Incidental Mutation 'IGL03198:Zc3h7a'
| ID |
412898 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zc3h7a
|
| Ensembl Gene |
ENSMUSG00000037965 |
| Gene Name |
zinc finger CCCH type containing 7 A |
| Synonyms |
A430104C18Rik, Zc3h7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
IGL03198
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 10980528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 28
(Y28*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037633]
[ENSMUST00000125537]
[ENSMUST00000128083]
[ENSMUST00000130355]
[ENSMUST00000138185]
[ENSMUST00000140755]
[ENSMUST00000142389]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037633
AA Change: Y28*
|
| SMART Domains |
Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: Y28*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DBA|A
|
26 |
157 |
9e-7 |
PDB |
|
Blast:TPR
|
43 |
76 |
1e-7 |
BLAST |
|
SCOP:d1ihga1
|
46 |
169 |
1e-11 |
SMART |
|
Blast:TPR
|
124 |
156 |
9e-9 |
BLAST |
|
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
398 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
443 |
467 |
1.83e2 |
SMART |
|
ZnF_C3H1
|
630 |
654 |
1.57e1 |
SMART |
|
ZnF_C3H1
|
770 |
795 |
8.81e0 |
SMART |
|
ZnF_C2H2
|
856 |
880 |
1.62e0 |
SMART |
|
ZnF_C3H1
|
902 |
926 |
1.76e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082631
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125537
AA Change: Y28*
|
| SMART Domains |
Protein: ENSMUSP00000122525
Gene: ENSMUSG00000037965
AA Change: Y28*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
43 |
76 |
2e-9 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128083
AA Change: Y28*
|
| SMART Domains |
Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: Y28*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
41 |
120 |
2.7e-8 |
PFAM |
|
Blast:TPR
|
124 |
156 |
4e-9 |
BLAST |
|
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
398 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
443 |
467 |
2e-10 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130355
AA Change: Y28*
|
| SMART Domains |
Protein: ENSMUSP00000120931
Gene: ENSMUSG00000037965
AA Change: Y28*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
41 |
120 |
4.4e-9 |
PFAM |
|
Blast:TPR
|
124 |
156 |
2e-9 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000138185
AA Change: Y28*
|
| SMART Domains |
Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: Y28*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
41 |
120 |
3.9e-8 |
PFAM |
|
Blast:TPR
|
124 |
156 |
6e-9 |
BLAST |
|
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
398 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
443 |
467 |
4e-10 |
BLAST |
|
Blast:ZnF_C3H1
|
628 |
654 |
5e-10 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140755
AA Change: Y28*
|
| SMART Domains |
Protein: ENSMUSP00000120720
Gene: ENSMUSG00000037965
AA Change: Y28*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
41 |
120 |
1e-7 |
PFAM |
|
Blast:TPR
|
124 |
156 |
5e-9 |
BLAST |
|
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142389
AA Change: Y28*
|
| SMART Domains |
Protein: ENSMUSP00000114432
Gene: ENSMUSG00000037965
AA Change: Y28*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
43 |
76 |
2e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142844
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,620,177 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,425 (GRCm39) |
|
probably null |
Het |
| Brca1 |
G |
T |
11: 101,403,537 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,368,108 (GRCm39) |
C372S |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,526,936 (GRCm39) |
|
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,186,615 (GRCm39) |
N262D |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,966,499 (GRCm39) |
|
probably null |
Het |
| Foxj2 |
G |
A |
6: 122,809,966 (GRCm39) |
|
probably null |
Het |
| Gm4297 |
T |
A |
X: 24,418,810 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,553,555 (GRCm39) |
D429G |
probably benign |
Het |
| Hcfc1 |
T |
C |
X: 72,994,935 (GRCm39) |
I924V |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,956,642 (GRCm39) |
V411A |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,514,168 (GRCm39) |
V83E |
probably damaging |
Het |
| Pa2g4 |
A |
G |
10: 128,401,647 (GRCm39) |
V17A |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,470 (GRCm39) |
V1079A |
probably damaging |
Het |
| Polr2a |
G |
T |
11: 69,638,107 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
C |
T |
15: 73,108,065 (GRCm39) |
S722N |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,025,508 (GRCm39) |
D1243G |
probably benign |
Het |
| Sirt4 |
T |
C |
5: 115,621,061 (GRCm39) |
D37G |
probably benign |
Het |
| Slc35d1 |
T |
C |
4: 103,042,085 (GRCm39) |
Y249C |
probably damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,659,968 (GRCm39) |
|
probably null |
Het |
| Srek1 |
T |
C |
13: 103,881,443 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
T |
6: 48,454,516 (GRCm39) |
I2951F |
probably benign |
Het |
| Stxbp3 |
A |
G |
3: 108,734,405 (GRCm39) |
F40L |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,778,921 (GRCm39) |
V604A |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,104,510 (GRCm39) |
Y544C |
probably damaging |
Het |
| Tnpo2 |
C |
T |
8: 85,778,347 (GRCm39) |
T592I |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,388,941 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 38,045,964 (GRCm39) |
L120Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,847,844 (GRCm39) |
M836K |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,741,479 (GRCm39) |
N141S |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,508,304 (GRCm39) |
D659G |
possibly damaging |
Het |
|
| Other mutations in Zc3h7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Zc3h7a
|
APN |
16 |
10,955,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00908:Zc3h7a
|
APN |
16 |
10,963,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01087:Zc3h7a
|
APN |
16 |
10,971,046 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01285:Zc3h7a
|
APN |
16 |
10,956,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01453:Zc3h7a
|
APN |
16 |
10,967,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01639:Zc3h7a
|
APN |
16 |
10,959,572 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01716:Zc3h7a
|
APN |
16 |
10,963,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02059:Zc3h7a
|
APN |
16 |
10,978,862 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02170:Zc3h7a
|
APN |
16 |
10,964,259 (GRCm39) |
missense |
probably benign |
|
|
IGL02256:Zc3h7a
|
APN |
16 |
10,965,140 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02904:Zc3h7a
|
APN |
16 |
10,968,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Zc3h7a
|
APN |
16 |
10,976,458 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03201:Zc3h7a
|
APN |
16 |
10,974,166 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03302:Zc3h7a
|
APN |
16 |
10,959,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
agreement
|
UTSW |
16 |
10,971,025 (GRCm39) |
missense |
probably benign |
0.02 |
|
Clement
|
UTSW |
16 |
10,982,466 (GRCm39) |
nonsense |
probably null |
|
|
consensus
|
UTSW |
16 |
10,978,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Zc3h7a
|
UTSW |
16 |
10,957,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Zc3h7a
|
UTSW |
16 |
10,958,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0376:Zc3h7a
|
UTSW |
16 |
10,974,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0545:Zc3h7a
|
UTSW |
16 |
10,970,197 (GRCm39) |
unclassified |
probably benign |
|
|
R0666:Zc3h7a
|
UTSW |
16 |
10,974,167 (GRCm39) |
unclassified |
probably benign |
|
|
R0831:Zc3h7a
|
UTSW |
16 |
10,969,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1127:Zc3h7a
|
UTSW |
16 |
10,956,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1296:Zc3h7a
|
UTSW |
16 |
10,978,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Zc3h7a
|
UTSW |
16 |
10,978,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Zc3h7a
|
UTSW |
16 |
10,980,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Zc3h7a
|
UTSW |
16 |
10,963,117 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1786:Zc3h7a
|
UTSW |
16 |
10,968,469 (GRCm39) |
nonsense |
probably null |
|
|
R1840:Zc3h7a
|
UTSW |
16 |
10,978,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Zc3h7a
|
UTSW |
16 |
10,965,168 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2055:Zc3h7a
|
UTSW |
16 |
10,955,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2131:Zc3h7a
|
UTSW |
16 |
10,968,469 (GRCm39) |
nonsense |
probably null |
|
|
R2281:Zc3h7a
|
UTSW |
16 |
10,976,458 (GRCm39) |
unclassified |
probably benign |
|
|
R2399:Zc3h7a
|
UTSW |
16 |
10,965,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2979:Zc3h7a
|
UTSW |
16 |
10,976,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3915:Zc3h7a
|
UTSW |
16 |
10,974,074 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4078:Zc3h7a
|
UTSW |
16 |
10,969,011 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4095:Zc3h7a
|
UTSW |
16 |
10,963,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4208:Zc3h7a
|
UTSW |
16 |
10,982,508 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4444:Zc3h7a
|
UTSW |
16 |
10,968,457 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4739:Zc3h7a
|
UTSW |
16 |
10,959,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5059:Zc3h7a
|
UTSW |
16 |
10,978,985 (GRCm39) |
frame shift |
probably null |
|
|
R5545:Zc3h7a
|
UTSW |
16 |
10,966,315 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5815:Zc3h7a
|
UTSW |
16 |
10,974,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5915:Zc3h7a
|
UTSW |
16 |
10,982,466 (GRCm39) |
nonsense |
probably null |
|
|
R5993:Zc3h7a
|
UTSW |
16 |
10,968,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Zc3h7a
|
UTSW |
16 |
10,965,234 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6459:Zc3h7a
|
UTSW |
16 |
10,971,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Zc3h7a
|
UTSW |
16 |
10,976,629 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6700:Zc3h7a
|
UTSW |
16 |
10,976,831 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6904:Zc3h7a
|
UTSW |
16 |
10,963,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Zc3h7a
|
UTSW |
16 |
10,967,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7354:Zc3h7a
|
UTSW |
16 |
10,966,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Zc3h7a
|
UTSW |
16 |
10,956,890 (GRCm39) |
nonsense |
probably null |
|
|
R7742:Zc3h7a
|
UTSW |
16 |
10,971,025 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7780:Zc3h7a
|
UTSW |
16 |
10,967,115 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8228:Zc3h7a
|
UTSW |
16 |
10,956,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8302:Zc3h7a
|
UTSW |
16 |
10,955,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:Zc3h7a
|
UTSW |
16 |
10,964,417 (GRCm39) |
intron |
probably benign |
|
|
R8795:Zc3h7a
|
UTSW |
16 |
10,965,147 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9060:Zc3h7a
|
UTSW |
16 |
10,969,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation