Incidental Mutation 'R6537:Znhit6'
| ID |
520456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znhit6
|
| Ensembl Gene |
ENSMUSG00000074182 |
| Gene Name |
zinc finger, HIT type 6 |
| Synonyms |
2410019A14Rik |
| MMRRC Submission |
044663-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
145281960-145310550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145300374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 193
(I193V)
|
| 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
AA Change: I361V
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000096136
Gene: ENSMUSG00000074182
AA Change: I361V
| 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
AA Change: I217V
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143376
Gene: ENSMUSG00000074182
AA Change: I217V
| 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
AA Change: I193V
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143306
Gene: ENSMUSG00000074182
AA Change: I193V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-HIT
|
40 |
69 |
4.7e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc4 |
T |
C |
5: 53,000,898 (GRCm39) |
S224P |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,945,153 (GRCm39) |
T987M |
possibly damaging |
Het |
| Cort |
C |
T |
4: 149,211,081 (GRCm39) |
G8E |
probably benign |
Het |
| Ctdp1 |
G |
T |
18: 80,492,766 (GRCm39) |
D576E |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
| Cwc15 |
A |
G |
9: 14,413,284 (GRCm39) |
D22G |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,887,898 (GRCm39) |
G136R |
probably null |
Het |
| Fxyd6 |
A |
G |
9: 45,302,092 (GRCm39) |
I37V |
possibly damaging |
Het |
| Gm10604 |
A |
C |
4: 11,980,221 (GRCm39) |
S28A |
unknown |
Het |
| Gm43302 |
A |
G |
5: 105,438,861 (GRCm39) |
I9T |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,305,280 (GRCm39) |
V3151A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,435,573 (GRCm39) |
T282A |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,457,458 (GRCm39) |
E782G |
probably benign |
Het |
| Lrrc3b |
T |
C |
14: 15,357,946 (GRCm38) |
Y220C |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,386,518 (GRCm39) |
S1033N |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,994,481 (GRCm39) |
T452A |
probably benign |
Het |
| Nrn1l |
G |
T |
8: 106,621,350 (GRCm39) |
R99L |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,519 (GRCm39) |
I1142N |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,280,358 (GRCm39) |
F728L |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,874,094 (GRCm39) |
|
probably null |
Het |
| Siglecf |
C |
T |
7: 43,005,423 (GRCm39) |
T461I |
probably benign |
Het |
| Slc7a8 |
C |
T |
14: 54,972,576 (GRCm39) |
A282T |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,392 (GRCm39) |
V1724A |
probably damaging |
Het |
| Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,725,561 (GRCm39) |
Q609R |
probably benign |
Het |
| Trim45 |
C |
T |
3: 100,832,712 (GRCm39) |
A315V |
probably benign |
Het |
| Ttbk1 |
C |
T |
17: 46,781,236 (GRCm39) |
V446M |
probably damaging |
Het |
| Wrap53 |
T |
C |
11: 69,454,694 (GRCm39) |
D225G |
possibly 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 |
|
|
IGL01588:Znhit6
|
APN |
3 |
145,301,962 (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 |
|
X0065:Znhit6
|
UTSW |
3 |
145,284,241 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTAGAAAGTCTGTCTGTGC -3'
(R):5'- GGCACTAGTTTTACAGTGACTGAAC -3'
Sequencing Primer
(F):5'- CTAGAAAGTCTGTCTGTGCTTTTC -3'
(R):5'- GTCTAAGTTCCAACTCTGAGAGGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation