Incidental Mutation 'IGL03302:Zc3h7a'
ID |
416243 |
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 # |
IGL03302
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
10954458-10994257 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 10959574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 793
(H793L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037633]
[ENSMUST00000138185]
[ENSMUST00000140755]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037633
AA Change: H793L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041308 Gene: ENSMUSG00000037965 AA Change: H793L
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: ENSMUST00000102303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138185
|
SMART Domains |
Protein: ENSMUSP00000119480 Gene: ENSMUSG00000037965
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 |
noncoding transcript
Transcript: ENSMUST00000138282
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140755
|
SMART Domains |
Protein: ENSMUSP00000120720 Gene: ENSMUSG00000037965
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 benign
Transcript: ENSMUST00000140898
|
SMART Domains |
Protein: ENSMUSP00000118771 Gene: ENSMUSG00000037965
Domain | Start | End | E-Value | Type |
Blast:ZnF_C3H1
|
45 |
71 |
3e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143926
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,858,576 (GRCm39) |
Y542F |
possibly damaging |
Het |
Ankrd34b |
A |
T |
13: 92,576,151 (GRCm39) |
N461I |
possibly damaging |
Het |
Ccl24 |
T |
C |
5: 135,599,732 (GRCm39) |
K93E |
probably benign |
Het |
Ccr9 |
T |
A |
9: 123,608,601 (GRCm39) |
D94E |
probably damaging |
Het |
Cd79a |
G |
A |
7: 24,598,759 (GRCm39) |
V103M |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,950,521 (GRCm39) |
|
probably null |
Het |
Cul9 |
T |
C |
17: 46,837,566 (GRCm39) |
E993G |
probably damaging |
Het |
Cyp4a14 |
T |
C |
4: 115,348,575 (GRCm39) |
I330V |
probably benign |
Het |
Cyp7a1 |
T |
C |
4: 6,273,801 (GRCm39) |
D35G |
probably benign |
Het |
Dmpk |
C |
A |
7: 18,820,411 (GRCm39) |
|
probably benign |
Het |
Gcnt1 |
G |
T |
19: 17,306,547 (GRCm39) |
R393S |
probably benign |
Het |
Lctl |
C |
T |
9: 64,042,130 (GRCm39) |
|
probably benign |
Het |
Mttp |
A |
T |
3: 137,810,468 (GRCm39) |
I664N |
possibly damaging |
Het |
Myh1 |
C |
T |
11: 67,102,328 (GRCm39) |
A873V |
probably benign |
Het |
Nedd9 |
A |
G |
13: 41,492,330 (GRCm39) |
V54A |
probably damaging |
Het |
Or3a1b |
T |
G |
11: 74,012,459 (GRCm39) |
C115G |
possibly damaging |
Het |
Or4f14 |
A |
T |
2: 111,743,167 (GRCm39) |
V36E |
possibly damaging |
Het |
Or6b1 |
G |
T |
6: 42,814,937 (GRCm39) |
E41* |
probably null |
Het |
Pak6 |
A |
T |
2: 118,523,784 (GRCm39) |
E313V |
probably benign |
Het |
Pla2g4a |
A |
G |
1: 149,740,698 (GRCm39) |
S402P |
probably benign |
Het |
Polq |
T |
C |
16: 36,892,134 (GRCm39) |
M2012T |
probably damaging |
Het |
Ppp1r12b |
A |
T |
1: 134,765,788 (GRCm39) |
|
probably benign |
Het |
Rbp3 |
A |
G |
14: 33,676,616 (GRCm39) |
H188R |
probably damaging |
Het |
Rps6ka2 |
C |
A |
17: 7,566,787 (GRCm39) |
Q682K |
possibly damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Spag4 |
A |
G |
2: 155,910,340 (GRCm39) |
Q322R |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,676,466 (GRCm39) |
T702A |
probably benign |
Het |
Spmap2l |
T |
G |
5: 77,202,423 (GRCm39) |
S281R |
probably benign |
Het |
Taf3 |
G |
T |
2: 9,956,942 (GRCm39) |
F408L |
probably damaging |
Het |
Tead2 |
T |
G |
7: 44,882,323 (GRCm39) |
Y121D |
possibly damaging |
Het |
Tmco5 |
A |
T |
2: 116,722,760 (GRCm39) |
T294S |
probably damaging |
Het |
Trim37 |
A |
G |
11: 87,037,827 (GRCm39) |
E187G |
possibly damaging |
Het |
Ubb |
T |
A |
11: 62,443,243 (GRCm39) |
L91Q |
probably damaging |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Zan |
T |
C |
5: 137,466,652 (GRCm39) |
S402G |
possibly damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,773 (GRCm39) |
T2977I |
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 |
|
IGL03198:Zc3h7a
|
APN |
16 |
10,980,528 (GRCm39) |
nonsense |
probably null |
|
IGL03201:Zc3h7a
|
APN |
16 |
10,974,166 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |