Incidental Mutation 'R8199:Zfp994'
ID |
635608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp994
|
Ensembl Gene |
ENSMUSG00000096433 |
Gene Name |
zinc finger protein 994 |
Synonyms |
Gm4944 |
MMRRC Submission |
067622-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R8199 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
22416246-22444597 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 22419204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 582
(K582*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179996]
|
AlphaFold |
J3QM38 |
Predicted Effect |
probably null
Transcript: ENSMUST00000179996
AA Change: K582*
|
SMART Domains |
Protein: ENSMUSP00000136105 Gene: ENSMUSG00000096433 AA Change: K582*
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: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,275,304 (GRCm39) |
Y336H |
probably damaging |
Het |
4930563I02Rik |
A |
G |
14: 60,333,388 (GRCm39) |
I42M |
noncoding transcript |
Het |
Acad9 |
T |
C |
3: 36,139,572 (GRCm39) |
S391P |
probably damaging |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,651,545 (GRCm39) |
T972A |
probably benign |
Het |
Col25a1 |
G |
A |
3: 130,345,628 (GRCm39) |
G406E |
probably damaging |
Het |
Coro2b |
T |
G |
9: 62,336,302 (GRCm39) |
I267L |
probably benign |
Het |
Cst12 |
A |
G |
2: 148,631,459 (GRCm39) |
N60S |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,090,393 (GRCm39) |
I4632F |
probably benign |
Het |
Eif3d |
C |
T |
15: 77,844,292 (GRCm39) |
C404Y |
possibly damaging |
Het |
Elapor2 |
C |
T |
5: 9,470,657 (GRCm39) |
T260M |
probably damaging |
Het |
Fam43a |
A |
T |
16: 30,419,586 (GRCm39) |
K57* |
probably null |
Het |
Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
Fggy |
G |
A |
4: 95,700,381 (GRCm39) |
E351K |
probably benign |
Het |
Gabra6 |
G |
A |
11: 42,207,280 (GRCm39) |
S268L |
probably damaging |
Het |
Gatm |
A |
G |
2: 122,432,994 (GRCm39) |
Y223H |
probably damaging |
Het |
Gli3 |
T |
A |
13: 15,900,576 (GRCm39) |
M1321K |
probably benign |
Het |
Hira |
G |
A |
16: 18,766,194 (GRCm39) |
A669T |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
Kdm2a |
T |
A |
19: 4,439,054 (GRCm39) |
Q25L |
unknown |
Het |
Loxhd1 |
C |
A |
18: 77,469,334 (GRCm39) |
N1000K |
possibly damaging |
Het |
Mpdu1 |
C |
T |
11: 69,548,069 (GRCm39) |
W235* |
probably null |
Het |
Msantd2 |
G |
C |
9: 37,400,789 (GRCm39) |
G57A |
probably benign |
Het |
Nat1 |
A |
G |
8: 67,943,650 (GRCm39) |
R9G |
probably damaging |
Het |
Nbl1 |
G |
A |
4: 138,810,880 (GRCm39) |
P105S |
probably damaging |
Het |
Or2j3 |
T |
C |
17: 38,615,444 (GRCm39) |
R303G |
probably benign |
Het |
Or52e4 |
A |
C |
7: 104,705,852 (GRCm39) |
Q133P |
probably damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Pdzrn3 |
T |
C |
6: 101,128,918 (GRCm39) |
S583G |
probably damaging |
Het |
Prpf4 |
A |
G |
4: 62,340,866 (GRCm39) |
D427G |
probably damaging |
Het |
Ptpn21 |
T |
A |
12: 98,644,841 (GRCm39) |
I1167F |
possibly damaging |
Het |
Rasgrp1 |
T |
A |
2: 117,124,293 (GRCm39) |
H303L |
probably damaging |
Het |
Ros1 |
T |
A |
10: 51,977,813 (GRCm39) |
K1499* |
probably null |
Het |
Skida1 |
C |
A |
2: 18,052,959 (GRCm39) |
L64F |
probably damaging |
Het |
St3gal5 |
T |
C |
6: 72,119,175 (GRCm39) |
Y123H |
probably benign |
Het |
Syk |
T |
C |
13: 52,778,768 (GRCm39) |
S285P |
probably benign |
Het |
Syt4 |
T |
C |
18: 31,577,268 (GRCm39) |
T29A |
probably benign |
Het |
Trav7-3 |
A |
G |
14: 53,681,099 (GRCm39) |
D47G |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,691,918 (GRCm39) |
F146L |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,634,337 (GRCm39) |
D786E |
probably benign |
Het |
Uts2 |
G |
A |
4: 151,086,115 (GRCm39) |
C117Y |
possibly damaging |
Het |
Zfp553 |
T |
C |
7: 126,835,468 (GRCm39) |
L341P |
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 |
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 |
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'- TTATGGGAAAAGCATTTGTCACATTC -3'
(R):5'- TTTTACCCTGAAAGGCCATCT -3'
Sequencing Primer
(F):5'- GGAAAAGCATTTGTCACATTCACTAC -3'
(R):5'- GTTCATCAGCGCATTCACATAGGAG -3'
|
Posted On |
2020-07-13 |