Incidental Mutation 'R2994:Zfp459'
| ID |
257154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp459
|
| Ensembl Gene |
ENSMUSG00000055560 |
| Gene Name |
zinc finger protein 459 |
| Synonyms |
Rslcan-14, 9930025G17Rik |
| MMRRC Submission |
040529-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2994 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67553831-67569537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67556853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 77
(P77S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056470]
[ENSMUST00000223644]
[ENSMUST00000224113]
|
| AlphaFold |
Q8BZ17 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056470
AA Change: P77S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000063027
Gene: ENSMUSG00000055560
AA Change: P77S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
2.22e-30 |
SMART |
|
ZnF_C2H2
|
106 |
128 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
190 |
210 |
2.97e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223644
AA Change: P47S
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224113
AA Change: P77S
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225810
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,603,538 (GRCm39) |
S577P |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,251,785 (GRCm39) |
T1826A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Btnl6 |
C |
A |
17: 34,734,498 (GRCm39) |
R88I |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,830,617 (GRCm39) |
Y281F |
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,845,300 (GRCm39) |
T148A |
probably benign |
Het |
| Fpr3 |
C |
T |
17: 18,191,130 (GRCm39) |
Q134* |
probably null |
Het |
| Gbp4 |
A |
T |
5: 105,284,886 (GRCm39) |
M1K |
probably null |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
A |
G |
9: 72,638,185 (GRCm39) |
D440G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,490,162 (GRCm39) |
D522N |
probably damaging |
Het |
| Oprk1 |
T |
C |
1: 5,672,955 (GRCm39) |
V364A |
probably benign |
Het |
| Or1e35 |
T |
C |
11: 73,797,541 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or5d18 |
A |
G |
2: 87,865,301 (GRCm39) |
Y61H |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,027,473 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
C |
11: 80,351,493 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,610 (GRCm39) |
D576V |
probably damaging |
Het |
| Rundc3a |
C |
T |
11: 102,291,489 (GRCm39) |
T327I |
probably damaging |
Het |
| Sh3rf1 |
A |
G |
8: 61,825,609 (GRCm39) |
T535A |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,563 (GRCm39) |
E101V |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,553,802 (GRCm39) |
T406S |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,090,215 (GRCm39) |
E609G |
probably damaging |
Het |
| Zfp612 |
A |
G |
8: 110,816,049 (GRCm39) |
K380E |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,228 (GRCm39) |
E527G |
probably damaging |
Het |
|
| Other mutations in Zfp459 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03115:Zfp459
|
APN |
13 |
67,556,796 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:Zfp459
|
UTSW |
13 |
67,556,393 (GRCm39) |
frame shift |
probably null |
|
|
FR4589:Zfp459
|
UTSW |
13 |
67,556,394 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Zfp459
|
UTSW |
13 |
67,556,395 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Zfp459
|
UTSW |
13 |
67,556,394 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Zfp459
|
UTSW |
13 |
67,556,393 (GRCm39) |
frame shift |
probably null |
|
|
R1185:Zfp459
|
UTSW |
13 |
67,556,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1185:Zfp459
|
UTSW |
13 |
67,556,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1185:Zfp459
|
UTSW |
13 |
67,556,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2130:Zfp459
|
UTSW |
13 |
67,556,395 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4180:Zfp459
|
UTSW |
13 |
67,556,562 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4306:Zfp459
|
UTSW |
13 |
67,561,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Zfp459
|
UTSW |
13 |
67,561,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5493:Zfp459
|
UTSW |
13 |
67,556,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:Zfp459
|
UTSW |
13 |
67,556,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Zfp459
|
UTSW |
13 |
67,556,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:Zfp459
|
UTSW |
13 |
67,556,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCTTAAGGGATTTAGATACCC -3'
(R):5'- GTGAATTATGCTCATTGCCTACAAG -3'
Sequencing Primer
(F):5'- TGACACACTTCACACTTGTAGGG -3'
(R):5'- TGCCTACAAGTACTAAAATATACTGC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation