Incidental Mutation 'R8291:Zfp94'
| ID |
638700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp94
|
| Ensembl Gene |
ENSMUSG00000074282 |
| Gene Name |
zinc finger protein 94 |
| Synonyms |
|
| MMRRC Submission |
067713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R8291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24001129-24016091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24002155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 429
(Y429F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032673]
[ENSMUST00000077780]
[ENSMUST00000108436]
[ENSMUST00000145131]
|
| AlphaFold |
E9Q6Y4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032673
AA Change: Y423F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032673
Gene: ENSMUSG00000074282
AA Change: Y423F
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
59 |
3.06e-19 |
SMART |
|
ZnF_C2H2
|
157 |
179 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
185 |
207 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
213 |
235 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
297 |
319 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
7.9e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077780
|
| SMART Domains |
Protein: ENSMUSP00000076954
Gene: ENSMUSG00000050605
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
63 |
2.28e-27 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
1.5e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108436
AA Change: Y429F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104075
Gene: ENSMUSG00000074282
AA Change: Y429F
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
65 |
3.06e-19 |
SMART |
|
ZnF_C2H2
|
163 |
185 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
191 |
213 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
219 |
241 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
247 |
269 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
275 |
297 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
303 |
325 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
331 |
353 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
359 |
381 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
7.9e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145131
|
| SMART Domains |
Protein: ENSMUSP00000117077
Gene: ENSMUSG00000050605
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
4.63e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,655,017 (GRCm39) |
V1447G |
probably damaging |
Het |
| Adgrf2 |
A |
T |
17: 43,021,451 (GRCm39) |
F458I |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,556,554 (GRCm39) |
E571G |
possibly damaging |
Het |
| Ap1b1 |
T |
A |
11: 4,968,027 (GRCm39) |
N179K |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,715,169 (GRCm39) |
F2053L |
probably damaging |
Het |
| Ddx18 |
A |
G |
1: 121,487,904 (GRCm39) |
V378A |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,263,743 (GRCm39) |
F826S |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,984,701 (GRCm39) |
N3133S |
probably damaging |
Het |
| Fam111a |
A |
G |
19: 12,564,943 (GRCm39) |
T275A |
probably benign |
Het |
| Gm5862 |
A |
T |
5: 26,224,444 (GRCm39) |
V175E |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,331,990 (GRCm39) |
S106P |
possibly damaging |
Het |
| Kmt2b |
A |
G |
7: 30,284,894 (GRCm39) |
L666P |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,425,572 (GRCm39) |
D686G |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,950,432 (GRCm39) |
|
probably null |
Het |
| Or8g52 |
T |
C |
9: 39,630,841 (GRCm39) |
V106A |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,573,662 (GRCm39) |
V323A |
possibly damaging |
Het |
| Prkab2 |
A |
G |
3: 97,569,605 (GRCm39) |
E57G |
possibly damaging |
Het |
| Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
| Smyd2 |
A |
T |
1: 189,632,288 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,968,166 (GRCm39) |
I1208F |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,887,138 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
A |
G |
3: 134,637,910 (GRCm39) |
R356G |
possibly damaging |
Het |
| Tmc4 |
A |
G |
7: 3,674,421 (GRCm39) |
V310A |
probably benign |
Het |
| Tmem205 |
G |
A |
9: 21,832,354 (GRCm39) |
L186F |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,617,553 (GRCm39) |
E16306G |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,915,538 (GRCm39) |
*497W |
probably null |
Het |
| Ubr1 |
G |
A |
2: 120,741,596 (GRCm39) |
T979I |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,255 (GRCm39) |
I259N |
possibly damaging |
Het |
| Vmp1 |
G |
A |
11: 86,498,064 (GRCm39) |
P284S |
probably damaging |
Het |
| Wdsub1 |
A |
G |
2: 59,693,018 (GRCm39) |
S299P |
probably damaging |
Het |
| Zfp438 |
G |
T |
18: 5,211,010 (GRCm39) |
S676* |
probably null |
Het |
|
| Other mutations in Zfp94 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01755:Zfp94
|
APN |
7 |
24,010,906 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02645:Zfp94
|
APN |
7 |
24,003,179 (GRCm39) |
missense |
probably benign |
|
|
R0684:Zfp94
|
UTSW |
7 |
24,002,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Zfp94
|
UTSW |
7 |
24,002,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1644:Zfp94
|
UTSW |
7 |
24,010,927 (GRCm39) |
splice site |
probably benign |
|
|
R1675:Zfp94
|
UTSW |
7 |
24,002,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Zfp94
|
UTSW |
7 |
24,008,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Zfp94
|
UTSW |
7 |
24,008,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3932:Zfp94
|
UTSW |
7 |
24,003,112 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4912:Zfp94
|
UTSW |
7 |
24,003,166 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5663:Zfp94
|
UTSW |
7 |
24,002,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Zfp94
|
UTSW |
7 |
24,002,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Zfp94
|
UTSW |
7 |
24,002,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7710:Zfp94
|
UTSW |
7 |
24,003,107 (GRCm39) |
missense |
probably benign |
|
|
R7810:Zfp94
|
UTSW |
7 |
24,002,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8134:Zfp94
|
UTSW |
7 |
24,003,166 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9421:Zfp94
|
UTSW |
7 |
24,002,978 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Zfp94
|
UTSW |
7 |
24,003,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACCTTTCAGCTTCCAGTTG -3'
(R):5'- CCTATCAATGTGAGGAGTGCG -3'
Sequencing Primer
(F):5'- TCAGCTTCCAGTTGAAATATCAAAC -3'
(R):5'- TCTGTCGGGCCTCCAAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation