Incidental Mutation 'R2862:Zc3h6'
| ID |
252897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
|
| MMRRC Submission |
040452-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R2862 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129015460 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 633
(H633R)
|
| 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: H633R
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: H633R
| 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: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548H24Rik |
G |
A |
5: 31,485,911 (GRCm38) |
|
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,309,057 (GRCm38) |
S2928G |
probably damaging |
Het |
| Abcd1 |
T |
A |
X: 73,737,458 (GRCm38) |
L713H |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,346,801 (GRCm38) |
I52V |
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,981,408 (GRCm38) |
V634E |
probably damaging |
Het |
| Ang |
G |
T |
14: 51,101,818 (GRCm38) |
D139Y |
probably damaging |
Het |
| Apoe |
T |
C |
7: 19,697,554 (GRCm38) |
Y46C |
probably damaging |
Het |
| Aqr |
A |
T |
2: 114,136,917 (GRCm38) |
V539D |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,364,980 (GRCm38) |
V114A |
probably damaging |
Het |
| Cap1 |
A |
T |
4: 122,864,725 (GRCm38) |
S221T |
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,698,090 (GRCm38) |
E392G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm38) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,815,943 (GRCm38) |
|
probably null |
Het |
| Cyp2c38 |
G |
A |
19: 39,460,694 (GRCm38) |
R72W |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 31,284,762 (GRCm38) |
G2199S |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,712,559 (GRCm38) |
E3608G |
probably benign |
Het |
| Ears2 |
A |
T |
7: 122,062,940 (GRCm38) |
L95Q |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,184,964 (GRCm38) |
K482N |
probably damaging |
Het |
| Gata5 |
C |
T |
2: 180,334,336 (GRCm38) |
G12S |
possibly damaging |
Het |
| Gm11938 |
C |
A |
11: 99,603,146 (GRCm38) |
R41L |
probably damaging |
Het |
| Grap2 |
A |
T |
15: 80,647,964 (GRCm38) |
Q260L |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,711,745 (GRCm38) |
S545P |
probably benign |
Het |
| Iglc1 |
T |
C |
16: 19,061,910 (GRCm38) |
|
probably benign |
Het |
| Il18r1 |
T |
C |
1: 40,498,557 (GRCm38) |
V494A |
possibly damaging |
Het |
| Kdf1 |
G |
A |
4: 133,528,541 (GRCm38) |
E190K |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,422,612 (GRCm38) |
Q163* |
probably null |
Het |
| Lama3 |
G |
T |
18: 12,453,750 (GRCm38) |
L723F |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 136,058,946 (GRCm38) |
H22L |
probably benign |
Het |
| Maged1 |
G |
A |
X: 94,538,924 (GRCm38) |
P366S |
probably damaging |
Het |
| Med14 |
A |
G |
X: 12,719,697 (GRCm38) |
I521T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,154,410 (GRCm38) |
K841E |
probably damaging |
Het |
| Mrgbp |
G |
A |
2: 180,583,410 (GRCm38) |
R53Q |
possibly damaging |
Het |
| Mrps18b |
G |
A |
17: 35,910,854 (GRCm38) |
S101L |
probably benign |
Het |
| Mum1l1 |
G |
A |
X: 139,236,680 (GRCm38) |
G656S |
possibly damaging |
Het |
| Nmnat2 |
G |
A |
1: 153,112,425 (GRCm38) |
V267I |
probably benign |
Het |
| Noc2l |
A |
G |
4: 156,237,450 (GRCm38) |
D102G |
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,385,864 (GRCm38) |
E86G |
probably benign |
Het |
| Olfr1214 |
A |
T |
2: 88,987,320 (GRCm38) |
I294K |
probably benign |
Het |
| Olfr231 |
A |
G |
1: 174,117,732 (GRCm38) |
Y95H |
probably damaging |
Het |
| Olfr664 |
A |
G |
7: 104,734,218 (GRCm38) |
F49L |
probably benign |
Het |
| Olfr715b |
T |
A |
7: 107,106,468 (GRCm38) |
H131L |
probably benign |
Het |
| Opn4 |
A |
G |
14: 34,593,828 (GRCm38) |
|
probably null |
Het |
| Pate3 |
T |
A |
9: 35,648,119 (GRCm38) |
M1L |
possibly damaging |
Het |
| Pex2 |
A |
G |
3: 5,561,180 (GRCm38) |
Y190H |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,540,871 (GRCm38) |
T2299P |
probably damaging |
Het |
| Ppp6r3 |
A |
C |
19: 3,521,782 (GRCm38) |
S122R |
possibly damaging |
Het |
| Rnf113a1 |
A |
G |
X: 37,192,083 (GRCm38) |
E231G |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,438,154 (GRCm38) |
L225P |
possibly damaging |
Het |
| Rreb1 |
G |
C |
13: 37,932,453 (GRCm38) |
A1263P |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,682,471 (GRCm38) |
V121A |
possibly damaging |
Het |
| Slc35e4 |
A |
T |
11: 3,912,796 (GRCm38) |
V131D |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,390,136 (GRCm38) |
M145K |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,138,117 (GRCm38) |
I798N |
probably benign |
Het |
| Srgap3 |
A |
T |
6: 112,722,972 (GRCm38) |
F1015Y |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,969,329 (GRCm38) |
Y567C |
probably damaging |
Het |
| Tbc1d8 |
G |
A |
1: 39,402,696 (GRCm38) |
Q272* |
probably null |
Het |
| Tinf2 |
T |
C |
14: 55,680,631 (GRCm38) |
D127G |
probably damaging |
Het |
| Ube2v1 |
G |
A |
2: 167,617,965 (GRCm38) |
P39L |
probably damaging |
Het |
| Vegfd |
A |
G |
X: 164,385,883 (GRCm38) |
E57G |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,750,836 (GRCm38) |
I335N |
probably damaging |
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 |
|
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 |
|
R5876:Zc3h6
|
UTSW |
2 |
128,993,277 (GRCm38) |
missense |
probably benign |
0.29 |
|
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'- TGGTAAGATTACTGATGGAAGCAAC -3'
(R):5'- TCCTTGCTTGATGCTCTATGAG -3'
Sequencing Primer
(F):5'- GCTGGGCTCGAACTCAGAAATC -3'
(R):5'- CTTGATGCTCTATGAGGCTGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation