Incidental Mutation 'R0211:Zfp457'
| ID |
26252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp457
|
| Ensembl Gene |
ENSMUSG00000055341 |
| Gene Name |
zinc finger protein 457 |
| Synonyms |
Rslcan-6 |
| MMRRC Submission |
038462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R0211 (G1)
|
| Quality Score |
185 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67440514-67454476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 67441211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 359
(G359R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049705]
[ENSMUST00000224325]
|
| AlphaFold |
L7N1X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049705
AA Change: G455R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: G455R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224325
AA Change: G359R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225090
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225338
|
| Coding Region Coverage |
- 1x: 96.9%
- 3x: 92.1%
- 10x: 58.4%
- 20x: 15.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,262,870 (GRCm39) |
L1401P |
possibly damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,607,581 (GRCm39) |
L100P |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,621,576 (GRCm39) |
T407A |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,460 (GRCm39) |
M242K |
probably damaging |
Het |
| Atad5 |
T |
G |
11: 79,986,473 (GRCm39) |
V520G |
probably benign |
Het |
| Cbr2 |
T |
A |
11: 120,621,614 (GRCm39) |
I88L |
probably benign |
Het |
| Ccdc51 |
T |
C |
9: 108,918,441 (GRCm39) |
M10T |
probably benign |
Het |
| Cryba1 |
T |
A |
11: 77,609,693 (GRCm39) |
Y179F |
probably damaging |
Het |
| Dcaf4 |
T |
A |
12: 83,582,735 (GRCm39) |
F277I |
probably damaging |
Het |
| Ddost |
G |
A |
4: 138,036,913 (GRCm39) |
V159M |
probably damaging |
Het |
| Dnase2a |
A |
G |
8: 85,635,417 (GRCm39) |
|
probably benign |
Het |
| Efcc1 |
A |
T |
6: 87,726,136 (GRCm39) |
T312S |
probably benign |
Het |
| Ermard |
A |
T |
17: 15,242,205 (GRCm39) |
Q127L |
probably damaging |
Het |
| Ggnbp2 |
G |
A |
11: 84,731,139 (GRCm39) |
T325M |
probably damaging |
Het |
| H2-T5 |
T |
C |
17: 36,478,899 (GRCm39) |
T117A |
probably damaging |
Het |
| Ift74 |
C |
T |
4: 94,567,492 (GRCm39) |
T395I |
probably benign |
Het |
| Irf8 |
A |
T |
8: 121,466,714 (GRCm39) |
D53V |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,803,813 (GRCm39) |
Y69C |
probably damaging |
Het |
| Lpin3 |
A |
T |
2: 160,740,601 (GRCm39) |
D382V |
probably damaging |
Het |
| Map4k3 |
C |
T |
17: 80,952,270 (GRCm39) |
A179T |
probably damaging |
Het |
| Nck1 |
A |
T |
9: 100,379,820 (GRCm39) |
W144R |
probably damaging |
Het |
| Nin |
T |
G |
12: 70,061,649 (GRCm39) |
T2072P |
probably damaging |
Het |
| Nop2 |
T |
G |
6: 125,118,307 (GRCm39) |
L529R |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,255 (GRCm39) |
F1454S |
probably benign |
Het |
| Or10ak7 |
T |
A |
4: 118,791,467 (GRCm39) |
M191L |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,646 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or8j3c |
A |
C |
2: 86,253,451 (GRCm39) |
S190A |
probably damaging |
Het |
| Pcdhb10 |
A |
T |
18: 37,547,059 (GRCm39) |
M712L |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,670,227 (GRCm39) |
A935V |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,022,106 (GRCm39) |
V514A |
possibly damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,932,731 (GRCm39) |
Y568* |
probably null |
Het |
| Rgr |
T |
G |
14: 36,768,925 (GRCm39) |
T37P |
probably damaging |
Het |
| Rpusd2 |
A |
G |
2: 118,868,893 (GRCm39) |
S439G |
probably benign |
Het |
| Slc6a21 |
A |
C |
7: 44,937,667 (GRCm39) |
T653P |
possibly damaging |
Het |
| Spdef |
C |
T |
17: 27,933,894 (GRCm39) |
R309H |
probably damaging |
Het |
| Srp68 |
A |
T |
11: 116,156,377 (GRCm39) |
Y84N |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,972,839 (GRCm39) |
M652L |
probably benign |
Het |
| Tnk1 |
A |
G |
11: 69,746,007 (GRCm39) |
V306A |
probably damaging |
Het |
| Tnnc2 |
T |
A |
2: 164,619,404 (GRCm39) |
I147F |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,293,132 (GRCm39) |
N181S |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,039,051 (GRCm39) |
S682T |
probably benign |
Het |
| Wasl |
G |
T |
6: 24,633,892 (GRCm39) |
A124E |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,605,743 (GRCm39) |
H388R |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,749,612 (GRCm39) |
T262A |
probably damaging |
Het |
| Zfp872 |
T |
A |
9: 22,111,469 (GRCm39) |
I316N |
probably damaging |
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 |
|
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 |
|
R7859:Zfp457
|
UTSW |
13 |
67,454,445 (GRCm39) |
start gained |
probably benign |
|
|
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 |
|
| Posted On |
2013-04-16 |
Incidental Mutation