Incidental Mutation 'R7071:Zfp599'
ID |
548909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp599
|
Ensembl Gene |
ENSMUSG00000062794 |
Gene Name |
zinc finger protein 599 |
Synonyms |
|
MMRRC Submission |
045167-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R7071 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
22158726-22171191 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22169392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 27
(T27A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086281]
|
AlphaFold |
E9PWP1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086281
AA Change: T27A
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000083462 Gene: ENSMUSG00000062794 AA Change: T27A
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
5.35e-33 |
SMART |
ZnF_C2H2
|
228 |
250 |
5.59e-4 |
SMART |
ZnF_C2H2
|
256 |
278 |
2.43e-4 |
SMART |
ZnF_C2H2
|
284 |
306 |
1.69e-3 |
SMART |
ZnF_C2H2
|
312 |
334 |
8.94e-3 |
SMART |
ZnF_C2H2
|
340 |
362 |
8.47e-4 |
SMART |
ZnF_C2H2
|
368 |
390 |
5.06e-2 |
SMART |
ZnF_C2H2
|
396 |
418 |
7.9e-4 |
SMART |
ZnF_C2H2
|
424 |
446 |
7.67e-2 |
SMART |
ZnF_C2H2
|
452 |
474 |
1.64e-1 |
SMART |
ZnF_C2H2
|
480 |
503 |
7.37e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
95% (41/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,449,503 (GRCm39) |
Q854* |
probably null |
Het |
Arl2bp |
G |
T |
8: 95,393,794 (GRCm39) |
|
probably benign |
Het |
Astl |
T |
C |
2: 127,187,885 (GRCm39) |
M121T |
probably benign |
Het |
Atrip |
T |
C |
9: 108,896,082 (GRCm39) |
|
probably null |
Het |
Camk1g |
A |
T |
1: 193,042,117 (GRCm39) |
V44E |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,866,455 (GRCm39) |
H804R |
probably benign |
Het |
Cd300a |
T |
C |
11: 114,792,099 (GRCm39) |
S314P |
probably damaging |
Het |
Ceacam5 |
A |
T |
7: 17,484,577 (GRCm39) |
I440L |
possibly damaging |
Het |
Cfap61 |
T |
G |
2: 145,843,832 (GRCm39) |
I306R |
probably benign |
Het |
Cnot10 |
T |
C |
9: 114,446,787 (GRCm39) |
|
probably null |
Het |
Cntln |
T |
A |
4: 85,018,622 (GRCm39) |
L76Q |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,204,795 (GRCm39) |
C636R |
probably benign |
Het |
Dnm3 |
A |
T |
1: 161,847,412 (GRCm39) |
H148Q |
probably damaging |
Het |
Dot1l |
T |
A |
10: 80,628,079 (GRCm39) |
L1039Q |
probably benign |
Het |
Faiml |
T |
A |
9: 99,118,400 (GRCm39) |
M1L |
unknown |
Het |
Fat1 |
T |
G |
8: 45,442,145 (GRCm39) |
I1149S |
possibly damaging |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gm11938 |
A |
T |
11: 99,493,910 (GRCm39) |
C62S |
probably damaging |
Het |
Gtf2i |
A |
G |
5: 134,292,475 (GRCm39) |
L423S |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,479,853 (GRCm39) |
C4582S |
probably damaging |
Het |
Ifitm3 |
A |
G |
7: 140,590,437 (GRCm39) |
V41A |
probably benign |
Het |
Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
Khsrp |
C |
A |
17: 57,332,386 (GRCm39) |
M268I |
possibly damaging |
Het |
Lrp1b |
T |
G |
2: 41,298,276 (GRCm39) |
D1036A |
|
Het |
Mecom |
T |
G |
3: 30,034,857 (GRCm39) |
H273P |
probably damaging |
Het |
Mfn1 |
G |
A |
3: 32,622,544 (GRCm39) |
V601I |
probably benign |
Het |
Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
Myo18a |
A |
G |
11: 77,714,653 (GRCm39) |
T811A |
probably damaging |
Het |
Ndfip2 |
A |
C |
14: 105,539,760 (GRCm39) |
N292H |
possibly damaging |
Het |
Or2ak5 |
C |
A |
11: 58,610,984 (GRCm39) |
V297F |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,916,747 (GRCm39) |
C895S |
probably damaging |
Het |
Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
Pira13 |
A |
G |
7: 3,824,667 (GRCm39) |
S573P |
unknown |
Het |
Ptprn |
A |
T |
1: 75,237,263 (GRCm39) |
M113K |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,807 (GRCm39) |
H445R |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,328,659 (GRCm39) |
F2853V |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,636,277 (GRCm39) |
F647Y |
unknown |
Het |
Stt3b |
T |
C |
9: 115,083,085 (GRCm39) |
Y449C |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
Zfp451 |
A |
C |
1: 33,815,825 (GRCm39) |
D708E |
possibly damaging |
Het |
Zfp456 |
T |
C |
13: 67,520,896 (GRCm39) |
E33G |
probably damaging |
Het |
|
Other mutations in Zfp599 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00580:Zfp599
|
APN |
9 |
22,160,768 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00845:Zfp599
|
APN |
9 |
22,162,814 (GRCm39) |
splice site |
probably benign |
|
R0136:Zfp599
|
UTSW |
9 |
22,161,038 (GRCm39) |
missense |
probably benign |
0.13 |
R0239:Zfp599
|
UTSW |
9 |
22,161,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R0239:Zfp599
|
UTSW |
9 |
22,161,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R0421:Zfp599
|
UTSW |
9 |
22,161,843 (GRCm39) |
splice site |
probably benign |
|
R1699:Zfp599
|
UTSW |
9 |
22,161,700 (GRCm39) |
missense |
probably benign |
0.20 |
R1723:Zfp599
|
UTSW |
9 |
22,169,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Zfp599
|
UTSW |
9 |
22,162,845 (GRCm39) |
missense |
probably benign |
0.00 |
R4231:Zfp599
|
UTSW |
9 |
22,161,041 (GRCm39) |
nonsense |
probably null |
|
R4233:Zfp599
|
UTSW |
9 |
22,161,041 (GRCm39) |
nonsense |
probably null |
|
R4236:Zfp599
|
UTSW |
9 |
22,161,041 (GRCm39) |
nonsense |
probably null |
|
R4931:Zfp599
|
UTSW |
9 |
22,169,419 (GRCm39) |
missense |
probably damaging |
0.98 |
R5117:Zfp599
|
UTSW |
9 |
22,161,396 (GRCm39) |
nonsense |
probably null |
|
R5615:Zfp599
|
UTSW |
9 |
22,165,165 (GRCm39) |
missense |
probably benign |
|
R5759:Zfp599
|
UTSW |
9 |
22,160,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5915:Zfp599
|
UTSW |
9 |
22,161,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R6184:Zfp599
|
UTSW |
9 |
22,160,947 (GRCm39) |
missense |
probably benign |
0.18 |
R6188:Zfp599
|
UTSW |
9 |
22,161,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R6657:Zfp599
|
UTSW |
9 |
22,161,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R6736:Zfp599
|
UTSW |
9 |
22,161,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R6752:Zfp599
|
UTSW |
9 |
22,160,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R7643:Zfp599
|
UTSW |
9 |
22,161,188 (GRCm39) |
missense |
probably benign |
0.19 |
R7714:Zfp599
|
UTSW |
9 |
22,161,811 (GRCm39) |
missense |
probably benign |
0.07 |
R7951:Zfp599
|
UTSW |
9 |
22,160,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R7967:Zfp599
|
UTSW |
9 |
22,160,830 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8014:Zfp599
|
UTSW |
9 |
22,160,777 (GRCm39) |
missense |
probably benign |
0.03 |
R8187:Zfp599
|
UTSW |
9 |
22,161,111 (GRCm39) |
nonsense |
probably null |
|
R9562:Zfp599
|
UTSW |
9 |
22,160,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R9684:Zfp599
|
UTSW |
9 |
22,160,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R9722:Zfp599
|
UTSW |
9 |
22,160,741 (GRCm39) |
missense |
probably damaging |
0.96 |
RF005:Zfp599
|
UTSW |
9 |
22,165,180 (GRCm39) |
missense |
probably benign |
0.03 |
RF024:Zfp599
|
UTSW |
9 |
22,165,180 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCTGTATATTATCCAAACTCC -3'
(R):5'- TTCCATGGAACCCTGCTATGG -3'
Sequencing Primer
(F):5'- GAGAACCATGTTTACTCTGGAGTCC -3'
(R):5'- GAACACATACAGAGTAGAATGGACCC -3'
|
Posted On |
2019-05-15 |