Incidental Mutation 'R8017:Zfp268'
| ID |
656291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp268
|
| Ensembl Gene |
ENSMUSG00000078502 |
| Gene Name |
zinc finger protein 268 |
| Synonyms |
Gm13212 |
| MMRRC Submission |
067457-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.401)
|
| Stock # |
R8017 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
145311770-145351915 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145349138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 192
(T192A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097794]
[ENSMUST00000105739]
[ENSMUST00000119718]
|
| AlphaFold |
B1ASQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097794
AA Change: T192A
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095402
Gene: ENSMUSG00000078502
AA Change: T192A
| 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 benign
Transcript: ENSMUST00000105739
AA Change: T192A
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101365
Gene: ENSMUSG00000078502
AA Change: T192A
| 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 |
possibly damaging
Transcript: ENSMUST00000119718
AA Change: T192A
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112918
Gene: ENSMUSG00000078502
AA Change: T192A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
G |
2: 156,397,876 (GRCm39) |
I296S |
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,257,228 (GRCm39) |
I42V |
probably benign |
Het |
| Adam25 |
T |
A |
8: 41,207,124 (GRCm39) |
M130K |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,034,413 (GRCm39) |
F394Y |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,121,840 (GRCm39) |
M1K |
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,342,899 (GRCm39) |
N724S |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,648,748 (GRCm39) |
S211P |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,484 (GRCm39) |
V239E |
possibly damaging |
Het |
| Dcn |
G |
A |
10: 97,319,397 (GRCm39) |
R58Q |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,877,949 (GRCm39) |
N2678S |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,140,283 (GRCm39) |
S173P |
probably damaging |
Het |
| Fbxo24 |
C |
A |
5: 137,611,073 (GRCm39) |
M572I |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,447,889 (GRCm39) |
E145G |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,658,286 (GRCm39) |
V277A |
probably benign |
Het |
| Idi1 |
G |
A |
13: 8,937,974 (GRCm39) |
S140N |
probably benign |
Het |
| Kank1 |
TGCGA |
T |
19: 25,388,568 (GRCm39) |
|
probably null |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif20b |
T |
C |
19: 34,917,279 (GRCm39) |
V603A |
probably damaging |
Het |
| Klc2 |
T |
C |
19: 5,161,867 (GRCm39) |
K276R |
probably benign |
Het |
| Lmbrd2 |
T |
A |
15: 9,172,317 (GRCm39) |
N370K |
probably benign |
Het |
| Map2k5 |
G |
T |
9: 63,246,403 (GRCm39) |
A108D |
probably damaging |
Het |
| Obox2 |
T |
C |
7: 15,130,974 (GRCm39) |
S69P |
possibly damaging |
Het |
| Or2w2 |
G |
A |
13: 21,758,648 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
A |
C |
2: 89,969,170 (GRCm39) |
F104L |
probably benign |
Het |
| Or4f57 |
G |
A |
2: 111,790,918 (GRCm39) |
P167S |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,783 (GRCm39) |
E613G |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Rab2a |
T |
C |
4: 8,604,444 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
A |
C |
10: 33,785,455 (GRCm39) |
R455S |
probably damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,850,840 (GRCm39) |
T439A |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tmem151a |
T |
C |
19: 5,132,588 (GRCm39) |
E206G |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,231,204 (GRCm39) |
C222Y |
probably damaging |
Het |
| Tnfrsf11b |
C |
T |
15: 54,117,598 (GRCm39) |
W219* |
probably null |
Het |
| Ttc36 |
T |
C |
9: 44,710,898 (GRCm39) |
E144G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,597,801 (GRCm39) |
R19704H |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,091,403 (GRCm39) |
I1137S |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,826,637 (GRCm39) |
L226P |
probably damaging |
Het |
| Zbtb8b |
G |
A |
4: 129,322,238 (GRCm39) |
R408W |
probably damaging |
Het |
| Zfp873 |
T |
A |
10: 81,896,193 (GRCm39) |
V308E |
probably benign |
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 |
|
|
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 |
|
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'- AGCTCTCTTCAATACTCGAACC -3'
(R):5'- GGGTAAAGCATTTGTCACATTCAC -3'
Sequencing Primer
(F):5'- GCCCAGGAACACTAAAGAAGTTTGC -3'
(R):5'- GCATTTGTCACATTCACTACATTTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation