Incidental Mutation 'R5125:Zc3h6'
| ID |
393482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
|
| MMRRC Submission |
042713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5125 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129014479 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 493
(H493R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110320
AA Change: H493R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: H493R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135186
|
| Meta Mutation Damage Score |
0.0665 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,422,649 (GRCm38) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 105,696,889 (GRCm38) |
G1207V |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,171,029 (GRCm38) |
Y308C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,456,877 (GRCm38) |
F683L |
probably benign |
Het |
| Denr |
A |
T |
5: 123,927,081 (GRCm38) |
I166F |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 112,932,600 (GRCm38) |
S155A |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,397,503 (GRCm38) |
G405E |
probably damaging |
Het |
| Ei24 |
T |
A |
9: 36,782,446 (GRCm38) |
|
probably benign |
Het |
| Exo5 |
A |
T |
4: 120,921,537 (GRCm38) |
|
probably null |
Het |
| Gm15922 |
T |
A |
7: 3,739,397 (GRCm38) |
K44* |
probably null |
Het |
| Gm7356 |
T |
C |
17: 14,001,314 (GRCm38) |
D151G |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,296,827 (GRCm38) |
|
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,923,299 (GRCm38) |
V195M |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 15,086,172 (GRCm38) |
K399N |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,984,157 (GRCm38) |
R447W |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,284,381 (GRCm38) |
V4520A |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,010,489 (GRCm38) |
T82I |
possibly damaging |
Het |
| Lmx1a |
C |
T |
1: 167,830,687 (GRCm38) |
S213L |
possibly damaging |
Het |
| Ly6g6d |
A |
G |
17: 35,074,442 (GRCm38) |
I8T |
possibly damaging |
Het |
| Mcm4 |
T |
A |
16: 15,635,303 (GRCm38) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,607,326 (GRCm38) |
D60E |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,267,214 (GRCm38) |
G1851D |
possibly damaging |
Het |
| Olfr156 |
T |
A |
4: 43,820,480 (GRCm38) |
I294F |
probably benign |
Het |
| Olfr868 |
T |
A |
9: 20,101,192 (GRCm38) |
C144* |
probably null |
Het |
| P2rx2 |
G |
A |
5: 110,342,651 (GRCm38) |
T66I |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,584,080 (GRCm38) |
E1197G |
probably damaging |
Het |
| Ppwd1 |
A |
T |
13: 104,220,435 (GRCm38) |
S191T |
probably benign |
Het |
| Rbm39 |
A |
T |
2: 156,162,865 (GRCm38) |
M184K |
probably damaging |
Het |
| Reln |
A |
G |
5: 21,913,241 (GRCm38) |
V2935A |
possibly damaging |
Het |
| Robo4 |
T |
C |
9: 37,407,960 (GRCm38) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,661,872 (GRCm38) |
D603G |
possibly damaging |
Het |
| Sh3rf3 |
C |
G |
10: 59,131,190 (GRCm38) |
P785A |
probably benign |
Het |
| Slc22a26 |
T |
C |
19: 7,790,175 (GRCm38) |
T289A |
possibly damaging |
Het |
| Slc24a3 |
T |
C |
2: 145,518,847 (GRCm38) |
V120A |
possibly damaging |
Het |
| Sost |
C |
T |
11: 101,963,941 (GRCm38) |
G181R |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,955,838 (GRCm38) |
F554L |
probably benign |
Het |
| Stim2 |
T |
C |
5: 54,110,597 (GRCm38) |
S87P |
probably damaging |
Het |
| Tcrg-C4 |
A |
G |
13: 19,344,762 (GRCm38) |
|
probably benign |
Het |
| Tecta |
T |
C |
9: 42,375,185 (GRCm38) |
D725G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,342,992 (GRCm38) |
M900V |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,411,812 (GRCm38) |
M407T |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 13,131,865 (GRCm38) |
A165E |
possibly damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,074,775 (GRCm38) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,637,645 (GRCm38) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,612,501 (GRCm38) |
|
probably null |
Het |
| Zhx1 |
C |
G |
15: 58,054,074 (GRCm38) |
G259R |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 167,046,939 (GRCm38) |
V783E |
possibly damaging |
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 |
|
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 |
|
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'- CATTTTGAACTGAAAATTGCTGGG -3'
(R):5'- TTTCACCGAGTGTCCTGGAAAG -3'
Sequencing Primer
(F):5'- AACTGAAAATTGCTGGGTTTTGTTC -3'
(R):5'- AGTGTCCTGGAAAGCCCGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation