Incidental Mutation 'R2372:Gm10608'
| ID |
248176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10608
|
| Ensembl Gene |
ENSMUSG00000074029 |
| Gene Name |
predicted gene 10608 |
| Synonyms |
EG546165 |
| MMRRC Submission |
040352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R2372 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118991798-118992473 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (4 aa in frame mutation) |
| DNA Base Change (assembly) |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA to CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,226,801 (GRCm39) |
D378G |
possibly damaging |
Het |
| Cpb2 |
T |
G |
14: 75,505,490 (GRCm39) |
V162G |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
| Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
| Eef1d |
G |
A |
15: 75,768,166 (GRCm39) |
R199C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,698,542 (GRCm39) |
N46D |
probably benign |
Het |
| Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
| Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
| Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,796 (GRCm39) |
T347S |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
| N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
| Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
| Rbpj |
T |
C |
5: 53,799,537 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
| Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,876,348 (GRCm39) |
Y90N |
probably damaging |
Het |
| Slc25a45 |
G |
A |
19: 5,934,580 (GRCm39) |
V183I |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
| Sult2a4 |
T |
A |
7: 13,649,225 (GRCm39) |
I194L |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
| Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,819,133 (GRCm39) |
|
probably null |
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 |
|
|
R1023:Gm10608
|
UTSW |
9 |
118,989,784 (GRCm39) |
small deletion |
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 |
|
|
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'- TGTGACAGGTGCCACAACAG -3'
(R):5'- TGCCTCTTCATAGGTCACATG -3'
Sequencing Primer
(F):5'- GTGCCACAACAGGGCAG -3'
(R):5'- TCAGATGGCAAAGCTTCCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation