Incidental Mutation 'R5018:Zfp276'
ID |
389056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp276
|
Ensembl Gene |
ENSMUSG00000001065 |
Gene Name |
zinc finger protein (C2H2 type) 276 |
Synonyms |
D8Ertd377e, D8Ertd370e |
MMRRC Submission |
042609-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R5018 (G1)
|
Quality Score |
170 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
123980934-123996484 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 123991716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001092]
[ENSMUST00000035495]
[ENSMUST00000127664]
[ENSMUST00000154450]
|
AlphaFold |
Q8CE64 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001092
|
SMART Domains |
Protein: ENSMUSP00000001092 Gene: ENSMUSG00000001065
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
41 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
Pfam:zf-AD
|
79 |
159 |
1.2e-13 |
PFAM |
low complexity region
|
402 |
422 |
N/A |
INTRINSIC |
ZnF_C2H2
|
434 |
458 |
2.24e-3 |
SMART |
ZnF_C2H2
|
465 |
490 |
6.67e-2 |
SMART |
ZnF_C2H2
|
496 |
518 |
1.38e-3 |
SMART |
ZnF_C2H2
|
524 |
546 |
1.82e-3 |
SMART |
ZnF_C2H2
|
554 |
577 |
4.79e-3 |
SMART |
low complexity region
|
586 |
602 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035495
|
SMART Domains |
Protein: ENSMUSP00000045217 Gene: ENSMUSG00000032815
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
low complexity region
|
78 |
100 |
N/A |
INTRINSIC |
Pfam:Fanconi_A_N
|
167 |
520 |
3.7e-146 |
PFAM |
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
low complexity region
|
1069 |
1079 |
N/A |
INTRINSIC |
low complexity region
|
1200 |
1225 |
N/A |
INTRINSIC |
Pfam:Fanconi_A
|
1246 |
1308 |
8.4e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130333
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211934
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156896
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154450
|
SMART Domains |
Protein: ENSMUSP00000119771 Gene: ENSMUSG00000001065
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
41 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
Pfam:zf-AD
|
79 |
159 |
1.9e-14 |
PFAM |
low complexity region
|
183 |
203 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
A |
T |
14: 68,809,228 (GRCm39) |
F245I |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Alx4 |
G |
T |
2: 93,507,764 (GRCm39) |
G353V |
probably damaging |
Het |
Apol7b |
A |
G |
15: 77,308,916 (GRCm39) |
F61L |
probably benign |
Het |
Aunip |
T |
A |
4: 134,250,928 (GRCm39) |
|
probably null |
Het |
Bfsp1 |
C |
A |
2: 143,704,802 (GRCm39) |
R17L |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,947,054 (GRCm39) |
D2926E |
probably damaging |
Het |
Dmwd |
A |
G |
7: 18,812,044 (GRCm39) |
D166G |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,839,260 (GRCm39) |
S1233P |
possibly damaging |
Het |
Dnah11 |
G |
T |
12: 118,094,463 (GRCm39) |
N868K |
probably benign |
Het |
Eea1 |
T |
C |
10: 95,846,899 (GRCm39) |
V393A |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Flacc1 |
A |
G |
1: 58,730,109 (GRCm39) |
V67A |
probably benign |
Het |
Fyttd1 |
A |
G |
16: 32,722,787 (GRCm39) |
|
probably null |
Het |
Hal |
T |
C |
10: 93,343,413 (GRCm39) |
|
probably null |
Het |
Hhat |
A |
T |
1: 192,277,346 (GRCm39) |
L371Q |
probably damaging |
Het |
Hpse2 |
A |
G |
19: 43,373,263 (GRCm39) |
F122S |
possibly damaging |
Het |
Kif21b |
A |
G |
1: 136,099,972 (GRCm39) |
I1509V |
probably benign |
Het |
Klhl20 |
T |
C |
1: 160,929,156 (GRCm39) |
D334G |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,279,392 (GRCm39) |
D3870N |
probably damaging |
Het |
Nlrc5 |
C |
T |
8: 95,252,080 (GRCm39) |
A1867V |
probably damaging |
Het |
Nr1h5 |
A |
G |
3: 102,855,111 (GRCm39) |
L330P |
probably damaging |
Het |
Or10g3b |
A |
C |
14: 52,586,736 (GRCm39) |
C256G |
possibly damaging |
Het |
Pcdh15 |
T |
G |
10: 74,479,607 (GRCm39) |
S573A |
possibly damaging |
Het |
Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
Scd4 |
T |
A |
19: 44,326,048 (GRCm39) |
M134K |
probably benign |
Het |
Sh3gl2 |
A |
G |
4: 85,309,291 (GRCm39) |
|
probably benign |
Het |
Sin3a |
T |
A |
9: 57,018,175 (GRCm39) |
S865T |
probably benign |
Het |
Slitrk3 |
G |
A |
3: 72,957,845 (GRCm39) |
T309I |
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,634 (GRCm39) |
E837K |
probably damaging |
Het |
Stag1 |
A |
G |
9: 100,833,672 (GRCm39) |
D1095G |
probably benign |
Het |
Trat1 |
A |
T |
16: 48,555,168 (GRCm39) |
L188* |
probably null |
Het |
Ubn1 |
A |
G |
16: 4,881,589 (GRCm39) |
D207G |
probably damaging |
Het |
Ugp2 |
A |
G |
11: 21,281,052 (GRCm39) |
Y219H |
probably damaging |
Het |
Ugt2b1 |
G |
T |
5: 87,073,821 (GRCm39) |
Y179* |
probably null |
Het |
Vmn2r27 |
T |
A |
6: 124,201,141 (GRCm39) |
D272V |
probably benign |
Het |
Vmn2r3 |
T |
C |
3: 64,178,774 (GRCm39) |
E497G |
probably benign |
Het |
Vmn2r91 |
G |
T |
17: 18,356,700 (GRCm39) |
C789F |
probably damaging |
Het |
|
Other mutations in Zfp276 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00726:Zfp276
|
APN |
8 |
123,985,076 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02573:Zfp276
|
APN |
8 |
123,991,736 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02729:Zfp276
|
APN |
8 |
123,994,555 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02956:Zfp276
|
APN |
8 |
123,981,483 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03019:Zfp276
|
APN |
8 |
123,994,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R0087:Zfp276
|
UTSW |
8 |
123,991,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R0386:Zfp276
|
UTSW |
8 |
123,986,242 (GRCm39) |
nonsense |
probably null |
|
R1084:Zfp276
|
UTSW |
8 |
123,981,462 (GRCm39) |
missense |
probably damaging |
0.99 |
R4199:Zfp276
|
UTSW |
8 |
123,994,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R4506:Zfp276
|
UTSW |
8 |
123,991,666 (GRCm39) |
critical splice donor site |
probably null |
|
R4584:Zfp276
|
UTSW |
8 |
123,995,145 (GRCm39) |
utr 3 prime |
probably benign |
|
R4776:Zfp276
|
UTSW |
8 |
123,981,623 (GRCm39) |
missense |
probably benign |
|
R4985:Zfp276
|
UTSW |
8 |
123,994,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R5017:Zfp276
|
UTSW |
8 |
123,991,716 (GRCm39) |
unclassified |
probably benign |
|
R5115:Zfp276
|
UTSW |
8 |
123,991,716 (GRCm39) |
unclassified |
probably benign |
|
R5116:Zfp276
|
UTSW |
8 |
123,991,716 (GRCm39) |
unclassified |
probably benign |
|
R5412:Zfp276
|
UTSW |
8 |
123,982,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Zfp276
|
UTSW |
8 |
123,992,021 (GRCm39) |
unclassified |
probably benign |
|
R5822:Zfp276
|
UTSW |
8 |
123,982,457 (GRCm39) |
missense |
probably benign |
|
R6059:Zfp276
|
UTSW |
8 |
123,994,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6186:Zfp276
|
UTSW |
8 |
123,982,672 (GRCm39) |
nonsense |
probably null |
|
R6947:Zfp276
|
UTSW |
8 |
123,981,643 (GRCm39) |
missense |
probably benign |
|
R6975:Zfp276
|
UTSW |
8 |
123,983,570 (GRCm39) |
nonsense |
probably null |
|
R7313:Zfp276
|
UTSW |
8 |
123,994,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R9055:Zfp276
|
UTSW |
8 |
123,985,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCTCCACTTAGGGTCTCTGG -3'
(R):5'- GGAAAGACAGCTACTTCCTACC -3'
Sequencing Primer
(F):5'- CTCCACTTAGGGTCTCTGGTAAGAAG -3'
(R):5'- CTTATTTAAGCAAGGGGCCGACTC -3'
|
Posted On |
2016-06-06 |