Incidental Mutation 'R6031:Zc3h6'
| ID |
486253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
4631426G04Rik, 4833425H18Rik |
| MMRRC Submission |
044203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R6031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128809322-128860483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128809732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 3
(D3G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099385]
[ENSMUST00000110319]
[ENSMUST00000110320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099385
|
| SMART Domains |
Protein: ENSMUSP00000096983
Gene: ENSMUSG00000074807
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
105 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110319
AA Change: D3G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851
AA Change: D3G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
coiled coil region
|
30 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110320
AA Change: D3G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: D3G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
coiled coil region
|
30 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
271 |
296 |
1.72e-4 |
SMART |
|
ZnF_C3H1
|
300 |
325 |
2.51e-6 |
SMART |
|
ZnF_C3H1
|
326 |
349 |
5.24e0 |
SMART |
|
coiled coil region
|
351 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
829 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
890 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,084 (GRCm39) |
Y304H |
possibly damaging |
Het |
| Add2 |
A |
G |
6: 86,075,655 (GRCm39) |
E268G |
probably damaging |
Het |
| Akr1b1 |
A |
C |
6: 34,289,609 (GRCm39) |
V67G |
probably benign |
Het |
| Alms1 |
A |
T |
6: 85,599,937 (GRCm39) |
N1588Y |
probably damaging |
Het |
| Arhgap23 |
A |
T |
11: 97,366,965 (GRCm39) |
D1082V |
probably damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,207 (GRCm39) |
V301A |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Atg7 |
T |
A |
6: 114,648,194 (GRCm39) |
C31S |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,208,176 (GRCm39) |
N1105K |
possibly damaging |
Het |
| Ccdc125 |
C |
T |
13: 100,820,877 (GRCm39) |
|
probably null |
Het |
| Ccdc63 |
T |
C |
5: 122,267,799 (GRCm39) |
I56V |
possibly damaging |
Het |
| Cpd |
T |
C |
11: 76,681,714 (GRCm39) |
E1143G |
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,421,556 (GRCm39) |
|
probably null |
Het |
| Creb3l2 |
A |
T |
6: 37,311,369 (GRCm39) |
D473E |
probably benign |
Het |
| Disp2 |
G |
T |
2: 118,620,275 (GRCm39) |
V336L |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,017,106 (GRCm39) |
I782T |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,427 (GRCm39) |
V230A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,899,788 (GRCm39) |
T3082S |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,105,688 (GRCm39) |
Y445H |
probably damaging |
Het |
| Galt |
G |
A |
4: 41,757,202 (GRCm39) |
R185Q |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,520,818 (GRCm39) |
I309T |
possibly damaging |
Het |
| Gfi1b |
G |
A |
2: 28,503,820 (GRCm39) |
Q127* |
probably null |
Het |
| Gfpt1 |
C |
A |
6: 87,063,302 (GRCm39) |
T563N |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,108,608 (GRCm39) |
D237G |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,666,465 (GRCm39) |
V305D |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,859,307 (GRCm39) |
V9A |
probably damaging |
Het |
| Ipo4 |
G |
A |
14: 55,869,596 (GRCm39) |
P355S |
probably damaging |
Het |
| Jade2 |
G |
T |
11: 51,717,413 (GRCm39) |
C314* |
probably null |
Het |
| Kri1 |
T |
C |
9: 21,186,565 (GRCm39) |
E597G |
probably benign |
Het |
| Mcub |
A |
G |
3: 129,720,038 (GRCm39) |
Y152H |
probably damaging |
Het |
| Med23 |
C |
T |
10: 24,779,646 (GRCm39) |
R542* |
probably null |
Het |
| Ndc80 |
T |
C |
17: 71,818,483 (GRCm39) |
N291S |
probably benign |
Het |
| Nop2 |
T |
C |
6: 125,110,529 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
T |
C |
17: 90,896,218 (GRCm39) |
N984S |
probably damaging |
Het |
| Ntm |
A |
C |
9: 28,920,671 (GRCm39) |
L86R |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,661,219 (GRCm39) |
D1847E |
possibly damaging |
Het |
| Odf2l |
A |
G |
3: 144,845,624 (GRCm39) |
Q334R |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,588 (GRCm39) |
|
probably null |
Het |
| Or2ag2 |
C |
T |
7: 106,485,134 (GRCm39) |
V297I |
possibly damaging |
Het |
| Or4a39 |
T |
A |
2: 89,237,316 (GRCm39) |
T36S |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,296 (GRCm39) |
R227G |
probably benign |
Het |
| Or6ae1 |
A |
T |
7: 139,742,722 (GRCm39) |
V47E |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,224 (GRCm39) |
V222A |
probably benign |
Het |
| Pacc1 |
A |
G |
1: 191,073,037 (GRCm39) |
R153G |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,630,776 (GRCm39) |
K190N |
probably damaging |
Het |
| Pdik1l |
A |
G |
4: 134,006,352 (GRCm39) |
F197L |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,464,764 (GRCm39) |
F219L |
probably damaging |
Het |
| Rnf208 |
A |
C |
2: 25,133,776 (GRCm39) |
T157P |
probably damaging |
Het |
| RP23-145I16.3 |
A |
T |
7: 141,930,451 (GRCm39) |
C364S |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,881,865 (GRCm39) |
D644V |
probably damaging |
Het |
| Thbs3 |
T |
A |
3: 89,125,401 (GRCm39) |
C204S |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,565 (GRCm39) |
I444T |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,282,191 (GRCm39) |
I696F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,660,941 (GRCm39) |
V7422D |
possibly damaging |
Het |
| Ufl1 |
A |
G |
4: 25,278,038 (GRCm39) |
V139A |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,308,238 (GRCm39) |
V381D |
probably benign |
Het |
| Vgll3 |
T |
A |
16: 65,636,367 (GRCm39) |
Y173N |
probably damaging |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,158 (GRCm39) |
T78A |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,472,114 (GRCm39) |
L806M |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,895,079 (GRCm39) |
H394Q |
probably benign |
Het |
| Wdr53 |
T |
A |
16: 32,075,536 (GRCm39) |
V247D |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,338,695 (GRCm39) |
L1488Q |
probably damaging |
Het |
| Zfp93 |
G |
T |
7: 23,975,725 (GRCm39) |
C570F |
probably damaging |
Het |
| Zfp943 |
C |
T |
17: 22,212,357 (GRCm39) |
T481I |
probably benign |
Het |
|
| Other mutations in Zc3h6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01732:Zc3h6
|
APN |
2 |
128,853,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01880:Zc3h6
|
APN |
2 |
128,859,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02160:Zc3h6
|
APN |
2 |
128,839,605 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02161:Zc3h6
|
APN |
2 |
128,835,146 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02202:Zc3h6
|
APN |
2 |
128,858,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Zc3h6
|
APN |
2 |
128,857,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02973:Zc3h6
|
APN |
2 |
128,839,715 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB001:Zc3h6
|
UTSW |
2 |
128,857,400 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
BB011:Zc3h6
|
UTSW |
2 |
128,857,400 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0336:Zc3h6
|
UTSW |
2 |
128,857,332 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0420:Zc3h6
|
UTSW |
2 |
128,856,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0538:Zc3h6
|
UTSW |
2 |
128,859,143 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0944:Zc3h6
|
UTSW |
2 |
128,848,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1151:Zc3h6
|
UTSW |
2 |
128,859,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1528:Zc3h6
|
UTSW |
2 |
128,858,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1698:Zc3h6
|
UTSW |
2 |
128,859,278 (GRCm39) |
missense |
probably benign |
|
|
R1712:Zc3h6
|
UTSW |
2 |
128,858,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Zc3h6
|
UTSW |
2 |
128,858,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Zc3h6
|
UTSW |
2 |
128,839,715 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2030:Zc3h6
|
UTSW |
2 |
128,848,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Zc3h6
|
UTSW |
2 |
128,857,538 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2133:Zc3h6
|
UTSW |
2 |
128,809,750 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2273:Zc3h6
|
UTSW |
2 |
128,856,629 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2328:Zc3h6
|
UTSW |
2 |
128,835,122 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2862:Zc3h6
|
UTSW |
2 |
128,857,380 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2899:Zc3h6
|
UTSW |
2 |
128,844,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3711:Zc3h6
|
UTSW |
2 |
128,859,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3743:Zc3h6
|
UTSW |
2 |
128,839,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3893:Zc3h6
|
UTSW |
2 |
128,858,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Zc3h6
|
UTSW |
2 |
128,844,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5025:Zc3h6
|
UTSW |
2 |
128,852,353 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5026:Zc3h6
|
UTSW |
2 |
128,859,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5125:Zc3h6
|
UTSW |
2 |
128,856,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5373:Zc3h6
|
UTSW |
2 |
128,844,076 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5374:Zc3h6
|
UTSW |
2 |
128,844,076 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5703:Zc3h6
|
UTSW |
2 |
128,835,372 (GRCm39) |
intron |
probably benign |
|
|
R5802:Zc3h6
|
UTSW |
2 |
128,857,479 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5876:Zc3h6
|
UTSW |
2 |
128,835,197 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5879:Zc3h6
|
UTSW |
2 |
128,839,696 (GRCm39) |
splice site |
probably null |
|
|
R5950:Zc3h6
|
UTSW |
2 |
128,839,710 (GRCm39) |
nonsense |
probably null |
|
|
R6031:Zc3h6
|
UTSW |
2 |
128,809,732 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6781:Zc3h6
|
UTSW |
2 |
128,857,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7323:Zc3h6
|
UTSW |
2 |
128,835,331 (GRCm39) |
missense |
unknown |
|
|
R7340:Zc3h6
|
UTSW |
2 |
128,835,110 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7572:Zc3h6
|
UTSW |
2 |
128,859,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7576:Zc3h6
|
UTSW |
2 |
128,856,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Zc3h6
|
UTSW |
2 |
128,857,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7924:Zc3h6
|
UTSW |
2 |
128,857,400 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8048:Zc3h6
|
UTSW |
2 |
128,858,934 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8877:Zc3h6
|
UTSW |
2 |
128,856,319 (GRCm39) |
nonsense |
probably null |
|
|
R9076:Zc3h6
|
UTSW |
2 |
128,859,096 (GRCm39) |
nonsense |
probably null |
|
|
R9577:Zc3h6
|
UTSW |
2 |
128,858,102 (GRCm39) |
missense |
|
|
|
R9687:Zc3h6
|
UTSW |
2 |
128,859,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Zc3h6
|
UTSW |
2 |
128,859,155 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Zc3h6
|
UTSW |
2 |
128,858,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTCACTAGTAACCGTGAG -3'
(R):5'- ACTACTGAGCTTTTGGGGC -3'
Sequencing Primer
(F):5'- CACTAGTAACCGTGAGTTTTTACCAC -3'
(R):5'- CTTTTGGGGCCGGTTCCAAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation