Incidental Mutation 'R5017:Zfp276'
ID |
385620 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp276
|
Ensembl Gene |
ENSMUSG00000001065 |
Gene Name |
zinc finger protein (C2H2 type) 276 |
Synonyms |
D8Ertd377e, D8Ertd370e |
MMRRC Submission |
042608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R5017 (G1)
|
Quality Score |
97 |
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: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 87.9%
|
Validation Efficiency |
96% (46/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
T |
C |
14: 68,810,694 (GRCm39) |
D154G |
probably benign |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Arhgef3 |
G |
T |
14: 26,987,487 (GRCm39) |
R20L |
possibly damaging |
Het |
Birc2 |
A |
T |
9: 7,818,886 (GRCm39) |
C568* |
probably null |
Het |
Bltp3a |
T |
A |
17: 28,113,713 (GRCm39) |
L1295* |
probably null |
Het |
Cep44 |
A |
G |
8: 56,997,242 (GRCm39) |
S99P |
possibly damaging |
Het |
Clstn2 |
A |
G |
9: 97,365,139 (GRCm39) |
W456R |
probably damaging |
Het |
Cog5 |
T |
A |
12: 31,970,604 (GRCm39) |
S783T |
probably benign |
Het |
Endod1 |
G |
A |
9: 14,268,187 (GRCm39) |
R433* |
probably null |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Gdpd4 |
C |
A |
7: 97,653,482 (GRCm39) |
Y498* |
probably null |
Het |
Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
Ifit3 |
A |
C |
19: 34,564,592 (GRCm39) |
N46T |
possibly damaging |
Het |
Kcnh8 |
T |
C |
17: 53,200,958 (GRCm39) |
L464S |
probably damaging |
Het |
Lrrc9 |
C |
A |
12: 72,553,099 (GRCm39) |
R1334S |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,345,906 (GRCm39) |
F2631L |
probably damaging |
Het |
Mafa |
T |
C |
15: 75,619,338 (GRCm39) |
H145R |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,226,795 (GRCm39) |
T1411A |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,571,717 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,807,484 (GRCm39) |
|
probably benign |
Het |
Or10g6 |
A |
T |
9: 39,933,672 (GRCm39) |
|
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,821 (GRCm39) |
Y251* |
probably null |
Het |
Or8g20 |
A |
T |
9: 39,396,051 (GRCm39) |
M166K |
possibly damaging |
Het |
Pde11a |
A |
T |
2: 75,966,711 (GRCm39) |
D579E |
probably benign |
Het |
Phkb |
A |
T |
8: 86,776,438 (GRCm39) |
H954L |
probably benign |
Het |
Phldb3 |
C |
T |
7: 24,319,521 (GRCm39) |
T353M |
probably damaging |
Het |
Pigu |
A |
T |
2: 155,141,128 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,353,104 (GRCm39) |
|
probably null |
Het |
Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
C |
A |
18: 78,899,809 (GRCm39) |
G1286V |
possibly damaging |
Het |
Siglecg |
T |
A |
7: 43,060,810 (GRCm39) |
|
probably benign |
Het |
Slc25a46 |
A |
T |
18: 31,738,836 (GRCm39) |
H118Q |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,132,510 (GRCm39) |
F167I |
unknown |
Het |
Sycp1 |
A |
T |
3: 102,803,303 (GRCm39) |
|
probably null |
Het |
Tmem132c |
A |
G |
5: 127,640,414 (GRCm39) |
T862A |
probably benign |
Het |
Tmem256 |
T |
C |
11: 69,729,818 (GRCm39) |
|
probably benign |
Het |
Tpr |
A |
T |
1: 150,274,388 (GRCm39) |
E98D |
probably benign |
Het |
Trdn |
A |
G |
10: 33,344,155 (GRCm39) |
D623G |
probably benign |
Het |
Trip11 |
T |
C |
12: 101,812,879 (GRCm39) |
N1485S |
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,894,580 (GRCm39) |
|
probably benign |
Het |
Vmn1r227 |
T |
C |
17: 20,956,340 (GRCm39) |
|
noncoding transcript |
Het |
Xpo6 |
G |
A |
7: 125,703,919 (GRCm39) |
A21V |
probably benign |
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 |
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'- GTTCTCCACTTAGGGTCTCTGG -3'
(R):5'- ACTGGAAAGACAGCTACTTCC -3'
Sequencing Primer
(F):5'- CTCCACTTAGGGTCTCTGGTAAGAAG -3'
(R):5'- CTTATTTAAGCAAGGGGCCGACTC -3'
|
Posted On |
2016-05-10 |