Incidental Mutation 'R5412:Zfp276'
| ID |
427539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp276
|
| Ensembl Gene |
ENSMUSG00000001065 |
| Gene Name |
zinc finger protein (C2H2 type) 276 |
| Synonyms |
D8Ertd377e, D8Ertd370e |
| MMRRC Submission |
042981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R5412 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123980934-123996484 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123982520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 95
(I95F)
|
| 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: I95F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001092
Gene: ENSMUSG00000001065
AA Change: I95F
| 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: I95F
|
| SMART Domains |
Protein: ENSMUSP00000119771
Gene: ENSMUSG00000001065
AA Change: I95F
| 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: ENSMUST00000150356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146136
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
A |
9: 55,886,036 (GRCm39) |
N36Y |
probably damaging |
Het |
| Ankfn1 |
T |
A |
11: 89,396,007 (GRCm39) |
E246D |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,446,913 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,653,522 (GRCm39) |
D300E |
probably benign |
Het |
| C3 |
T |
C |
17: 57,527,187 (GRCm39) |
D754G |
probably benign |
Het |
| Ccpg1 |
A |
T |
9: 72,917,588 (GRCm39) |
Q240L |
probably damaging |
Het |
| Cdk13 |
G |
A |
13: 17,941,115 (GRCm39) |
P650S |
probably damaging |
Het |
| Celsr2 |
G |
T |
3: 108,307,311 (GRCm39) |
S1933Y |
probably damaging |
Het |
| Cep135 |
T |
A |
5: 76,764,709 (GRCm39) |
H562Q |
probably benign |
Het |
| Cyp26a1 |
G |
T |
19: 37,689,630 (GRCm39) |
C442F |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,674,503 (GRCm39) |
S425G |
probably benign |
Het |
| Espn |
C |
T |
4: 152,212,582 (GRCm39) |
V752M |
probably damaging |
Het |
| Glyr1 |
A |
G |
16: 4,854,297 (GRCm39) |
S113P |
possibly damaging |
Het |
| Grk4 |
A |
T |
5: 34,902,612 (GRCm39) |
Y388F |
probably benign |
Het |
| H2-T15 |
C |
T |
17: 36,366,936 (GRCm39) |
C369Y |
probably benign |
Het |
| Heca |
C |
A |
10: 17,778,044 (GRCm39) |
V518F |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,236,629 (GRCm39) |
P391S |
possibly damaging |
Het |
| Hnrnpl |
A |
G |
7: 28,510,529 (GRCm39) |
|
probably benign |
Het |
| Hsd3b2 |
A |
G |
3: 98,619,208 (GRCm39) |
S246P |
possibly damaging |
Het |
| Ifna11 |
C |
T |
4: 88,738,380 (GRCm39) |
P62L |
probably damaging |
Het |
| Katnal2 |
A |
T |
18: 77,090,131 (GRCm39) |
V292D |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,137,593 (GRCm39) |
I371F |
probably damaging |
Het |
| Ly6g2 |
A |
T |
15: 75,089,669 (GRCm39) |
E59V |
probably damaging |
Het |
| Map10 |
A |
T |
8: 126,397,724 (GRCm39) |
L372F |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,324,219 (GRCm39) |
M87L |
probably damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,249,701 (GRCm39) |
H1201R |
possibly damaging |
Het |
| Ndc80 |
C |
A |
17: 71,821,226 (GRCm39) |
D241Y |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,205,508 (GRCm39) |
M94V |
possibly damaging |
Het |
| Nkx2-6 |
G |
T |
14: 69,412,195 (GRCm39) |
R121L |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or6a2 |
A |
G |
7: 106,600,842 (GRCm39) |
V75A |
probably damaging |
Het |
| Otop1 |
A |
G |
5: 38,455,328 (GRCm39) |
I241V |
probably benign |
Het |
| Panx2 |
C |
A |
15: 88,953,135 (GRCm39) |
P542H |
possibly damaging |
Het |
| Pcdha5 |
C |
A |
18: 37,095,510 (GRCm39) |
P673Q |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
| Prdx6 |
A |
T |
1: 161,071,860 (GRCm39) |
I102N |
probably damaging |
Het |
| Prkd3 |
T |
A |
17: 79,262,140 (GRCm39) |
I725F |
possibly damaging |
Het |
| Selenon |
T |
C |
4: 134,269,749 (GRCm39) |
N395S |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,533,616 (GRCm39) |
E224K |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,213,496 (GRCm39) |
M18V |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,335,400 (GRCm39) |
E318G |
possibly damaging |
Het |
| Srrt |
A |
T |
5: 137,294,549 (GRCm39) |
Y786N |
probably damaging |
Het |
| Stk36 |
G |
T |
1: 74,644,615 (GRCm39) |
|
probably null |
Het |
| Stpg1 |
T |
A |
4: 135,252,786 (GRCm39) |
L179Q |
possibly damaging |
Het |
| Stra8 |
G |
A |
6: 34,907,885 (GRCm39) |
M1I |
probably null |
Het |
| Tiam1 |
G |
T |
16: 89,681,753 (GRCm39) |
H408Q |
possibly damaging |
Het |
| Tm2d1 |
G |
A |
4: 98,253,855 (GRCm39) |
T106I |
probably damaging |
Het |
| Tmem150b |
A |
C |
7: 4,719,368 (GRCm39) |
I184S |
probably null |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,081 (GRCm39) |
I255V |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,533,531 (GRCm39) |
A868T |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,341,620 (GRCm39) |
D1216N |
probably null |
Het |
| Zfp26 |
T |
C |
9: 20,349,535 (GRCm39) |
Y343C |
possibly damaging |
Het |
| Zfp330 |
T |
C |
8: 83,490,865 (GRCm39) |
E315G |
probably benign |
Het |
| Zfp683 |
C |
A |
4: 133,781,862 (GRCm39) |
P56Q |
probably damaging |
Het |
| Zpld1 |
T |
A |
16: 55,052,646 (GRCm39) |
S323C |
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 |
|
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 |
|
|
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'- GCACTTCTCTGCTTGCAGTG -3'
(R):5'- GCCTACTTTGTACAAGGCTTCC -3'
Sequencing Primer
(F):5'- CTTGCAGTGTTCGGAGGCC -3'
(R):5'- ACGTTGACTCTCTGTAAGAAGGTCC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation