Incidental Mutation 'R4933:Zfp764l1'
| ID |
380723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp764l1
|
| Ensembl Gene |
ENSMUSG00000078580 |
| Gene Name |
zinc finger protein 764 like 1 |
| Synonyms |
E430018J23Rik |
| MMRRC Submission |
042533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4933 (G1)
|
| Quality Score |
192 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126988845-126992801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126992521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 30
(Y30H)
|
| 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: Y30H
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073867
Gene: ENSMUSG00000078580
AA Change: Y30H
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
22 |
79 |
4.43e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106303
AA Change: Y30H
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101910
Gene: ENSMUSG00000078580
AA Change: Y30H
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
22 |
81 |
9.25e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122370
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165495
AA Change: Y30H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: Y30H
| 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 |
0.1788 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,276,226 (GRCm39) |
E643G |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,334,839 (GRCm39) |
V1937A |
probably benign |
Het |
| Acot10 |
A |
T |
15: 20,666,416 (GRCm39) |
N108K |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,386 (GRCm39) |
M478K |
probably benign |
Het |
| Akirin1 |
G |
A |
4: 123,630,651 (GRCm39) |
S191F |
probably damaging |
Het |
| Aoc1l3 |
T |
C |
6: 48,964,426 (GRCm39) |
S145P |
probably damaging |
Het |
| Aurkb |
T |
C |
11: 68,938,970 (GRCm39) |
|
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,877,549 (GRCm39) |
|
probably benign |
Het |
| Ccp110 |
A |
G |
7: 118,324,542 (GRCm39) |
E688G |
probably damaging |
Het |
| Champ1 |
T |
A |
8: 13,929,137 (GRCm39) |
S432T |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,875,209 (GRCm39) |
N633I |
probably damaging |
Het |
| Dagla |
A |
T |
19: 10,247,079 (GRCm39) |
|
probably null |
Het |
| Dkkl1 |
A |
T |
7: 44,860,949 (GRCm39) |
L10Q |
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fndc7 |
G |
T |
3: 108,783,986 (GRCm39) |
Q208K |
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,724,796 (GRCm39) |
C53S |
probably damaging |
Het |
| Gja8 |
T |
A |
3: 96,826,351 (GRCm39) |
|
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,524,734 (GRCm39) |
N328K |
probably benign |
Het |
| Haus6 |
A |
C |
4: 86,503,524 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
A |
G |
11: 102,091,389 (GRCm39) |
|
probably benign |
Het |
| Ide |
A |
G |
19: 37,255,155 (GRCm39) |
Y883H |
unknown |
Het |
| Igf2r |
A |
G |
17: 12,910,764 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,943,446 (GRCm39) |
Y723H |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,079,063 (GRCm39) |
|
probably null |
Het |
| Lancl1 |
A |
T |
1: 67,060,193 (GRCm39) |
N77K |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,349 (GRCm39) |
N920K |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,933,963 (GRCm39) |
V3554I |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,136,386 (GRCm39) |
A2163T |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,384,734 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
C |
A |
15: 25,781,204 (GRCm39) |
Q154K |
probably damaging |
Het |
| Or2a7 |
C |
T |
6: 43,151,255 (GRCm39) |
L112F |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,441 (GRCm39) |
I214T |
probably damaging |
Het |
| Pcdhgb2 |
G |
A |
18: 37,825,267 (GRCm39) |
V753M |
probably benign |
Het |
| Pnn |
T |
A |
12: 59,117,013 (GRCm39) |
L195Q |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
| Ppp1r21 |
T |
A |
17: 88,855,049 (GRCm39) |
D109E |
probably benign |
Het |
| Prr15l |
G |
A |
11: 96,825,588 (GRCm39) |
G73S |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,339 (GRCm39) |
F219S |
probably benign |
Het |
| Rnpep |
C |
A |
1: 135,194,764 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,803,723 (GRCm39) |
T643A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,960,831 (GRCm39) |
C36S |
probably damaging |
Het |
| Shc3 |
G |
T |
13: 51,596,805 (GRCm39) |
T406N |
probably benign |
Het |
| Slit3 |
G |
T |
11: 35,579,420 (GRCm39) |
G1199V |
probably damaging |
Het |
| Spata6l |
G |
T |
19: 28,919,175 (GRCm39) |
H195N |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,880,601 (GRCm39) |
|
noncoding transcript |
Het |
| St8sia6 |
T |
C |
2: 13,670,253 (GRCm39) |
N236D |
probably damaging |
Het |
| Stpg1 |
A |
T |
4: 135,233,727 (GRCm39) |
Q3L |
probably benign |
Het |
| Sult3a1 |
T |
A |
10: 33,742,550 (GRCm39) |
I59N |
probably damaging |
Het |
| Vmn1r208 |
T |
G |
13: 22,956,958 (GRCm39) |
I180L |
probably benign |
Het |
| Vmn2r51 |
A |
T |
7: 9,832,247 (GRCm39) |
N446K |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,553,402 (GRCm39) |
I618N |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,812,371 (GRCm39) |
N182S |
probably benign |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
possibly damaging |
Het |
| Zswim2 |
A |
G |
2: 83,755,571 (GRCm39) |
L110P |
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 |
|
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'- ACTTGTTACGACCACCCGTAC -3'
(R):5'- GTGCTCACGGACCTGATATATG -3'
Sequencing Primer
(F):5'- GTACCCAGGGAACTCCGATC -3'
(R):5'- GGACCTGATATATGTCCTTTCTCAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation