Incidental Mutation 'R7637:Gm57858'
| ID |
590000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm57858
|
| Ensembl Gene |
ENSMUSG00000047696 |
| Gene Name |
gene model 57858 |
| Synonyms |
Ccdc144b |
| MMRRC Submission |
045695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7637 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36061396-36107696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36101025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 49
(Q49L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166644]
[ENSMUST00000196964]
[ENSMUST00000200469]
|
| AlphaFold |
E9PVZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166644
AA Change: Q49L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696
AA Change: Q49L
| 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 |
possibly damaging
Transcript: ENSMUST00000196964
AA Change: Q49L
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696
AA Change: Q49L
| 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 damaging
Transcript: ENSMUST00000200469
AA Change: Q49L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696
AA Change: Q49L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,109,778 (GRCm39) |
Q651L |
probably benign |
Het |
| Adam8 |
C |
T |
7: 139,565,343 (GRCm39) |
V624I |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,219,720 (GRCm39) |
K3243R |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,023,789 (GRCm39) |
T1124M |
possibly damaging |
Het |
| Fam8a1 |
A |
T |
13: 46,824,723 (GRCm39) |
M237L |
probably benign |
Het |
| Fars2 |
G |
T |
13: 36,388,758 (GRCm39) |
K82N |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gnat3 |
A |
G |
5: 18,208,770 (GRCm39) |
D158G |
|
Het |
| Grhl2 |
A |
C |
15: 37,328,574 (GRCm39) |
N400T |
probably damaging |
Het |
| Grin2c |
A |
T |
11: 115,147,085 (GRCm39) |
|
probably null |
Het |
| Hipk4 |
A |
G |
7: 27,222,973 (GRCm39) |
Y11C |
probably damaging |
Het |
| Hspa9 |
G |
T |
18: 35,071,740 (GRCm39) |
A620E |
not run |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,083 (GRCm39) |
S29P |
probably benign |
Het |
| Itga8 |
A |
T |
2: 12,113,998 (GRCm39) |
D1039E |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,004,457 (GRCm39) |
D248V |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,520,093 (GRCm39) |
K2006E |
probably damaging |
Het |
| Litafd |
C |
T |
16: 8,501,510 (GRCm39) |
P59L |
unknown |
Het |
| Mdga1 |
C |
T |
17: 30,051,353 (GRCm39) |
G934R |
probably benign |
Het |
| Mov10 |
T |
C |
3: 104,703,201 (GRCm39) |
N896S |
probably benign |
Het |
| Ndufb6 |
A |
T |
4: 40,273,080 (GRCm39) |
|
probably null |
Het |
| Nlk |
T |
C |
11: 78,481,831 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
A |
3: 98,053,939 (GRCm39) |
S2201T |
probably damaging |
Het |
| Or5i1 |
A |
T |
2: 87,613,778 (GRCm39) |
D298V |
probably damaging |
Het |
| Pank1 |
A |
C |
19: 34,799,388 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
C |
8: 46,362,102 (GRCm39) |
F126S |
probably damaging |
Het |
| Pds5a |
C |
A |
5: 65,795,947 (GRCm39) |
G648C |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,055,153 (GRCm39) |
I567V |
unknown |
Het |
| Ppfia2 |
T |
C |
10: 106,701,264 (GRCm39) |
|
probably null |
Het |
| Prl3d1 |
A |
G |
13: 27,284,052 (GRCm39) |
D207G |
probably damaging |
Het |
| Prss23 |
T |
A |
7: 89,159,454 (GRCm39) |
D205V |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,244,569 (GRCm39) |
|
probably null |
Het |
| Qsox2 |
A |
G |
2: 26,111,032 (GRCm39) |
F111S |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,909,413 (GRCm39) |
N95S |
probably benign |
Het |
| Scpep1 |
A |
G |
11: 88,820,046 (GRCm39) |
F414S |
probably damaging |
Het |
| Selenbp1 |
C |
A |
3: 94,844,659 (GRCm39) |
Y105* |
probably null |
Het |
| Sirpa |
A |
G |
2: 129,458,365 (GRCm39) |
D327G |
probably benign |
Het |
| Sowahc |
G |
A |
10: 59,058,005 (GRCm39) |
R47H |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,251,025 (GRCm39) |
Y361C |
probably damaging |
Het |
| Taf3 |
A |
G |
2: 9,945,804 (GRCm39) |
V600A |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,330,175 (GRCm39) |
I1042M |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,325,342 (GRCm39) |
L114Q |
probably damaging |
Het |
| Tmx3 |
A |
G |
18: 90,555,233 (GRCm39) |
T317A |
probably damaging |
Het |
| Tppp3 |
A |
G |
8: 106,194,924 (GRCm39) |
V69A |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,299,267 (GRCm39) |
Y1156H |
probably damaging |
Het |
| Trank1 |
A |
C |
9: 111,194,364 (GRCm39) |
D796A |
possibly damaging |
Het |
| Tsc2 |
G |
A |
17: 24,826,466 (GRCm39) |
P928S |
probably benign |
Het |
| Unc80 |
G |
T |
1: 66,711,843 (GRCm39) |
V2722F |
possibly damaging |
Het |
| Vmn1r199 |
G |
T |
13: 22,566,845 (GRCm39) |
L46F |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,727,513 (GRCm39) |
H196Q |
probably benign |
Het |
| Wnt10a |
T |
A |
1: 74,832,633 (GRCm39) |
C75* |
probably null |
Het |
| Zfp335 |
A |
G |
2: 164,734,459 (GRCm39) |
|
probably null |
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 |
|
R5968:Gm57858
|
UTSW |
3 |
36,064,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TAAGCTGTCCCTGTAACTGCC -3'
(R):5'- GGATGCAAACTCGATTTTCCTC -3'
Sequencing Primer
(F):5'- GGAGCTGACGTCATACCTTACATTG -3'
(R):5'- AAACTCGATTTTCCTCCCCCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation