Incidental Mutation 'R1084:Zfp276'
ID |
84957 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp276
|
Ensembl Gene |
ENSMUSG00000001065 |
Gene Name |
zinc finger protein (C2H2 type) 276 |
Synonyms |
D8Ertd377e, D8Ertd370e |
MMRRC Submission |
039170-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R1084 (G1)
|
Quality Score |
148 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
123980934-123996484 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 123981462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 3
(R3Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001092]
[ENSMUST00000117643]
[ENSMUST00000118279]
[ENSMUST00000122363]
[ENSMUST00000127664]
[ENSMUST00000154450]
[ENSMUST00000155869]
|
AlphaFold |
Q8CE64 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001092
AA Change: R3Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000001092 Gene: ENSMUSG00000001065 AA Change: R3Q
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: ENSMUST00000117643
|
SMART Domains |
Protein: ENSMUSP00000113748 Gene: ENSMUSG00000001062
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
Pfam:VPS9
|
528 |
645 |
8.5e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118279
|
SMART Domains |
Protein: ENSMUSP00000113634 Gene: ENSMUSG00000001062
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
Pfam:VPS9
|
528 |
645 |
1.2e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122363
|
SMART Domains |
Protein: ENSMUSP00000113575 Gene: ENSMUSG00000001062
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
Pfam:VPS9
|
528 |
644 |
5.6e-27 |
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: ENSMUST00000129591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130275
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154450
AA Change: R3Q
|
SMART Domains |
Protein: ENSMUSP00000119771 Gene: ENSMUSG00000001065 AA Change: R3Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150356
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137569
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146136
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155869
|
SMART Domains |
Protein: ENSMUSP00000122184 Gene: ENSMUSG00000001062
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
coiled coil region
|
187 |
223 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0795 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
A |
15: 60,790,004 (GRCm39) |
|
probably benign |
Het |
Abcg4 |
C |
T |
9: 44,188,766 (GRCm39) |
V476M |
probably benign |
Het |
Arhgap9 |
A |
G |
10: 127,163,797 (GRCm39) |
S478G |
probably damaging |
Het |
Blvra |
A |
G |
2: 126,922,573 (GRCm39) |
T3A |
probably benign |
Het |
Crygb |
C |
T |
1: 65,119,654 (GRCm39) |
D109N |
possibly damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,033,484 (GRCm39) |
T207S |
probably benign |
Het |
Cyp4b1 |
A |
G |
4: 115,497,509 (GRCm39) |
V163A |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,323,717 (GRCm39) |
S1222R |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,343,598 (GRCm39) |
V2333I |
probably benign |
Het |
Eral1 |
C |
T |
11: 77,965,324 (GRCm39) |
V364M |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,033,974 (GRCm39) |
V2542A |
possibly damaging |
Het |
Glcci1 |
C |
T |
6: 8,573,221 (GRCm39) |
Q50* |
probably null |
Het |
Heg1 |
A |
G |
16: 33,527,367 (GRCm39) |
D109G |
probably benign |
Het |
Lama1 |
C |
A |
17: 68,111,464 (GRCm39) |
S2238R |
probably benign |
Het |
Ltbp1 |
G |
A |
17: 75,666,420 (GRCm39) |
W1053* |
probably null |
Het |
Ly6f |
T |
C |
15: 75,140,622 (GRCm39) |
L15P |
probably damaging |
Het |
Mapk8 |
T |
A |
14: 33,110,760 (GRCm39) |
K290* |
probably null |
Het |
Mbd1 |
A |
G |
18: 74,402,603 (GRCm39) |
Y35C |
probably damaging |
Het |
Mcf2l |
T |
C |
8: 13,052,645 (GRCm39) |
V503A |
possibly damaging |
Het |
Morc2a |
A |
G |
11: 3,600,454 (GRCm39) |
|
probably benign |
Het |
Ms4a8a |
T |
A |
19: 11,053,726 (GRCm39) |
I127F |
probably damaging |
Het |
Myo1d |
T |
C |
11: 80,575,221 (GRCm39) |
Y165C |
probably damaging |
Het |
Ocel1 |
G |
T |
8: 71,824,632 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
C |
T |
17: 84,878,554 (GRCm39) |
T603M |
probably damaging |
Het |
Rab6b |
C |
T |
9: 103,039,834 (GRCm39) |
T128M |
probably damaging |
Het |
Scel |
G |
T |
14: 103,802,279 (GRCm39) |
|
probably null |
Het |
Sec23a |
A |
T |
12: 59,031,921 (GRCm39) |
N436K |
probably damaging |
Het |
Sec24a |
A |
G |
11: 51,604,408 (GRCm39) |
L736P |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
Tex15 |
A |
G |
8: 34,067,032 (GRCm39) |
E2154G |
probably benign |
Het |
Tnrc18 |
A |
G |
5: 142,750,522 (GRCm39) |
|
probably null |
Het |
Tpr |
A |
G |
1: 150,317,912 (GRCm39) |
Q2140R |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,610,985 (GRCm39) |
R834G |
probably benign |
Het |
Zscan4d |
A |
T |
7: 10,898,932 (GRCm39) |
L115Q |
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 |
|
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 |
|
R5018: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'- GAGCTACTGCTCTGAAGGGTTTCTG -3'
(R):5'- AAAGGGCCTCTATCGGCAGTTCTC -3'
Sequencing Primer
(F):5'- GTTCCGAGAGACCCGAAG -3'
(R):5'- CTATCGGCAGTTCTCCAGAG -3'
|
Posted On |
2013-11-18 |