Incidental Mutation 'R5755:Zcchc4'
| ID |
444994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc4
|
| Ensembl Gene |
ENSMUSG00000029179 |
| Gene Name |
zinc finger, CCHC domain containing 4 |
| Synonyms |
4930449I23Rik |
| MMRRC Submission |
043202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R5755 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
52932751-52982007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52973511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 379
(S379P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031077]
[ENSMUST00000113904]
|
| AlphaFold |
Q8BKW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031077
AA Change: S379P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: S379P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-GRF
|
37 |
81 |
2.9e-19 |
PFAM |
|
Pfam:N6-adenineMlase
|
168 |
337 |
5.1e-11 |
PFAM |
|
ZnF_C2HC
|
442 |
458 |
1.27e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113901
|
| SMART Domains |
Protein: ENSMUSP00000109534
Gene: ENSMUSG00000029179
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2HC
|
226 |
242 |
1.27e-2 |
SMART |
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113904
AA Change: S379P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
AA Change: S379P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-GRF
|
37 |
81 |
2.4e-17 |
PFAM |
|
Pfam:N6-adenineMlase
|
168 |
338 |
7.1e-11 |
PFAM |
|
ZnF_C2HC
|
442 |
458 |
1.27e-2 |
SMART |
|
low complexity region
|
464 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149612
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,617,428 (GRCm39) |
F1042I |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,096 (GRCm39) |
T127A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,575 (GRCm39) |
I233V |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,350 (GRCm39) |
|
probably null |
Het |
| Atp2b1 |
A |
G |
10: 98,839,032 (GRCm39) |
E39G |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,830,671 (GRCm39) |
|
probably null |
Het |
| Camsap2 |
C |
T |
1: 136,210,065 (GRCm39) |
G476R |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,591 (GRCm39) |
|
probably null |
Het |
| Dcaf12 |
T |
C |
4: 41,313,356 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,754,520 (GRCm39) |
S445T |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,127,214 (GRCm39) |
M109T |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,599,678 (GRCm39) |
E133G |
possibly damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,878 (GRCm39) |
F320L |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,657,773 (GRCm39) |
V801A |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,071,842 (GRCm39) |
M501K |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,930,610 (GRCm39) |
N674Y |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,161 (GRCm39) |
E225G |
possibly damaging |
Het |
| Klhl11 |
T |
A |
11: 100,355,177 (GRCm39) |
M215L |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,761,527 (GRCm39) |
P608T |
unknown |
Het |
| Map3k19 |
T |
C |
1: 127,750,118 (GRCm39) |
M1078V |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,517,219 (GRCm39) |
V512A |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,363,704 (GRCm39) |
D910G |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,557 (GRCm39) |
N84I |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,695 (GRCm39) |
I250K |
probably damaging |
Het |
| Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
A |
T |
3: 94,901,608 (GRCm39) |
|
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,492 (GRCm39) |
K233R |
possibly damaging |
Het |
| Polr1h |
T |
A |
17: 37,269,049 (GRCm39) |
D43V |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,831,940 (GRCm39) |
D587A |
probably benign |
Het |
| Slc7a10 |
A |
T |
7: 34,898,336 (GRCm39) |
I336F |
probably damaging |
Het |
| Snx8 |
T |
G |
5: 140,338,796 (GRCm39) |
E254A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,725 (GRCm39) |
|
silent |
Het |
| Sp8 |
G |
T |
12: 118,812,822 (GRCm39) |
A226S |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,184,341 (GRCm39) |
Q628K |
probably benign |
Het |
| Styx |
C |
A |
14: 45,605,910 (GRCm39) |
T138K |
probably benign |
Het |
| Syngr3 |
A |
G |
17: 24,905,509 (GRCm39) |
F155S |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,187,406 (GRCm39) |
T3825A |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,955 (GRCm39) |
T580S |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,821,076 (GRCm39) |
S724R |
probably benign |
Het |
|
| Other mutations in Zcchc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Zcchc4
|
APN |
5 |
52,973,511 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00953:Zcchc4
|
APN |
5 |
52,965,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01860:Zcchc4
|
APN |
5 |
52,965,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02248:Zcchc4
|
APN |
5 |
52,953,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02536:Zcchc4
|
APN |
5 |
52,965,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Zcchc4
|
UTSW |
5 |
52,964,420 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0060:Zcchc4
|
UTSW |
5 |
52,964,420 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0573:Zcchc4
|
UTSW |
5 |
52,953,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0634:Zcchc4
|
UTSW |
5 |
52,940,550 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1353:Zcchc4
|
UTSW |
5 |
52,964,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1791:Zcchc4
|
UTSW |
5 |
52,953,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Zcchc4
|
UTSW |
5 |
52,973,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Zcchc4
|
UTSW |
5 |
52,953,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2696:Zcchc4
|
UTSW |
5 |
52,953,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2991:Zcchc4
|
UTSW |
5 |
52,961,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Zcchc4
|
UTSW |
5 |
52,941,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4523:Zcchc4
|
UTSW |
5 |
52,941,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Zcchc4
|
UTSW |
5 |
52,953,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4772:Zcchc4
|
UTSW |
5 |
52,953,549 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4905:Zcchc4
|
UTSW |
5 |
52,953,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Zcchc4
|
UTSW |
5 |
52,976,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Zcchc4
|
UTSW |
5 |
52,953,952 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5371:Zcchc4
|
UTSW |
5 |
52,942,512 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5401:Zcchc4
|
UTSW |
5 |
52,964,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6110:Zcchc4
|
UTSW |
5 |
52,953,486 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6244:Zcchc4
|
UTSW |
5 |
52,940,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6465:Zcchc4
|
UTSW |
5 |
52,976,618 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6906:Zcchc4
|
UTSW |
5 |
52,980,976 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7019:Zcchc4
|
UTSW |
5 |
52,941,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7363:Zcchc4
|
UTSW |
5 |
52,942,510 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7643:Zcchc4
|
UTSW |
5 |
52,965,635 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8097:Zcchc4
|
UTSW |
5 |
52,953,333 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8158:Zcchc4
|
UTSW |
5 |
52,973,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Zcchc4
|
UTSW |
5 |
52,953,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8545:Zcchc4
|
UTSW |
5 |
52,976,741 (GRCm39) |
intron |
probably benign |
|
|
R8755:Zcchc4
|
UTSW |
5 |
52,976,724 (GRCm39) |
missense |
unknown |
|
|
R9414:Zcchc4
|
UTSW |
5 |
52,953,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9530:Zcchc4
|
UTSW |
5 |
52,953,568 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCAAATACTGAATCATGTGGTTC -3'
(R):5'- AGATTCCTTTTAAAAGCCTGCTG -3'
Sequencing Primer
(F):5'- GGTTCTTATATTACCCTCAGATTTGG -3'
(R):5'- CCTTTTAAAAGCCTGCTGAATTTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation