Incidental Mutation 'R8433:Zfp764l1'
ID |
653859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp764l1
|
Ensembl Gene |
ENSMUSG00000078580 |
Gene Name |
zinc finger protein 764 like 1 |
Synonyms |
E430018J23Rik |
MMRRC Submission |
067823-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R8433 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126988845-126992801 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 126992496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 38
(C38Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074249]
[ENSMUST00000106303]
[ENSMUST00000165495]
|
AlphaFold |
E9PZQ8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000074249
AA Change: C38Y
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000073867 Gene: ENSMUSG00000078580 AA Change: C38Y
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
79 |
4.43e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106303
AA Change: C38Y
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000101910 Gene: ENSMUSG00000078580 AA Change: C38Y
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
81 |
9.25e-28 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000165495
AA Change: C38Y
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000126288 Gene: ENSMUSG00000078580 AA Change: C38Y
Domain | Start | End | E-Value | Type |
KRAB
|
22 |
82 |
4.09e-29 |
SMART |
ZnF_C2H2
|
168 |
190 |
2.2e-2 |
SMART |
ZnF_C2H2
|
196 |
218 |
4.79e-3 |
SMART |
ZnF_C2H2
|
224 |
246 |
4.3e-5 |
SMART |
ZnF_C2H2
|
252 |
274 |
7.9e-4 |
SMART |
ZnF_C2H2
|
280 |
302 |
9.58e-3 |
SMART |
ZnF_C2H2
|
308 |
331 |
2.36e-2 |
SMART |
ZnF_C2H2
|
337 |
359 |
2.57e-3 |
SMART |
ZnF_C2H2
|
365 |
387 |
1.69e-3 |
SMART |
ZnF_C2H2
|
393 |
415 |
2.2e-2 |
SMART |
|
Meta Mutation Damage Score |
0.3601 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armh1 |
A |
G |
4: 117,085,535 (GRCm39) |
V227A |
probably benign |
Het |
Cfhr1 |
A |
T |
1: 139,485,276 (GRCm39) |
Y57N |
probably damaging |
Het |
Chtf18 |
A |
G |
17: 25,945,918 (GRCm39) |
S90P |
probably benign |
Het |
Eral1 |
A |
G |
11: 77,966,309 (GRCm39) |
S290P |
probably benign |
Het |
Foxk1 |
T |
C |
5: 142,434,539 (GRCm39) |
F268L |
probably benign |
Het |
Gsta3 |
A |
G |
1: 21,335,172 (GRCm39) |
K218E |
probably benign |
Het |
Mapk8ip2 |
G |
A |
15: 89,342,069 (GRCm39) |
A427T |
probably benign |
Het |
Mtch2 |
T |
A |
2: 90,677,505 (GRCm39) |
|
probably benign |
Het |
Ndufc1 |
A |
G |
3: 51,316,311 (GRCm39) |
L14P |
probably damaging |
Het |
Or55b4 |
A |
T |
7: 102,133,991 (GRCm39) |
I112N |
probably benign |
Het |
Or56a3b |
T |
C |
7: 104,770,931 (GRCm39) |
F89S |
probably damaging |
Het |
Or8k53 |
G |
A |
2: 86,177,144 (GRCm39) |
P322L |
unknown |
Het |
Parn |
C |
A |
16: 13,485,413 (GRCm39) |
D28Y |
probably damaging |
Het |
Phldb1 |
C |
T |
9: 44,627,759 (GRCm39) |
G229R |
probably damaging |
Het |
Prpf3 |
A |
G |
3: 95,758,963 (GRCm39) |
V63A |
probably damaging |
Het |
Ptger3 |
A |
C |
3: 157,349,592 (GRCm39) |
*363C |
probably null |
Het |
Rnf6 |
A |
G |
5: 146,148,088 (GRCm39) |
V310A |
probably damaging |
Het |
Scarf1 |
G |
A |
11: 75,411,858 (GRCm39) |
|
probably null |
Het |
Slc5a6 |
G |
A |
5: 31,194,806 (GRCm39) |
A530V |
possibly damaging |
Het |
Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
Svop |
A |
G |
5: 114,170,822 (GRCm39) |
C406R |
probably benign |
Het |
Tnn |
G |
A |
1: 159,924,790 (GRCm39) |
S1452L |
possibly damaging |
Het |
Tpx2 |
A |
G |
2: 152,722,056 (GRCm39) |
E216G |
probably damaging |
Het |
Trim39 |
A |
G |
17: 36,571,597 (GRCm39) |
V387A |
possibly damaging |
Het |
Unc80 |
A |
T |
1: 66,677,187 (GRCm39) |
K2039* |
probably null |
Het |
Vps13a |
A |
T |
19: 16,718,600 (GRCm39) |
L464I |
possibly damaging |
Het |
Wdr35 |
G |
A |
12: 9,058,495 (GRCm39) |
D562N |
probably damaging |
Het |
Zfp541 |
C |
T |
7: 15,805,999 (GRCm39) |
L45F |
probably benign |
Het |
Zswim5 |
A |
G |
4: 116,844,007 (GRCm39) |
Y1015C |
possibly damaging |
Het |
|
Other mutations in Zfp764l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01716:Zfp764l1
|
APN |
7 |
126,991,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01782:Zfp764l1
|
APN |
7 |
126,992,476 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02174:Zfp764l1
|
APN |
7 |
126,991,525 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02882:Zfp764l1
|
APN |
7 |
126,991,424 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03152:Zfp764l1
|
APN |
7 |
126,991,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R0552:Zfp764l1
|
UTSW |
7 |
126,991,504 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1828:Zfp764l1
|
UTSW |
7 |
126,991,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R1843:Zfp764l1
|
UTSW |
7 |
126,990,660 (GRCm39) |
missense |
probably benign |
0.32 |
R1866:Zfp764l1
|
UTSW |
7 |
126,992,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R3429:Zfp764l1
|
UTSW |
7 |
126,990,914 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4433:Zfp764l1
|
UTSW |
7 |
126,992,174 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4933:Zfp764l1
|
UTSW |
7 |
126,992,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5292:Zfp764l1
|
UTSW |
7 |
126,991,659 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6218:Zfp764l1
|
UTSW |
7 |
126,992,581 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6667:Zfp764l1
|
UTSW |
7 |
126,992,595 (GRCm39) |
missense |
probably benign |
0.35 |
R6712:Zfp764l1
|
UTSW |
7 |
126,991,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R7108:Zfp764l1
|
UTSW |
7 |
126,990,695 (GRCm39) |
missense |
probably benign |
0.05 |
R7214:Zfp764l1
|
UTSW |
7 |
126,990,695 (GRCm39) |
missense |
probably benign |
0.05 |
R7215:Zfp764l1
|
UTSW |
7 |
126,990,695 (GRCm39) |
missense |
probably benign |
0.05 |
R7216:Zfp764l1
|
UTSW |
7 |
126,990,695 (GRCm39) |
missense |
probably benign |
0.05 |
R7313:Zfp764l1
|
UTSW |
7 |
126,990,856 (GRCm39) |
missense |
probably benign |
0.23 |
R7396:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7397:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7398:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7478:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7479:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7480:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7481:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7512:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7652:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7716:Zfp764l1
|
UTSW |
7 |
126,991,259 (GRCm39) |
missense |
probably benign |
|
R7820:Zfp764l1
|
UTSW |
7 |
126,990,608 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7923:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R7999:Zfp764l1
|
UTSW |
7 |
126,991,600 (GRCm39) |
missense |
probably damaging |
0.98 |
R8097:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R8098:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R8100:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R8182:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R8184:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R8185:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R8309:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R8389:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R8436:Zfp764l1
|
UTSW |
7 |
126,992,496 (GRCm39) |
missense |
probably null |
0.88 |
R9196:Zfp764l1
|
UTSW |
7 |
126,990,761 (GRCm39) |
missense |
probably benign |
0.02 |
R9779:Zfp764l1
|
UTSW |
7 |
126,991,469 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Zfp764l1
|
UTSW |
7 |
126,992,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GACCCACTTGTTACGACCAC -3'
(R):5'- GCTCACGGACCTGATATATGTCC -3'
Sequencing Primer
(F):5'- ACTTGTTACGACCACCCGTAC -3'
(R):5'- GGCAACCTAGGATCTGGCAG -3'
|
Posted On |
2020-10-20 |