Incidental Mutation 'IGL01088:C1qtnf9'
| ID |
52666 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
C1qtnf9
|
| Ensembl Gene |
ENSMUSG00000071347 |
| Gene Name |
C1q and tumor necrosis factor related protein 9 |
| Synonyms |
9130217G22Rik, CTRP9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
61005583-61018318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61017205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 245
(V245A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025940]
[ENSMUST00000063562]
[ENSMUST00000224635]
[ENSMUST00000225043]
[ENSMUST00000225506]
|
| AlphaFold |
Q4ZJN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025940
AA Change: V245A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000025940
Gene: ENSMUSG00000071347
AA Change: V245A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
23 |
84 |
5.2e-11 |
PFAM |
|
Pfam:Collagen
|
78 |
147 |
4.4e-10 |
PFAM |
|
C1Q
|
195 |
332 |
1.29e-54 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063562
|
| SMART Domains |
Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M3
|
252 |
697 |
5.4e-145 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223709
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225043
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225506
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased caloric intake, increased percent body fat/body weight, obesity, insulin resistance, and hepatic steatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
C |
T |
10: 89,561,703 (GRCm39) |
V148I |
probably damaging |
Het |
| Aspn |
G |
T |
13: 49,720,029 (GRCm39) |
K348N |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,625,823 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,099,431 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,390,381 (GRCm39) |
C187S |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,993 (GRCm39) |
I123M |
possibly damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,175 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,178 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,811 (GRCm39) |
S99P |
probably damaging |
Het |
| Igkv4-79 |
T |
A |
6: 69,020,110 (GRCm39) |
K68N |
probably damaging |
Het |
| Kpna6 |
C |
T |
4: 129,549,276 (GRCm39) |
V169I |
probably damaging |
Het |
| Krit1 |
G |
T |
5: 3,862,844 (GRCm39) |
V278F |
probably damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,914,627 (GRCm39) |
S68P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,078,586 (GRCm39) |
|
probably null |
Het |
| Nfasc |
A |
T |
1: 132,570,514 (GRCm39) |
|
probably benign |
Het |
| Ntsr1 |
T |
C |
2: 180,184,335 (GRCm39) |
F346S |
probably damaging |
Het |
| Or10ak11 |
A |
G |
4: 118,686,989 (GRCm39) |
V216A |
probably benign |
Het |
| Or5b107 |
T |
C |
19: 13,142,735 (GRCm39) |
M119T |
probably damaging |
Het |
| Phox2a |
T |
C |
7: 101,470,942 (GRCm39) |
F145L |
probably damaging |
Het |
| Rbm7 |
A |
G |
9: 48,402,149 (GRCm39) |
V146A |
probably damaging |
Het |
| Sall3 |
A |
T |
18: 81,016,447 (GRCm39) |
Y494N |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,455,004 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
T |
C |
2: 127,112,746 (GRCm39) |
L4P |
probably damaging |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,010 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
G |
A |
4: 12,063,126 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,563 (GRCm39) |
D429E |
possibly damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,985,356 (GRCm39) |
|
probably null |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,252 (GRCm39) |
V159A |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,159 (GRCm39) |
E927G |
probably benign |
Het |
| Zfp820 |
T |
A |
17: 22,040,162 (GRCm39) |
K16* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,381,790 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in C1qtnf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:C1qtnf9
|
APN |
14 |
61,017,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:C1qtnf9
|
APN |
14 |
61,017,388 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0455:C1qtnf9
|
UTSW |
14 |
61,009,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5516:C1qtnf9
|
UTSW |
14 |
61,017,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5834:C1qtnf9
|
UTSW |
14 |
61,016,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5918:C1qtnf9
|
UTSW |
14 |
61,009,737 (GRCm39) |
start gained |
probably benign |
|
|
R6241:C1qtnf9
|
UTSW |
14 |
61,017,069 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6748:C1qtnf9
|
UTSW |
14 |
61,017,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7040:C1qtnf9
|
UTSW |
14 |
61,017,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:C1qtnf9
|
UTSW |
14 |
61,017,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:C1qtnf9
|
UTSW |
14 |
61,017,019 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7659:C1qtnf9
|
UTSW |
14 |
61,009,753 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8691:C1qtnf9
|
UTSW |
14 |
61,017,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation