Incidental Mutation 'R7859:Zfp457'
| ID |
607381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp457
|
| Ensembl Gene |
ENSMUSG00000055341 |
| Gene Name |
zinc finger protein 457 |
| Synonyms |
Rslcan-6 |
| MMRRC Submission |
045912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R7859 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67440514-67454476 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 67454445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049705]
|
| AlphaFold |
L7N1X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049705
|
| SMART Domains |
Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.55e-29 |
SMART |
|
ZnF_C2H2
|
81 |
103 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
1.05e1 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
5.72e-1 |
SMART |
|
transmembrane domain
|
624 |
646 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,603,500 (GRCm39) |
L564P |
probably damaging |
Het |
| Arsb |
T |
A |
13: 93,998,615 (GRCm39) |
S308T |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,346,526 (GRCm39) |
D428G |
probably benign |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Cd300a |
T |
C |
11: 114,784,165 (GRCm39) |
Y58H |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,809,539 (GRCm39) |
I973N |
possibly damaging |
Het |
| Crkl |
T |
A |
16: 17,286,960 (GRCm39) |
M172K |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,549,774 (GRCm39) |
I647T |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,683 (GRCm39) |
T223A |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,178,044 (GRCm39) |
S372G |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,160,934 (GRCm39) |
V1814M |
probably damaging |
Het |
| Dusp22 |
A |
C |
13: 30,892,737 (GRCm39) |
K171N |
probably benign |
Het |
| Evi2a |
T |
C |
11: 79,418,452 (GRCm39) |
S53G |
probably benign |
Het |
| Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,500,880 (GRCm39) |
D723V |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,713,485 (GRCm39) |
R40* |
probably null |
Het |
| Mgam |
T |
A |
6: 40,717,113 (GRCm39) |
N265K |
possibly damaging |
Het |
| Muc6 |
G |
A |
7: 141,231,687 (GRCm39) |
T1069I |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,077,526 (GRCm39) |
L887P |
probably damaging |
Het |
| Myo1d |
T |
G |
11: 80,575,203 (GRCm39) |
D171A |
probably damaging |
Het |
| Nat2 |
T |
A |
8: 67,954,002 (GRCm39) |
F37L |
probably damaging |
Het |
| Nkx2-2 |
A |
G |
2: 147,019,730 (GRCm39) |
C236R |
unknown |
Het |
| Nrl |
G |
A |
14: 55,759,582 (GRCm39) |
S115L |
probably benign |
Het |
| Nrsn1 |
A |
C |
13: 25,446,254 (GRCm39) |
S41A |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,346 (GRCm39) |
E109V |
probably damaging |
Het |
| Pax8 |
T |
A |
2: 24,311,567 (GRCm39) |
H456L |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,790,254 (GRCm39) |
I979K |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,150,274 (GRCm39) |
N149D |
probably damaging |
Het |
| Psg28 |
A |
T |
7: 18,160,149 (GRCm39) |
V349D |
probably damaging |
Het |
| Ptpro |
G |
A |
6: 137,369,805 (GRCm39) |
|
probably null |
Het |
| Sema4d |
T |
A |
13: 51,876,387 (GRCm39) |
K94N |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,114,348 (GRCm39) |
D326E |
probably benign |
Het |
| Slc25a29 |
G |
A |
12: 108,792,756 (GRCm39) |
T274I |
probably benign |
Het |
| Slc43a1 |
T |
C |
2: 84,687,220 (GRCm39) |
F374L |
possibly damaging |
Het |
| Syne1 |
G |
T |
10: 5,107,683 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Taar4 |
T |
C |
10: 23,837,032 (GRCm39) |
V214A |
probably benign |
Het |
| Tex22 |
T |
A |
12: 113,052,103 (GRCm39) |
C54S |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,150,573 (GRCm39) |
I436F |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,743,415 (GRCm39) |
H507R |
possibly damaging |
Het |
| Usp54 |
T |
C |
14: 20,638,204 (GRCm39) |
E255G |
probably benign |
Het |
| Vmn2r109 |
G |
T |
17: 20,761,436 (GRCm39) |
F640L |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,282,212 (GRCm39) |
Y80C |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,201 (GRCm39) |
I252K |
probably benign |
Het |
|
| Other mutations in Zfp457 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Zfp457
|
APN |
13 |
67,442,330 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02259:Zfp457
|
APN |
13 |
67,444,471 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0055:Zfp457
|
UTSW |
13 |
67,442,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0055:Zfp457
|
UTSW |
13 |
67,442,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0149:Zfp457
|
UTSW |
13 |
67,440,710 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0211:Zfp457
|
UTSW |
13 |
67,441,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0211:Zfp457
|
UTSW |
13 |
67,441,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0230:Zfp457
|
UTSW |
13 |
67,442,180 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0270:Zfp457
|
UTSW |
13 |
67,441,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Zfp457
|
UTSW |
13 |
67,440,710 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0561:Zfp457
|
UTSW |
13 |
67,442,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0679:Zfp457
|
UTSW |
13 |
67,441,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Zfp457
|
UTSW |
13 |
67,441,378 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1136:Zfp457
|
UTSW |
13 |
67,441,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Zfp457
|
UTSW |
13 |
67,441,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Zfp457
|
UTSW |
13 |
67,441,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Zfp457
|
UTSW |
13 |
67,444,375 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2348:Zfp457
|
UTSW |
13 |
67,441,468 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4930:Zfp457
|
UTSW |
13 |
67,442,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Zfp457
|
UTSW |
13 |
67,441,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Zfp457
|
UTSW |
13 |
67,441,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Zfp457
|
UTSW |
13 |
67,440,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5129:Zfp457
|
UTSW |
13 |
67,441,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5714:Zfp457
|
UTSW |
13 |
67,444,490 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6017:Zfp457
|
UTSW |
13 |
67,441,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Zfp457
|
UTSW |
13 |
67,442,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Zfp457
|
UTSW |
13 |
67,441,360 (GRCm39) |
nonsense |
probably null |
|
|
R6184:Zfp457
|
UTSW |
13 |
67,440,976 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6313:Zfp457
|
UTSW |
13 |
67,440,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Zfp457
|
UTSW |
13 |
67,441,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7170:Zfp457
|
UTSW |
13 |
67,442,241 (GRCm39) |
nonsense |
probably null |
|
|
R7184:Zfp457
|
UTSW |
13 |
67,442,065 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7973:Zfp457
|
UTSW |
13 |
67,441,882 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8308:Zfp457
|
UTSW |
13 |
67,441,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8346:Zfp457
|
UTSW |
13 |
67,441,862 (GRCm39) |
nonsense |
probably null |
|
|
R9114:Zfp457
|
UTSW |
13 |
67,442,068 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9205:Zfp457
|
UTSW |
13 |
67,441,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9525:Zfp457
|
UTSW |
13 |
67,441,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Zfp457
|
UTSW |
13 |
67,440,874 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCAAACCTGTGCCCAG -3'
(R):5'- CAAATTCCATGTGCATGCCC -3'
Sequencing Primer
(F):5'- TGTGCCCAGGGACAGTG -3'
(R):5'- AGCTGCTCTCAGTGGACTGTAATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation