Incidental Mutation 'R5714:Zfp457'
| ID |
451065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp457
|
| Ensembl Gene |
ENSMUSG00000055341 |
| Gene Name |
zinc finger protein 457 |
| Synonyms |
Rslcan-6 |
| MMRRC Submission |
043186-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67440514-67454476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 67444490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 4
(M4I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049705]
[ENSMUST00000224325]
|
| AlphaFold |
L7N1X4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049705
AA Change: M4I
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: M4I
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225090
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225338
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
G |
T |
18: 65,438,532 (GRCm39) |
Q1421K |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,580,258 (GRCm39) |
T133M |
probably benign |
Het |
| Bcar3 |
G |
A |
3: 122,248,736 (GRCm39) |
V112M |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,039,804 (GRCm39) |
K1476R |
probably benign |
Het |
| Cdc42ep1 |
C |
A |
15: 78,733,977 (GRCm39) |
A359E |
possibly damaging |
Het |
| Cemip |
T |
A |
7: 83,624,387 (GRCm39) |
D483V |
probably damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,700,799 (GRCm39) |
R156H |
probably damaging |
Het |
| Dpys |
T |
A |
15: 39,720,553 (GRCm39) |
H69L |
probably damaging |
Het |
| Fbxl21 |
A |
G |
13: 56,674,885 (GRCm39) |
I79V |
probably benign |
Het |
| Fgf9 |
T |
C |
14: 58,347,022 (GRCm39) |
L205P |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,562,835 (GRCm39) |
F144L |
probably damaging |
Het |
| Flnb |
A |
C |
14: 7,929,073 (GRCm38) |
D1934A |
probably damaging |
Het |
| Garre1 |
G |
A |
7: 33,939,941 (GRCm39) |
Q717* |
probably null |
Het |
| Glul |
T |
C |
1: 153,782,243 (GRCm39) |
|
probably benign |
Het |
| Helz |
T |
A |
11: 107,517,347 (GRCm39) |
|
probably null |
Het |
| Kap |
A |
G |
6: 133,828,956 (GRCm39) |
Y42H |
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,285,150 (GRCm39) |
V1040A |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,683 (GRCm39) |
|
probably null |
Het |
| Lypd3 |
A |
G |
7: 24,338,494 (GRCm39) |
T182A |
possibly damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,215,434 (GRCm39) |
I210K |
probably damaging |
Het |
| Nat8f2 |
A |
G |
6: 85,844,891 (GRCm39) |
V157A |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,187 (GRCm39) |
|
probably null |
Het |
| Pard3b |
C |
A |
1: 62,677,075 (GRCm39) |
A1140E |
probably null |
Het |
| Pcnt |
A |
T |
10: 76,256,325 (GRCm39) |
D638E |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,673 (GRCm39) |
I834T |
probably damaging |
Het |
| Phyhd1 |
T |
A |
2: 30,169,994 (GRCm39) |
L162H |
probably damaging |
Het |
| Polg |
C |
A |
7: 79,101,739 (GRCm39) |
A1026S |
possibly damaging |
Het |
| Prl7c1 |
A |
T |
13: 27,962,949 (GRCm39) |
L18* |
probably null |
Het |
| Rars2 |
T |
A |
4: 34,645,779 (GRCm39) |
M232K |
probably benign |
Het |
| Rtl1 |
A |
G |
12: 109,560,114 (GRCm39) |
V575A |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,674,664 (GRCm39) |
T40S |
probably benign |
Het |
| Slc22a19 |
T |
C |
19: 7,688,387 (GRCm39) |
T58A |
probably damaging |
Het |
| Slc27a6 |
A |
T |
18: 58,731,625 (GRCm39) |
E325V |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Srd5a3 |
T |
A |
5: 76,301,413 (GRCm39) |
F214Y |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 116,004,092 (GRCm39) |
L5Q |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,684,016 (GRCm39) |
Q779K |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,652,837 (GRCm39) |
P216S |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,132,454 (GRCm39) |
Q892L |
probably benign |
Het |
| Vgll4 |
A |
T |
6: 114,867,737 (GRCm39) |
M38K |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,773,121 (GRCm39) |
I500T |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,707,563 (GRCm39) |
I135V |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,675,261 (GRCm39) |
|
probably null |
Het |
| Zfp532 |
G |
A |
18: 65,756,606 (GRCm39) |
G180R |
possibly damaging |
Het |
| Zfp97 |
A |
G |
17: 17,365,871 (GRCm39) |
T457A |
possibly 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CAAAGGGAGCAACGTTCATGC -3'
(R):5'- CCTGGTCATCAAATTCCTACCTAAC -3'
Sequencing Primer
(F):5'- GCAACGTTCATGCTGACAG -3'
(R):5'- TCTCCTATAATGGACTATTGCCAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation