Incidental Mutation 'R5731:C1qtnf6'
| ID |
452782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1qtnf6
|
| Ensembl Gene |
ENSMUSG00000022440 |
| Gene Name |
C1q and tumor necrosis factor related protein 6 |
| Synonyms |
CTRP6, 2810036M19Rik |
| MMRRC Submission |
043192-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5731 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78407546-78415616 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78411514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 54
(M54K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023075]
[ENSMUST00000229185]
[ENSMUST00000230943]
|
| AlphaFold |
Q6IR41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023075
AA Change: M54K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023075
Gene: ENSMUSG00000022440
AA Change: M54K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
104 |
N/A |
INTRINSIC |
|
C1Q
|
123 |
262 |
1.01e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229185
AA Change: M54K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230943
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
G |
8: 33,919,353 (GRCm39) |
I58V |
unknown |
Het |
| Abca4 |
G |
T |
3: 121,926,242 (GRCm39) |
G18V |
probably damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,374 (GRCm39) |
V34A |
possibly damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,104,163 (GRCm39) |
N202I |
possibly damaging |
Het |
| Ccdc62 |
T |
C |
5: 124,089,352 (GRCm39) |
|
probably null |
Het |
| Cd177 |
A |
G |
7: 24,443,846 (GRCm39) |
C751R |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,375,923 (GRCm39) |
I657V |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,095,310 (GRCm39) |
T61A |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,710,471 (GRCm39) |
G553E |
probably benign |
Het |
| Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,614,962 (GRCm39) |
H328R |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 53,008,149 (GRCm39) |
|
probably null |
Het |
| Gm5431 |
A |
G |
11: 48,785,275 (GRCm39) |
Y89H |
probably damaging |
Het |
| Gprin2 |
C |
A |
14: 33,917,397 (GRCm39) |
L124F |
probably damaging |
Het |
| Hacd2 |
T |
A |
16: 34,922,374 (GRCm39) |
Y188N |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,797,726 (GRCm39) |
T950A |
probably benign |
Het |
| Kit |
T |
A |
5: 75,815,075 (GRCm39) |
I933N |
possibly damaging |
Het |
| Klhl11 |
A |
T |
11: 100,354,589 (GRCm39) |
Y411N |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,966,500 (GRCm39) |
S1313P |
probably damaging |
Het |
| Neurog1 |
T |
C |
13: 56,399,354 (GRCm39) |
K131R |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,248 (GRCm39) |
L170P |
probably damaging |
Het |
| Or5d16 |
T |
A |
2: 87,773,771 (GRCm39) |
H67L |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,717,325 (GRCm39) |
D382G |
probably damaging |
Het |
| Pcdh1 |
A |
C |
18: 38,331,651 (GRCm39) |
F590V |
probably damaging |
Het |
| Pcdha5 |
G |
A |
18: 37,093,820 (GRCm39) |
V110M |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,368,284 (GRCm39) |
N261D |
probably benign |
Het |
| Pou4f1 |
T |
C |
14: 104,703,347 (GRCm39) |
T362A |
unknown |
Het |
| Prlr |
A |
G |
15: 10,314,221 (GRCm39) |
T9A |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,478,289 (GRCm39) |
Y245C |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,471,917 (GRCm39) |
D4515V |
probably damaging |
Het |
| Svop |
T |
C |
5: 114,198,124 (GRCm39) |
K149E |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,157 (GRCm39) |
V56A |
probably benign |
Het |
| Tm4sf20 |
T |
G |
1: 82,738,013 (GRCm39) |
I93L |
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,288,111 (GRCm39) |
R19* |
probably null |
Het |
| Vmn2r28 |
G |
T |
7: 5,491,668 (GRCm39) |
T193K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,802,661 (GRCm39) |
D654G |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,644,701 (GRCm39) |
Q1167L |
probably benign |
Het |
|
| Other mutations in C1qtnf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:C1qtnf6
|
APN |
15 |
78,409,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01534:C1qtnf6
|
APN |
15 |
78,409,416 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02072:C1qtnf6
|
APN |
15 |
78,411,551 (GRCm39) |
nonsense |
probably null |
|
|
Santa
|
UTSW |
15 |
78,409,092 (GRCm39) |
splice site |
probably null |
|
|
R1524:C1qtnf6
|
UTSW |
15 |
78,409,092 (GRCm39) |
splice site |
probably null |
|
|
R1720:C1qtnf6
|
UTSW |
15 |
78,411,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2299:C1qtnf6
|
UTSW |
15 |
78,409,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4271:C1qtnf6
|
UTSW |
15 |
78,409,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6118:C1qtnf6
|
UTSW |
15 |
78,409,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7140:C1qtnf6
|
UTSW |
15 |
78,409,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7218:C1qtnf6
|
UTSW |
15 |
78,411,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7317:C1qtnf6
|
UTSW |
15 |
78,409,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:C1qtnf6
|
UTSW |
15 |
78,409,574 (GRCm39) |
missense |
probably benign |
|
|
R7461:C1qtnf6
|
UTSW |
15 |
78,411,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8122:C1qtnf6
|
UTSW |
15 |
78,411,446 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8833:C1qtnf6
|
UTSW |
15 |
78,409,574 (GRCm39) |
missense |
probably benign |
|
|
R9084:C1qtnf6
|
UTSW |
15 |
78,409,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9104:C1qtnf6
|
UTSW |
15 |
78,409,109 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9391:C1qtnf6
|
UTSW |
15 |
78,415,516 (GRCm39) |
missense |
unknown |
|
|
R9444:C1qtnf6
|
UTSW |
15 |
78,411,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9705:C1qtnf6
|
UTSW |
15 |
78,411,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:C1qtnf6
|
UTSW |
15 |
78,409,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGACCTGCCCTGTTTTC -3'
(R):5'- GGGGTGCTGAGACAAATGTATC -3'
Sequencing Primer
(F):5'- AAGACCTGCCCTGTTTTCTTCTG -3'
(R):5'- GGTGCTGAGACAAATGTATCTATCTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation