Incidental Mutation 'R1053:Zc2hc1c'
| ID |
94139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc2hc1c
|
| Ensembl Gene |
ENSMUSG00000045064 |
| Gene Name |
zinc finger, C2HC-type containing 1C |
| Synonyms |
2810002I04Rik, Fam164c |
| MMRRC Submission |
039143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R1053 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
85321060-85346132 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85343330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 489
(D489G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040992]
[ENSMUST00000059341]
|
| AlphaFold |
Q8CCG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040992
|
| SMART Domains |
Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
49 |
N/A |
INTRINSIC |
|
S_TKc
|
52 |
308 |
1.07e-73 |
SMART |
|
Pfam:RCC1
|
389 |
441 |
1.2e-9 |
PFAM |
|
Pfam:RCC1_2
|
428 |
457 |
1.5e-8 |
PFAM |
|
Pfam:RCC1
|
444 |
495 |
3.6e-13 |
PFAM |
|
Pfam:RCC1_2
|
482 |
511 |
3.6e-11 |
PFAM |
|
Pfam:RCC1
|
499 |
547 |
7.6e-14 |
PFAM |
|
Pfam:RCC1
|
615 |
665 |
4.2e-8 |
PFAM |
|
Pfam:RCC1_2
|
652 |
681 |
4.4e-7 |
PFAM |
|
low complexity region
|
752 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
927 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059341
AA Change: D489G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051664
Gene: ENSMUSG00000045064
AA Change: D489G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
|
coiled coil region
|
207 |
254 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC_2
|
378 |
402 |
3.6e-10 |
PFAM |
|
low complexity region
|
433 |
444 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC_2
|
489 |
513 |
3.1e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
T |
8: 41,207,768 (GRCm39) |
N345Y |
probably benign |
Het |
| Ampd3 |
G |
A |
7: 110,387,887 (GRCm39) |
G107S |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,448,236 (GRCm39) |
I632N |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,732,577 (GRCm39) |
R83L |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,147,180 (GRCm39) |
L420Q |
probably damaging |
Het |
| Col6a1 |
A |
T |
10: 76,556,800 (GRCm39) |
Y266N |
probably damaging |
Het |
| Ctps1 |
A |
G |
4: 120,400,919 (GRCm39) |
|
probably null |
Het |
| Enam |
A |
G |
5: 88,651,878 (GRCm39) |
N1129S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,773,887 (GRCm39) |
E356G |
probably damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,427,166 (GRCm39) |
V469E |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,748,887 (GRCm39) |
T31A |
unknown |
Het |
| Grm2 |
T |
G |
9: 106,525,356 (GRCm39) |
Y453S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,008,561 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,593 (GRCm39) |
I681V |
possibly damaging |
Het |
| Lair1 |
A |
G |
7: 4,031,784 (GRCm39) |
S108P |
probably damaging |
Het |
| Lrp12 |
A |
C |
15: 39,741,377 (GRCm39) |
F446C |
probably damaging |
Het |
| Ncoa6 |
C |
T |
2: 155,275,960 (GRCm39) |
R95Q |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,005,793 (GRCm39) |
T614A |
probably benign |
Het |
| Or1b1 |
T |
C |
2: 36,995,476 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,166 (GRCm39) |
Y261* |
probably null |
Het |
| Or8b12 |
T |
C |
9: 37,658,131 (GRCm39) |
S234P |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,098,212 (GRCm39) |
S311P |
probably damaging |
Het |
| Rsph3a |
C |
A |
17: 8,164,736 (GRCm39) |
P32Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,902,752 (GRCm39) |
T1602A |
probably benign |
Het |
| Svil |
C |
G |
18: 5,056,690 (GRCm39) |
P521R |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,652,509 (GRCm39) |
Y1580C |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,641,463 (GRCm39) |
F730L |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
|
| Other mutations in Zc2hc1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01763:Zc2hc1c
|
APN |
12 |
85,336,450 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02677:Zc2hc1c
|
APN |
12 |
85,336,850 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1696:Zc2hc1c
|
UTSW |
12 |
85,337,555 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1724:Zc2hc1c
|
UTSW |
12 |
85,336,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1905:Zc2hc1c
|
UTSW |
12 |
85,337,288 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1996:Zc2hc1c
|
UTSW |
12 |
85,343,434 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4463:Zc2hc1c
|
UTSW |
12 |
85,337,071 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4834:Zc2hc1c
|
UTSW |
12 |
85,336,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Zc2hc1c
|
UTSW |
12 |
85,337,288 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5943:Zc2hc1c
|
UTSW |
12 |
85,336,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6184:Zc2hc1c
|
UTSW |
12 |
85,343,218 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6701:Zc2hc1c
|
UTSW |
12 |
85,336,446 (GRCm39) |
splice site |
probably null |
|
|
R6704:Zc2hc1c
|
UTSW |
12 |
85,337,258 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6719:Zc2hc1c
|
UTSW |
12 |
85,337,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Zc2hc1c
|
UTSW |
12 |
85,343,336 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8125:Zc2hc1c
|
UTSW |
12 |
85,343,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Zc2hc1c
|
UTSW |
12 |
85,336,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8268:Zc2hc1c
|
UTSW |
12 |
85,336,595 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8356:Zc2hc1c
|
UTSW |
12 |
85,337,471 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8678:Zc2hc1c
|
UTSW |
12 |
85,337,084 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8875:Zc2hc1c
|
UTSW |
12 |
85,336,549 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9056:Zc2hc1c
|
UTSW |
12 |
85,343,230 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCCATGCTTTGCTCAACAC -3'
(R):5'- TGGTTTACTGCTGAAGGGAAGCAC -3'
Sequencing Primer
(F):5'- GGGCTCAATGTGCCTTTTACAC -3'
(R):5'- AGCACAGCCTGAGTGGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation