Incidental Mutation 'R1406:Zfp839'
| ID |
160396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp839
|
| Ensembl Gene |
ENSMUSG00000021271 |
| Gene Name |
zinc finger protein 839 |
| Synonyms |
2810455K09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
110816687-110836430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110832744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 554
(T554M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170060]
[ENSMUST00000222460]
|
| AlphaFold |
E9PUU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170060
AA Change: T554M
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131841
Gene: ENSMUSG00000021271
AA Change: T554M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
271 |
278 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
295 |
320 |
3.02e0 |
SMART |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222460
AA Change: T478M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.2%
- 10x: 92.2%
- 20x: 76.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,034,304 (GRCm39) |
G84C |
probably damaging |
Het |
| BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 121,837,349 (GRCm39) |
R371Q |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,689,402 (GRCm39) |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,406 (GRCm39) |
I474T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
| Or10z1 |
T |
A |
1: 174,078,427 (GRCm39) |
E22V |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,835,582 (GRCm39) |
V303M |
possibly damaging |
Het |
| Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
| Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,217,657 (GRCm39) |
M153V |
probably benign |
Het |
| Sp110 |
T |
G |
1: 85,506,800 (GRCm39) |
E421A |
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
|
| Other mutations in Zfp839 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Zfp839
|
APN |
12 |
110,831,441 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00941:Zfp839
|
APN |
12 |
110,827,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Zfp839
|
UTSW |
12 |
110,834,820 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0013:Zfp839
|
UTSW |
12 |
110,834,820 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0109:Zfp839
|
UTSW |
12 |
110,827,308 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0116:Zfp839
|
UTSW |
12 |
110,825,203 (GRCm39) |
intron |
probably benign |
|
|
R1219:Zfp839
|
UTSW |
12 |
110,834,707 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1406:Zfp839
|
UTSW |
12 |
110,832,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1434:Zfp839
|
UTSW |
12 |
110,827,333 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1653:Zfp839
|
UTSW |
12 |
110,821,684 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1754:Zfp839
|
UTSW |
12 |
110,821,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2182:Zfp839
|
UTSW |
12 |
110,834,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3765:Zfp839
|
UTSW |
12 |
110,821,597 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3981:Zfp839
|
UTSW |
12 |
110,832,765 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4756:Zfp839
|
UTSW |
12 |
110,821,635 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5088:Zfp839
|
UTSW |
12 |
110,834,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5394:Zfp839
|
UTSW |
12 |
110,822,020 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5619:Zfp839
|
UTSW |
12 |
110,830,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Zfp839
|
UTSW |
12 |
110,833,195 (GRCm39) |
nonsense |
probably null |
|
|
R7661:Zfp839
|
UTSW |
12 |
110,835,226 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7860:Zfp839
|
UTSW |
12 |
110,822,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Zfp839
|
UTSW |
12 |
110,821,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Zfp839
|
UTSW |
12 |
110,834,848 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8866:Zfp839
|
UTSW |
12 |
110,834,848 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8896:Zfp839
|
UTSW |
12 |
110,835,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Zfp839
|
UTSW |
12 |
110,834,878 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9606:Zfp839
|
UTSW |
12 |
110,834,776 (GRCm39) |
missense |
probably benign |
|
|
R9668:Zfp839
|
UTSW |
12 |
110,822,280 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9686:Zfp839
|
UTSW |
12 |
110,821,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zfp839
|
UTSW |
12 |
110,833,218 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTCGCTCACAAAACAGTGC -3'
(R):5'- TGGGACGACCCACAAAATATGTGAC -3'
Sequencing Primer
(F):5'- ACTGTTTCCCTTCAGGTTGC -3'
(R):5'- cacacagacaacaaccacatag -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation