Incidental Mutation 'R6602:Zfp267'
ID |
525326 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp267
|
Ensembl Gene |
ENSMUSG00000033883 |
Gene Name |
zinc finger protein 267 |
Synonyms |
D3Ertd254e |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R6602 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
36205233-36224491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 36219004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 341
(L341F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165956]
[ENSMUST00000197653]
[ENSMUST00000205077]
|
AlphaFold |
A0A0G2JEM5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165956
AA Change: L341F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131779 Gene: ENSMUSG00000033883 AA Change: L341F
Domain | Start | End | E-Value | Type |
KRAB
|
3 |
63 |
2.91e-34 |
SMART |
ZnF_C2H2
|
342 |
364 |
1.08e-1 |
SMART |
ZnF_C2H2
|
395 |
417 |
1.56e-2 |
SMART |
ZnF_C2H2
|
423 |
445 |
3.11e-2 |
SMART |
ZnF_C2H2
|
451 |
473 |
5.9e-3 |
SMART |
ZnF_C2H2
|
479 |
501 |
1.82e-3 |
SMART |
ZnF_C2H2
|
507 |
529 |
5.21e-4 |
SMART |
ZnF_C2H2
|
535 |
557 |
1.84e-4 |
SMART |
ZnF_C2H2
|
563 |
585 |
1.95e-3 |
SMART |
ZnF_C2H2
|
591 |
613 |
2.05e-2 |
SMART |
ZnF_C2H2
|
619 |
641 |
1.6e-4 |
SMART |
ZnF_C2H2
|
647 |
669 |
5.21e-4 |
SMART |
ZnF_C2H2
|
675 |
697 |
1.69e-3 |
SMART |
ZnF_C2H2
|
703 |
725 |
2.61e-4 |
SMART |
ZnF_C2H2
|
731 |
753 |
1.12e-3 |
SMART |
ZnF_C2H2
|
759 |
779 |
3.85e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197653
AA Change: L342F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142829 Gene: ENSMUSG00000033883 AA Change: L342F
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
1.2e-36 |
SMART |
ZnF_C2H2
|
343 |
365 |
4.4e-4 |
SMART |
ZnF_C2H2
|
396 |
418 |
6.7e-5 |
SMART |
ZnF_C2H2
|
424 |
446 |
1.3e-4 |
SMART |
ZnF_C2H2
|
452 |
474 |
2.5e-5 |
SMART |
ZnF_C2H2
|
480 |
502 |
7.9e-6 |
SMART |
ZnF_C2H2
|
508 |
530 |
2.2e-6 |
SMART |
ZnF_C2H2
|
536 |
558 |
7.7e-7 |
SMART |
ZnF_C2H2
|
564 |
586 |
8e-6 |
SMART |
ZnF_C2H2
|
592 |
614 |
8.9e-5 |
SMART |
ZnF_C2H2
|
620 |
642 |
6.6e-7 |
SMART |
ZnF_C2H2
|
648 |
670 |
2.2e-6 |
SMART |
ZnF_C2H2
|
676 |
698 |
7.1e-6 |
SMART |
ZnF_C2H2
|
704 |
726 |
1.1e-6 |
SMART |
ZnF_C2H2
|
732 |
754 |
4.8e-6 |
SMART |
ZnF_C2H2
|
760 |
780 |
1.6e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205077
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
A |
G |
8: 125,365,993 (GRCm39) |
L250P |
probably damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,112,769 (GRCm39) |
H12R |
probably benign |
Het |
Abca4 |
A |
C |
3: 121,932,150 (GRCm39) |
Q268P |
probably benign |
Het |
Adgrf5 |
T |
A |
17: 43,761,195 (GRCm39) |
N963K |
probably benign |
Het |
Arl10 |
A |
G |
13: 54,726,750 (GRCm39) |
D176G |
probably damaging |
Het |
Btnl1 |
T |
A |
17: 34,604,722 (GRCm39) |
M501K |
probably damaging |
Het |
Ccdc162 |
G |
T |
10: 41,491,976 (GRCm39) |
T1079K |
probably benign |
Het |
Cd163 |
T |
A |
6: 124,288,594 (GRCm39) |
W342R |
probably damaging |
Het |
Cd70 |
T |
C |
17: 57,456,562 (GRCm39) |
S14G |
probably benign |
Het |
Chil4 |
C |
A |
3: 106,117,906 (GRCm39) |
K121N |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,243,497 (GRCm39) |
D171G |
possibly damaging |
Het |
Cyp4a31 |
A |
T |
4: 115,426,904 (GRCm39) |
|
probably null |
Het |
Dapk1 |
A |
T |
13: 60,897,018 (GRCm39) |
I746F |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,409,662 (GRCm39) |
S192P |
probably damaging |
Het |
Exoc8 |
C |
A |
8: 125,623,150 (GRCm39) |
V406L |
probably damaging |
Het |
Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
Greb1 |
A |
T |
12: 16,759,441 (GRCm39) |
V652E |
probably benign |
Het |
Ift88 |
A |
G |
14: 57,744,716 (GRCm39) |
S745G |
probably benign |
Het |
Il18bp |
T |
C |
7: 101,665,237 (GRCm39) |
|
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
Klk1b11 |
A |
G |
7: 43,424,198 (GRCm39) |
S6G |
probably benign |
Het |
Mastl |
T |
C |
2: 23,022,689 (GRCm39) |
Y678C |
probably benign |
Het |
Msra |
A |
T |
14: 64,360,788 (GRCm39) |
H184Q |
probably benign |
Het |
Muc16 |
A |
C |
9: 18,520,772 (GRCm39) |
|
probably null |
Het |
Myo3a |
T |
G |
2: 22,467,799 (GRCm39) |
L351R |
probably damaging |
Het |
Npy5r |
GCTGTGAAACACTG |
GCTG |
8: 67,134,192 (GRCm39) |
|
probably null |
Het |
Or4d2 |
T |
C |
11: 87,784,478 (GRCm39) |
T91A |
probably benign |
Het |
Or7d11 |
C |
T |
9: 19,966,342 (GRCm39) |
R139Q |
probably benign |
Het |
Or7g18 |
A |
G |
9: 18,787,145 (GRCm39) |
D174G |
possibly damaging |
Het |
Pcdhb18 |
A |
T |
18: 37,623,533 (GRCm39) |
I288F |
probably damaging |
Het |
Pitpna |
T |
G |
11: 75,511,141 (GRCm39) |
V238G |
possibly damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,879,719 (GRCm39) |
V81E |
possibly damaging |
Het |
Rab11fip2 |
T |
A |
19: 59,931,288 (GRCm39) |
T49S |
probably damaging |
Het |
Rsl24d1 |
T |
A |
9: 73,020,792 (GRCm39) |
I3N |
possibly damaging |
Het |
Rtn1 |
T |
C |
12: 72,266,092 (GRCm39) |
N161S |
probably damaging |
Het |
Shank1 |
A |
G |
7: 44,001,760 (GRCm39) |
I1151V |
probably benign |
Het |
Slc34a3 |
A |
G |
2: 25,119,221 (GRCm39) |
S550P |
probably damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,684,985 (GRCm39) |
H207R |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,253,479 (GRCm39) |
K1423N |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
Ubqln5 |
T |
A |
7: 103,778,696 (GRCm39) |
S43C |
probably benign |
Het |
Vps13d |
G |
A |
4: 144,830,234 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,641,816 (GRCm39) |
V413D |
probably damaging |
Het |
|
Other mutations in Zfp267 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01524:Zfp267
|
APN |
3 |
36,218,729 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02089:Zfp267
|
APN |
3 |
36,218,877 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02162:Zfp267
|
APN |
3 |
36,218,210 (GRCm39) |
missense |
probably benign |
0.18 |
R0243:Zfp267
|
UTSW |
3 |
36,219,303 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0512:Zfp267
|
UTSW |
3 |
36,220,262 (GRCm39) |
missense |
probably damaging |
0.96 |
R0722:Zfp267
|
UTSW |
3 |
36,219,218 (GRCm39) |
missense |
probably benign |
0.35 |
R0762:Zfp267
|
UTSW |
3 |
36,220,016 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0792:Zfp267
|
UTSW |
3 |
36,218,711 (GRCm39) |
missense |
probably benign |
0.01 |
R0894:Zfp267
|
UTSW |
3 |
36,218,935 (GRCm39) |
nonsense |
probably null |
|
R1731:Zfp267
|
UTSW |
3 |
36,218,620 (GRCm39) |
missense |
probably benign |
0.18 |
R2098:Zfp267
|
UTSW |
3 |
36,220,289 (GRCm39) |
missense |
probably benign |
|
R2099:Zfp267
|
UTSW |
3 |
36,218,361 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3709:Zfp267
|
UTSW |
3 |
36,213,725 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3808:Zfp267
|
UTSW |
3 |
36,219,792 (GRCm39) |
splice site |
probably null |
|
R4035:Zfp267
|
UTSW |
3 |
36,218,989 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4288:Zfp267
|
UTSW |
3 |
36,213,747 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4289:Zfp267
|
UTSW |
3 |
36,213,747 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4959:Zfp267
|
UTSW |
3 |
36,218,285 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4973:Zfp267
|
UTSW |
3 |
36,218,285 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5102:Zfp267
|
UTSW |
3 |
36,216,814 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5462:Zfp267
|
UTSW |
3 |
36,219,969 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5548:Zfp267
|
UTSW |
3 |
36,219,640 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5782:Zfp267
|
UTSW |
3 |
36,219,128 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6153:Zfp267
|
UTSW |
3 |
36,219,303 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6225:Zfp267
|
UTSW |
3 |
36,220,352 (GRCm39) |
missense |
probably benign |
0.18 |
R6785:Zfp267
|
UTSW |
3 |
36,219,601 (GRCm39) |
nonsense |
probably null |
|
R7513:Zfp267
|
UTSW |
3 |
36,218,792 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7846:Zfp267
|
UTSW |
3 |
36,219,738 (GRCm39) |
missense |
probably benign |
0.43 |
R8120:Zfp267
|
UTSW |
3 |
36,218,640 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8265:Zfp267
|
UTSW |
3 |
36,213,677 (GRCm39) |
start gained |
probably benign |
|
R8415:Zfp267
|
UTSW |
3 |
36,219,182 (GRCm39) |
missense |
probably damaging |
0.98 |
R8826:Zfp267
|
UTSW |
3 |
36,218,255 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9026:Zfp267
|
UTSW |
3 |
36,219,066 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9159:Zfp267
|
UTSW |
3 |
36,219,902 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9786:Zfp267
|
UTSW |
3 |
36,219,853 (GRCm39) |
nonsense |
probably null |
|
X0021:Zfp267
|
UTSW |
3 |
36,218,340 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGTATCACTGAACCAAAATTCGAG -3'
(R):5'- CTGAGTAACAGTCGATCTTTGATTG -3'
Sequencing Primer
(F):5'- TCACTGAACCAAAATTCGAGTACAG -3'
(R):5'- CTTGAACAGTAGGTAAAGGCTTTGC -3'
|
Posted On |
2018-06-22 |