Incidental Mutation 'R2273:Zc3h6'
| ID |
242629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
4631426G04Rik, 4833425H18Rik |
| MMRRC Submission |
040273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R2273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128809322-128860483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128856629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 570
(Y570H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110320
AA Change: Y570H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: Y570H
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,667 (GRCm39) |
C59S |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,166,107 (GRCm39) |
N1556K |
possibly damaging |
Het |
| Ackr1 |
T |
C |
1: 173,160,052 (GRCm39) |
N156D |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,786,772 (GRCm39) |
|
probably null |
Het |
| Arhgef7 |
T |
A |
8: 11,865,010 (GRCm39) |
F374Y |
possibly damaging |
Het |
| Atp11b |
A |
G |
3: 35,882,762 (GRCm39) |
I606V |
probably benign |
Het |
| Atp6v1h |
T |
A |
1: 5,187,699 (GRCm39) |
D222E |
probably damaging |
Het |
| Bco1 |
G |
A |
8: 117,835,522 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
T |
A |
11: 94,306,762 (GRCm39) |
E1842V |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,145,986 (GRCm39) |
Q73L |
probably damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,268,601 (GRCm39) |
E1200K |
probably damaging |
Het |
| Cdr2 |
A |
T |
7: 120,557,732 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Cecr2 |
C |
T |
6: 120,733,702 (GRCm39) |
S563L |
probably benign |
Het |
| Cfh |
C |
T |
1: 140,030,563 (GRCm39) |
V824M |
probably damaging |
Het |
| Ciapin1 |
A |
T |
8: 95,558,415 (GRCm39) |
V99E |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cpxm2 |
TGCAGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAGCAG |
7: 131,661,581 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,662,608 (GRCm39) |
|
probably null |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
| Dnlz |
A |
T |
2: 26,241,483 (GRCm39) |
C82S |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,705,184 (GRCm39) |
D119G |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,558 (GRCm39) |
T4465A |
probably benign |
Het |
| Fdxacb1 |
A |
G |
9: 50,683,321 (GRCm39) |
E428G |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,653,102 (GRCm39) |
G1296R |
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,749,070 (GRCm39) |
S92G |
unknown |
Het |
| Gpr158 |
A |
T |
2: 21,831,674 (GRCm39) |
M925L |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,008,187 (GRCm39) |
M1595T |
probably benign |
Het |
| Hoxd1 |
A |
G |
2: 74,594,501 (GRCm39) |
K252R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,726,393 (GRCm39) |
K684E |
possibly damaging |
Het |
| Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,077,226 (GRCm39) |
N343D |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,696,327 (GRCm39) |
V652D |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,585,124 (GRCm39) |
D840E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,892,696 (GRCm39) |
S318P |
probably damaging |
Het |
| Map1b |
A |
C |
13: 99,568,592 (GRCm39) |
D1376E |
unknown |
Het |
| Marchf1 |
T |
A |
8: 66,840,151 (GRCm39) |
N311K |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,368 (GRCm39) |
I321V |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,330,183 (GRCm39) |
R1264Q |
probably damaging |
Het |
| Nrarp |
T |
C |
2: 25,071,421 (GRCm39) |
V100A |
possibly damaging |
Het |
| Nt5c1a |
T |
C |
4: 123,109,873 (GRCm39) |
F324S |
probably damaging |
Het |
| Odad2 |
C |
A |
18: 7,223,676 (GRCm39) |
G456W |
probably benign |
Het |
| Or2t44 |
T |
C |
11: 58,677,492 (GRCm39) |
V144A |
probably benign |
Het |
| Or5d41 |
A |
G |
2: 88,055,167 (GRCm39) |
F70L |
probably benign |
Het |
| Or5g29 |
G |
T |
2: 85,420,932 (GRCm39) |
G16V |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdhb4 |
C |
T |
18: 37,441,979 (GRCm39) |
L430F |
probably damaging |
Het |
| Ptpn2 |
T |
G |
18: 67,810,872 (GRCm39) |
M256L |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,111,367 (GRCm39) |
R71H |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,295 (GRCm39) |
D148V |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc12a3 |
T |
A |
8: 95,059,915 (GRCm39) |
I187N |
possibly damaging |
Het |
| Slc46a1 |
T |
G |
11: 78,357,249 (GRCm39) |
S101A |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,209,364 (GRCm39) |
|
probably null |
Het |
| Sult1d1 |
T |
G |
5: 87,703,887 (GRCm39) |
N266T |
probably damaging |
Het |
| Tjp2 |
G |
T |
19: 24,090,171 (GRCm39) |
H624N |
probably benign |
Het |
| Tmcc3 |
G |
A |
10: 94,414,777 (GRCm39) |
V160I |
probably damaging |
Het |
| Tsr1 |
A |
T |
11: 74,795,653 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
A |
T |
4: 80,755,771 (GRCm39) |
E180V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,846,685 (GRCm39) |
V1636A |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,818,079 (GRCm39) |
L139P |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,225,415 (GRCm39) |
T859S |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,593 (GRCm39) |
M273L |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,565 (GRCm39) |
S645G |
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 |
|
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 |
|
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'- AACCCATCTTTGCTACCCAG -3'
(R):5'- CTAGTGACCACATTGAACTTCTAAG -3'
Sequencing Primer
(F):5'- CAGTTCATCTGAAATTGTAGGCCC -3'
(R):5'- TCCACAGAGTGAGTTCCAGGAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation