Incidental Mutation 'IGL01797:Zfp268'
ID |
155383 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01797
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
145311770-145351915 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 145347241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 48
(N48K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112918
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097794]
[ENSMUST00000105739]
[ENSMUST00000119718]
|
AlphaFold |
B1ASQ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097794
AA Change: N48K
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000095402 Gene: ENSMUSG00000078502 AA Change: N48K
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: N48K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101365 Gene: ENSMUSG00000078502 AA Change: N48K
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: N48K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112918 Gene: ENSMUSG00000078502 AA Change: N48K
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,113,760 (GRCm39) |
V877A |
probably benign |
Het |
Clcn2 |
T |
C |
16: 20,531,511 (GRCm39) |
I178V |
probably damaging |
Het |
Cnbp |
A |
G |
6: 87,822,542 (GRCm39) |
|
probably benign |
Het |
Coq8a |
A |
T |
1: 179,997,284 (GRCm39) |
|
probably null |
Het |
Dctn2 |
A |
G |
10: 127,113,182 (GRCm39) |
D244G |
possibly damaging |
Het |
Dync1h1 |
T |
A |
12: 110,618,630 (GRCm39) |
|
probably null |
Het |
Efcab15 |
T |
C |
11: 103,089,794 (GRCm39) |
Y381C |
probably damaging |
Het |
Faiml |
T |
C |
9: 99,116,442 (GRCm39) |
K83E |
probably damaging |
Het |
Fdx1 |
A |
T |
9: 51,854,925 (GRCm39) |
C159* |
probably null |
Het |
Fgd3 |
A |
T |
13: 49,443,065 (GRCm39) |
V169E |
probably damaging |
Het |
Ice1 |
G |
T |
13: 70,772,065 (GRCm39) |
T51K |
probably damaging |
Het |
Iqca1 |
A |
C |
1: 90,072,541 (GRCm39) |
|
probably null |
Het |
Jup |
C |
A |
11: 100,272,498 (GRCm39) |
|
probably benign |
Het |
Krt84 |
A |
G |
15: 101,436,915 (GRCm39) |
V373A |
possibly damaging |
Het |
Ndst4 |
T |
A |
3: 125,476,802 (GRCm39) |
M9K |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,706,086 (GRCm39) |
V480A |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,404,225 (GRCm39) |
H344R |
probably damaging |
Het |
Or13a21 |
A |
G |
7: 139,998,931 (GRCm39) |
Y252H |
probably damaging |
Het |
Or1e1f |
A |
T |
11: 73,855,644 (GRCm39) |
D70V |
probably damaging |
Het |
Pjvk |
T |
C |
2: 76,487,883 (GRCm39) |
|
probably benign |
Het |
Prkaa1 |
G |
A |
15: 5,198,187 (GRCm39) |
D159N |
probably damaging |
Het |
Sap130 |
T |
A |
18: 31,831,721 (GRCm39) |
I736N |
probably damaging |
Het |
Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
Tpp1 |
T |
C |
7: 105,398,459 (GRCm39) |
I286V |
probably benign |
Het |
Ttll5 |
T |
A |
12: 86,003,371 (GRCm39) |
I1069K |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,540,257 (GRCm39) |
E34243A |
possibly damaging |
Het |
Uqcr10 |
A |
C |
11: 4,654,179 (GRCm39) |
I43S |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 187,995,706 (GRCm39) |
M159K |
probably damaging |
Het |
Vmn2r121 |
G |
A |
X: 123,041,048 (GRCm39) |
|
probably benign |
Het |
Vmn2r30 |
T |
A |
7: 7,337,195 (GRCm39) |
D147V |
probably benign |
Het |
Xntrpc |
T |
C |
7: 101,739,753 (GRCm39) |
I559T |
possibly damaging |
Het |
|
Other mutations in Zfp268 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R4177:Zfp268
|
UTSW |
4 |
145,347,225 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-02-04 |