Incidental Mutation 'R5548:Zfp267'
| ID |
434973 |
| 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 # |
R5548 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
36205233-36224491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 36219640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 554
(H554Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165956]
[ENSMUST00000197653]
[ENSMUST00000205077]
|
| AlphaFold |
A0A0G2JEM5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165956
AA Change: H553Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131779
Gene: ENSMUSG00000033883
AA Change: H553Q
| 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 |
possibly damaging
Transcript: ENSMUST00000197653
AA Change: H554Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142829
Gene: ENSMUSG00000033883
AA Change: H554Q
| 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: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,849,863 (GRCm39) |
D191G |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Cdh12 |
C |
T |
15: 21,492,740 (GRCm39) |
T253I |
probably damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,599,011 (GRCm39) |
T56I |
possibly damaging |
Het |
| Cpsf1 |
A |
C |
15: 76,481,527 (GRCm39) |
D1141E |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,920,847 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,128,672 (GRCm39) |
D1194E |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,228,409 (GRCm39) |
H1676N |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,306,568 (GRCm39) |
V343A |
probably damaging |
Het |
| Fitm1 |
A |
G |
14: 55,813,154 (GRCm39) |
T6A |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,904,922 (GRCm39) |
V495E |
probably damaging |
Het |
| Gtf2h2 |
C |
A |
13: 100,617,544 (GRCm39) |
R206L |
possibly damaging |
Het |
| Heatr5a |
A |
T |
12: 52,005,734 (GRCm39) |
Y80* |
probably null |
Het |
| Il17ra |
A |
G |
6: 120,455,434 (GRCm39) |
R348G |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,334,733 (GRCm39) |
Y340* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,778 (GRCm39) |
T150S |
probably benign |
Het |
| Ms4a10 |
A |
T |
19: 10,945,484 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,998 (GRCm39) |
L578P |
probably damaging |
Het |
| N4bp2l1 |
G |
A |
5: 150,496,420 (GRCm39) |
R65* |
probably null |
Het |
| Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
| Nup188 |
T |
A |
2: 30,216,505 (GRCm39) |
Y770N |
probably damaging |
Het |
| Or8b3b |
T |
C |
9: 38,584,600 (GRCm39) |
I60V |
probably benign |
Het |
| Or8s5 |
T |
A |
15: 98,238,253 (GRCm39) |
T206S |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,827,381 (GRCm39) |
C1257S |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,942 (GRCm39) |
T1028A |
probably damaging |
Het |
| Pramel16 |
C |
T |
4: 143,676,550 (GRCm39) |
E185K |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,390,117 (GRCm39) |
P348S |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,276,075 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,377 (GRCm39) |
Y428N |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,630 (GRCm39) |
Y271F |
probably benign |
Het |
| Slc1a4 |
T |
A |
11: 20,254,429 (GRCm39) |
Q479L |
possibly damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,488,355 (GRCm39) |
G143S |
probably damaging |
Het |
| Susd1 |
G |
A |
4: 59,369,577 (GRCm39) |
T364M |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,628,587 (GRCm39) |
Y496* |
probably null |
Het |
| Tmem63b |
A |
G |
17: 45,975,884 (GRCm39) |
I523T |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,651,669 (GRCm39) |
S1731P |
possibly damaging |
Het |
| Ttll3 |
T |
A |
6: 113,370,078 (GRCm39) |
W139R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,187,401 (GRCm39) |
T3823M |
probably damaging |
Het |
| Vangl1 |
T |
A |
3: 102,091,762 (GRCm39) |
D108V |
possibly damaging |
Het |
| Vmn1r120 |
T |
C |
7: 20,787,482 (GRCm39) |
I76M |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,156,886 (GRCm39) |
Y17H |
probably damaging |
Het |
| Xkr4 |
C |
T |
1: 3,287,153 (GRCm39) |
A346T |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,019 (GRCm39) |
S562R |
possibly 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 |
|
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 |
|
R6602:Zfp267
|
UTSW |
3 |
36,219,004 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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'- TTCAATCAAAGATCGACTGTTACTCA -3'
(R):5'- GGAACTGGATTTAAAGGCGCCA -3'
Sequencing Primer
(F):5'- AAGATCGAGCCTTAGTCTGC -3'
(R):5'- CTGGGTAAAAGCTTTGCCAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation