Incidental Mutation 'IGL01588:Znhit6'
| ID |
91517 |
| 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 # |
IGL01588
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
145281960-145310550 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 145301962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098534]
[ENSMUST00000196413]
[ENSMUST00000197604]
[ENSMUST00000199033]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000197474
|
| 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: ENSMUST00000199033
|
| SMART Domains |
Protein: ENSMUSP00000143306
Gene: ENSMUSG00000074182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-HIT
|
40 |
69 |
4.7e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
A |
1: 139,405,900 (GRCm39) |
S1596T |
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,842,508 (GRCm39) |
H165R |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,330,668 (GRCm39) |
V260A |
probably benign |
Het |
| Ece1 |
C |
T |
4: 137,684,517 (GRCm39) |
|
probably benign |
Het |
| Garem1 |
T |
G |
18: 21,262,854 (GRCm39) |
R653S |
probably damaging |
Het |
| Gpatch2 |
A |
T |
1: 186,962,991 (GRCm39) |
S261C |
probably damaging |
Het |
| Ing4 |
A |
G |
6: 125,020,949 (GRCm39) |
N24D |
possibly damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,694,257 (GRCm39) |
V230D |
probably damaging |
Het |
| Ly96 |
G |
A |
1: 16,779,678 (GRCm39) |
V116I |
probably benign |
Het |
| Myom1 |
C |
T |
17: 71,424,432 (GRCm39) |
T1427M |
possibly damaging |
Het |
| Nedd1 |
C |
A |
10: 92,522,124 (GRCm39) |
V638L |
probably benign |
Het |
| Or52d3 |
C |
T |
7: 104,229,150 (GRCm39) |
S99F |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,417 (GRCm39) |
V117A |
probably benign |
Het |
| Or8g30 |
G |
A |
9: 39,230,128 (GRCm39) |
Q261* |
probably null |
Het |
| Pbx2 |
T |
C |
17: 34,814,592 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
A |
T |
1: 106,308,119 (GRCm39) |
H1132L |
probably damaging |
Het |
| Plpp5 |
T |
A |
8: 26,214,195 (GRCm39) |
H237Q |
probably damaging |
Het |
| Stard13 |
C |
T |
5: 150,968,702 (GRCm39) |
R856H |
probably damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,724,102 (GRCm39) |
K285R |
probably benign |
Het |
| Ubxn8 |
C |
T |
8: 34,111,587 (GRCm39) |
V269M |
probably damaging |
Het |
| Usp29 |
A |
T |
7: 6,965,610 (GRCm39) |
K484N |
probably benign |
Het |
| Whrn |
C |
T |
4: 63,391,015 (GRCm39) |
V80M |
probably damaging |
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 |
|
|
IGL01911:Znhit6
|
APN |
3 |
145,283,853 (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 |
2013-12-09 |
Incidental Mutation