |
probably benign |
|
|
R1766:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R1939:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R2016:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
small deletion |
probably benign |
|
|
R2127:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
small deletion |
probably benign |
|
|
R2217:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R2270:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R2372:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
small deletion |
probably benign |
|
|
R2844:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R2959:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R2968:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
small deletion |
probably benign |
|
|
R3084:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R3607:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
small deletion |
probably benign |
|
|
R3702:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R3779:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
small deletion |
probably benign |
|
|
R3839:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R3900:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R3947:Gm10608
|
UTSW |
9 |
118,989,730 (GRCm39) |
small deletion |
probably benign |
|
|
R4015:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
frame shift |
probably null |
|
|
R4024:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
small deletion |
probably benign |
|
|
R5346:Gm10608
|
UTSW |
9 |
118,989,792 (GRCm39) |
frame shift |
probably null |
|
|
R8225:Gm10608
|
UTSW |
9 |
118,989,776 (GRCm39) |
frame shift |
probably null |
|
|
X0065:Gm10608
|
UTSW |
9 |
118,989,931 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATAATGTGACAGGTGCCACAAC -3'
(R):5'- CACAGAAAAGATGCCATTGCCTGC -3'
Sequencing Primer
(F):5'- GTGCCACAACAGGGCAG -3'
(R):5'- TCAGATGGCAAAGCTTCCTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation