Incidental Mutation 'R2348:Zfp457'
| ID |
246036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp457
|
| Ensembl Gene |
ENSMUSG00000055341 |
| Gene Name |
zinc finger protein 457 |
| Synonyms |
Rslcan-6 |
| MMRRC Submission |
040330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R2348 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67440514-67454476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67441468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 369
(D369V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049705]
[ENSMUST00000224325]
|
| AlphaFold |
L7N1X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049705
AA Change: D369V
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: D369V
| 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: D273V
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225090
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225338
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1 |
A |
G |
17: 93,509,702 (GRCm39) |
D51G |
possibly damaging |
Het |
| Ano3 |
A |
G |
2: 110,614,088 (GRCm39) |
I205T |
possibly damaging |
Het |
| Arhgap10 |
A |
T |
8: 78,177,555 (GRCm39) |
|
probably benign |
Het |
| Asb18 |
T |
G |
1: 89,942,256 (GRCm39) |
D15A |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,403,568 (GRCm39) |
S1368I |
possibly damaging |
Het |
| Atp9a |
A |
T |
2: 168,552,746 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,062,573 (GRCm39) |
V653A |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,917,017 (GRCm39) |
S304T |
probably benign |
Het |
| Dennd4c |
G |
A |
4: 86,729,764 (GRCm39) |
V789I |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,543,126 (GRCm39) |
D176E |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,090,840 (GRCm39) |
T747A |
probably benign |
Het |
| Htr2a |
A |
T |
14: 74,882,550 (GRCm39) |
N179Y |
probably damaging |
Het |
| Ift52 |
T |
C |
2: 162,887,177 (GRCm39) |
V393A |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,050,998 (GRCm39) |
S562P |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,616,183 (GRCm39) |
S457P |
probably benign |
Het |
| Kiss1r |
G |
T |
10: 79,757,654 (GRCm39) |
R336L |
probably benign |
Het |
| Klra13-ps |
A |
T |
6: 130,268,271 (GRCm39) |
|
noncoding transcript |
Het |
| Krt8 |
T |
C |
15: 101,907,300 (GRCm39) |
D261G |
probably benign |
Het |
| Mycl |
A |
T |
4: 122,890,745 (GRCm39) |
T144S |
probably benign |
Het |
| Naip5 |
C |
T |
13: 100,356,246 (GRCm39) |
R1123K |
probably benign |
Het |
| Or5b122 |
A |
T |
19: 13,563,553 (GRCm39) |
E295V |
probably damaging |
Het |
| Rasip1 |
T |
G |
7: 45,278,507 (GRCm39) |
|
probably null |
Het |
| Rc3h1 |
C |
A |
1: 160,778,430 (GRCm39) |
R452S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,461 (GRCm39) |
K258N |
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,683,664 (GRCm39) |
S29P |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CACATACTTCACACTTGTAGGGTTT -3'
(R):5'- GTGAAGTTTGTGGCAAGACCTT -3'
Sequencing Primer
(F):5'- GCCACATATGTCACACTTGTAGGG -3'
(R):5'- AGTTTGTGGCAAGACCTTCCATTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation