Incidental Mutation 'R4954:Zcchc4'
| ID |
381475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc4
|
| Ensembl Gene |
ENSMUSG00000029179 |
| Gene Name |
zinc finger, CCHC domain containing 4 |
| Synonyms |
4930449I23Rik |
| MMRRC Submission |
042551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R4954 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
52932751-52982007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52976559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 451
(H451L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031077]
[ENSMUST00000113904]
|
| AlphaFold |
Q8BKW4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031077
AA Change: H451L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: H451L
| 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 damaging
Transcript: ENSMUST00000113904
AA Change: H451L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
AA Change: H451L
| 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
|
| Meta Mutation Damage Score |
0.8109 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Alk |
C |
T |
17: 72,209,687 (GRCm39) |
W919* |
probably null |
Het |
| Aoc3 |
G |
A |
11: 101,222,925 (GRCm39) |
G387D |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,376,694 (GRCm39) |
C441S |
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,176,008 (GRCm39) |
E100* |
probably null |
Het |
| Ate1 |
C |
T |
7: 130,110,748 (GRCm39) |
G186D |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,919,026 (GRCm39) |
L1948H |
probably damaging |
Het |
| Bmp2k |
C |
T |
5: 97,234,623 (GRCm39) |
|
probably benign |
Het |
| Ccin |
A |
T |
4: 43,985,077 (GRCm39) |
I495F |
probably benign |
Het |
| Cir1 |
T |
A |
2: 73,140,848 (GRCm39) |
E40D |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,765 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
A |
G |
1: 138,981,124 (GRCm39) |
T113A |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,430,322 (GRCm39) |
P79S |
possibly damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,219,645 (GRCm39) |
D99G |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,077,829 (GRCm39) |
I596N |
probably damaging |
Het |
| Eps15 |
G |
A |
4: 109,227,875 (GRCm39) |
|
probably null |
Het |
| Ext1 |
T |
C |
15: 53,207,888 (GRCm39) |
D291G |
probably damaging |
Het |
| Gm12883 |
T |
C |
4: 121,252,198 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9921 |
A |
G |
12: 45,484,383 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T22 |
C |
A |
17: 36,352,851 (GRCm39) |
W85C |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,422,397 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
T |
A |
3: 40,739,832 (GRCm39) |
|
probably null |
Het |
| Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
| Kpna1 |
T |
C |
16: 35,853,696 (GRCm39) |
V442A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Musk |
C |
T |
4: 58,344,222 (GRCm39) |
T285I |
probably damaging |
Het |
| Myorg |
G |
A |
4: 41,498,241 (GRCm39) |
A463V |
possibly damaging |
Het |
| Nbea |
T |
G |
3: 55,943,379 (GRCm39) |
Q632P |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,907,706 (GRCm39) |
V1105A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,067,530 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,061,318 (GRCm39) |
K970* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,917,302 (GRCm39) |
|
probably benign |
Het |
| Or13g1 |
T |
C |
7: 85,955,809 (GRCm39) |
I171V |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,213,318 (GRCm39) |
M259V |
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,414 (GRCm39) |
I94V |
probably damaging |
Het |
| Otos |
T |
C |
1: 92,572,167 (GRCm39) |
Y53C |
probably damaging |
Het |
| Oxct2a |
A |
T |
4: 123,216,252 (GRCm39) |
C376* |
probably null |
Het |
| Pate12 |
A |
T |
9: 36,344,156 (GRCm39) |
K46N |
probably benign |
Het |
| Phf14 |
C |
A |
6: 11,987,619 (GRCm39) |
Q633K |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,700,602 (GRCm39) |
N1778I |
probably damaging |
Het |
| Psmc3 |
C |
T |
2: 90,885,974 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,544,274 (GRCm39) |
I177F |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,539,003 (GRCm39) |
D307G |
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,566,685 (GRCm39) |
V648I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,587,725 (GRCm39) |
V1340M |
possibly damaging |
Het |
| Sema7a |
T |
C |
9: 57,863,663 (GRCm39) |
W279R |
probably damaging |
Het |
| Slc2a10 |
A |
T |
2: 165,356,675 (GRCm39) |
I112F |
probably damaging |
Het |
| Stk4 |
C |
A |
2: 163,993,601 (GRCm39) |
S77R |
possibly damaging |
Het |
| Stk4 |
T |
A |
2: 163,993,602 (GRCm39) |
W78R |
probably damaging |
Het |
| Syf2 |
T |
A |
4: 134,662,283 (GRCm39) |
L99* |
probably null |
Het |
| Tas2r104 |
A |
T |
6: 131,661,968 (GRCm39) |
I247K |
probably damaging |
Het |
| Usp15 |
G |
T |
10: 122,967,303 (GRCm39) |
R368S |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,047,905 (GRCm39) |
L20F |
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 |
|
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 |
|
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'- CCCACAAGGTTTGAAGTACAC -3'
(R):5'- CCTCGGAAATCACACGTAATGG -3'
Sequencing Primer
(F):5'- TCATTCATGATAACCTACCTCAGCAG -3'
(R):5'- GTGAGAGGAACGATTTAGCACTCTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation