Incidental Mutation 'IGL02161:Zc3h6'
| ID |
282475 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
IGL02161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128993226 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 94
(S94N)
|
| 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
AA Change: S94N
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851
AA Change: S94N
| 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 |
possibly damaging
Transcript: ENSMUST00000110320
AA Change: S94N
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: S94N
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,874,755 (GRCm38) |
V1024D |
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,423,193 (GRCm38) |
M262L |
probably benign |
Het |
| Arid5b |
T |
C |
10: 68,096,668 (GRCm38) |
T1135A |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,850,527 (GRCm38) |
Y2177* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,548,837 (GRCm38) |
H214P |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,409,415 (GRCm38) |
|
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,977,963 (GRCm38) |
T149I |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,579,372 (GRCm38) |
R942S |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 141,033,991 (GRCm38) |
A941V |
probably benign |
Het |
| Csde1 |
A |
G |
3: 103,050,338 (GRCm38) |
Q471R |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,358,412 (GRCm38) |
V380I |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,757,606 (GRCm38) |
Q857L |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,854,876 (GRCm38) |
|
probably benign |
Het |
| Fat3 |
C |
A |
9: 15,997,050 (GRCm38) |
R2552I |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,997,051 (GRCm38) |
R2552* |
probably null |
Het |
| Fbln7 |
A |
T |
2: 128,889,791 (GRCm38) |
K166I |
probably benign |
Het |
| Glrx2 |
C |
T |
1: 143,739,683 (GRCm38) |
S8L |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,854,422 (GRCm38) |
I630L |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,253,379 (GRCm38) |
W423R |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,666,045 (GRCm38) |
E468G |
probably damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,168,936 (GRCm38) |
S566P |
probably benign |
Het |
| Lemd2 |
A |
G |
17: 27,190,651 (GRCm38) |
S509P |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,745,678 (GRCm38) |
F221S |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 55,863,984 (GRCm38) |
F370S |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 104,049,590 (GRCm38) |
V255L |
possibly damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,475,502 (GRCm38) |
S596T |
possibly damaging |
Het |
| Prkcq |
G |
T |
2: 11,277,076 (GRCm38) |
S472I |
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,207,099 (GRCm38) |
|
probably benign |
Het |
| Rnd3 |
C |
T |
2: 51,134,076 (GRCm38) |
V164M |
probably benign |
Het |
| Rtn4rl1 |
G |
A |
11: 75,265,840 (GRCm38) |
R366Q |
probably damaging |
Het |
| Sesn2 |
A |
T |
4: 132,496,918 (GRCm38) |
I393N |
probably damaging |
Het |
| St8sia2 |
T |
C |
7: 73,976,682 (GRCm38) |
N46S |
probably benign |
Het |
| Svopl |
A |
G |
6: 38,036,815 (GRCm38) |
|
probably benign |
Het |
| Tbr1 |
C |
T |
2: 61,805,239 (GRCm38) |
Q178* |
probably null |
Het |
| Vax2 |
T |
C |
6: 83,737,903 (GRCm38) |
S267P |
probably damaging |
Het |
| Vmn1r47 |
T |
A |
6: 90,022,316 (GRCm38) |
Y143* |
probably null |
Het |
| Vmn2r28 |
A |
G |
7: 5,488,124 (GRCm38) |
S375P |
possibly damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,377,815 (GRCm38) |
Y360N |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation