Incidental Mutation 'R4506:Zfp276'
| ID |
332020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp276
|
| Ensembl Gene |
ENSMUSG00000001065 |
| Gene Name |
zinc finger protein (C2H2 type) 276 |
| Synonyms |
D8Ertd377e, D8Ertd370e |
| MMRRC Submission |
041584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R4506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123980934-123996484 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 123991666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001092]
[ENSMUST00000035495]
[ENSMUST00000127664]
[ENSMUST00000154450]
|
| AlphaFold |
Q8CE64 |
| Predicted Effect |
probably null
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 |
probably null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211934
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213090
|
| Meta Mutation Damage Score |
0.9597 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,685,087 (GRCm39) |
P137T |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,152,445 (GRCm39) |
I1367N |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,867,492 (GRCm39) |
L152Q |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,009,271 (GRCm39) |
D232N |
possibly damaging |
Het |
| Anapc4 |
A |
T |
5: 52,993,072 (GRCm39) |
N61I |
possibly damaging |
Het |
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,747,290 (GRCm39) |
C191S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
A |
T |
5: 96,234,033 (GRCm39) |
V326E |
possibly damaging |
Het |
| Fcer2a |
A |
T |
8: 3,738,603 (GRCm39) |
|
probably null |
Het |
| Fgfr3 |
A |
G |
5: 33,887,343 (GRCm39) |
T221A |
probably damaging |
Het |
| Gm6632 |
C |
T |
5: 59,211,821 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Ip6k3 |
A |
T |
17: 27,364,154 (GRCm39) |
L298Q |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,409,647 (GRCm39) |
D1727G |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,026,688 (GRCm39) |
T589A |
possibly damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,740,928 (GRCm39) |
S752G |
probably benign |
Het |
| Mvb12a |
G |
T |
8: 71,996,103 (GRCm39) |
A86S |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,577,949 (GRCm39) |
|
probably benign |
Het |
| Or1e33 |
A |
T |
11: 73,738,521 (GRCm39) |
C143* |
probably null |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,889,761 (GRCm39) |
N1847K |
unknown |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,614,234 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
A |
T |
7: 35,152,845 (GRCm39) |
T88S |
probably damaging |
Het |
| Tbrg1 |
T |
A |
9: 37,565,691 (GRCm39) |
E87V |
probably damaging |
Het |
| Tnfsf4 |
T |
C |
1: 161,244,745 (GRCm39) |
S145P |
probably damaging |
Het |
| Tomm34 |
C |
A |
2: 163,896,292 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
A |
G |
11: 73,186,150 (GRCm39) |
N647S |
probably benign |
Het |
| Upf1 |
G |
A |
8: 70,790,216 (GRCm39) |
R637C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,679,884 (GRCm39) |
Q35H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,036,130 (GRCm39) |
V137M |
probably damaging |
Het |
| Zfp90 |
C |
T |
8: 107,151,496 (GRCm39) |
P403L |
possibly 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 |
|
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'- GGCAAGAGTCAACTGCAAGC -3'
(R):5'- ATTTAAGCAAGGGGCCGACTC -3'
Sequencing Primer
(F):5'- CTCTGGTAAGAAGAGCGA -3'
(R):5'- CTTTGGGAAGCCTGCACATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation