Incidental Mutation 'R5879:Zc3h6'
ID |
455697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h6
|
Ensembl Gene |
ENSMUSG00000042851 |
Gene Name |
zinc finger CCCH type containing 6 |
Synonyms |
4631426G04Rik, 4833425H18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R5879 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
128809322-128860483 bp(+) (GRCm39) |
Type of Mutation |
splice site (3646 bp from exon) |
DNA Base Change (assembly) |
A to G
at 128839696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110319]
[ENSMUST00000110320]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 benign
Transcript: ENSMUST00000110320
AA Change: S170G
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105949 Gene: ENSMUSG00000042851 AA Change: S170G
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: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
C |
T |
7: 44,796,930 (GRCm39) |
W66* |
probably null |
Het |
Arhgap39 |
T |
C |
15: 76,636,007 (GRCm39) |
D76G |
probably damaging |
Het |
Arhgef2 |
G |
A |
3: 88,550,924 (GRCm39) |
|
probably null |
Het |
C1qtnf2 |
T |
C |
11: 43,376,835 (GRCm39) |
M99T |
probably damaging |
Het |
Cyren |
A |
G |
6: 34,851,593 (GRCm39) |
L87P |
probably damaging |
Het |
Eml3 |
G |
A |
19: 8,912,379 (GRCm39) |
C392Y |
possibly damaging |
Het |
Ephb4 |
C |
A |
5: 137,358,678 (GRCm39) |
P287Q |
probably benign |
Het |
Fat4 |
G |
T |
3: 38,941,485 (GRCm39) |
R126L |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,271,719 (GRCm39) |
M858V |
probably damaging |
Het |
Gprin3 |
A |
C |
6: 59,331,698 (GRCm39) |
I203R |
probably benign |
Het |
Insr |
G |
T |
8: 3,248,173 (GRCm39) |
Y457* |
probably null |
Het |
Ipo13 |
G |
A |
4: 117,760,400 (GRCm39) |
T649I |
possibly damaging |
Het |
Krba1 |
A |
G |
6: 48,392,678 (GRCm39) |
D818G |
possibly damaging |
Het |
Llgl1 |
G |
A |
11: 60,603,806 (GRCm39) |
G1016R |
probably benign |
Het |
Loxl4 |
A |
G |
19: 42,596,066 (GRCm39) |
V142A |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,340,992 (GRCm39) |
I464V |
probably benign |
Het |
Mycs |
C |
A |
X: 5,380,131 (GRCm39) |
K316N |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,103,839 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
A |
G |
16: 3,781,909 (GRCm39) |
F516S |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,882,743 (GRCm39) |
S540G |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,242 (GRCm39) |
T653S |
probably damaging |
Het |
Or8s16 |
C |
T |
15: 98,211,369 (GRCm39) |
V21I |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,500,685 (GRCm39) |
N1468K |
probably damaging |
Het |
Plbd1 |
A |
G |
6: 136,611,503 (GRCm39) |
I258T |
probably damaging |
Het |
Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
Pramel21 |
A |
T |
4: 143,344,161 (GRCm39) |
Y487F |
possibly damaging |
Het |
Prop1 |
C |
T |
11: 50,844,153 (GRCm39) |
V27M |
probably damaging |
Het |
Rfx4 |
T |
G |
10: 84,650,625 (GRCm39) |
|
probably null |
Het |
Rgs11 |
C |
T |
17: 26,422,437 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
T |
A |
7: 49,595,260 (GRCm39) |
F541I |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,699,807 (GRCm39) |
V1057E |
possibly damaging |
Het |
Synpo2 |
A |
T |
3: 122,907,946 (GRCm39) |
W457R |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,193,721 (GRCm39) |
N238Y |
possibly damaging |
Het |
Tiam2 |
T |
A |
17: 3,487,540 (GRCm39) |
M687K |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,346,438 (GRCm39) |
E1866G |
probably benign |
Het |
Tspan8 |
T |
C |
10: 115,669,156 (GRCm39) |
S64P |
possibly damaging |
Het |
Ugt2b37 |
C |
T |
5: 87,402,265 (GRCm39) |
G122D |
probably benign |
Het |
Uqcrc2 |
A |
G |
7: 120,237,111 (GRCm39) |
E53G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,852,071 (GRCm39) |
D963G |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,764,226 (GRCm39) |
Y368N |
possibly damaging |
Het |
Wdr5 |
A |
G |
2: 27,418,323 (GRCm39) |
T208A |
probably benign |
Het |
Zbtb18 |
A |
G |
1: 177,275,936 (GRCm39) |
Y423C |
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 |
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 |
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'- CCCTAGCATAGACGTATATCAGGAAG -3'
(R):5'- AGGTCTACACGGTACAGAAAC -3'
Sequencing Primer
(F):5'- GACGTATATCAGGAAGTTACATGAC -3'
(R):5'- GAAGCCACAAGAATGAGCTAATTTTG -3'
|
Posted On |
2017-02-10 |