Incidental Mutation 'R5703:Zc3h6'
| ID |
451781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
4631426G04Rik, 4833425H18Rik |
| MMRRC Submission |
043183-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R5703 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128809322-128860483 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 128835372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110319]
[ENSMUST00000110320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000110319
AA Change: D137G
|
| SMART Domains |
Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851
AA Change: D137G
| 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 |
probably benign
Transcript: ENSMUST00000110320
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
A |
1: 25,459,640 (GRCm39) |
N605I |
probably damaging |
Het |
| Btd |
C |
T |
14: 31,389,004 (GRCm39) |
R242* |
probably null |
Het |
| Cdc42bpg |
A |
G |
19: 6,372,703 (GRCm39) |
D1502G |
possibly damaging |
Het |
| Chst2 |
A |
G |
9: 95,286,985 (GRCm39) |
F454L |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,092 (GRCm39) |
A146T |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,183 (GRCm39) |
S399T |
probably benign |
Het |
| Dspp |
C |
T |
5: 104,324,917 (GRCm39) |
H427Y |
possibly damaging |
Het |
| Dtx4 |
A |
T |
19: 12,459,574 (GRCm39) |
M410K |
possibly damaging |
Het |
| Ecpas |
A |
T |
4: 58,877,171 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
T |
10: 25,317,665 (GRCm39) |
R61W |
probably damaging |
Het |
| Gbp6 |
T |
C |
5: 105,421,147 (GRCm39) |
K553E |
probably benign |
Het |
| Git1 |
CCG |
C |
11: 77,395,494 (GRCm39) |
|
probably null |
Het |
| Gm13199 |
C |
T |
2: 5,867,259 (GRCm39) |
|
probably benign |
Het |
| Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
| Hoxa2 |
G |
T |
6: 52,140,243 (GRCm39) |
Q248K |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,185,577 (GRCm39) |
|
probably null |
Het |
| Krt33b |
T |
C |
11: 99,916,374 (GRCm39) |
T228A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,444,573 (GRCm39) |
E324G |
probably damaging |
Het |
| Map3k20 |
A |
G |
2: 72,232,514 (GRCm39) |
N390S |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,565,757 (GRCm39) |
Y126H |
possibly damaging |
Het |
| Muc4 |
G |
A |
16: 32,555,059 (GRCm39) |
W15* |
probably null |
Het |
| Ndrg2 |
T |
A |
14: 52,147,579 (GRCm39) |
|
probably null |
Het |
| Ntsr1 |
T |
C |
2: 180,142,226 (GRCm39) |
S6P |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,783 (GRCm39) |
I213T |
probably benign |
Het |
| Or5p70 |
G |
A |
7: 107,994,707 (GRCm39) |
V127I |
probably benign |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,753 (GRCm39) |
T225S |
probably benign |
Het |
| Rfng |
C |
A |
11: 120,672,842 (GRCm39) |
V294L |
probably benign |
Het |
| Scml4 |
C |
T |
10: 42,741,566 (GRCm39) |
|
probably benign |
Het |
| Slc5a2 |
A |
G |
7: 127,869,787 (GRCm39) |
I407V |
possibly damaging |
Het |
| Strc |
T |
C |
2: 121,201,295 (GRCm39) |
T1267A |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,341 (GRCm39) |
V566A |
probably damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,394,647 (GRCm39) |
S468P |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,914,626 (GRCm39) |
T2304S |
probably benign |
Het |
| Tirap |
A |
T |
9: 35,100,054 (GRCm39) |
L210Q |
probably damaging |
Het |
| Vav3 |
A |
T |
3: 109,248,557 (GRCm39) |
Q68L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,594 (GRCm39) |
S433N |
probably benign |
Het |
| Wars1 |
A |
T |
12: 108,841,047 (GRCm39) |
Y244N |
probably damaging |
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 |
|
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 |
|
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'- TCCTACAGGGATTATGATGTTCC -3'
(R):5'- ATGAATGCCCTTGGACACTC -3'
Sequencing Primer
(F):5'- CAGGGATTATGATGTTCCATTTTCTC -3'
(R):5'- TCTATGGAAAACAGCCTGGAGTTCC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation