Incidental Mutation 'IGL02015:C1qtnf12'
| ID |
183720 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
C1qtnf12
|
| Ensembl Gene |
ENSMUSG00000023571 |
| Gene Name |
C1q and tumor necrosis factor related 12 |
| Synonyms |
1110035L05Rik, Fam132a, adipolin, alipolin, C1qdc2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
156046775-156051086 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 156047201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024056]
[ENSMUST00000024338]
[ENSMUST00000166489]
|
| AlphaFold |
Q8R2Z0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024056
|
| SMART Domains |
Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
27 |
181 |
3.22e-31 |
SMART |
|
low complexity region
|
218 |
234 |
N/A |
INTRINSIC |
|
Blast:UBCc
|
235 |
270 |
7e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024338
|
| SMART Domains |
Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
118 |
N/A |
INTRINSIC |
|
Blast:TNF
|
168 |
305 |
1e-17 |
BLAST |
|
SCOP:d1gr3a_
|
192 |
306 |
2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149558
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166489
|
| SMART Domains |
Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286
| Domain | Start | End | E-Value | Type |
|---|
|
UBCc
|
15 |
169 |
3.22e-31 |
SMART |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
Blast:UBCc
|
223 |
258 |
7e-6 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9l |
C |
A |
9: 44,420,098 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,060,749 (GRCm39) |
Y1382H |
probably damaging |
Het |
| Fut1 |
A |
T |
7: 45,268,399 (GRCm39) |
M118L |
probably damaging |
Het |
| Fzd5 |
A |
T |
1: 64,775,501 (GRCm39) |
C87S |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,684,439 (GRCm39) |
V361A |
possibly damaging |
Het |
| Inpp4a |
T |
G |
1: 37,428,793 (GRCm39) |
F700V |
probably damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,753,782 (GRCm39) |
Q22L |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,357,922 (GRCm39) |
Q369L |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,624,570 (GRCm39) |
Q2117* |
probably null |
Het |
| Naip2 |
A |
T |
13: 100,298,115 (GRCm39) |
S640R |
possibly damaging |
Het |
| Nt5e |
T |
C |
9: 88,249,290 (GRCm39) |
I408T |
probably damaging |
Het |
| Or10ab5 |
T |
A |
7: 108,245,220 (GRCm39) |
N188Y |
probably damaging |
Het |
| Or51h5 |
G |
A |
7: 102,577,399 (GRCm39) |
R188H |
probably benign |
Het |
| Or8d2 |
T |
C |
9: 38,760,090 (GRCm39) |
S227P |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,319,433 (GRCm39) |
L590P |
probably damaging |
Het |
| Ppp1r35 |
T |
C |
5: 137,778,293 (GRCm39) |
|
probably benign |
Het |
| Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
| Ptprg |
A |
T |
14: 12,237,782 (GRCm38) |
N1413I |
possibly damaging |
Het |
| Ranbp10 |
C |
A |
8: 106,506,622 (GRCm39) |
G233C |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,371 (GRCm39) |
|
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,055,734 (GRCm39) |
S108G |
unknown |
Het |
| Scn10a |
C |
T |
9: 119,494,017 (GRCm39) |
V430M |
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
| Skint2 |
C |
T |
4: 112,481,325 (GRCm39) |
R63* |
probably null |
Het |
| Slc35b4 |
A |
T |
6: 34,147,483 (GRCm39) |
V35D |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,692,833 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Susd1 |
G |
A |
4: 59,315,745 (GRCm39) |
T689I |
possibly damaging |
Het |
| Tbx21 |
T |
C |
11: 96,989,740 (GRCm39) |
D484G |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,268,721 (GRCm39) |
|
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,219,174 (GRCm39) |
N242S |
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,937,072 (GRCm39) |
Y790H |
probably damaging |
Het |
| Xiap |
T |
A |
X: 41,185,487 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in C1qtnf12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01796:C1qtnf12
|
APN |
4 |
156,050,886 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01832:C1qtnf12
|
APN |
4 |
156,050,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:C1qtnf12
|
APN |
4 |
156,050,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1313:C1qtnf12
|
UTSW |
4 |
156,050,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1313:C1qtnf12
|
UTSW |
4 |
156,050,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1315:C1qtnf12
|
UTSW |
4 |
156,050,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1316:C1qtnf12
|
UTSW |
4 |
156,050,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1412:C1qtnf12
|
UTSW |
4 |
156,047,190 (GRCm39) |
missense |
probably benign |
|
|
R1487:C1qtnf12
|
UTSW |
4 |
156,050,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1828:C1qtnf12
|
UTSW |
4 |
156,050,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2146:C1qtnf12
|
UTSW |
4 |
156,050,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2147:C1qtnf12
|
UTSW |
4 |
156,050,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2148:C1qtnf12
|
UTSW |
4 |
156,050,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2150:C1qtnf12
|
UTSW |
4 |
156,050,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3786:C1qtnf12
|
UTSW |
4 |
156,050,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6859:C1qtnf12
|
UTSW |
4 |
156,050,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7252:C1qtnf12
|
UTSW |
4 |
156,047,072 (GRCm39) |
missense |
unknown |
|
|
R8251:C1qtnf12
|
UTSW |
4 |
156,050,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8946:C1qtnf12
|
UTSW |
4 |
156,050,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:C1qtnf12
|
UTSW |
4 |
156,049,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:C1qtnf12
|
UTSW |
4 |
156,050,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation