Incidental Mutation 'R3743:Zc3h6'
ID |
270435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h6
|
Ensembl Gene |
ENSMUSG00000042851 |
Gene Name |
zinc finger CCCH type containing 6 |
Synonyms |
4631426G04Rik, 4833425H18Rik |
MMRRC Submission |
040729-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R3743 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
128809322-128860483 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128839712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 175
(Y175C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110319]
[ENSMUST00000110320]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110319
|
SMART Domains |
Protein: ENSMUSP00000105948 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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110320
AA Change: Y175C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105949 Gene: ENSMUSG00000042851 AA Change: Y175C
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 |
|
Meta Mutation Damage Score |
0.3728 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
A |
G |
4: 137,182,348 (GRCm39) |
R168G |
probably damaging |
Het |
1700030K09Rik |
A |
G |
8: 73,199,013 (GRCm39) |
H140R |
probably benign |
Het |
Adamts10 |
A |
G |
17: 33,747,686 (GRCm39) |
I41V |
probably damaging |
Het |
Arnt |
T |
C |
3: 95,382,016 (GRCm39) |
V198A |
possibly damaging |
Het |
Atg3 |
A |
G |
16: 44,998,591 (GRCm39) |
|
probably null |
Het |
Atmin |
T |
C |
8: 117,683,312 (GRCm39) |
V324A |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,914,843 (GRCm39) |
R464C |
probably damaging |
Het |
Ccr7 |
G |
T |
11: 99,036,033 (GRCm39) |
S296R |
possibly damaging |
Het |
Cdh12 |
T |
A |
15: 21,537,745 (GRCm39) |
S415R |
probably damaging |
Het |
Cep162 |
A |
T |
9: 87,099,230 (GRCm39) |
|
probably benign |
Het |
Chd3 |
G |
A |
11: 69,254,876 (GRCm39) |
R61* |
probably null |
Het |
Cr2 |
A |
G |
1: 194,832,274 (GRCm39) |
|
probably benign |
Het |
Csf1r |
T |
C |
18: 61,247,846 (GRCm39) |
S305P |
probably benign |
Het |
Cyp4a31 |
A |
C |
4: 115,423,716 (GRCm39) |
Q140P |
possibly damaging |
Het |
Dhx40 |
A |
T |
11: 86,661,985 (GRCm39) |
W691R |
probably damaging |
Het |
Dlgap1 |
G |
A |
17: 71,025,221 (GRCm39) |
|
probably null |
Het |
Entr1 |
A |
G |
2: 26,278,655 (GRCm39) |
|
probably benign |
Het |
Exoc5 |
T |
C |
14: 49,251,806 (GRCm39) |
I582V |
probably benign |
Het |
Exoc5 |
A |
T |
14: 49,270,864 (GRCm39) |
L387* |
probably null |
Het |
Fbxw8 |
A |
G |
5: 118,251,704 (GRCm39) |
S270P |
probably damaging |
Het |
Fgf14 |
C |
A |
14: 124,914,032 (GRCm39) |
G33V |
probably benign |
Het |
Hoxd9 |
T |
A |
2: 74,528,710 (GRCm39) |
V104E |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,233,546 (GRCm39) |
H1729R |
possibly damaging |
Het |
Irf8 |
C |
T |
8: 121,480,310 (GRCm39) |
R274C |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,894,496 (GRCm39) |
M1350I |
probably damaging |
Het |
Lrrn4 |
A |
G |
2: 132,711,786 (GRCm39) |
|
probably null |
Het |
Map3k6 |
C |
T |
4: 132,972,384 (GRCm39) |
T320I |
probably benign |
Het |
Morc2a |
A |
G |
11: 3,633,700 (GRCm39) |
E604G |
possibly damaging |
Het |
Mtmr6 |
T |
C |
14: 60,537,747 (GRCm39) |
I582T |
probably benign |
Het |
Ninl |
A |
G |
2: 150,792,168 (GRCm39) |
V785A |
probably benign |
Het |
Obscn |
T |
C |
11: 58,969,911 (GRCm39) |
E77G |
probably damaging |
Het |
Or2b11 |
T |
C |
11: 59,462,335 (GRCm39) |
Y77C |
probably damaging |
Het |
Or2n1 |
T |
G |
17: 38,486,793 (GRCm39) |
F273V |
probably damaging |
Het |
Or4f61 |
A |
G |
2: 111,922,965 (GRCm39) |
L27P |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,429,470 (GRCm39) |
D124G |
probably damaging |
Het |
Pfkl |
G |
A |
10: 77,832,179 (GRCm39) |
T304M |
probably damaging |
Het |
Ppil4 |
T |
A |
10: 7,696,935 (GRCm39) |
S483T |
unknown |
Het |
Slc7a10 |
C |
T |
7: 34,898,325 (GRCm39) |
T332I |
probably damaging |
Het |
Spats2 |
T |
C |
15: 99,108,795 (GRCm39) |
S382P |
probably benign |
Het |
Stpg1 |
T |
A |
4: 135,242,197 (GRCm39) |
D70E |
probably benign |
Het |
Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
Trpv1 |
A |
T |
11: 73,145,128 (GRCm39) |
D430V |
probably damaging |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
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 |
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 |
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'- GACGTATATCAGGAAGTTACATGAC -3'
(R):5'- TAGGCTCAAGGTCTACACGG -3'
Sequencing Primer
(F):5'- ATCAGGAAGTTACATGACATCAAAG -3'
(R):5'- GCTCAAGGTCTACACGGTACAG -3'
|
Posted On |
2015-03-18 |