Incidental Mutation 'R3743:Zc3h6'
| ID |
270435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
|
| MMRRC Submission |
040729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R3743 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128997792 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 175
(Y175C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110319]
[ENSMUST00000110320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000110320
AA Change: Y175C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: Y175C
| 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 |
0.3728 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,455,037 (GRCm38) |
R168G |
probably damaging |
Het |
| 1700030K09Rik |
A |
G |
8: 72,445,169 (GRCm38) |
H140R |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,528,712 (GRCm38) |
I41V |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,474,705 (GRCm38) |
V198A |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 45,178,228 (GRCm38) |
|
probably null |
Het |
| Atmin |
T |
C |
8: 116,956,573 (GRCm38) |
V324A |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,948,584 (GRCm38) |
R464C |
probably damaging |
Het |
| Ccr7 |
G |
T |
11: 99,145,207 (GRCm38) |
S296R |
possibly damaging |
Het |
| Cdh12 |
T |
A |
15: 21,537,659 (GRCm38) |
S415R |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,217,177 (GRCm38) |
|
probably benign |
Het |
| Chd3 |
G |
A |
11: 69,364,050 (GRCm38) |
R61* |
probably null |
Het |
| Cr2 |
A |
G |
1: 195,149,966 (GRCm38) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,114,774 (GRCm38) |
S305P |
probably benign |
Het |
| Cyp4a31 |
A |
C |
4: 115,566,519 (GRCm38) |
Q140P |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,771,159 (GRCm38) |
W691R |
probably damaging |
Het |
| Dlgap1 |
G |
A |
17: 70,718,226 (GRCm38) |
|
probably null |
Het |
| Exoc5 |
T |
C |
14: 49,014,349 (GRCm38) |
I582V |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,033,407 (GRCm38) |
L387* |
probably null |
Het |
| Fbxw8 |
A |
G |
5: 118,113,639 (GRCm38) |
S270P |
probably damaging |
Het |
| Fgf14 |
C |
A |
14: 124,676,620 (GRCm38) |
G33V |
probably benign |
Het |
| Hoxd9 |
T |
A |
2: 74,698,366 (GRCm38) |
V104E |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,326,125 (GRCm38) |
H1729R |
possibly damaging |
Het |
| Irf8 |
C |
T |
8: 120,753,571 (GRCm38) |
R274C |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 116,003,670 (GRCm38) |
M1350I |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,869,866 (GRCm38) |
|
probably null |
Het |
| Map3k6 |
C |
T |
4: 133,245,073 (GRCm38) |
T320I |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,683,700 (GRCm38) |
E604G |
possibly damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,300,298 (GRCm38) |
I582T |
probably benign |
Het |
| Ninl |
A |
G |
2: 150,950,248 (GRCm38) |
V785A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,079,085 (GRCm38) |
E77G |
probably damaging |
Het |
| Olfr1314 |
A |
G |
2: 112,092,620 (GRCm38) |
L27P |
probably benign |
Het |
| Olfr134 |
T |
G |
17: 38,175,902 (GRCm38) |
F273V |
probably damaging |
Het |
| Olfr222 |
T |
C |
11: 59,571,509 (GRCm38) |
Y77C |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,296,417 (GRCm38) |
D124G |
probably damaging |
Het |
| Pfkl |
G |
A |
10: 77,996,345 (GRCm38) |
T304M |
probably damaging |
Het |
| Ppil4 |
T |
A |
10: 7,821,171 (GRCm38) |
S483T |
unknown |
Het |
| Sdccag3 |
A |
G |
2: 26,388,643 (GRCm38) |
|
probably benign |
Het |
| Slc7a10 |
C |
T |
7: 35,198,900 (GRCm38) |
T332I |
probably damaging |
Het |
| Spats2 |
T |
C |
15: 99,210,914 (GRCm38) |
S382P |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,514,886 (GRCm38) |
D70E |
probably benign |
Het |
| Tmprss11e |
G |
A |
5: 86,709,456 (GRCm38) |
Q333* |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,254,302 (GRCm38) |
D430V |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,562 (GRCm38) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,566 (GRCm38) |
S206L |
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 |
|
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'- GACGTATATCAGGAAGTTACATGAC -3'
(R):5'- TAGGCTCAAGGTCTACACGG -3'
Sequencing Primer
(F):5'- ATCAGGAAGTTACATGACATCAAAG -3'
(R):5'- GCTCAAGGTCTACACGGTACAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation