Incidental Mutation 'R5833:C1qtnf3'
| ID |
449424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1qtnf3
|
| Ensembl Gene |
ENSMUSG00000058914 |
| Gene Name |
C1q and tumor necrosis factor related protein 3 |
| Synonyms |
CTRP3, CORS-26, 2310005P21Rik, Corcs |
| MMRRC Submission |
043221-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5833 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
10952418-10980236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10975716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 247
(D247G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022853]
[ENSMUST00000110523]
|
| AlphaFold |
Q9ES30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022853
AA Change: D174G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000022853
Gene: ENSMUSG00000058914
AA Change: D174G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
93 |
N/A |
INTRINSIC |
|
C1Q
|
111 |
245 |
2.26e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110523
AA Change: D247G
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000106152
Gene: ENSMUSG00000058914
AA Change: D247G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
166 |
N/A |
INTRINSIC |
|
C1Q
|
184 |
318 |
2.26e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 95.7%
- 20x: 84.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to collagen-induced arthritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcb4 |
T |
C |
5: 9,008,314 (GRCm39) |
Y1161H |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,886,722 (GRCm39) |
M276L |
probably benign |
Het |
| Adi1 |
A |
G |
12: 28,731,041 (GRCm39) |
D166G |
probably benign |
Het |
| Arhgap44 |
T |
G |
11: 64,929,503 (GRCm39) |
E267A |
probably damaging |
Het |
| Arl11 |
T |
A |
14: 61,548,511 (GRCm39) |
L107Q |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,949,647 (GRCm39) |
D1481G |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,245,326 (GRCm39) |
F242L |
probably damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,855,922 (GRCm39) |
K298E |
probably benign |
Het |
| Dcaf5 |
A |
G |
12: 80,395,203 (GRCm39) |
V322A |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,832,265 (GRCm39) |
N175S |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,744,379 (GRCm39) |
M21K |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,729,838 (GRCm39) |
D55G |
probably damaging |
Het |
| Gm5157 |
A |
G |
7: 20,919,318 (GRCm39) |
M75T |
possibly damaging |
Het |
| Gm6309 |
A |
G |
5: 146,105,128 (GRCm39) |
S262P |
probably damaging |
Het |
| Gpnmb |
T |
C |
6: 49,020,952 (GRCm39) |
L82P |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Itpripl2 |
A |
C |
7: 118,089,194 (GRCm39) |
V455G |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,549,287 (GRCm39) |
V1087A |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,172,647 (GRCm39) |
D1801G |
possibly damaging |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,495,875 (GRCm39) |
Y570* |
probably null |
Het |
| Osbpl1a |
G |
T |
18: 12,921,419 (GRCm39) |
N128K |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,155 (GRCm39) |
H178Q |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,218,989 (GRCm39) |
F214Y |
probably damaging |
Het |
| Qki |
A |
T |
17: 10,435,316 (GRCm39) |
L236H |
probably damaging |
Het |
| Rexo2 |
G |
T |
9: 48,380,171 (GRCm39) |
D220E |
probably benign |
Het |
| Rras |
A |
G |
7: 44,670,715 (GRCm39) |
E195G |
possibly damaging |
Het |
| Serpinb11 |
T |
C |
1: 107,305,392 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,339,352 (GRCm39) |
M430K |
possibly damaging |
Het |
| Tardbp |
A |
C |
4: 148,702,117 (GRCm39) |
V86G |
probably damaging |
Het |
| Trim43c |
A |
G |
9: 88,725,090 (GRCm39) |
Q203R |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,133,913 (GRCm39) |
L229P |
probably damaging |
Het |
|
| Other mutations in C1qtnf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01361:C1qtnf3
|
APN |
15 |
10,960,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:C1qtnf3
|
APN |
15 |
10,972,067 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
mimosa_pudica
|
UTSW |
15 |
10,958,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0083:C1qtnf3
|
UTSW |
15 |
10,975,718 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1136:C1qtnf3
|
UTSW |
15 |
10,978,670 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1447:C1qtnf3
|
UTSW |
15 |
10,952,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:C1qtnf3
|
UTSW |
15 |
10,975,722 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4536:C1qtnf3
|
UTSW |
15 |
10,972,113 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5397:C1qtnf3
|
UTSW |
15 |
10,978,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6483:C1qtnf3
|
UTSW |
15 |
10,958,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6555:C1qtnf3
|
UTSW |
15 |
10,975,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7324:C1qtnf3
|
UTSW |
15 |
10,952,707 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7456:C1qtnf3
|
UTSW |
15 |
10,972,137 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7772:C1qtnf3
|
UTSW |
15 |
10,958,130 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8765:C1qtnf3
|
UTSW |
15 |
10,952,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9281:C1qtnf3
|
UTSW |
15 |
10,978,607 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9608:C1qtnf3
|
UTSW |
15 |
10,952,568 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCCTTTCTGTGCTCCAG -3'
(R):5'- ACAGGAGTTCTCATGACGAAC -3'
Sequencing Primer
(F):5'- ATCATCTTGGCTAACATTTGTGG -3'
(R):5'- GGAGTTCTCATGACGAACAAAACTGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation