Incidental Mutation 'R8877:Zc3h6'
| ID |
676616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
|
| MMRRC Submission |
068745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R8877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 129014399 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 466
(C466*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000110320
AA Change: C466*
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: C466*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,554,777 (GRCm38) |
|
probably null |
Het |
| Acp2 |
G |
A |
2: 91,205,784 (GRCm38) |
R109H |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,951,392 (GRCm38) |
S298P |
probably damaging |
Het |
| Anxa7 |
A |
G |
14: 20,467,480 (GRCm38) |
V157A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,833,621 (GRCm38) |
K181E |
probably damaging |
Het |
| Armt1 |
A |
G |
10: 4,450,864 (GRCm38) |
T204A |
possibly damaging |
Het |
| Brip1 |
A |
C |
11: 86,152,706 (GRCm38) |
V344G |
possibly damaging |
Het |
| Ccdc40 |
C |
T |
11: 119,263,166 (GRCm38) |
S1088L |
probably damaging |
Het |
| Ccdc93 |
A |
T |
1: 121,476,138 (GRCm38) |
H332L |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,829,678 (GRCm38) |
D1120G |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 153,993,528 (GRCm38) |
I631N |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,648,758 (GRCm38) |
A1354T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,541,693 (GRCm38) |
L10P |
probably damaging |
Het |
| Creg2 |
G |
T |
1: 39,650,693 (GRCm38) |
T83K |
probably benign |
Het |
| Ddit3 |
T |
C |
10: 127,296,015 (GRCm38) |
I144T |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,878,225 (GRCm38) |
I1150V |
possibly damaging |
Het |
| Eprs1 |
C |
T |
1: 185,415,874 (GRCm38) |
R1278* |
probably null |
Het |
| Esco1 |
A |
G |
18: 10,575,017 (GRCm38) |
V685A |
probably damaging |
Het |
| Gid8 |
C |
T |
2: 180,716,917 (GRCm38) |
A125V |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,783,216 (GRCm38) |
D208G |
possibly damaging |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm38) |
|
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,854,275 (GRCm38) |
I679V |
probably damaging |
Het |
| Gsto2 |
C |
A |
19: 47,884,737 (GRCm38) |
R184S |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,952,104 (GRCm38) |
H830Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,638,908 (GRCm38) |
T3571I |
probably benign |
Het |
| Khnyn |
T |
C |
14: 55,894,325 (GRCm38) |
V568A |
possibly damaging |
Het |
| Kif13a |
T |
A |
13: 46,801,445 (GRCm38) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,143,799 (GRCm38) |
V161A |
probably benign |
Het |
| Larp6 |
T |
A |
9: 60,737,567 (GRCm38) |
M330K |
probably benign |
Het |
| Lhfpl6 |
A |
G |
3: 53,043,553 (GRCm38) |
R83G |
possibly damaging |
Het |
| Mavs |
A |
G |
2: 131,245,569 (GRCm38) |
N329S |
possibly damaging |
Het |
| Mep1b |
T |
A |
18: 21,088,573 (GRCm38) |
N193K |
possibly damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,404,231 (GRCm38) |
R12* |
probably null |
Het |
| Mttp |
A |
T |
3: 138,112,556 (GRCm38) |
D380E |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,630,243 (GRCm38) |
T1939I |
probably damaging |
Het |
| Nsun7 |
A |
T |
5: 66,295,951 (GRCm38) |
R670* |
probably null |
Het |
| Obsl1 |
G |
A |
1: 75,496,523 (GRCm38) |
R1019* |
probably null |
Het |
| Or10ak12 |
A |
G |
4: 118,809,285 (GRCm38) |
V193A |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,628,868 (GRCm38) |
M19T |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,914,122 (GRCm38) |
V922I |
probably damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,578,939 (GRCm38) |
V190A |
possibly damaging |
Het |
| Plekhg2 |
G |
T |
7: 28,360,853 (GRCm38) |
T993N |
possibly damaging |
Het |
| Psg26 |
C |
T |
7: 18,483,940 (GRCm38) |
V18I |
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,380,265 (GRCm38) |
Y187C |
probably damaging |
Het |
| Smarcd3 |
A |
G |
5: 24,593,992 (GRCm38) |
S323P |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,471,826 (GRCm38) |
Y3163* |
probably null |
Het |
| Stx4a |
T |
A |
7: 127,848,461 (GRCm38) |
V259D |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,037,666 (GRCm38) |
S1331P |
probably damaging |
Het |
| Tmprss11c |
G |
A |
5: 86,237,681 (GRCm38) |
Q311* |
probably null |
Het |
| Tpo |
T |
A |
12: 30,092,739 (GRCm38) |
N662I |
probably damaging |
Het |
| Trav13-4-dv7 |
C |
A |
14: 53,757,893 (GRCm38) |
D101E |
probably damaging |
Het |
| Trbv14 |
G |
A |
6: 41,135,358 (GRCm38) |
A30T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,527,985 (GRCm38) |
S917P |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,011,097 (GRCm38) |
V1021A |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,461,755 (GRCm38) |
M72T |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,609,356 (GRCm38) |
E122K |
unknown |
Het |
| Zfyve26 |
T |
C |
12: 79,287,378 (GRCm38) |
K289E |
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 |
|
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 |
|
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'- TCTACCTGCCAATGACATGAA -3'
(R):5'- TTCAGATGAACTGGGTAGCAAA -3'
Sequencing Primer
(F):5'- TCCTGACTTCCTTCAGAGATGAACAG -3'
(R):5'- AGCAAAGATGGGTTCTCTTGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation