Incidental Mutation 'R8100:Zfp764l1'
| ID |
630455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp764l1
|
| Ensembl Gene |
ENSMUSG00000078580 |
| Gene Name |
zinc finger protein 764 like 1 |
| Synonyms |
E430018J23Rik |
| MMRRC Submission |
067532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R8100 (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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
G |
A |
14: 56,009,722 (GRCm39) |
Q777* |
probably null |
Het |
| Art1 |
T |
C |
7: 101,756,405 (GRCm39) |
S199P |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,838,808 (GRCm39) |
M110K |
probably damaging |
Het |
| Cdk13 |
C |
T |
13: 17,978,101 (GRCm39) |
R379Q |
unknown |
Het |
| Cdk7 |
T |
C |
13: 100,842,925 (GRCm39) |
I272V |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,829,148 (GRCm39) |
D192G |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,903,844 (GRCm39) |
|
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,191,258 (GRCm39) |
D223E |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,755,839 (GRCm39) |
R2195H |
probably damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,087,287 (GRCm39) |
R563H |
probably benign |
Het |
| Defa29 |
A |
T |
8: 21,816,990 (GRCm39) |
M1K |
probably null |
Het |
| Dnah11 |
A |
G |
12: 117,930,368 (GRCm39) |
S3326P |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,662,028 (GRCm39) |
D431G |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,169,357 (GRCm39) |
F699I |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,990,685 (GRCm39) |
S1004P |
unknown |
Het |
| Gpr15 |
T |
A |
16: 58,538,076 (GRCm39) |
T338S |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,483,171 (GRCm39) |
Y1002C |
unknown |
Het |
| Hk2 |
C |
T |
6: 82,707,859 (GRCm39) |
M703I |
probably benign |
Het |
| Ifi213 |
A |
C |
1: 173,422,748 (GRCm39) |
L39R |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 26,917,113 (GRCm39) |
A2271S |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,137,899 (GRCm39) |
Q867L |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,492,512 (GRCm39) |
S1427T |
possibly damaging |
Het |
| Lzts1 |
A |
G |
8: 69,593,397 (GRCm39) |
V70A |
probably damaging |
Het |
| Mocs3 |
A |
G |
2: 168,073,257 (GRCm39) |
T235A |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,408,016 (GRCm39) |
R3168H |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,240,802 (GRCm39) |
D260G |
possibly damaging |
Het |
| Nfam1 |
T |
C |
15: 82,900,730 (GRCm39) |
D44G |
probably damaging |
Het |
| Or4a47 |
G |
A |
2: 89,666,029 (GRCm39) |
Q87* |
probably null |
Het |
| Osbpl10 |
G |
A |
9: 114,996,322 (GRCm39) |
R128H |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,949,392 (GRCm39) |
V29L |
probably benign |
Het |
| Pogk |
A |
T |
1: 166,229,511 (GRCm39) |
D113E |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 149,978,472 (GRCm39) |
F195L |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,648,881 (GRCm39) |
E925V |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,326,470 (GRCm39) |
F2714L |
possibly damaging |
Het |
| Rbm20 |
T |
G |
19: 53,839,744 (GRCm39) |
I911S |
possibly damaging |
Het |
| Rwdd2b |
A |
G |
16: 87,233,509 (GRCm39) |
V197A |
possibly damaging |
Het |
| Sel1l2 |
C |
G |
2: 140,117,329 (GRCm39) |
A181P |
probably damaging |
Het |
| Sf1 |
A |
G |
19: 6,422,368 (GRCm39) |
E234G |
possibly damaging |
Het |
| Skint2 |
A |
C |
4: 112,483,197 (GRCm39) |
T201P |
probably damaging |
Het |
| Sra1 |
C |
T |
18: 36,809,948 (GRCm39) |
R199H |
probably damaging |
Het |
| Svs5 |
A |
G |
2: 164,079,712 (GRCm39) |
M65T |
probably benign |
Het |
| Tgif1 |
C |
A |
17: 71,153,544 (GRCm39) |
|
probably benign |
Het |
| Tmem184c |
A |
G |
8: 78,331,411 (GRCm39) |
W113R |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,681,432 (GRCm39) |
R282G |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,540,155 (GRCm39) |
Y244* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,221,861 (GRCm39) |
Y2866C |
probably damaging |
Het |
| Trim7 |
A |
C |
11: 48,740,346 (GRCm39) |
I148L |
probably damaging |
Het |
| Triml1 |
T |
A |
8: 43,591,717 (GRCm39) |
M214L |
probably benign |
Het |
| Usp30 |
T |
G |
5: 114,249,245 (GRCm39) |
V183G |
probably damaging |
Het |
| Vmn1r175 |
G |
A |
7: 23,508,012 (GRCm39) |
S205F |
probably damaging |
Het |
| Zbtb32 |
CTTG |
CTTGTTG |
7: 30,290,946 (GRCm39) |
|
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,960,602 (GRCm39) |
C398S |
probably damaging |
Het |
| Zfp592 |
T |
G |
7: 80,673,940 (GRCm39) |
D301E |
probably benign |
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 |
|
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'- TCGACCCACTTGTTACGACC -3'
(R):5'- GCTCACGGACCTGATATATGTC -3'
Sequencing Primer
(F):5'- ACTTGTTACGACCACCCGTAC -3'
(R):5'- GGCAACCTAGGATCTGGCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation