Incidental Mutation 'R8048:Zc3h6'
| ID |
618856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
|
| MMRRC Submission |
067485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R8048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129017014 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 988
(S988R)
|
| 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: S988R
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: S988R
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,410,844 (GRCm38) |
L318F |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,641,334 (GRCm38) |
S2318R |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,052,883 (GRCm38) |
T443I |
probably benign |
Het |
| Arhgap29 |
C |
T |
3: 121,992,901 (GRCm38) |
R372W |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,688,638 (GRCm38) |
I1266T |
probably benign |
Het |
| Bsg |
T |
C |
10: 79,709,746 (GRCm38) |
V164A |
probably benign |
Het |
| C1qa |
G |
T |
4: 136,896,610 (GRCm38) |
S94R |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,838,863 (GRCm38) |
V92A |
probably benign |
Het |
| Ccdc187 |
T |
A |
2: 26,293,514 (GRCm38) |
D158V |
possibly damaging |
Het |
| Cngb1 |
T |
A |
8: 95,263,210 (GRCm38) |
Y758F |
possibly damaging |
Het |
| Ddx4 |
G |
A |
13: 112,622,172 (GRCm38) |
A285V |
probably null |
Het |
| Dsg1c |
A |
T |
18: 20,274,767 (GRCm38) |
K390M |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,190,636 (GRCm38) |
F2437L |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,729,149 (GRCm38) |
|
probably benign |
Het |
| Fam227a |
CATTGTCTTGA |
CA |
15: 79,649,758 (GRCm38) |
|
probably null |
Het |
| Fez2 |
T |
C |
17: 78,387,053 (GRCm38) |
I303V |
probably benign |
Het |
| Ffar1 |
A |
T |
7: 30,860,578 (GRCm38) |
I298N |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,595,478 (GRCm38) |
V228I |
probably benign |
Het |
| Igkv1-117 |
T |
G |
6: 68,121,802 (GRCm38) |
C112G |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
| Ivl |
T |
A |
3: 92,571,924 (GRCm38) |
K278M |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,687,645 (GRCm38) |
T2589A |
probably benign |
Het |
| Madd |
A |
T |
2: 91,154,448 (GRCm38) |
M1359K |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,764,918 (GRCm38) |
T1283A |
probably benign |
Het |
| Ncapd2 |
G |
T |
6: 125,179,698 (GRCm38) |
C439* |
probably null |
Het |
| Nebl |
T |
C |
2: 17,424,522 (GRCm38) |
D266G |
probably benign |
Het |
| Oas1f |
A |
T |
5: 120,848,416 (GRCm38) |
Q144L |
possibly damaging |
Het |
| Oas1f |
G |
T |
5: 120,847,537 (GRCm38) |
G49V |
probably damaging |
Het |
| Olfr1032 |
T |
G |
2: 86,008,180 (GRCm38) |
S135A |
probably damaging |
Het |
| Olfr1052 |
C |
T |
2: 86,298,328 (GRCm38) |
P171S |
probably benign |
Het |
| Olfr1062 |
T |
A |
2: 86,423,307 (GRCm38) |
Y123F |
probably damaging |
Het |
| Olfr134 |
T |
C |
17: 38,175,528 (GRCm38) |
V148A |
probably benign |
Het |
| Olfr141 |
T |
A |
2: 86,806,171 (GRCm38) |
Y276F |
probably damaging |
Het |
| Olfr1440 |
A |
G |
19: 12,394,355 (GRCm38) |
I31V |
not run |
Het |
| Olfr324 |
A |
G |
11: 58,597,407 (GRCm38) |
I6V |
unknown |
Het |
| Olfr711 |
C |
T |
7: 106,972,464 (GRCm38) |
|
probably benign |
Het |
| Olfr740 |
T |
C |
14: 50,453,916 (GRCm38) |
L288P |
possibly damaging |
Het |
| Olfr917 |
C |
T |
9: 38,665,812 (GRCm38) |
E11K |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,153,989 (GRCm38) |
V217E |
probably damaging |
Het |
| Pcdha2 |
T |
A |
18: 36,939,460 (GRCm38) |
I48N |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,303,127 (GRCm38) |
F1248L |
|
Het |
| Plekha2 |
A |
T |
8: 25,063,989 (GRCm38) |
|
probably benign |
Het |
| Plpp4 |
C |
T |
7: 129,379,477 (GRCm38) |
R151C |
unknown |
Het |
| Pramef17 |
T |
A |
4: 143,991,607 (GRCm38) |
Y422F |
probably benign |
Het |
| Prdm16 |
A |
G |
4: 154,320,882 (GRCm38) |
L1245P |
probably damaging |
Het |
| Prob1 |
G |
A |
18: 35,653,551 (GRCm38) |
A550V |
probably benign |
Het |
| Prok1 |
T |
C |
3: 107,237,092 (GRCm38) |
H65R |
probably benign |
Het |
| Ptcd1 |
A |
G |
5: 145,155,077 (GRCm38) |
V404A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,315,082 (GRCm38) |
E1631G |
probably benign |
Het |
| Sdad1 |
C |
A |
5: 92,300,089 (GRCm38) |
K262N |
probably benign |
Het |
| Sh3bp1 |
G |
T |
15: 78,910,072 (GRCm38) |
A547S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,628,559 (GRCm38) |
D227G |
probably benign |
Het |
| Tbx1 |
A |
G |
16: 18,588,019 (GRCm38) |
M1T |
probably null |
Het |
| Tespa1 |
T |
A |
10: 130,347,339 (GRCm38) |
V51D |
probably damaging |
Het |
| Tmc7 |
T |
C |
7: 118,566,245 (GRCm38) |
N82S |
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,689,476 (GRCm38) |
D290G |
possibly damaging |
Het |
| Trbv13-2 |
A |
T |
6: 41,121,559 (GRCm38) |
T23S |
probably damaging |
Het |
| Trib3 |
A |
T |
2: 152,338,633 (GRCm38) |
D213E |
probably damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,183,500 (GRCm38) |
V178A |
probably benign |
Het |
| Virma |
T |
A |
4: 11,539,918 (GRCm38) |
C1412* |
probably null |
Het |
| Vmn2r108 |
T |
C |
17: 20,471,500 (GRCm38) |
T254A |
probably benign |
Het |
| Vps13d |
A |
G |
4: 145,155,567 (GRCm38) |
V1152A |
|
Het |
| Wdr47 |
T |
C |
3: 108,618,968 (GRCm38) |
V269A |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,324,537 (GRCm38) |
D676E |
unknown |
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 |
|
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 |
|
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'- AGCCTTGATCCAACATCAGC -3'
(R):5'- GCTCCATTGCAGATAACGAAC -3'
Sequencing Primer
(F):5'- TTGATCCAACATCAGCAGCCAAAG -3'
(R):5'- TGCAGATAACGAACCTTTATCCCTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation