Incidental Mutation 'IGL01911:Znhit6'
| ID |
179824 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Znhit6
|
| Ensembl Gene |
ENSMUSG00000074182 |
| Gene Name |
zinc finger, HIT type 6 |
| Synonyms |
2410019A14Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
145281960-145310550 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 145283853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098534]
[ENSMUST00000196413]
[ENSMUST00000197604]
[ENSMUST00000197940]
[ENSMUST00000199033]
[ENSMUST00000200574]
|
| AlphaFold |
Q3UFB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098534
|
| SMART Domains |
Protein: ENSMUSP00000096136
Gene: ENSMUSG00000074182
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
150 |
N/A |
INTRINSIC |
|
Pfam:zf-HIT
|
208 |
237 |
4.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196413
|
| SMART Domains |
Protein: ENSMUSP00000143376
Gene: ENSMUSG00000074182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-HIT
|
64 |
93 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197604
|
| SMART Domains |
Protein: ENSMUSP00000143484
Gene: ENSMUSG00000074182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-HIT
|
40 |
69 |
2.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197940
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199033
|
| SMART Domains |
Protein: ENSMUSP00000143306
Gene: ENSMUSG00000074182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-HIT
|
40 |
69 |
4.7e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200574
|
| SMART Domains |
Protein: ENSMUSP00000143259
Gene: ENSMUSG00000074182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-HIT
|
40 |
69 |
1.3e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
T |
C |
1: 58,191,719 (GRCm39) |
F424L |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,671,077 (GRCm39) |
T301A |
probably damaging |
Het |
| Atp9a |
C |
A |
2: 168,495,481 (GRCm39) |
R575L |
probably damaging |
Het |
| Brca2 |
G |
A |
5: 150,491,078 (GRCm39) |
D3088N |
probably damaging |
Het |
| Brd3 |
G |
A |
2: 27,349,812 (GRCm39) |
T247I |
probably damaging |
Het |
| Btbd8 |
A |
G |
5: 107,656,446 (GRCm39) |
H903R |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,275,933 (GRCm39) |
N1908S |
probably benign |
Het |
| Ccdc40 |
A |
T |
11: 119,122,797 (GRCm39) |
|
probably null |
Het |
| Cdyl |
T |
C |
13: 36,047,226 (GRCm39) |
V389A |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,963 (GRCm39) |
F814S |
probably damaging |
Het |
| Cstf3 |
T |
C |
2: 104,476,976 (GRCm39) |
F149S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,804,784 (GRCm39) |
Y122H |
probably damaging |
Het |
| Dram1 |
T |
C |
10: 88,161,203 (GRCm39) |
D222G |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,512,802 (GRCm39) |
R96H |
probably damaging |
Het |
| Gm11563 |
T |
A |
11: 99,549,527 (GRCm39) |
R76* |
probably null |
Het |
| Gm17093 |
A |
C |
14: 44,758,277 (GRCm39) |
|
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpi1 |
A |
T |
7: 33,920,347 (GRCm39) |
V136D |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,059,410 (GRCm39) |
T204M |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,006,963 (GRCm39) |
I403T |
probably damaging |
Het |
| Krt75 |
A |
T |
15: 101,476,537 (GRCm39) |
D409E |
probably damaging |
Het |
| Limk2 |
T |
G |
11: 3,305,340 (GRCm39) |
T76P |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,015,030 (GRCm39) |
M608L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,899,421 (GRCm39) |
E979* |
probably null |
Het |
| Or52ab7 |
T |
G |
7: 102,978,480 (GRCm39) |
F262L |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,796,831 (GRCm39) |
A166V |
probably damaging |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,854 (GRCm39) |
E309G |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,905,458 (GRCm39) |
Y199* |
probably null |
Het |
| Setd2 |
C |
A |
9: 110,446,499 (GRCm39) |
|
probably null |
Het |
| Slc66a1 |
A |
G |
4: 139,028,384 (GRCm39) |
V186A |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,222,277 (GRCm39) |
I648F |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,980 (GRCm39) |
R577W |
probably benign |
Het |
|
| Other mutations in Znhit6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Znhit6
|
APN |
3 |
145,283,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00969:Znhit6
|
APN |
3 |
145,300,351 (GRCm39) |
splice site |
probably benign |
|
|
IGL01588:Znhit6
|
APN |
3 |
145,301,962 (GRCm39) |
splice site |
probably benign |
|
|
IGL02118:Znhit6
|
APN |
3 |
145,283,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1066:Znhit6
|
UTSW |
3 |
145,284,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1115:Znhit6
|
UTSW |
3 |
145,300,440 (GRCm39) |
splice site |
probably null |
|
|
R2278:Znhit6
|
UTSW |
3 |
145,281,991 (GRCm39) |
unclassified |
probably benign |
|
|
R2391:Znhit6
|
UTSW |
3 |
145,300,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Znhit6
|
UTSW |
3 |
145,283,924 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2877:Znhit6
|
UTSW |
3 |
145,282,409 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3825:Znhit6
|
UTSW |
3 |
145,284,099 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4636:Znhit6
|
UTSW |
3 |
145,306,333 (GRCm39) |
splice site |
silent |
|
|
R4636:Znhit6
|
UTSW |
3 |
145,306,334 (GRCm39) |
missense |
probably null |
0.11 |
|
R5295:Znhit6
|
UTSW |
3 |
145,306,248 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5964:Znhit6
|
UTSW |
3 |
145,282,688 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5965:Znhit6
|
UTSW |
3 |
145,284,103 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6537:Znhit6
|
UTSW |
3 |
145,300,374 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0065:Znhit6
|
UTSW |
3 |
145,284,241 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation