Incidental Mutation 'R4444:Zfp169'
| ID | 329810 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Zfp169
|
|---|
| Ensembl Gene |
ENSMUSG00000050954 |
|---|
| Gene Name | zinc finger protein 169 |
|---|
| Synonyms | |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably non essential (E-score: 0.060)
|
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| Stock # | R4444 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
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| Chromosome | 13 |
|---|
| Chromosomal Location | 48487647-48513451 bp(-) (GRCm38) |
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| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to A
at 48490337 bp
|
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| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Lysine to Methionine
at position 438
(K438M)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000135414
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110110]
[ENSMUST00000167682]
[ENSMUST00000176176]
[ENSMUST00000176949]
[ENSMUST00000176996]
[ENSMUST00000177530]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110110
AA Change: K438M
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000105737
Gene: ENSMUSG00000050954
AA Change: K438M
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
285 |
308 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
651 |
673 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
679 |
701 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
707 |
729 |
5.5e-3 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167682
|
|---|
| SMART Domains |
Protein: ENSMUSP00000127591
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176176
|
|---|
| SMART Domains |
Protein: ENSMUSP00000134793
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176949
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135695
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176996
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135520
Gene: ENSMUSG00000050954
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177474
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177530
AA Change: K438M
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135414
Gene: ENSMUSG00000050954
AA Change: K438M
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.74e-36 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
285 |
308 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
651 |
673 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
679 |
701 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
707 |
729 |
5.5e-3 |
SMART |
|
|---|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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| Validation Efficiency |
|
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| MGI Phenotype |
PHENOTYPE: Homozygous disruption of this locus does not result in an overt phenotype early in life. [provided by MGI curators]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
G |
T |
7: 46,136,194 |
T695N |
probably benign |
Het |
| Cdkl2 |
G |
A |
5: 92,020,309 |
T342I |
probably benign |
Het |
| Cntn5 |
C |
A |
9: 9,704,942 |
E822D |
probably damaging |
Het |
| Cysltr2 |
G |
A |
14: 73,029,893 |
H126Y |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 92,088,593 |
S428P |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,871,027 |
D314G |
probably benign |
Het |
| Ercc5 |
GAAAA |
GAAAAA |
1: 44,158,209 |
|
probably null |
Het |
| Gemin4 |
A |
G |
11: 76,212,091 |
F615L |
probably benign |
Het |
| Ggn |
A |
G |
7: 29,172,160 |
T322A |
probably benign |
Het |
| Hunk |
C |
T |
16: 90,432,791 |
A180V |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,989,810 |
D2525N |
possibly damaging |
Het |
| Myo1b |
A |
T |
1: 51,757,919 |
I988N |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,321,227 |
I380V |
probably benign |
Het |
| Olfr694 |
T |
A |
7: 106,689,146 |
Y195F |
possibly damaging |
Het |
| Plb1 |
G |
A |
5: 32,330,565 |
V930I |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,749,317 |
S538F |
probably damaging |
Het |
| Retreg1 |
T |
G |
15: 25,968,444 |
|
probably null |
Het |
| Rnf13 |
A |
C |
3: 57,820,589 |
K230T |
probably damaging |
Het |
| Rpl9-ps1 |
T |
C |
11: 83,645,381 |
I81V |
possibly damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,546,691 |
T267A |
possibly damaging |
Het |
| Spc25 |
A |
T |
2: 69,204,876 |
M47K |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,023,030 |
E4377G |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,435,998 |
T2142A |
probably damaging |
Het |
| Zc3h7a |
A |
G |
16: 11,150,593 |
|
probably null |
Het |
|
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| Other mutations in Zfp169 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01925:Zfp169
|
APN |
13 |
48490763 |
unclassified |
probably benign |
|
|
IGL03329:Zfp169
|
APN |
13 |
48490794 |
unclassified |
probably benign |
|
|
IGL03382:Zfp169
|
APN |
13 |
48491163 |
unclassified |
probably benign |
|
|
IGL03394:Zfp169
|
APN |
13 |
48489924 |
missense |
possibly damaging |
0.93 |
|
R0571:Zfp169
|
UTSW |
13 |
48489690 |
missense |
possibly damaging |
0.71 |
|
R1714:Zfp169
|
UTSW |
13 |
48498854 |
missense |
probably benign |
0.35 |
|
R1784:Zfp169
|
UTSW |
13 |
48489819 |
missense |
possibly damaging |
0.61 |
|
R3108:Zfp169
|
UTSW |
13 |
48489996 |
missense |
possibly damaging |
0.86 |
|
R3689:Zfp169
|
UTSW |
13 |
48506901 |
splice site |
probably benign |
|
|
R4665:Zfp169
|
UTSW |
13 |
48490863 |
unclassified |
probably benign |
|
|
R4719:Zfp169
|
UTSW |
13 |
48490158 |
missense |
probably benign |
0.06 |
|
R4745:Zfp169
|
UTSW |
13 |
48490232 |
missense |
possibly damaging |
0.71 |
|
R5288:Zfp169
|
UTSW |
13 |
48490275 |
missense |
possibly damaging |
0.61 |
|
R5384:Zfp169
|
UTSW |
13 |
48490275 |
missense |
possibly damaging |
0.61 |
|
R5979:Zfp169
|
UTSW |
13 |
48491040 |
unclassified |
probably benign |
|
|
R6053:Zfp169
|
UTSW |
13 |
48498858 |
missense |
probably damaging |
1.00 |
|
R6823:Zfp169
|
UTSW |
13 |
48490996 |
unclassified |
probably benign |
|
|
R7084:Zfp169
|
UTSW |
13 |
48498863 |
missense |
probably benign |
0.10 |
|
R7679:Zfp169
|
UTSW |
13 |
48498383 |
missense |
probably damaging |
0.99 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- CCGATGAGGTTGAACTTCTGGC -3'
(R):5'- GTGACAACCCCTTCATCTGC -3'
Sequencing Primer
(F):5'- GAGGTTGAACTTCTGGCTAAACCC -3'
(R):5'- GTGGCTTCAGGCTGCTCTC -3'
|
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| Posted On | 2015-07-21 |
|---|
