Incidental Mutation 'R6471:Zfp93'
| ID |
516696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp93
|
| Ensembl Gene |
ENSMUSG00000055305 |
| Gene Name |
zinc finger protein 93 |
| Synonyms |
|
| MMRRC Submission |
044604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23969845-23977219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23972754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 33
(Y33H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032696]
[ENSMUST00000108438]
|
| AlphaFold |
Q61116 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032696
AA Change: Y33H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032696
Gene: ENSMUSG00000055305
AA Change: Y33H
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
74 |
8.06e-19 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
5.5e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108438
AA Change: Y33H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104077
Gene: ENSMUSG00000055305
AA Change: Y33H
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
74 |
8.06e-19 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
5.5e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155851
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.6%
|
| Validation Efficiency |
97% (29/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Birc2 |
A |
G |
9: 7,857,421 (GRCm39) |
S351P |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,511,938 (GRCm39) |
V319A |
probably damaging |
Het |
| Ccdc86 |
A |
G |
19: 10,926,243 (GRCm39) |
S119P |
unknown |
Het |
| Ciao2a |
T |
A |
9: 66,034,139 (GRCm39) |
V4E |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,995,409 (GRCm39) |
R26G |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,778,612 (GRCm39) |
V437A |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,938,228 (GRCm39) |
S352P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,017,166 (GRCm39) |
V607A |
probably damaging |
Het |
| Fam227b |
A |
T |
2: 125,962,985 (GRCm39) |
V177D |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gdap1 |
T |
A |
1: 17,230,249 (GRCm39) |
N227K |
possibly damaging |
Het |
| Glod4 |
A |
T |
11: 76,124,744 (GRCm39) |
F185L |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lrrc37 |
T |
A |
11: 103,510,448 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
C |
T |
1: 127,744,991 (GRCm39) |
V1488M |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,958,110 (GRCm39) |
M326K |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,165,543 (GRCm39) |
L795P |
probably damaging |
Het |
| Plcg1 |
A |
G |
2: 160,595,630 (GRCm39) |
D526G |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,582,563 (GRCm39) |
I1492V |
probably damaging |
Het |
| Rbfa |
G |
T |
18: 80,243,673 (GRCm39) |
S31* |
probably null |
Het |
| Rnft1 |
T |
C |
11: 86,382,508 (GRCm39) |
Y244H |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,693,003 (GRCm39) |
G208R |
probably benign |
Het |
| Tex15 |
G |
T |
8: 34,071,762 (GRCm39) |
Q2436H |
probably damaging |
Het |
| Ttbk1 |
A |
G |
17: 46,778,203 (GRCm39) |
L613P |
probably benign |
Het |
| Tuba1b |
T |
C |
15: 98,830,328 (GRCm39) |
K164R |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,384,511 (GRCm39) |
L669P |
probably damaging |
Homo |
| Vmn1r169 |
A |
G |
7: 23,276,970 (GRCm39) |
T121A |
probably benign |
Het |
| Vmn2r51 |
A |
C |
7: 9,836,510 (GRCm39) |
D90E |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,710,431 (GRCm39) |
H718R |
probably benign |
Het |
|
| Other mutations in Zfp93 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00660:Zfp93
|
APN |
7 |
23,975,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Zfp93
|
APN |
7 |
23,974,509 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02956:Zfp93
|
APN |
7 |
23,974,400 (GRCm39) |
missense |
probably benign |
0.25 |
|
FR4342:Zfp93
|
UTSW |
7 |
23,975,011 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
FR4737:Zfp93
|
UTSW |
7 |
23,974,814 (GRCm39) |
small deletion |
probably benign |
|
|
R0099:Zfp93
|
UTSW |
7 |
23,974,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0376:Zfp93
|
UTSW |
7 |
23,975,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Zfp93
|
UTSW |
7 |
23,975,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Zfp93
|
UTSW |
7 |
23,975,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1511:Zfp93
|
UTSW |
7 |
23,975,156 (GRCm39) |
nonsense |
probably null |
|
|
R1628:Zfp93
|
UTSW |
7 |
23,974,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4581:Zfp93
|
UTSW |
7 |
23,975,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Zfp93
|
UTSW |
7 |
23,974,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5162:Zfp93
|
UTSW |
7 |
23,975,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Zfp93
|
UTSW |
7 |
23,975,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Zfp93
|
UTSW |
7 |
23,975,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Zfp93
|
UTSW |
7 |
23,975,054 (GRCm39) |
nonsense |
probably null |
|
|
R6694:Zfp93
|
UTSW |
7 |
23,975,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Zfp93
|
UTSW |
7 |
23,974,806 (GRCm39) |
nonsense |
probably null |
|
|
R7543:Zfp93
|
UTSW |
7 |
23,974,533 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7623:Zfp93
|
UTSW |
7 |
23,975,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Zfp93
|
UTSW |
7 |
23,974,643 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7957:Zfp93
|
UTSW |
7 |
23,974,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Zfp93
|
UTSW |
7 |
23,975,885 (GRCm39) |
nonsense |
probably null |
|
|
R8194:Zfp93
|
UTSW |
7 |
23,975,479 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9700:Zfp93
|
UTSW |
7 |
23,974,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCCCAGCAATAGAAGCCC -3'
(R):5'- AATCAAATTTCTGGGCAAGCCTA -3'
Sequencing Primer
(F):5'- CCTAAGACAACAGGCTCTGTGTAAG -3'
(R):5'- ATCTGTAAGTCCAGGTCCAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation