Incidental Mutation 'R6465:Zcchc4'
| ID |
517768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc4
|
| Ensembl Gene |
ENSMUSG00000029179 |
| Gene Name |
zinc finger, CCHC domain containing 4 |
| Synonyms |
4930449I23Rik |
| MMRRC Submission |
044598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R6465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
52932751-52982007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52976618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 471
(F471I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031077]
[ENSMUST00000113904]
|
| AlphaFold |
Q8BKW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031077
AA Change: F471I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: F471I
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
A |
6: 128,518,041 (GRCm39) |
T1415I |
probably damaging |
Het |
| Acvr2b |
T |
A |
9: 119,262,369 (GRCm39) |
W461R |
probably damaging |
Het |
| Adam23 |
G |
T |
1: 63,605,827 (GRCm39) |
C637F |
probably damaging |
Het |
| Apol8 |
T |
G |
15: 77,634,148 (GRCm39) |
T143P |
probably benign |
Het |
| Bfsp1 |
A |
C |
2: 143,699,975 (GRCm39) |
|
probably null |
Het |
| Cytl1 |
T |
C |
5: 37,895,014 (GRCm39) |
V99A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,453,413 (GRCm39) |
V793E |
probably damaging |
Het |
| Fxyd5 |
G |
T |
7: 30,737,305 (GRCm39) |
T81K |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,972,151 (GRCm39) |
Y364C |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,745,194 (GRCm39) |
M291K |
probably benign |
Het |
| Haghl |
T |
C |
17: 26,002,793 (GRCm39) |
N190S |
possibly damaging |
Het |
| Inpp5j |
C |
A |
11: 3,452,293 (GRCm39) |
R319L |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,260,188 (GRCm39) |
N304S |
probably benign |
Het |
| Isoc1 |
T |
A |
18: 58,804,328 (GRCm39) |
C119S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,257,988 (GRCm39) |
M414T |
probably benign |
Het |
| Krtap2-4 |
A |
G |
11: 99,505,585 (GRCm39) |
|
probably benign |
Het |
| Krtap3-1 |
G |
A |
11: 99,457,277 (GRCm39) |
P45S |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,711,887 (GRCm39) |
V1754A |
possibly damaging |
Het |
| Nedd4l |
T |
A |
18: 65,288,335 (GRCm39) |
D119E |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,929 (GRCm39) |
V548A |
probably benign |
Het |
| Or5m12 |
A |
T |
2: 85,734,883 (GRCm39) |
S172T |
probably benign |
Het |
| Or6b6 |
A |
T |
7: 106,571,419 (GRCm39) |
V44E |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,213,141 (GRCm39) |
D127G |
probably damaging |
Het |
| Pate13 |
A |
T |
9: 35,819,921 (GRCm39) |
N25Y |
possibly damaging |
Het |
| Piezo2 |
T |
A |
18: 63,174,734 (GRCm39) |
M2007L |
possibly damaging |
Het |
| Pou2f3 |
A |
C |
9: 43,051,162 (GRCm39) |
F175V |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,233,209 (GRCm39) |
I958T |
probably damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,835,951 (GRCm39) |
V464A |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,468,582 (GRCm39) |
Y982H |
probably damaging |
Het |
| Rad17 |
T |
A |
13: 100,773,588 (GRCm39) |
N202I |
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,977,733 (GRCm39) |
D271E |
possibly damaging |
Het |
| Sos2 |
T |
C |
12: 69,643,549 (GRCm39) |
S943G |
probably benign |
Het |
| Tdpoz6 |
A |
G |
3: 93,600,303 (GRCm39) |
I22T |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,378,619 (GRCm39) |
H241R |
probably benign |
Het |
| Ttc8 |
A |
G |
12: 98,930,829 (GRCm39) |
E291G |
probably damaging |
Het |
| Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,096,576 (GRCm39) |
D1219E |
probably damaging |
Het |
| Zc3hav1 |
T |
C |
6: 38,308,784 (GRCm39) |
Y586C |
possibly damaging |
Het |
| Zfp719 |
C |
A |
7: 43,240,108 (GRCm39) |
Y565* |
probably null |
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 |
|
R5755:Zcchc4
|
UTSW |
5 |
52,973,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- AACCTCTTCTGAAACTTGGGTTTTC -3'
(R):5'- GTCCTGTGTGAAAGCTGTCAAG -3'
Sequencing Primer
(F):5'- GAAACTTGGGTTTTCTTTTACAGCC -3'
(R):5'- AAGCTGTCAAGGCAGGACTCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation