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 |