Incidental Mutation 'R3052:Zc3h12c'
| ID |
264995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h12c
|
| Ensembl Gene |
ENSMUSG00000035164 |
| Gene Name |
zinc finger CCCH type containing 12C |
| Synonyms |
C230027N18Rik |
| MMRRC Submission |
040561-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3052 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
52022644-52079872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52055356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 132
(L132Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165519]
[ENSMUST00000213645]
|
| AlphaFold |
Q5DTV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165519
AA Change: L151Q
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000127603
Gene: ENSMUSG00000035164
AA Change: L151Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
121 |
N/A |
INTRINSIC |
|
Pfam:RNase_Zc3h12a
|
264 |
420 |
1.6e-67 |
PFAM |
|
low complexity region
|
644 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
758 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213645
AA Change: L132Q
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Ampd2 |
C |
T |
3: 107,993,803 (GRCm39) |
|
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,686,179 (GRCm39) |
E668G |
probably benign |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| B430306N03Rik |
T |
C |
17: 48,623,938 (GRCm39) |
S80P |
probably damaging |
Het |
| Banp |
G |
A |
8: 122,732,426 (GRCm39) |
|
probably null |
Het |
| Capn2 |
G |
A |
1: 182,315,337 (GRCm39) |
T306M |
probably benign |
Het |
| Ccpg1 |
A |
T |
9: 72,913,150 (GRCm39) |
S229C |
probably damaging |
Het |
| Cep250 |
G |
T |
2: 155,832,968 (GRCm39) |
S1630I |
probably damaging |
Het |
| Ces1g |
C |
A |
8: 94,061,676 (GRCm39) |
V77L |
possibly damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,729,852 (GRCm39) |
H1211L |
possibly damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Gm10384 |
A |
G |
15: 36,871,996 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
C |
1: 59,672,299 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
C |
T |
14: 57,668,025 (GRCm39) |
P9S |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,845,635 (GRCm39) |
L172P |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,739,613 (GRCm39) |
I119F |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,462,153 (GRCm39) |
E1428G |
possibly damaging |
Het |
| Or12e7 |
C |
A |
2: 87,288,247 (GRCm39) |
T246K |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,820 (GRCm39) |
D124G |
possibly damaging |
Het |
| Ppp3ca |
T |
G |
3: 136,503,605 (GRCm39) |
S59R |
probably benign |
Het |
| Rsu1 |
A |
G |
2: 13,174,946 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,033,370 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Sc5d |
G |
T |
9: 42,166,866 (GRCm39) |
N224K |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt3a1 |
G |
T |
15: 9,365,374 (GRCm39) |
W329L |
probably damaging |
Het |
| Unk |
T |
C |
11: 115,940,949 (GRCm39) |
Y237H |
probably benign |
Het |
| Vcam1 |
A |
C |
3: 115,918,079 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
|
| Other mutations in Zc3h12c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Zc3h12c
|
APN |
9 |
52,027,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01288:Zc3h12c
|
APN |
9 |
52,028,951 (GRCm39) |
splice site |
probably benign |
|
|
IGL01993:Zc3h12c
|
APN |
9 |
52,027,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Zc3h12c
|
UTSW |
9 |
52,055,047 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0035:Zc3h12c
|
UTSW |
9 |
52,055,047 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0131:Zc3h12c
|
UTSW |
9 |
52,037,923 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0240:Zc3h12c
|
UTSW |
9 |
52,055,383 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0240:Zc3h12c
|
UTSW |
9 |
52,055,383 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1762:Zc3h12c
|
UTSW |
9 |
52,027,081 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2101:Zc3h12c
|
UTSW |
9 |
52,027,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3689:Zc3h12c
|
UTSW |
9 |
52,027,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4163:Zc3h12c
|
UTSW |
9 |
52,026,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Zc3h12c
|
UTSW |
9 |
52,055,728 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4803:Zc3h12c
|
UTSW |
9 |
52,027,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Zc3h12c
|
UTSW |
9 |
52,028,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5153:Zc3h12c
|
UTSW |
9 |
52,037,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Zc3h12c
|
UTSW |
9 |
52,037,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Zc3h12c
|
UTSW |
9 |
52,027,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6613:Zc3h12c
|
UTSW |
9 |
52,027,412 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7097:Zc3h12c
|
UTSW |
9 |
52,027,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7460:Zc3h12c
|
UTSW |
9 |
52,055,402 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7867:Zc3h12c
|
UTSW |
9 |
52,055,248 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8711:Zc3h12c
|
UTSW |
9 |
52,037,858 (GRCm39) |
splice site |
probably benign |
|
|
R9170:Zc3h12c
|
UTSW |
9 |
52,027,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9345:Zc3h12c
|
UTSW |
9 |
52,028,010 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9748:Zc3h12c
|
UTSW |
9 |
52,055,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACCAAGTTTGTTTAGCACAAGC -3'
(R):5'- TGACCCACAGATGAGTGCAG -3'
Sequencing Primer
(F):5'- AGCTGGACCTGTTCTTCAGAATAACC -3'
(R):5'- CCTTGGCCTATGGTAGAGAAACC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation