Incidental Mutation 'R1177:Zfp94'
ID |
100053 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp94
|
Ensembl Gene |
ENSMUSG00000074282 |
Gene Name |
zinc finger protein 94 |
Synonyms |
|
MMRRC Submission |
039249-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R1177 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24001129-24016091 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24002953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 163
(Y163C)
|
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: Y157C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032673 Gene: ENSMUSG00000074282 AA Change: Y157C
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: Y163C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104075 Gene: ENSMUSG00000074282 AA Change: Y163C
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 |
noncoding transcript
Transcript: ENSMUST00000128421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139811
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146817
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206535
|
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: 99.4%
- 3x: 98.3%
- 10x: 94.9%
- 20x: 87.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bbs7 |
A |
T |
3: 36,664,329 (GRCm39) |
|
probably null |
Het |
Bivm |
G |
A |
1: 44,182,123 (GRCm39) |
V444I |
probably benign |
Het |
Cers4 |
A |
G |
8: 4,566,931 (GRCm39) |
I78V |
probably null |
Het |
Chgb |
A |
G |
2: 132,635,390 (GRCm39) |
Y444C |
possibly damaging |
Het |
Col7a1 |
T |
C |
9: 108,791,509 (GRCm39) |
V1161A |
unknown |
Het |
Dpp6 |
A |
G |
5: 27,868,471 (GRCm39) |
D478G |
possibly damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,179,902 (GRCm39) |
V274A |
probably damaging |
Het |
Fkrp |
T |
C |
7: 16,544,452 (GRCm39) |
E470G |
probably damaging |
Het |
Lrrc8c |
T |
C |
5: 105,754,702 (GRCm39) |
I159T |
probably benign |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Map3k21 |
A |
T |
8: 126,671,577 (GRCm39) |
Q955L |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,232,968 (GRCm39) |
S1115P |
probably damaging |
Het |
Mga |
T |
C |
2: 119,756,927 (GRCm39) |
F1048S |
probably damaging |
Het |
Mthfd1l |
A |
C |
10: 3,935,661 (GRCm39) |
K212T |
possibly damaging |
Het |
Myo5b |
G |
A |
18: 74,777,143 (GRCm39) |
R401H |
probably damaging |
Het |
Naip1 |
C |
T |
13: 100,563,572 (GRCm39) |
S531N |
possibly damaging |
Het |
Nlrp1a |
A |
G |
11: 70,998,547 (GRCm39) |
V884A |
probably damaging |
Het |
Nop58 |
T |
A |
1: 59,740,091 (GRCm39) |
M161K |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,109,310 (GRCm39) |
T1618A |
probably benign |
Het |
Or10d4 |
A |
G |
9: 39,580,937 (GRCm39) |
R195G |
probably benign |
Het |
Or2b4 |
A |
T |
17: 38,116,843 (GRCm39) |
E269V |
probably benign |
Het |
Or4c105 |
A |
G |
2: 88,647,704 (GRCm39) |
Y63C |
probably benign |
Het |
Ppp4r4 |
G |
A |
12: 103,542,582 (GRCm39) |
A115T |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,472,623 (GRCm39) |
R840G |
probably benign |
Het |
Slc44a2 |
A |
T |
9: 21,259,879 (GRCm39) |
Q629L |
probably benign |
Het |
Slc5a6 |
A |
G |
5: 31,196,646 (GRCm39) |
|
probably null |
Het |
Spag1 |
A |
T |
15: 36,234,913 (GRCm39) |
T859S |
probably benign |
Het |
Sv2c |
G |
T |
13: 96,126,271 (GRCm39) |
A327E |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tlr2 |
A |
G |
3: 83,746,041 (GRCm39) |
I14T |
probably benign |
Het |
Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,065,028 (GRCm39) |
V1688A |
possibly damaging |
Het |
Zfhx4 |
ACCTCCTCCTCCTCCTCCTCC |
ACCTCCTCCTCCTCCTCC |
3: 5,465,891 (GRCm39) |
|
probably benign |
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 |
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 |
R8291:Zfp94
|
UTSW |
7 |
24,002,155 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-01-15 |