Incidental Mutation 'R1313:C1qtnf12'
ID |
175052 |
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 |
039379-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1313 (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: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankle1 |
A |
G |
8: 71,859,857 (GRCm39) |
E145G |
possibly damaging |
Het |
Bltp2 |
A |
G |
11: 78,156,498 (GRCm39) |
T226A |
probably benign |
Het |
Cep250 |
C |
T |
2: 155,813,999 (GRCm39) |
A589V |
probably damaging |
Het |
Clhc1 |
A |
G |
11: 29,521,678 (GRCm39) |
I404V |
probably benign |
Het |
Ddi1 |
T |
C |
9: 6,265,769 (GRCm39) |
E200G |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,011,550 (GRCm39) |
S1236P |
probably damaging |
Het |
Dpyd |
G |
T |
3: 118,692,810 (GRCm39) |
|
probably benign |
Het |
Ercc6 |
C |
T |
14: 32,274,677 (GRCm39) |
|
probably benign |
Het |
Gatb |
A |
G |
3: 85,561,133 (GRCm39) |
I550V |
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hnrnpul1 |
G |
T |
7: 25,422,341 (GRCm39) |
|
probably benign |
Het |
Ints1 |
T |
C |
5: 139,748,661 (GRCm39) |
T1049A |
probably benign |
Het |
Lilrb4a |
C |
T |
10: 51,356,832 (GRCm39) |
T6I |
probably benign |
Het |
Mocs1 |
A |
T |
17: 49,761,297 (GRCm39) |
T464S |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,775,955 (GRCm39) |
S816P |
probably damaging |
Het |
Ogfr |
T |
C |
2: 180,236,423 (GRCm39) |
L336P |
probably benign |
Het |
Or5p53 |
A |
T |
7: 107,532,975 (GRCm39) |
M83L |
probably benign |
Het |
Psapl1 |
C |
A |
5: 36,362,610 (GRCm39) |
Q401K |
probably benign |
Het |
Rps26-ps1 |
T |
A |
8: 108,166,089 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
C |
A |
10: 58,907,821 (GRCm39) |
Q450K |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stat1 |
C |
T |
1: 52,195,165 (GRCm39) |
T720I |
probably damaging |
Het |
Vav1 |
G |
A |
17: 57,616,498 (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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCAGTCACCTCCTAATTTCCACAG -3'
(R):5'- TTGCTCTCCAGACCTGATACAGCC -3'
Sequencing Primer
(F):5'- TCCTTGGGCCGATTCACAG -3'
(R):5'- TGATACAGCCTCCAGGGAC -3'
|
Posted On |
2014-04-24 |