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 |
Incidental Mutation