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 |
|
| MMRRC Submission |
044203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R6031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128967812 bp (GRCm38)
|
| 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: 8,995,252 (GRCm38) |
Y304H |
possibly damaging |
Het |
| Add2 |
A |
G |
6: 86,098,673 (GRCm38) |
E268G |
probably damaging |
Het |
| Akr1b3 |
A |
C |
6: 34,312,674 (GRCm38) |
V67G |
probably benign |
Het |
| Alms1 |
A |
T |
6: 85,622,955 (GRCm38) |
N1588Y |
probably damaging |
Het |
| Arhgap23 |
A |
T |
11: 97,476,139 (GRCm38) |
D1082V |
probably damaging |
Het |
| Asb6 |
A |
G |
2: 30,824,195 (GRCm38) |
V301A |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,842,183 (GRCm38) |
R1991* |
probably null |
Het |
| Atg7 |
T |
A |
6: 114,671,233 (GRCm38) |
C31S |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,280,438 (GRCm38) |
N1105K |
possibly damaging |
Het |
| Ccdc125 |
C |
T |
13: 100,684,369 (GRCm38) |
|
probably null |
Het |
| Ccdc63 |
T |
C |
5: 122,129,736 (GRCm38) |
I56V |
possibly damaging |
Het |
| Cpd |
T |
C |
11: 76,790,888 (GRCm38) |
E1143G |
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,371,556 (GRCm38) |
|
probably null |
Het |
| Creb3l2 |
A |
T |
6: 37,334,434 (GRCm38) |
D473E |
probably benign |
Het |
| Disp2 |
G |
T |
2: 118,789,794 (GRCm38) |
V336L |
probably benign |
Het |
| Efr3b |
A |
G |
12: 3,967,106 (GRCm38) |
I782T |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,539,432 (GRCm38) |
V230A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,988,492 (GRCm38) |
T3082S |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,187,451 (GRCm38) |
Y445H |
probably damaging |
Het |
| Galt |
G |
A |
4: 41,757,202 (GRCm38) |
R185Q |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,613,511 (GRCm38) |
I309T |
possibly damaging |
Het |
| Gfi1b |
G |
A |
2: 28,613,808 (GRCm38) |
Q127* |
probably null |
Het |
| Gfpt1 |
C |
A |
6: 87,086,320 (GRCm38) |
T563N |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,217,782 (GRCm38) |
D237G |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,663,466 (GRCm38) |
V305D |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,561,184 (GRCm38) |
S312F |
probably benign |
Het |
| Iars |
T |
C |
13: 49,705,831 (GRCm38) |
V9A |
probably damaging |
Het |
| Ipo4 |
G |
A |
14: 55,632,139 (GRCm38) |
P355S |
probably damaging |
Het |
| Jade2 |
G |
T |
11: 51,826,586 (GRCm38) |
C314* |
probably null |
Het |
| Kri1 |
T |
C |
9: 21,275,269 (GRCm38) |
E597G |
probably benign |
Het |
| Mcub |
A |
G |
3: 129,926,389 (GRCm38) |
Y152H |
probably damaging |
Het |
| Med23 |
C |
T |
10: 24,903,748 (GRCm38) |
R542* |
probably null |
Het |
| Ndc80 |
T |
C |
17: 71,511,488 (GRCm38) |
N291S |
probably benign |
Het |
| Nop2 |
T |
C |
6: 125,133,566 (GRCm38) |
|
probably null |
Het |
| Nrxn1 |
T |
C |
17: 90,588,790 (GRCm38) |
N984S |
probably damaging |
Het |
| Ntm |
A |
C |
9: 29,009,375 (GRCm38) |
L86R |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 102,012,012 (GRCm38) |
D1847E |
possibly damaging |
Het |
| Odf2l |
A |
G |
3: 145,139,863 (GRCm38) |
Q334R |
probably damaging |
Het |
| Olfr1238 |
T |
A |
2: 89,406,972 (GRCm38) |
T36S |
probably damaging |
Het |
| Olfr1333 |
A |
T |
4: 118,830,391 (GRCm38) |
|
probably null |
Het |
| Olfr199 |
T |
C |
16: 59,215,933 (GRCm38) |
R227G |
probably benign |
Het |
| Olfr522 |
A |
T |
7: 140,162,809 (GRCm38) |
V47E |
possibly damaging |
Het |
| Olfr706 |
C |
T |
7: 106,885,927 (GRCm38) |
V297I |
possibly damaging |
Het |
| Olfr772 |
A |
G |
10: 129,174,355 (GRCm38) |
V222A |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,497,723 (GRCm38) |
K190N |
probably damaging |
Het |
| Pdik1l |
A |
G |
4: 134,279,041 (GRCm38) |
F197L |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,417,990 (GRCm38) |
F219L |
probably damaging |
Het |
| Rnf208 |
A |
C |
2: 25,243,764 (GRCm38) |
T157P |
probably damaging |
Het |
| RP23-145I16.3 |
A |
T |
7: 142,376,714 (GRCm38) |
C364S |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,983,984 (GRCm38) |
D644V |
probably damaging |
Het |
| Thbs3 |
T |
A |
3: 89,218,094 (GRCm38) |
C204S |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,398,528 (GRCm38) |
I444T |
probably damaging |
Het |
| Tmem206 |
A |
G |
1: 191,340,840 (GRCm38) |
R153G |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,354,469 (GRCm38) |
I696F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,830,597 (GRCm38) |
V7422D |
possibly damaging |
Het |
| Ufl1 |
A |
G |
4: 25,278,038 (GRCm38) |
V139A |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,070,826 (GRCm38) |
V381D |
probably benign |
Het |
| Vgll3 |
T |
A |
16: 65,839,481 (GRCm38) |
Y173N |
probably damaging |
Het |
| Vmn1r9 |
A |
G |
6: 57,071,173 (GRCm38) |
T78A |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,471,968 (GRCm38) |
L806M |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 145,168,509 (GRCm38) |
H394Q |
probably benign |
Het |
| Wdr53 |
T |
A |
16: 32,256,718 (GRCm38) |
