Incidental Mutation 'R0567:Zfp994'
| ID |
46232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp994
|
| Ensembl Gene |
ENSMUSG00000096433 |
| Gene Name |
zinc finger protein 994 |
| Synonyms |
Gm4944 |
| MMRRC Submission |
038758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R0567 (G1)
|
| Quality Score |
161 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22416246-22444597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22419449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 500
(Y500C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179996]
|
| AlphaFold |
J3QM38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179996
AA Change: Y500C
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136105
Gene: ENSMUSG00000096433
AA Change: Y500C
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
3.33e-20 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
491 |
513 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
519 |
541 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
547 |
569 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
575 |
597 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
603 |
625 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
631 |
653 |
9.22e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
| Akr1b1 |
A |
T |
6: 34,281,280 (GRCm39) |
|
probably null |
Het |
| Alox8 |
A |
T |
11: 69,082,348 (GRCm39) |
|
probably null |
Het |
| Apcdd1 |
G |
A |
18: 63,067,107 (GRCm39) |
E74K |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,747,882 (GRCm39) |
V388A |
probably benign |
Het |
| AW554918 |
G |
A |
18: 25,533,092 (GRCm39) |
E452K |
possibly damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,874 (GRCm39) |
D240G |
probably damaging |
Het |
| Ceacam10 |
T |
A |
7: 24,477,834 (GRCm39) |
D116E |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,293,231 (GRCm39) |
V912L |
possibly damaging |
Het |
| Cyp3a11 |
G |
A |
5: 145,805,959 (GRCm39) |
T136I |
probably damaging |
Het |
| Denr |
C |
T |
5: 124,046,221 (GRCm39) |
T17M |
probably benign |
Het |
| Doc2b |
A |
G |
11: 75,670,950 (GRCm39) |
F227S |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,376,414 (GRCm39) |
T1400S |
probably benign |
Het |
| Egfr |
A |
T |
11: 16,822,873 (GRCm39) |
D412V |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,222,734 (GRCm39) |
G1949D |
possibly damaging |
Het |
| Gstp3 |
A |
T |
19: 4,107,636 (GRCm39) |
L176Q |
possibly damaging |
Het |
| H2ac12 |
T |
C |
13: 22,219,734 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
T |
A |
12: 51,956,872 (GRCm39) |
N1075I |
probably damaging |
Het |
| Ighv1-69 |
C |
T |
12: 115,587,169 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,682,309 (GRCm39) |
I1092V |
probably benign |
Het |
| Lipg |
A |
T |
18: 75,090,440 (GRCm39) |
H36Q |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,468,318 (GRCm39) |
W836R |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,271,800 (GRCm39) |
C186S |
probably damaging |
Het |
| Or4m1 |
A |
T |
14: 50,558,115 (GRCm39) |
M59K |
probably damaging |
Het |
| P2ry2 |
T |
C |
7: 100,647,748 (GRCm39) |
T186A |
probably damaging |
Het |
| Pyroxd2 |
T |
C |
19: 42,724,364 (GRCm39) |
T300A |
probably benign |
Het |
| Rab26 |
C |
A |
17: 24,748,556 (GRCm39) |
V283F |
probably damaging |
Het |
| Rad50 |
C |
T |
11: 53,545,783 (GRCm39) |
R1180Q |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,112,312 (GRCm39) |
D1891G |
possibly damaging |
Het |
| Syne2 |
G |
A |
12: 75,937,004 (GRCm39) |
E201K |
probably damaging |
Het |
| Taf6 |
A |
T |
5: 138,181,988 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,050,059 (GRCm39) |
M493K |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,663 (GRCm39) |
T1017A |
probably benign |
Het |
| Usp17le |
C |
T |
7: 104,418,105 (GRCm39) |
V346I |
possibly damaging |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,556 (GRCm39) |
D44G |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,665 (GRCm39) |
I830M |
possibly damaging |
Het |
| Yju2b |
A |
G |
8: 84,987,294 (GRCm39) |
L93P |
probably damaging |
Het |
| Zscan20 |
A |
G |
4: 128,483,243 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zfp994 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Zfp994
|
APN |
17 |
22,421,649 (GRCm39) |
splice site |
probably benign |
|
|
IGL03065:Zfp994
|
APN |
17 |
22,421,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
dreamer
|
UTSW |
17 |
22,424,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fanciful
|
UTSW |
17 |
22,420,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Zfp994
|
UTSW |
17 |
22,419,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0498:Zfp994
|
UTSW |
17 |
22,419,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1075:Zfp994
|
UTSW |
17 |
22,419,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1561:Zfp994
|
UTSW |
17 |
22,420,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Zfp994
|
UTSW |
17 |
22,419,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2313:Zfp994
|
UTSW |
17 |
22,420,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4486:Zfp994
|
UTSW |
17 |
22,420,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Zfp994
|
UTSW |
17 |
22,419,448 (GRCm39) |
nonsense |
probably null |
|
|
R4924:Zfp994
|
UTSW |
17 |
22,419,738 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5394:Zfp994
|
UTSW |
17 |
22,419,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Zfp994
|
UTSW |
17 |
22,420,694 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5746:Zfp994
|
UTSW |
17 |
22,420,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6275:Zfp994
|
UTSW |
17 |
22,418,972 (GRCm39) |
nonsense |
probably null |
|
|
R6459:Zfp994
|
UTSW |
17 |
22,419,527 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6668:Zfp994
|
UTSW |
17 |
22,420,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Zfp994
|
UTSW |
17 |
22,419,049 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7625:Zfp994
|
UTSW |
17 |
22,420,736 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7709:Zfp994
|
UTSW |
17 |
22,419,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7725:Zfp994
|
UTSW |
17 |
22,419,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7756:Zfp994
|
UTSW |
17 |
22,419,828 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7758:Zfp994
|
UTSW |
17 |
22,419,828 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7959:Zfp994
|
UTSW |
17 |
22,421,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8033:Zfp994
|
UTSW |
17 |
22,419,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8199:Zfp994
|
UTSW |
17 |
22,419,204 (GRCm39) |
nonsense |
probably null |
|
|
R8365:Zfp994
|
UTSW |
17 |
22,420,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Zfp994
|
UTSW |
17 |
22,419,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8893:Zfp994
|
UTSW |
17 |
22,424,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Zfp994
|
UTSW |
17 |
22,418,981 (GRCm39) |
missense |
unknown |
|
|
R9530:Zfp994
|
UTSW |
17 |
22,420,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9587:Zfp994
|
UTSW |
17 |
22,421,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2013-06-11 |
Incidental Mutation