Incidental Mutation 'R6712:Zfp764l1'
| ID |
529168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp764l1
|
| Ensembl Gene |
ENSMUSG00000078580 |
| Gene Name |
zinc finger protein 764 like 1 |
| Synonyms |
E430018J23Rik |
| MMRRC Submission |
044830-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6712 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126988845-126992801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126991482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 168
(H168Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074249]
[ENSMUST00000106303]
[ENSMUST00000165495]
|
| AlphaFold |
E9PZQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074249
|
| SMART Domains |
Protein: ENSMUSP00000073867
Gene: ENSMUSG00000078580
| 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 |
probably damaging
Transcript: ENSMUST00000165495
AA Change: H168Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: H168Q
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
G |
A |
17: 32,551,862 (GRCm39) |
T443M |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,798,644 (GRCm39) |
V950D |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,733,852 (GRCm39) |
K3014E |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,318,908 (GRCm39) |
Y1586H |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,014,457 (GRCm39) |
I2010N |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,514,583 (GRCm39) |
M1446L |
probably benign |
Het |
| Fcmr |
T |
C |
1: 130,805,588 (GRCm39) |
L274P |
probably damaging |
Het |
| Foxn1 |
T |
G |
11: 78,252,085 (GRCm39) |
D382A |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,226,993 (GRCm39) |
R1721G |
possibly damaging |
Het |
| H2aj |
A |
G |
6: 136,785,524 (GRCm39) |
I63V |
probably benign |
Het |
| Mfsd9 |
T |
C |
1: 40,825,601 (GRCm39) |
|
probably null |
Het |
| Mis18a |
T |
C |
16: 90,524,045 (GRCm39) |
E39G |
possibly damaging |
Het |
| Mmp27 |
A |
T |
9: 7,572,177 (GRCm39) |
T126S |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myo5a |
A |
C |
9: 75,120,182 (GRCm39) |
D1635A |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,253,645 (GRCm39) |
V11A |
probably benign |
Het |
| Nlrc4 |
A |
T |
17: 74,753,831 (GRCm39) |
M184K |
probably damaging |
Het |
| Or10h28 |
T |
G |
17: 33,488,242 (GRCm39) |
H181Q |
possibly damaging |
Het |
| Or52e15 |
A |
T |
7: 104,645,625 (GRCm39) |
I162K |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,488,051 (GRCm39) |
Q81K |
probably benign |
Het |
| Pfdn2 |
T |
A |
1: 171,185,419 (GRCm39) |
I97K |
probably damaging |
Het |
| Pknox1 |
C |
A |
17: 31,814,290 (GRCm39) |
T205K |
probably benign |
Het |
| Polh |
T |
C |
17: 46,501,655 (GRCm39) |
S179G |
probably benign |
Het |
| Ppp4r4 |
G |
A |
12: 103,562,702 (GRCm39) |
R557Q |
probably damaging |
Het |
| Sipa1 |
A |
T |
19: 5,710,847 (GRCm39) |
D54E |
possibly damaging |
Het |
| Tmc8 |
C |
A |
11: 117,675,639 (GRCm39) |
N185K |
probably benign |
Het |
| Tns1 |
C |
A |
1: 74,118,460 (GRCm39) |
E57* |
probably null |
Het |
| Tyro3 |
G |
A |
2: 119,635,335 (GRCm39) |
A209T |
probably null |
Het |
| Ube2f |
T |
A |
1: 91,204,171 (GRCm39) |
C116S |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,109,992 (GRCm39) |
T308A |
possibly damaging |
Het |
| Wwc2 |
T |
A |
8: 48,353,838 (GRCm39) |
M99L |
probably benign |
Het |
| Zfp516 |
C |
T |
18: 82,975,433 (GRCm39) |
R544C |
probably 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 |
|
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'- ACTCTTCCCACAGTCAGGAC -3'
(R):5'- ATGGTCTCCCAGCAGATTGC -3'
Sequencing Primer
(F):5'- ACACTGATGCGGCCGTTC -3'
(R):5'- GCAGATTGCAGGCACGAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation