Incidental Mutation 'R8365:Zfp994'
| ID |
646156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp994
|
| Ensembl Gene |
ENSMUSG00000096433 |
| Gene Name |
zinc finger protein 994 |
| Synonyms |
Gm4944 |
| MMRRC Submission |
067736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R8365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22416246-22444597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22420227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 241
(C241S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179996]
|
| AlphaFold |
J3QM38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179996
AA Change: C241S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136105
Gene: ENSMUSG00000096433
AA Change: C241S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,557,918 (GRCm39) |
C79* |
probably null |
Het |
| Abcc9 |
A |
T |
6: 142,544,798 (GRCm39) |
S1430T |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,398,378 (GRCm39) |
K1724R |
possibly damaging |
Het |
| Brf2 |
A |
G |
8: 27,618,566 (GRCm39) |
S13P |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,263,000 (GRCm39) |
K18* |
probably null |
Het |
| Cym |
T |
G |
3: 107,120,182 (GRCm39) |
I306L |
probably benign |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,048 (GRCm39) |
H343L |
probably benign |
Het |
| Cyp2d34 |
T |
C |
15: 82,504,874 (GRCm39) |
Y62C |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,570 (GRCm39) |
S533P |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,176,902 (GRCm39) |
Y619C |
probably damaging |
Het |
| Dnal1 |
T |
A |
12: 84,178,163 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,502,277 (GRCm39) |
M914K |
probably damaging |
Het |
| Epb41l2 |
C |
A |
10: 25,317,584 (GRCm39) |
Q34K |
probably benign |
Het |
| Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,980,739 (GRCm39) |
I238S |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,307,727 (GRCm39) |
K204E |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,303,434 (GRCm39) |
S279L |
probably benign |
Het |
| Hhatl |
A |
G |
9: 121,618,931 (GRCm39) |
M67T |
probably damaging |
Het |
| Itpkc |
C |
A |
7: 26,911,777 (GRCm39) |
R598L |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,329 (GRCm39) |
N73K |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 57,998,311 (GRCm39) |
I263N |
probably damaging |
Het |
| Map1a |
T |
A |
2: 121,138,528 (GRCm39) |
M3002K |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,709 (GRCm39) |
S588T |
possibly damaging |
Het |
| Pcdh8 |
T |
A |
14: 80,008,426 (GRCm39) |
I46F |
probably damaging |
Het |
| Prdm6 |
T |
C |
18: 53,685,137 (GRCm39) |
V392A |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,743,451 (GRCm39) |
I497F |
probably benign |
Het |
| Rorc |
A |
G |
3: 94,282,366 (GRCm39) |
H22R |
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,246,241 (GRCm39) |
I777V |
possibly damaging |
Het |
| Shroom1 |
A |
T |
11: 53,356,468 (GRCm39) |
R444* |
probably null |
Het |
| Srcap |
C |
T |
7: 127,148,869 (GRCm39) |
T2030I |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,793,695 (GRCm39) |
S94P |
probably damaging |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,054,669 (GRCm39) |
T325I |
probably damaging |
Het |
| Ucp1 |
A |
C |
8: 84,020,628 (GRCm39) |
H146P |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,200 (GRCm39) |
I272N |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,034 (GRCm39) |
S127P |
possibly damaging |
Het |
| Vtcn1 |
A |
G |
3: 100,791,145 (GRCm39) |
D61G |
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 |
|
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 |
|
|
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'- GCCTTTGTGGGAAAAGCATTTGTC -3'
(R):5'- TACAATGGTGCAAAGCTTGATAAGG -3'
Sequencing Primer
(F):5'- GTGGGAAAAGCATTTGTCACATTCAC -3'
(R):5'- CTCATGTTGAAACAAACCAAAAGTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation