Incidental Mutation 'R4011:C1qtnf1'
| ID |
311704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1qtnf1
|
| Ensembl Gene |
ENSMUSG00000017446 |
| Gene Name |
C1q and tumor necrosis factor related protein 1 |
| Synonyms |
1600017K21Rik, CTRP1 |
| MMRRC Submission |
040948-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
118319029-118340789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118337365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 65
(G65D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017590]
[ENSMUST00000106286]
[ENSMUST00000124861]
[ENSMUST00000133558]
|
| AlphaFold |
Q9QXP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017590
AA Change: G65D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000017590
Gene: ENSMUSG00000017446
AA Change: G65D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
C1Q
|
140 |
278 |
8.4e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106286
AA Change: G65D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101893
Gene: ENSMUSG00000017446
AA Change: G65D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
C1Q
|
140 |
278 |
8.6e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133558
|
| SMART Domains |
Protein: ENSMUSP00000117467
Gene: ENSMUSG00000017446
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142751
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered glucose and lipid homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,572,013 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,794,601 (GRCm39) |
T779A |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,489,810 (GRCm39) |
I200V |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,725,290 (GRCm39) |
M4288L |
probably damaging |
Het |
| F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
| Gas1 |
T |
G |
13: 60,323,791 (GRCm39) |
D322A |
unknown |
Het |
| Gfm2 |
T |
A |
13: 97,279,608 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,938,934 (GRCm39) |
V739L |
probably benign |
Het |
| Hbb-bh2 |
T |
A |
7: 103,489,416 (GRCm39) |
H45L |
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,042,761 (GRCm39) |
V1237A |
probably benign |
Het |
| Kat2b |
G |
A |
17: 53,951,769 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
A |
G |
5: 144,112,697 (GRCm39) |
N1139S |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,130,608 (GRCm39) |
A475T |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,214,468 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
C |
2: 119,762,261 (GRCm39) |
V1084A |
probably damaging |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,047 (GRCm39) |
Y244C |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,926,720 (GRCm39) |
I5V |
probably benign |
Het |
| Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
| Or10ag56 |
A |
G |
2: 87,139,555 (GRCm39) |
I141V |
probably benign |
Het |
| Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
| Or56b1 |
A |
G |
7: 104,285,555 (GRCm39) |
T225A |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or5v1 |
T |
C |
17: 37,810,382 (GRCm39) |
V280A |
possibly damaging |
Het |
| Osmr |
G |
T |
15: 6,854,014 (GRCm39) |
R565S |
probably benign |
Het |
| Pcolce |
G |
T |
5: 137,604,036 (GRCm39) |
Q344K |
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,843,175 (GRCm39) |
F95L |
probably damaging |
Het |
| Psd2 |
C |
T |
18: 36,120,300 (GRCm39) |
T383I |
probably benign |
Het |
| Reg3a |
G |
A |
6: 78,360,553 (GRCm39) |
D164N |
probably damaging |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Sgce |
G |
T |
6: 4,691,563 (GRCm39) |
Y301* |
probably null |
Het |
| Slc28a3 |
T |
C |
13: 58,714,064 (GRCm39) |
K434E |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,244,203 (GRCm39) |
F360L |
probably damaging |
Het |
| Tdpoz3 |
A |
T |
3: 93,733,550 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Trim65 |
A |
G |
11: 116,018,529 (GRCm39) |
F249L |
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,634 (GRCm39) |
L544* |
probably null |
Het |
| Vit |
C |
T |
17: 78,842,121 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,824,637 (GRCm39) |
|
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,739,780 (GRCm39) |
K431E |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,867,278 (GRCm39) |
Y545* |
probably null |
Het |
|
| Other mutations in C1qtnf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01805:C1qtnf1
|
APN |
11 |
118,338,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:C1qtnf1
|
APN |
11 |
118,338,894 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02609:C1qtnf1
|
APN |
11 |
118,338,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:C1qtnf1
|
UTSW |
11 |
118,337,454 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1170:C1qtnf1
|
UTSW |
11 |
118,339,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:C1qtnf1
|
UTSW |
11 |
118,339,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1526:C1qtnf1
|
UTSW |
11 |
118,334,616 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1540:C1qtnf1
|
UTSW |
11 |
118,338,749 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1896:C1qtnf1
|
UTSW |
11 |
118,334,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:C1qtnf1
|
UTSW |
11 |
118,339,110 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2012:C1qtnf1
|
UTSW |
11 |
118,339,110 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2901:C1qtnf1
|
UTSW |
11 |
118,338,930 (GRCm39) |
splice site |
probably null |
|
|
R2902:C1qtnf1
|
UTSW |
11 |
118,338,930 (GRCm39) |
splice site |
probably null |
|
|
R4897:C1qtnf1
|
UTSW |
11 |
118,338,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6335:C1qtnf1
|
UTSW |
11 |
118,338,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:C1qtnf1
|
UTSW |
11 |
118,339,176 (GRCm39) |
makesense |
probably null |
|
|
R8322:C1qtnf1
|
UTSW |
11 |
118,338,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8558:C1qtnf1
|
UTSW |
11 |
118,339,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8679:C1qtnf1
|
UTSW |
11 |
118,337,340 (GRCm39) |
nonsense |
probably null |
|
|
R8920:C1qtnf1
|
UTSW |
11 |
118,339,068 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9289:C1qtnf1
|
UTSW |
11 |
118,334,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0021:C1qtnf1
|
UTSW |
11 |
118,334,606 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:C1qtnf1
|
UTSW |
11 |
118,334,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGACCTCAGAATCCTCC -3'
(R):5'- TGGTAGTGACCCTCCATTCC -3'
Sequencing Primer
(F):5'- TCCCCCATGCCTATGTTAAACAGAG -3'
(R):5'- GTGACCCTCCATTCCTGCTCAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation