Incidental Mutation 'R1075:Zfp994'
| ID |
85630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp994
|
| Ensembl Gene |
ENSMUSG00000096433 |
| Gene Name |
zinc finger protein 994 |
| Synonyms |
Gm4944 |
| MMRRC Submission |
039161-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R1075 (G1)
|
| Quality Score |
84 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22416246-22444597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22419926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 341
(H341L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179996]
|
| AlphaFold |
J3QM38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179996
AA Change: H341L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136105
Gene: ENSMUSG00000096433
AA Change: H341L
| 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: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
| Apbb2 |
G |
T |
5: 66,460,021 (GRCm39) |
P692Q |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,391,567 (GRCm39) |
N627D |
possibly damaging |
Het |
| Asns |
G |
A |
6: 7,676,076 (GRCm39) |
R465* |
probably null |
Het |
| Bdkrb1 |
G |
A |
12: 105,570,562 (GRCm39) |
V43I |
probably benign |
Het |
| Bod1 |
T |
C |
11: 31,621,514 (GRCm39) |
D63G |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Csnka2ip |
T |
A |
16: 64,298,310 (GRCm39) |
K685* |
probably null |
Het |
| Dennd5a |
A |
T |
7: 109,517,808 (GRCm39) |
D609E |
probably benign |
Het |
| Dhx34 |
G |
C |
7: 15,952,274 (GRCm39) |
T117S |
probably benign |
Het |
| Dpp4 |
A |
T |
2: 62,182,630 (GRCm39) |
D550E |
probably benign |
Het |
| Enah |
C |
T |
1: 181,784,066 (GRCm39) |
R81K |
unknown |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Etnppl |
A |
T |
3: 130,423,212 (GRCm39) |
M298L |
probably benign |
Het |
| Fam81a |
G |
A |
9: 70,017,556 (GRCm39) |
R130* |
probably null |
Het |
| Fbxl3 |
A |
C |
14: 103,332,839 (GRCm39) |
H46Q |
probably benign |
Het |
| Gal3st1 |
A |
G |
11: 3,948,509 (GRCm39) |
I239V |
possibly damaging |
Het |
| H2-T15 |
C |
T |
17: 36,367,038 (GRCm39) |
G335D |
probably benign |
Het |
| Htra4 |
T |
C |
8: 25,523,612 (GRCm39) |
I318V |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
| Il7r |
T |
C |
15: 9,516,543 (GRCm39) |
N86S |
probably benign |
Het |
| Mettl17 |
A |
G |
14: 52,127,063 (GRCm39) |
N231D |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,040 (GRCm39) |
D1998G |
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,940,417 (GRCm39) |
R789L |
possibly damaging |
Het |
| Myh7 |
A |
G |
14: 55,224,860 (GRCm39) |
V569A |
probably benign |
Het |
| Nell1 |
A |
G |
7: 50,503,588 (GRCm39) |
I617M |
probably damaging |
Het |
| Nlrp1b |
C |
G |
11: 71,072,512 (GRCm39) |
E444Q |
probably benign |
Het |
| Or10ak16 |
T |
C |
4: 118,750,402 (GRCm39) |
S41P |
probably damaging |
Het |
| Or2b4 |
T |
A |
17: 38,116,660 (GRCm39) |
L208* |
probably null |
Het |
| Or2y8 |
T |
A |
11: 52,035,677 (GRCm39) |
I227F |
possibly damaging |
Het |
| Psmd2 |
T |
C |
16: 20,478,709 (GRCm39) |
S603P |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,644,055 (GRCm39) |
I913N |
possibly damaging |
Het |
| Smyd4 |
T |
C |
11: 75,291,164 (GRCm39) |
Y589H |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,000,992 (GRCm39) |
E1850G |
probably damaging |
Het |
| Srsf11 |
A |
T |
3: 157,718,427 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,058,687 (GRCm39) |
N488I |
possibly damaging |
Het |
| Supt20 |
C |
T |
3: 54,614,362 (GRCm39) |
Q160* |
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
| Uchl1 |
T |
A |
5: 66,839,808 (GRCm39) |
F117I |
probably damaging |
Het |
| Usf1 |
T |
A |
1: 171,245,677 (GRCm39) |
N307K |
probably benign |
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 |
|
R0567:Zfp994
|
UTSW |
17 |
22,419,449 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
2013-11-18 |
Incidental Mutation