Incidental Mutation 'R2313:Zfp994'
| ID |
245388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp994
|
| Ensembl Gene |
ENSMUSG00000096433 |
| Gene Name |
zinc finger protein 994 |
| Synonyms |
Gm4944 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R2313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22416246-22444597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22420266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 228
(I228F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179996]
|
| AlphaFold |
J3QM38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179996
AA Change: I228F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136105
Gene: ENSMUSG00000096433
AA Change: I228F
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,390,822 (GRCm39) |
D443V |
probably benign |
Het |
| Ankrd53 |
A |
T |
6: 83,740,662 (GRCm39) |
H95L |
probably damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,809 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cln5 |
C |
T |
14: 103,309,182 (GRCm39) |
R79* |
probably null |
Het |
| Cntn3 |
C |
A |
6: 102,180,889 (GRCm39) |
V769L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,352,470 (GRCm39) |
S550P |
probably benign |
Het |
| Klra7 |
T |
A |
6: 130,205,505 (GRCm39) |
T132S |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,782,045 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,660 (GRCm39) |
R328S |
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,898 (GRCm39) |
E318G |
possibly damaging |
Het |
| Or4c122 |
C |
A |
2: 89,079,285 (GRCm39) |
C239F |
probably damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,431 (GRCm39) |
S93F |
probably damaging |
Het |
| Pglyrp2 |
A |
T |
17: 32,637,673 (GRCm39) |
D118E |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,629 (GRCm39) |
S153P |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,027 (GRCm39) |
S1642G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Unc13d |
A |
G |
11: 115,954,560 (GRCm39) |
F1016S |
probably damaging |
Het |
| Vwa8 |
C |
G |
14: 79,149,658 (GRCm39) |
T140S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,037,150 (GRCm39) |
F2046L |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,312 (GRCm39) |
H316R |
probably damaging |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TGAATTCTCTGATGAGTTCTAAGGC -3'
(R):5'- TACAATGGTGCAAAGCTTGATAAGG -3'
Sequencing Primer
(F):5'- CTGATGAGTTCTAAGGCTGCTTTTG -3'
(R):5'- TGACTCTAAAGAAATCCTCATGTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation