Incidental Mutation 'R5876:Zc3h6'
| ID |
455515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5876 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128993277 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 111
(S111F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110319]
[ENSMUST00000110320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110319
AA Change: S111F
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851
AA Change: S111F
| 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: S111F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: S111F
| 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: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
A |
G |
18: 52,663,582 |
D64G |
possibly damaging |
Het |
| Ano2 |
T |
A |
6: 126,039,279 |
M925K |
possibly damaging |
Het |
| Arnt2 |
T |
C |
7: 84,347,512 |
T69A |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,212,809 |
N229K |
possibly damaging |
Het |
| Atp13a3 |
T |
A |
16: 30,362,734 |
N23Y |
probably benign |
Het |
| Cbr4 |
G |
A |
8: 61,490,593 |
G91R |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,515,418 |
C624S |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,310,815 |
I201N |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,142,577 |
Y645C |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,413,943 |
V518I |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,912,060 |
T761A |
possibly damaging |
Het |
| Cpne4 |
C |
A |
9: 104,925,770 |
S204R |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,863,650 |
W1279R |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,911,755 |
P1731S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,870,984 |
V892D |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,321,248 |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,491,850 |
D657V |
possibly damaging |
Het |
| Fam83e |
T |
A |
7: 45,722,363 |
|
probably null |
Het |
| Fbxo4 |
A |
T |
15: 3,977,819 |
I121N |
probably damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,968,820 |
S202P |
probably damaging |
Het |
| Gm10471 |
T |
C |
5: 26,084,718 |
E237G |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,663,162 |
I788N |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,688,023 |
N53Y |
probably damaging |
Het |
| Hipk2 |
A |
C |
6: 38,730,867 |
|
probably null |
Het |
| Hps5 |
T |
C |
7: 46,789,196 |
T38A |
probably damaging |
Het |
| Hs1bp3 |
A |
G |
12: 8,341,843 |
D315G |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 118,138,876 |
M985I |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 900,525 |
Y190C |
probably damaging |
Het |
| Krt86 |
T |
C |
15: 101,476,610 |
S295P |
probably damaging |
Het |
| Matr3 |
T |
A |
18: 35,587,738 |
D413E |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,274,645 |
F319L |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,510,910 |
Y411N |
probably damaging |
Het |
| Mpdz |
C |
A |
4: 81,285,474 |
E1863* |
probably null |
Het |
| Mrps9 |
A |
G |
1: 42,895,378 |
E173G |
probably damaging |
Het |
| Olfr8 |
A |
T |
10: 78,955,357 |
I51F |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,821,047 |
T692A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,578,588 |
H3641L |
possibly damaging |
Het |
| Pml |
T |
C |
9: 58,233,182 |
T421A |
possibly damaging |
Het |
| Podxl |
A |
G |
6: 31,528,456 |
|
probably null |
Het |
| Ppargc1b |
C |
G |
18: 61,309,093 |
D591H |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,748,816 |
|
probably benign |
Het |
| Proz |
A |
G |
8: 13,073,448 |
R240G |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,476,960 |
D43E |
probably damaging |
Het |
| Rbm5 |
T |
G |
9: 107,760,326 |
K135N |
probably damaging |
Het |
| Ska1 |
G |
A |
18: 74,197,528 |
T201M |
probably damaging |
Het |
| Slc35f5 |
A |
C |
1: 125,587,363 |
|
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,161,723 |
L510P |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,082,828 |
K1231E |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,922,613 |
S1628P |
possibly damaging |
Het |
| Tm9sf3 |
T |
A |
19: 41,240,584 |
D260V |
probably damaging |
Het |
| Ttc9 |
G |
T |
12: 81,631,622 |
R73L |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,917,061 |
I3684V |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,461,439 |
|
probably null |
Het |
| Vwa3b |
T |
A |
1: 37,076,439 |
I328N |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,530,023 |
V222M |
probably benign |
Het |
| Xpnpep1 |
T |
A |
19: 52,997,008 |
T530S |
probably damaging |
Het |
| Zfp768 |
G |
A |
7: 127,344,546 |
P137S |
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 |
|
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'- ATGTAAGGGTATGCACTAATTTCCTTC -3'
(R):5'- ATGCCCTTGGACACTCCTTT -3'
Sequencing Primer
(F):5'- AATTTCCTTCTTGTGAGTGTGACAC -3'
(R):5'- GCCCTGGAGTTCATAGACAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation