Incidental Mutation 'R5968:Gm57858'
| ID |
470690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm57858
|
| Ensembl Gene |
ENSMUSG00000047696 |
| Gene Name |
gene model 57858 |
| Synonyms |
Ccdc144b |
| MMRRC Submission |
043249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5968 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
36061396-36107696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36064840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 511
(Q511R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166644]
[ENSMUST00000196964]
[ENSMUST00000200469]
|
| AlphaFold |
E9PVZ3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166644
AA Change: Q511R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696
AA Change: Q511R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
65 |
97 |
N/A |
INTRINSIC |
|
coiled coil region
|
121 |
166 |
N/A |
INTRINSIC |
|
coiled coil region
|
231 |
327 |
N/A |
INTRINSIC |
|
Pfam:DUF3496
|
381 |
488 |
1.6e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196964
|
| SMART Domains |
Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
65 |
97 |
N/A |
INTRINSIC |
|
coiled coil region
|
121 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200469
AA Change: Q511R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696
AA Change: Q511R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
65 |
97 |
N/A |
INTRINSIC |
|
coiled coil region
|
121 |
166 |
N/A |
INTRINSIC |
|
coiled coil region
|
231 |
327 |
N/A |
INTRINSIC |
|
Pfam:DUF3496
|
381 |
488 |
1.6e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,077 (GRCm39) |
T978A |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,116,606 (GRCm39) |
L638P |
probably damaging |
Het |
| Adgrf2 |
A |
G |
17: 43,026,063 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
T |
C |
11: 54,885,167 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,043,945 (GRCm39) |
L668P |
probably damaging |
Het |
| Ces2e |
G |
T |
8: 105,659,627 (GRCm39) |
G498W |
probably damaging |
Het |
| Crb1 |
A |
G |
1: 139,170,739 (GRCm39) |
C823R |
probably damaging |
Het |
| Ehmt1 |
C |
T |
2: 24,726,469 (GRCm39) |
R772H |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,074,587 (GRCm39) |
L721S |
probably benign |
Het |
| Flii |
T |
G |
11: 60,611,038 (GRCm39) |
I464L |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,418,828 (GRCm39) |
E1162G |
probably damaging |
Het |
| Meioc |
A |
G |
11: 102,566,657 (GRCm39) |
S758G |
probably damaging |
Het |
| Ndst1 |
A |
C |
18: 60,846,148 (GRCm39) |
S54A |
probably benign |
Het |
| Ndufaf8 |
G |
T |
11: 119,990,055 (GRCm39) |
E56* |
probably null |
Het |
| Ndufb7 |
A |
G |
8: 84,293,530 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,286,018 (GRCm39) |
M277V |
possibly damaging |
Het |
| Or2a25 |
A |
G |
6: 42,888,480 (GRCm39) |
I8V |
probably benign |
Het |
| Prkg1 |
A |
T |
19: 30,570,324 (GRCm39) |
F443I |
probably damaging |
Het |
| Pspc1 |
C |
T |
14: 57,001,693 (GRCm39) |
R227H |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,677,149 (GRCm39) |
Y120H |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,841,890 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,477,394 (GRCm39) |
D4449G |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,078 (GRCm39) |
A159E |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,226 (GRCm39) |
I360V |
possibly damaging |
Het |
| Tcstv5 |
T |
C |
13: 120,411,618 (GRCm39) |
|
probably benign |
Het |
| Thop1 |
A |
G |
10: 80,911,393 (GRCm39) |
D93G |
probably benign |
Het |
| Tmem92 |
A |
C |
11: 94,669,564 (GRCm39) |
M85R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,688,017 (GRCm39) |
|
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,524,719 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
T |
C |
2: 164,734,314 (GRCm39) |
H1291R |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,451,496 (GRCm39) |
C101Y |
probably damaging |
Het |
|
| Other mutations in Gm57858 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Gm57858
|
APN |
3 |
36,074,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00773:Gm57858
|
APN |
3 |
36,089,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01409:Gm57858
|
APN |
3 |
36,080,077 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01791:Gm57858
|
APN |
3 |
36,089,416 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
|
IGL02307:Gm57858
|
APN |
3 |
36,073,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02374:Gm57858
|
APN |
3 |
36,074,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02673:Gm57858
|
APN |
3 |
36,100,848 (GRCm39) |
splice site |
probably benign |
|
|
IGL02727:Gm57858
|
APN |
3 |
36,087,065 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0355:Gm57858
|
UTSW |
3 |
36,101,054 (GRCm39) |
splice site |
probably benign |
|
|
R0833:Gm57858
|
UTSW |
3 |
36,074,362 (GRCm39) |
splice site |
probably benign |
|
|
R0928:Gm57858
|
UTSW |
3 |
36,079,515 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1595:Gm57858
|
UTSW |
3 |
36,073,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1598:Gm57858
|
UTSW |
3 |
36,073,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2011:Gm57858
|
UTSW |
3 |
36,064,827 (GRCm39) |
nonsense |
probably null |
|
|
R2255:Gm57858
|
UTSW |
3 |
36,074,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2921:Gm57858
|
UTSW |
3 |
36,080,077 (GRCm39) |
missense |
probably null |
0.01 |
|
R4659:Gm57858
|
UTSW |
3 |
36,080,103 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4764:Gm57858
|
UTSW |
3 |
36,064,809 (GRCm39) |
makesense |
probably null |
|
|
R4929:Gm57858
|
UTSW |
3 |
36,089,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5631:Gm57858
|
UTSW |
3 |
36,101,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5755:Gm57858
|
UTSW |
3 |
36,071,842 (GRCm39) |
missense |
probably benign |
|
|
R5849:Gm57858
|
UTSW |
3 |
36,087,026 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5894:Gm57858
|
UTSW |
3 |
36,074,124 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6961:Gm57858
|
UTSW |
3 |
36,104,766 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6963:Gm57858
|
UTSW |
3 |
36,104,811 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7248:Gm57858
|
UTSW |
3 |
36,080,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7380:Gm57858
|
UTSW |
3 |
36,080,070 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7462:Gm57858
|
UTSW |
3 |
36,080,055 (GRCm39) |
splice site |
probably null |
|
|
R7612:Gm57858
|
UTSW |
3 |
36,079,506 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7637:Gm57858
|
UTSW |
3 |
36,101,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8025:Gm57858
|
UTSW |
3 |
36,073,136 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8269:Gm57858
|
UTSW |
3 |
36,100,862 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8707:Gm57858
|
UTSW |
3 |
36,073,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8731:Gm57858
|
UTSW |
3 |
36,089,434 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9047:Gm57858
|
UTSW |
3 |
36,087,033 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9108:Gm57858
|
UTSW |
3 |
36,080,036 (GRCm39) |
makesense |
probably null |
|
|
R9193:Gm57858
|
UTSW |
3 |
36,089,428 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9321:Gm57858
|
UTSW |
3 |
36,073,139 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9447:Gm57858
|
UTSW |
3 |
36,074,195 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9694:Gm57858
|
UTSW |
3 |
36,073,092 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0011:Gm57858
|
UTSW |
3 |
36,080,097 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0057:Gm57858
|
UTSW |
3 |
36,073,050 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Gm57858
|
UTSW |
3 |
36,073,037 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCCCTCCTCTGTGATGAT -3'
(R):5'- CCAACTTCATGCTTTGCCAG -3'
Sequencing Primer
(F):5'- CCTCCTCTGTGATGATACCTTTTATC -3'
(R):5'- GCATAAGAATCCTTCTGGTGGCTAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation