Incidental Mutation 'R6498:Zfp268'
ID |
523096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp268
|
Ensembl Gene |
ENSMUSG00000078502 |
Gene Name |
zinc finger protein 268 |
Synonyms |
Gm13212 |
MMRRC Submission |
044630-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.401)
|
Stock # |
R6498 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
145311770-145351915 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 145349459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 299
(C299S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097794]
[ENSMUST00000105739]
[ENSMUST00000119718]
|
AlphaFold |
B1ASQ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097794
AA Change: C299S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095402 Gene: ENSMUSG00000078502 AA Change: C299S
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 |
unknown
Transcript: ENSMUST00000105739
AA Change: C299S
|
SMART Domains |
Protein: ENSMUSP00000101365 Gene: ENSMUSG00000078502 AA Change: C299S
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 benign
Transcript: ENSMUST00000119718
|
SMART Domains |
Protein: ENSMUSP00000112918 Gene: ENSMUSG00000078502
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 |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.8%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
G |
11: 110,182,928 (GRCm39) |
N1043T |
possibly damaging |
Het |
Actn2 |
C |
T |
13: 12,291,359 (GRCm39) |
E682K |
probably damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,624,854 (GRCm39) |
V833A |
possibly damaging |
Het |
Arrb2 |
G |
T |
11: 70,330,375 (GRCm39) |
R333L |
probably benign |
Het |
Atp9b |
C |
T |
18: 80,820,230 (GRCm39) |
S135N |
probably benign |
Het |
Cep112 |
T |
A |
11: 108,331,357 (GRCm39) |
S135R |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,124,132 (GRCm39) |
R1607* |
probably null |
Het |
Duox1 |
A |
T |
2: 122,150,088 (GRCm39) |
S160C |
probably damaging |
Het |
Eogt |
A |
T |
6: 97,112,174 (GRCm39) |
Y160N |
probably damaging |
Het |
Exosc10 |
T |
C |
4: 148,657,795 (GRCm39) |
V647A |
probably benign |
Het |
Fbxo44 |
C |
T |
4: 148,238,882 (GRCm39) |
|
|
Het |
Fen1 |
G |
T |
19: 10,177,479 (GRCm39) |
R322S |
probably damaging |
Het |
Gls |
A |
C |
1: 52,259,198 (GRCm39) |
N134K |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,235,112 (GRCm39) |
V82A |
possibly damaging |
Het |
Il33 |
G |
A |
19: 29,927,137 (GRCm39) |
E23K |
probably benign |
Het |
Macroh2a2 |
C |
A |
10: 61,593,614 (GRCm39) |
V21F |
probably damaging |
Het |
Map2k5 |
C |
A |
9: 63,193,683 (GRCm39) |
A266S |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,226 (GRCm39) |
I32V |
probably benign |
Het |
Or2t29 |
T |
A |
11: 58,433,408 (GRCm39) |
N298I |
probably damaging |
Het |
Or5p61 |
C |
T |
7: 107,758,639 (GRCm39) |
C147Y |
probably benign |
Het |
Pcdh1 |
G |
A |
18: 38,330,490 (GRCm39) |
P838S |
probably benign |
Het |
Pcdha5 |
A |
G |
18: 37,095,768 (GRCm39) |
E759G |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,719,505 (GRCm39) |
I1214T |
unknown |
Het |
Per3 |
T |
C |
4: 151,113,662 (GRCm39) |
I299V |
probably benign |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Synpo2 |
A |
T |
3: 122,873,881 (GRCm39) |
|
probably null |
Het |
Sys1 |
G |
A |
2: 164,306,438 (GRCm39) |
A131T |
probably benign |
Het |
Tekt2 |
A |
G |
4: 126,218,098 (GRCm39) |
L138P |
probably benign |
Het |
Tmprss12 |
T |
A |
15: 100,183,133 (GRCm39) |
N158K |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,717,923 (GRCm39) |
M2177K |
unknown |
Het |
Trim43a |
T |
A |
9: 88,464,395 (GRCm39) |
I102N |
probably damaging |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,317,837 (GRCm39) |
C498Y |
probably benign |
Het |
Vmn1r39 |
A |
T |
6: 66,781,841 (GRCm39) |
V159D |
probably damaging |
Het |
Vmn1r44 |
A |
G |
6: 89,870,562 (GRCm39) |
T103A |
probably benign |
Het |
Wsb1 |
A |
T |
11: 79,139,315 (GRCm39) |
V127D |
probably 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 |
|
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 |
|
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'- CACAACCGAAATGCAGAATTTG -3'
(R):5'- TGATGAATTCTCAGACTGCCG -3'
Sequencing Primer
(F):5'- TCCATCAGGGAATTCATGCAG -3'
(R):5'- CTCAGACTGCCGTTTTTAGTAAAGC -3'
|
Posted On |
2018-06-06 |