Incidental Mutation 'R1316:C1qtnf12'
ID |
157542 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1qtnf12
|
Ensembl Gene |
ENSMUSG00000023571 |
Gene Name |
C1q and tumor necrosis factor related 12 |
Synonyms |
1110035L05Rik, Fam132a, adipolin, alipolin, C1qdc2 |
MMRRC Submission |
039382-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1316 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
156046775-156051086 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 156050331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 223
(E223K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024338]
|
AlphaFold |
Q8R2Z0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024338
AA Change: E223K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000024338 Gene: ENSMUSG00000023571 AA Change: E223K
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
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cmpk1 |
A |
G |
4: 114,828,487 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,932,619 (GRCm39) |
|
probably null |
Het |
Ears2 |
T |
C |
7: 121,645,905 (GRCm39) |
T337A |
probably benign |
Het |
Erbin |
T |
C |
13: 103,977,742 (GRCm39) |
K605R |
possibly damaging |
Het |
Irs3 |
T |
C |
5: 137,642,703 (GRCm39) |
E245G |
probably damaging |
Het |
Limch1 |
T |
C |
5: 67,156,586 (GRCm39) |
I223T |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,592,816 (GRCm39) |
T3768A |
probably benign |
Het |
Notch4 |
G |
A |
17: 34,786,444 (GRCm39) |
D195N |
probably damaging |
Het |
Or5b109 |
T |
C |
19: 13,211,803 (GRCm39) |
F63S |
probably damaging |
Het |
Or7g25 |
T |
A |
9: 19,160,035 (GRCm39) |
Q220L |
probably benign |
Het |
Or8b12b |
T |
C |
9: 37,684,039 (GRCm39) |
F28S |
possibly damaging |
Het |
Or8u8 |
T |
C |
2: 86,011,709 (GRCm39) |
S249G |
probably benign |
Het |
Podxl2 |
A |
G |
6: 88,826,199 (GRCm39) |
L369P |
probably benign |
Het |
Rnf149 |
A |
G |
1: 39,604,401 (GRCm39) |
*45Q |
probably null |
Het |
Scart2 |
T |
C |
7: 139,879,583 (GRCm39) |
V957A |
probably benign |
Het |
Slc4a11 |
T |
A |
2: 130,528,071 (GRCm39) |
E528V |
probably benign |
Het |
Slc9a1 |
A |
G |
4: 133,149,558 (GRCm39) |
R795G |
possibly damaging |
Het |
Slco6d1 |
A |
T |
1: 98,394,518 (GRCm39) |
M401L |
probably benign |
Het |
Tiparp |
T |
G |
3: 65,460,772 (GRCm39) |
F587C |
probably damaging |
Het |
Vmn2r120 |
T |
C |
17: 57,832,939 (GRCm39) |
Q80R |
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 |
IGL02015:C1qtnf12
|
APN |
4 |
156,047,201 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCAGTCACCTCCTAATTTCCACAG -3'
(R):5'- TTGCTCTCCAGACCTGATACAGCC -3'
Sequencing Primer
(F):5'- TCCTTGGGCCGATTCACAG -3'
(R):5'- TGATACAGCCTCCAGGGAC -3'
|
Posted On |
2014-02-18 |