Incidental Mutation 'R4177:Zfp268'
ID |
319549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp268
|
Ensembl Gene |
ENSMUSG00000078502 |
Gene Name |
zinc finger protein 268 |
Synonyms |
Gm13212 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.401)
|
Stock # |
R4177 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
145311770-145351915 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145347225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 43
(L43S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112918
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097794]
[ENSMUST00000105739]
[ENSMUST00000119718]
|
AlphaFold |
B1ASQ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097794
AA Change: L43S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095402 Gene: ENSMUSG00000078502 AA Change: L43S
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
72 |
3.23e-18 |
SMART |
ZnF_C2H2
|
238 |
260 |
1.69e-3 |
SMART |
ZnF_C2H2
|
266 |
288 |
1.18e-2 |
SMART |
ZnF_C2H2
|
294 |
316 |
1.3e-4 |
SMART |
ZnF_C2H2
|
322 |
344 |
1.58e-3 |
SMART |
ZnF_C2H2
|
350 |
372 |
4.24e-4 |
SMART |
ZnF_C2H2
|
378 |
400 |
1.06e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105739
AA Change: L43S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101365 Gene: ENSMUSG00000078502 AA Change: L43S
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
72 |
3.23e-18 |
SMART |
ZnF_C2H2
|
238 |
260 |
1.69e-3 |
SMART |
ZnF_C2H2
|
266 |
288 |
1.18e-2 |
SMART |
ZnF_C2H2
|
294 |
316 |
1.3e-4 |
SMART |
ZnF_C2H2
|
322 |
344 |
1.58e-3 |
SMART |
ZnF_C2H2
|
350 |
372 |
4.24e-4 |
SMART |
ZnF_C2H2
|
378 |
400 |
1.06e-4 |
SMART |
ZnF_C2H2
|
406 |
428 |
1.58e-3 |
SMART |
ZnF_C2H2
|
434 |
456 |
3.39e-3 |
SMART |
ZnF_C2H2
|
462 |
484 |
1.06e-4 |
SMART |
ZnF_C2H2
|
490 |
512 |
1.58e-3 |
SMART |
ZnF_C2H2
|
518 |
540 |
3.39e-3 |
SMART |
ZnF_C2H2
|
546 |
568 |
3.39e-3 |
SMART |
ZnF_C2H2
|
574 |
596 |
3.39e-3 |
SMART |
ZnF_C2H2
|
602 |
624 |
3.39e-3 |
SMART |
ZnF_C2H2
|
630 |
652 |
1.06e-4 |
SMART |
ZnF_C2H2
|
658 |
680 |
1.58e-3 |
SMART |
ZnF_C2H2
|
686 |
708 |
3.39e-3 |
SMART |
ZnF_C2H2
|
714 |
736 |
1.3e-4 |
SMART |
ZnF_C2H2
|
742 |
764 |
1.3e-4 |
SMART |
ZnF_C2H2
|
770 |
792 |
4.79e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119718
AA Change: L43S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112918 Gene: ENSMUSG00000078502 AA Change: L43S
Domain | Start | End | E-Value | Type |
KRAB
|
13 |
72 |
3.23e-18 |
SMART |
internal_repeat_1
|
141 |
211 |
2.19e-13 |
PROSPERO |
ZnF_C2H2
|
238 |
260 |
1.69e-3 |
SMART |
ZnF_C2H2
|
266 |
288 |
1.18e-2 |
SMART |
low complexity region
|
320 |
335 |
N/A |
INTRINSIC |
low complexity region
|
350 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180968
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aicda |
A |
T |
6: 122,538,043 (GRCm39) |
D67V |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,158,510 (GRCm39) |
R182G |
probably null |
Het |
Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
Bscl2 |
A |
G |
19: 8,817,120 (GRCm39) |
D16G |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,321,294 (GRCm39) |
V506A |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,400,816 (GRCm39) |
Q441L |
possibly damaging |
Het |
Crebbp |
A |
T |
16: 3,937,663 (GRCm39) |
M700K |
possibly damaging |
Het |
Dhcr7 |
A |
G |
7: 143,394,910 (GRCm39) |
Y142C |
probably damaging |
Het |
Dnajc2 |
A |
G |
5: 21,962,394 (GRCm39) |
M602T |
probably benign |
Het |
Dysf |
C |
T |
6: 84,044,013 (GRCm39) |
R254* |
probably null |
Het |
Ednra |
A |
C |
8: 78,401,677 (GRCm39) |
I204M |
possibly damaging |
Het |
Fabp2 |
A |
G |
3: 122,690,547 (GRCm39) |
T77A |
possibly damaging |
Het |
Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
Gnb1 |
T |
C |
4: 155,625,113 (GRCm39) |
|
probably benign |
Het |
Gpc2 |
T |
C |
5: 138,275,621 (GRCm39) |
|
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,732,280 (GRCm39) |
|
probably benign |
Het |
Lypla2 |
T |
C |
4: 135,696,403 (GRCm39) |
|
probably benign |
Het |
Maf |
A |
T |
8: 116,433,210 (GRCm39) |
Y131* |
probably null |
Het |
Mfsd4a |
T |
A |
1: 131,968,295 (GRCm39) |
H335L |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,302 (GRCm39) |
Y122H |
probably damaging |
Het |
Myo10 |
A |
T |
15: 25,734,137 (GRCm39) |
Q342L |
possibly damaging |
Het |
N4bp2 |
A |
G |
5: 65,955,513 (GRCm39) |
|
probably null |
Het |
Or5t15 |
A |
T |
2: 86,681,745 (GRCm39) |
M99K |
possibly damaging |
Het |
Pomt1 |
A |
G |
2: 32,138,689 (GRCm39) |
N435S |
probably damaging |
Het |
Pram1 |
A |
G |
17: 33,860,203 (GRCm39) |
I257V |
probably benign |
Het |
Rab9 |
G |
T |
X: 165,241,296 (GRCm39) |
S5* |
probably null |
Het |
Ralgapa2 |
A |
T |
2: 146,327,083 (GRCm39) |
Y59N |
probably damaging |
Het |
Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
Rps6kc1 |
G |
A |
1: 190,532,616 (GRCm39) |
T462M |
possibly damaging |
Het |
Selenoo |
C |
T |
15: 88,983,662 (GRCm39) |
|
probably benign |
Het |
Sptb |
G |
C |
12: 76,659,953 (GRCm39) |
D982E |
probably benign |
Het |
Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
Ubald1 |
A |
G |
16: 4,693,745 (GRCm39) |
|
probably benign |
Het |
Ube2d1 |
T |
C |
10: 71,094,033 (GRCm39) |
K101R |
probably damaging |
Het |
Unc5cl |
A |
G |
17: 48,769,298 (GRCm39) |
T261A |
probably benign |
Het |
Zcwpw1 |
G |
T |
5: 137,798,395 (GRCm39) |
K197N |
probably damaging |
Het |
Zfyve19 |
A |
G |
2: 119,046,693 (GRCm39) |
T296A |
possibly damaging |
Het |
|
Other mutations in Zfp268 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01797:Zfp268
|
APN |
4 |
145,347,241 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02678:Zfp268
|
APN |
4 |
145,349,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03035:Zfp268
|
APN |
4 |
145,348,802 (GRCm39) |
missense |
possibly damaging |
0.77 |
BB008:Zfp268
|
UTSW |
4 |
145,349,126 (GRCm39) |
missense |
possibly damaging |
0.49 |
BB018:Zfp268
|
UTSW |
4 |
145,349,126 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0090:Zfp268
|
UTSW |
4 |
145,349,195 (GRCm39) |
nonsense |
probably null |
|
R0904:Zfp268
|
UTSW |
4 |
145,348,745 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1617:Zfp268
|
UTSW |
4 |
145,350,877 (GRCm39) |
utr 3 prime |
probably benign |
|
R1851:Zfp268
|
UTSW |
4 |
145,350,820 (GRCm39) |
unclassified |
probably benign |
|
R1864:Zfp268
|
UTSW |
4 |
145,348,998 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2093:Zfp268
|
UTSW |
4 |
145,349,139 (GRCm39) |
missense |
probably benign |
0.02 |
R2132:Zfp268
|
UTSW |
4 |
145,350,803 (GRCm39) |
unclassified |
probably benign |
|
R2240:Zfp268
|
UTSW |
4 |
145,311,891 (GRCm39) |
start gained |
probably benign |
|
R4584:Zfp268
|
UTSW |
4 |
145,343,747 (GRCm39) |
critical splice donor site |
probably null |
|
R4991:Zfp268
|
UTSW |
4 |
145,348,904 (GRCm39) |
missense |
probably benign |
0.31 |
R5164:Zfp268
|
UTSW |
4 |
145,348,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R6175:Zfp268
|
UTSW |
4 |
145,350,811 (GRCm39) |
unclassified |
probably benign |
|
R6176:Zfp268
|
UTSW |
4 |
145,350,628 (GRCm39) |
nonsense |
probably null |
|
R6498:Zfp268
|
UTSW |
4 |
145,349,459 (GRCm39) |
missense |
probably damaging |
0.98 |
R6984:Zfp268
|
UTSW |
4 |
145,347,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R7134:Zfp268
|
UTSW |
4 |
145,349,375 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7931:Zfp268
|
UTSW |
4 |
145,349,126 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8017:Zfp268
|
UTSW |
4 |
145,349,138 (GRCm39) |
missense |
probably benign |
0.28 |
R8282:Zfp268
|
UTSW |
4 |
145,349,547 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9320:Zfp268
|
UTSW |
4 |
145,349,156 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9358:Zfp268
|
UTSW |
4 |
145,349,613 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9435:Zfp268
|
UTSW |
4 |
145,349,045 (GRCm39) |
missense |
|
|
V5622:Zfp268
|
UTSW |
4 |
145,311,891 (GRCm39) |
start gained |
probably benign |
|
Z1176:Zfp268
|
UTSW |
4 |
145,349,538 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTATCTTCAGACACATCTCAATC -3'
(R):5'- AGCACTGGTTACTTTTCCAAAG -3'
Sequencing Primer
(F):5'- CAAGACAGGATTTCTCTGTGCAGC -3'
(R):5'- CTTTTCCAAAGAAAGCAGAGAAATG -3'
|
Posted On |
2015-06-10 |