Incidental Mutation 'R0552:Zfp764l1'
| ID |
45238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp764l1
|
| Ensembl Gene |
ENSMUSG00000078580 |
| Gene Name |
zinc finger protein 764 like 1 |
| Synonyms |
E430018J23Rik |
| MMRRC Submission |
038744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R0552 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126988845-126992801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126991504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 161
(I161N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074249]
[ENSMUST00000106303]
[ENSMUST00000165495]
|
| AlphaFold |
E9PZQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074249
AA Change: S149T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000073867
Gene: ENSMUSG00000078580
AA Change: S149T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
22 |
79 |
4.43e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106303
|
| SMART Domains |
Protein: ENSMUSP00000101910
Gene: ENSMUSG00000078580
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
22 |
81 |
9.25e-28 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165495
AA Change: I161N
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: I161N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
T |
8: 25,453,026 (GRCm39) |
N760K |
probably benign |
Het |
| Ahcyl |
T |
A |
16: 45,974,955 (GRCm39) |
T141S |
probably benign |
Het |
| Akr1b10 |
A |
G |
6: 34,369,920 (GRCm39) |
T216A |
possibly damaging |
Het |
| Arsj |
A |
G |
3: 126,232,993 (GRCm39) |
R580G |
probably benign |
Het |
| C9 |
A |
T |
15: 6,474,918 (GRCm39) |
I26F |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,533,041 (GRCm39) |
E578G |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,622,536 (GRCm39) |
V510I |
probably benign |
Het |
| Dab2 |
C |
T |
15: 6,464,895 (GRCm39) |
T561I |
possibly damaging |
Het |
| Golga5 |
A |
T |
12: 102,450,752 (GRCm39) |
E12D |
possibly damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,874,280 (GRCm39) |
F208I |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,579,008 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
T |
A |
15: 99,127,337 (GRCm39) |
W378R |
probably damaging |
Het |
| Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lcn3 |
T |
C |
2: 25,656,421 (GRCm39) |
|
probably null |
Het |
| Mppe1 |
A |
G |
18: 67,370,419 (GRCm39) |
|
probably null |
Het |
| Muc20 |
G |
A |
16: 32,614,300 (GRCm39) |
A359V |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,263,105 (GRCm39) |
D1765G |
probably damaging |
Het |
| Or10j2 |
T |
C |
1: 173,098,372 (GRCm39) |
M210T |
probably benign |
Het |
| Or4c10b |
C |
T |
2: 89,711,235 (GRCm39) |
Q22* |
probably null |
Het |
| Or5p58 |
A |
G |
7: 107,693,985 (GRCm39) |
M264T |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,757,916 (GRCm39) |
L182Q |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,967,095 (GRCm39) |
N412S |
probably benign |
Het |
| Phyh |
A |
G |
2: 4,940,912 (GRCm39) |
T271A |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,352,942 (GRCm39) |
S258P |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pyroxd1 |
A |
G |
6: 142,291,463 (GRCm39) |
E2G |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,723,550 (GRCm39) |
Q2115K |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,732,129 (GRCm39) |
E44G |
possibly damaging |
Het |
| Slit2 |
A |
T |
5: 48,395,721 (GRCm39) |
N712I |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,095,985 (GRCm39) |
M303T |
possibly damaging |
Het |
| Ssbp4 |
A |
G |
8: 71,052,509 (GRCm39) |
I154T |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,977,778 (GRCm39) |
K1409E |
probably benign |
Het |
| Tfap2b |
T |
C |
1: 19,304,449 (GRCm39) |
Y420H |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,803,261 (GRCm39) |
|
probably null |
Het |
| Tmprss15 |
C |
T |
16: 78,821,637 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
T |
1: 73,959,722 (GRCm39) |
I418N |
probably damaging |
Het |
| Txlna |
A |
T |
4: 129,522,984 (GRCm39) |
V452D |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
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 |
|
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 |
|
R8433: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'- GCTGGGTAAAACTCTTCCCACAGTC -3'
(R):5'- GAGTCTGAGCTTTGTCATGGTCTCC -3'
Sequencing Primer
(F):5'- ACAGTCAGGACACTGATGC -3'
(R):5'- TGTCATGGTCTCCCAGCAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation