Incidental Mutation 'R6613:Zc3h12c'
| ID |
523780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h12c
|
| Ensembl Gene |
ENSMUSG00000035164 |
| Gene Name |
zinc finger CCCH type containing 12C |
| Synonyms |
C230027N18Rik |
| MMRRC Submission |
044736-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6613 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
52022644-52079872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52027412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 650
(V650A)
|
| 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: V669A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127603
Gene: ENSMUSG00000035164
AA Change: V669A
| 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 |
noncoding transcript
Transcript: ENSMUST00000184156
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213645
AA Change: V650A
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.0722 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano2 |
G |
A |
6: 125,783,619 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,264,621 (GRCm39) |
I475N |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,939,788 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
G |
8: 120,482,760 (GRCm39) |
L874R |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,044,448 (GRCm39) |
S343R |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,952,539 (GRCm39) |
S1167T |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,205,460 (GRCm39) |
G139S |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,297,191 (GRCm39) |
F317I |
probably benign |
Het |
| Cngb1 |
A |
T |
8: 95,992,638 (GRCm39) |
V199E |
possibly damaging |
Het |
| Dcn |
A |
T |
10: 97,330,902 (GRCm39) |
T79S |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,091,076 (GRCm39) |
D668E |
probably benign |
Het |
| Dnajc28 |
C |
A |
16: 91,413,246 (GRCm39) |
E357* |
probably null |
Het |
| Dock7 |
A |
G |
4: 98,866,197 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Flot1 |
A |
G |
17: 36,136,703 (GRCm39) |
D167G |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
| Hyou1 |
A |
T |
9: 44,293,795 (GRCm39) |
I242F |
probably damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,447 (GRCm39) |
N256S |
probably benign |
Het |
| Kif20b |
C |
T |
19: 34,914,384 (GRCm39) |
Q390* |
probably null |
Het |
| Lhfpl2 |
T |
A |
13: 94,311,003 (GRCm39) |
F91Y |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,722,654 (GRCm39) |
T408I |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,839 (GRCm39) |
N479D |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,539,770 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,077,728 (GRCm39) |
K1733E |
probably damaging |
Het |
| Or5k1 |
C |
A |
16: 58,617,894 (GRCm39) |
C105F |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,455 (GRCm39) |
I287T |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,372,367 (GRCm39) |
V1435A |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,579,722 (GRCm39) |
|
probably null |
Het |
| Scin |
A |
G |
12: 40,129,714 (GRCm39) |
Y360H |
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,246,890 (GRCm39) |
|
probably null |
Het |
| Sgo1 |
A |
G |
17: 53,986,085 (GRCm39) |
S369P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,152,029 (GRCm39) |
C184S |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,424,653 (GRCm39) |
M607T |
possibly damaging |
Het |
| Ssc5d |
C |
T |
7: 4,936,292 (GRCm39) |
P513S |
possibly damaging |
Het |
| Trip10 |
A |
G |
17: 57,562,197 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,220 (GRCm39) |
Q294L |
possibly 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 |
|
R3052:Zc3h12c
|
UTSW |
9 |
52,055,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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'- GCAGATGCATAGCCAAGTGTG -3'
(R):5'- GTATCCAAAATGTGACTCCCCTG -3'
Sequencing Primer
(F):5'- TGTGGAAGAGGACGCTTGG -3'
(R):5'- AAAATGTGACTCCCCTGTTGACG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation