Incidental Mutation 'R6668:Zfp994'
| ID |
527082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp994
|
| Ensembl Gene |
ENSMUSG00000096433 |
| Gene Name |
zinc finger protein 994 |
| Synonyms |
Gm4944 |
| MMRRC Submission |
044788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R6668 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
22416246-22444597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22420081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 289
(H289Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179996]
|
| AlphaFold |
J3QM38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179996
AA Change: H289Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136105
Gene: ENSMUSG00000096433
AA Change: H289Q
| 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 |
|
| Meta Mutation Damage Score |
0.6209 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
G |
T |
11: 116,486,868 (GRCm39) |
|
probably benign |
Het |
| Adam26b |
A |
T |
8: 43,973,727 (GRCm39) |
V425D |
possibly damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,579,972 (GRCm39) |
S2077P |
probably benign |
Het |
| Amacr |
A |
G |
15: 10,983,468 (GRCm39) |
T93A |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,930,728 (GRCm39) |
|
probably null |
Het |
| Bcas3 |
G |
A |
11: 85,692,677 (GRCm39) |
R354Q |
probably damaging |
Het |
| Chia1 |
C |
T |
3: 106,038,264 (GRCm39) |
L387F |
probably damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,327,805 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
G |
A |
9: 64,794,247 (GRCm39) |
G689S |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,688,039 (GRCm39) |
A18V |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,067,929 (GRCm39) |
V80E |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,704,617 (GRCm39) |
T430S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,577,618 (GRCm39) |
I213V |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,396,263 (GRCm39) |
R53* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,412,683 (GRCm39) |
N1524S |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,297,864 (GRCm39) |
S1104F |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,652,852 (GRCm39) |
V326A |
possibly damaging |
Het |
| Mlst8 |
A |
G |
17: 24,696,453 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
T |
9: 18,551,681 (GRCm39) |
S4871T |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,474,701 (GRCm39) |
|
probably benign |
Het |
| Ndufa3 |
A |
G |
7: 3,622,465 (GRCm39) |
Y41C |
probably damaging |
Het |
| Nfkbid |
T |
A |
7: 30,123,866 (GRCm39) |
L142Q |
probably benign |
Het |
| Or8b38 |
T |
A |
9: 37,973,066 (GRCm39) |
M150K |
possibly damaging |
Het |
| Peg10 |
T |
A |
6: 4,754,502 (GRCm39) |
D94E |
probably benign |
Het |
| Phactr3 |
A |
T |
2: 177,974,657 (GRCm39) |
I492F |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,492,396 (GRCm39) |
V1751A |
possibly damaging |
Het |
| Prss16 |
T |
C |
13: 22,190,918 (GRCm39) |
E238G |
probably null |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,647 (GRCm39) |
V523A |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,547,498 (GRCm39) |
S223T |
probably benign |
Het |
| Ryk |
T |
A |
9: 102,746,475 (GRCm39) |
F137I |
possibly damaging |
Het |
| Sars2 |
G |
A |
7: 28,446,429 (GRCm39) |
E194K |
probably benign |
Het |
| Spata2l |
T |
C |
8: 123,960,167 (GRCm39) |
D374G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,592 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,192,652 (GRCm39) |
K1097E |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,017,408 (GRCm39) |
V690E |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,410,659 (GRCm39) |
N2703S |
probably damaging |
Het |
| Zfp273 |
C |
G |
13: 67,973,243 (GRCm39) |
L124V |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,031,091 (GRCm39) |
S950P |
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 |
|
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'- GTAAAGCCTTTGTCACATTCACTAC -3'
(R):5'- TACAATGGTGCAAAGCTTGATAAGG -3'
Sequencing Primer
(F):5'- GTCACATTCACTACATCTGTAAGG -3'
(R):5'- TGTGCCAAATGTTTTGCCAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation