Incidental Mutation 'IGL01329:Zfp457'
| ID |
74434 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp457
|
| Ensembl Gene |
ENSMUSG00000055341 |
| Gene Name |
zinc finger protein 457 |
| Synonyms |
Rslcan-6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL01329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67440514-67454476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67442330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 82
(T82A)
|
| 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: T82A
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: T82A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,944,166 (GRCm39) |
|
probably null |
Het |
| Ankib1 |
A |
T |
5: 3,784,194 (GRCm39) |
|
probably benign |
Het |
| Birc2 |
T |
C |
9: 7,860,733 (GRCm39) |
Y195C |
probably damaging |
Het |
| Cand2 |
T |
C |
6: 115,759,755 (GRCm39) |
I142T |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,592,062 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,479,534 (GRCm39) |
G217D |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,917,385 (GRCm39) |
H25L |
unknown |
Het |
| Cfap95 |
A |
G |
19: 23,630,100 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,778,889 (GRCm39) |
V266A |
probably benign |
Het |
| D3Ertd751e |
A |
G |
3: 41,703,132 (GRCm39) |
D69G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,622,164 (GRCm39) |
I1518V |
probably damaging |
Het |
| Entpd8 |
A |
G |
2: 24,974,358 (GRCm39) |
K381R |
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,335,397 (GRCm39) |
K345I |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,967,281 (GRCm39) |
V352A |
probably damaging |
Het |
| Gbp11 |
C |
T |
5: 105,475,482 (GRCm39) |
|
probably null |
Het |
| Gm11992 |
A |
G |
11: 9,018,383 (GRCm39) |
*292W |
probably null |
Het |
| Ifnar2 |
T |
A |
16: 91,188,599 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,230,111 (GRCm39) |
K661R |
probably benign |
Het |
| Inf2 |
G |
T |
12: 112,578,290 (GRCm39) |
E651* |
probably null |
Het |
| Ints1 |
A |
G |
5: 139,753,258 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
T |
C |
9: 106,447,832 (GRCm39) |
K26E |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,951,613 (GRCm39) |
V289A |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,205,215 (GRCm39) |
K319R |
possibly damaging |
Het |
| Nubpl |
T |
C |
12: 52,352,638 (GRCm39) |
V291A |
probably damaging |
Het |
| Or4f56 |
A |
G |
2: 111,703,295 (GRCm39) |
F302L |
probably benign |
Het |
| Or4k15c |
C |
T |
14: 50,321,454 (GRCm39) |
R228H |
probably benign |
Het |
| Or8b57 |
A |
G |
9: 40,003,324 (GRCm39) |
S313P |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,551 (GRCm39) |
N84D |
probably benign |
Het |
| Otof |
A |
G |
5: 30,598,723 (GRCm39) |
S29P |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,927,545 (GRCm39) |
D436G |
possibly damaging |
Het |
| Rasef |
T |
A |
4: 73,645,882 (GRCm39) |
T496S |
probably damaging |
Het |
| Saa2 |
A |
G |
7: 46,402,896 (GRCm39) |
D49G |
probably benign |
Het |
| Scart1 |
T |
A |
7: 139,804,552 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,547,852 (GRCm39) |
I1015V |
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,907,119 (GRCm39) |
Y154H |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,002,865 (GRCm39) |
H1863R |
probably benign |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Svil |
A |
G |
18: 5,064,501 (GRCm39) |
E1111G |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,322 (GRCm39) |
V112A |
probably damaging |
Het |
| Vmn1r205 |
T |
C |
13: 22,776,273 (GRCm39) |
I276M |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,882,776 (GRCm39) |
I939N |
possibly damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,553,600 (GRCm39) |
M515V |
probably benign |
Het |
|
| Other mutations in Zfp457 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation