Incidental Mutation 'IGL01805:C1qtnf1'
ID |
155647 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
C1qtnf1
|
Ensembl Gene |
ENSMUSG00000017446 |
Gene Name |
C1q and tumor necrosis factor related protein 1 |
Synonyms |
1600017K21Rik, CTRP1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01805
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
118319029-118340789 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118338993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 221
(L221Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017590]
[ENSMUST00000106286]
[ENSMUST00000124861]
[ENSMUST00000133558]
|
AlphaFold |
Q9QXP7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017590
AA Change: L221Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000017590 Gene: ENSMUSG00000017446 AA Change: L221Q
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 damaging
Transcript: ENSMUST00000106286
AA Change: L221Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101893 Gene: ENSMUSG00000017446 AA Change: L221Q
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019D03Rik |
T |
C |
1: 52,964,677 (GRCm39) |
D17G |
possibly damaging |
Het |
Adam28 |
G |
T |
14: 68,879,540 (GRCm39) |
S169R |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,120,672 (GRCm39) |
M855T |
possibly damaging |
Het |
Apc |
C |
A |
18: 34,451,271 (GRCm39) |
N2688K |
probably benign |
Het |
Arhgap23 |
T |
A |
11: 97,383,428 (GRCm39) |
|
probably benign |
Het |
Bpifa6 |
A |
G |
2: 153,826,832 (GRCm39) |
T66A |
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,176,003 (GRCm39) |
|
probably benign |
Het |
Ccl1 |
C |
A |
11: 82,068,958 (GRCm39) |
M26I |
possibly damaging |
Het |
Dnah10 |
T |
A |
5: 124,860,985 (GRCm39) |
F2123I |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,160,635 (GRCm39) |
|
probably null |
Het |
Fstl4 |
C |
A |
11: 53,077,184 (GRCm39) |
A647E |
probably damaging |
Het |
Hmgb4 |
G |
T |
4: 128,154,015 (GRCm39) |
|
probably benign |
Het |
Hr |
A |
T |
14: 70,802,737 (GRCm39) |
|
probably benign |
Het |
Ilrun |
C |
T |
17: 27,986,880 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
G |
T |
2: 107,126,843 (GRCm39) |
V526L |
probably damaging |
Het |
Mas1 |
T |
C |
17: 13,061,117 (GRCm39) |
Y102C |
probably damaging |
Het |
Mucl3 |
T |
A |
17: 35,948,535 (GRCm39) |
T355S |
possibly damaging |
Het |
Mul1 |
C |
T |
4: 138,166,974 (GRCm39) |
P343S |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,023,422 (GRCm39) |
S652G |
probably damaging |
Het |
Or8g55 |
T |
C |
9: 39,785,075 (GRCm39) |
F168S |
probably damaging |
Het |
Pjvk |
A |
T |
2: 76,487,858 (GRCm39) |
N250I |
probably benign |
Het |
Pkd2 |
T |
C |
5: 104,630,959 (GRCm39) |
I461T |
probably benign |
Het |
Psen2 |
T |
C |
1: 180,057,403 (GRCm39) |
|
probably null |
Het |
Ralb |
T |
C |
1: 119,403,725 (GRCm39) |
E81G |
probably benign |
Het |
Slc15a4 |
T |
C |
5: 127,685,900 (GRCm39) |
T261A |
possibly damaging |
Het |
Vmn2r77 |
G |
A |
7: 86,460,395 (GRCm39) |
V574M |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,870,063 (GRCm39) |
I251V |
probably damaging |
Het |
Zfp974 |
G |
A |
7: 27,611,689 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in C1qtnf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R4011:C1qtnf1
|
UTSW |
11 |
118,337,365 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2014-02-04 |