V247D |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,447,869 (GRCm38) |
L1488Q |
probably damaging |
Het |
| Zfp93 |
G |
T |
7: 24,276,300 (GRCm38) |
C570F |
probably damaging |
Het |
| Zfp943 |
C |
T |
17: 21,993,376 (GRCm38) |
T481I |
probably benign |
Het |
|
| Other mutations in Zc3h6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01732:Zc3h6
|
APN |
2 |
129,011,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01880:Zc3h6
|
APN |
2 |
129,017,378 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02160:Zc3h6
|
APN |
2 |
128,997,685 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02161:Zc3h6
|
APN |
2 |
128,993,226 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02202:Zc3h6
|
APN |
2 |
129,016,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02547:Zc3h6
|
APN |
2 |
129,015,611 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02973:Zc3h6
|
APN |
2 |
128,997,795 (GRCm38) |
missense |
probably damaging |
0.98 |
|
BB001:Zc3h6
|
UTSW |
2 |
129,015,480 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
BB011:Zc3h6
|
UTSW |
2 |
129,015,480 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R0336:Zc3h6
|
UTSW |
2 |
129,015,412 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0420:Zc3h6
|
UTSW |
2 |
129,014,827 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0538:Zc3h6
|
UTSW |
2 |
129,017,223 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0944:Zc3h6
|
UTSW |
2 |
129,006,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1151:Zc3h6
|
UTSW |
2 |
129,017,136 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1528:Zc3h6
|
UTSW |
2 |
129,017,069 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1698:Zc3h6
|
UTSW |
2 |
129,017,358 (GRCm38) |
missense |
probably benign |
|
|
R1712:Zc3h6
|
UTSW |
2 |
129,016,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1913:Zc3h6
|
UTSW |
2 |
129,016,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1926:Zc3h6
|
UTSW |
2 |
128,997,795 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2030:Zc3h6
|
UTSW |
2 |
129,006,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2051:Zc3h6
|
UTSW |
2 |
129,015,618 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R2133:Zc3h6
|
UTSW |
2 |
128,967,830 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R2273:Zc3h6
|
UTSW |
2 |
129,014,709 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2328:Zc3h6
|
UTSW |
2 |
128,993,202 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2862:Zc3h6
|
UTSW |
2 |
129,015,460 (GRCm38) |
missense |
probably benign |
0.43 |
|
R2899:Zc3h6
|
UTSW |
2 |
129,002,232 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3711:Zc3h6
|
UTSW |
2 |
129,017,331 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3743:Zc3h6
|
UTSW |
2 |
128,997,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3893:Zc3h6
|
UTSW |
2 |
129,016,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4748:Zc3h6
|
UTSW |
2 |
129,002,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5025:Zc3h6
|
UTSW |
2 |
129,010,433 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5026:Zc3h6
|
UTSW |
2 |
129,017,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5125:Zc3h6
|
UTSW |
2 |
129,014,479 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5373:Zc3h6
|
UTSW |
2 |
129,002,156 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5374:Zc3h6
|
UTSW |
2 |
129,002,156 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5703:Zc3h6
|
UTSW |
2 |
128,993,452 (GRCm38) |
intron |
probably benign |
|
|
R5802:Zc3h6
|
UTSW |
2 |
129,015,559 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5876:Zc3h6
|
UTSW |
2 |
128,993,277 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5879:Zc3h6
|
UTSW |
2 |
128,997,776 (GRCm38) |
splice site |
probably null |
|
|
R5950:Zc3h6
|
UTSW |
2 |
128,997,790 (GRCm38) |
nonsense |
probably null |
|
|
R6031:Zc3h6
|
UTSW |
2 |
128,967,812 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6781:Zc3h6
|
UTSW |
2 |
129,015,421 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7323:Zc3h6
|
UTSW |
2 |
128,993,411 (GRCm38) |
missense |
unknown |
|
|
R7340:Zc3h6
|
UTSW |
2 |
128,993,190 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7572:Zc3h6
|
UTSW |
2 |
129,017,252 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7576:Zc3h6
|
UTSW |
2 |
129,014,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7797:Zc3h6
|
UTSW |
2 |
129,015,635 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7924:Zc3h6
|
UTSW |
2 |
129,015,480 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8048:Zc3h6
|
UTSW |
2 |
129,017,014 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8877:Zc3h6
|
UTSW |
2 |
129,014,399 (GRCm38) |
nonsense |
probably null |
|
|
R9076:Zc3h6
|
UTSW |
2 |
129,017,176 (GRCm38) |
nonsense |
probably null |
|
|
R9577:Zc3h6
|
UTSW |
2 |
129,016,182 (GRCm38) |
missense |
|
|
|
R9687:Zc3h6
|
UTSW |
2 |
129,017,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9745:Zc3h6
|
UTSW |
2 |
129,017,235 (GRCm38) |
missense |
probably benign |
0.08 |
|
Z1176:Zc3h6
|
UTSW |
2 |
129,016,221 (GRCm38) |
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