Incidental Mutation 'R5769:Zfp1005'
ID |
446416 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp1005
|
Ensembl Gene |
ENSMUSG00000079008 |
Gene Name |
zinc finger protein 1005 |
Synonyms |
Gm10749, EG640962, Gm14124 |
MMRRC Submission |
043369-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R5769 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
150099437-150112220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 150110198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 296
(E296G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109922]
|
AlphaFold |
A2AU83 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109922
AA Change: E296G
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105548 Gene: ENSMUSG00000079008 AA Change: E296G
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
9.26e-19 |
SMART |
ZnF_C2H2
|
103 |
125 |
7.49e-5 |
SMART |
ZnF_C2H2
|
131 |
151 |
9.46e0 |
SMART |
ZnF_C2H2
|
159 |
181 |
5.9e-3 |
SMART |
ZnF_C2H2
|
187 |
209 |
6.67e-2 |
SMART |
ZnF_C2H2
|
215 |
237 |
4.87e-4 |
SMART |
ZnF_C2H2
|
243 |
265 |
2.82e0 |
SMART |
ZnF_C2H2
|
271 |
293 |
2.2e2 |
SMART |
ZnF_C2H2
|
299 |
321 |
1.4e-4 |
SMART |
ZnF_C2H2
|
327 |
349 |
1.6e-4 |
SMART |
ZnF_C2H2
|
355 |
377 |
1.18e-2 |
SMART |
ZnF_C2H2
|
383 |
405 |
1.38e-3 |
SMART |
ZnF_C2H2
|
411 |
433 |
9.56e1 |
SMART |
ZnF_C2H2
|
439 |
461 |
6.99e-5 |
SMART |
ZnF_C2H2
|
467 |
489 |
2.99e-4 |
SMART |
ZnF_C2H2
|
495 |
517 |
7.78e-3 |
SMART |
ZnF_C2H2
|
523 |
545 |
1.04e-3 |
SMART |
ZnF_C2H2
|
551 |
573 |
1.6e-4 |
SMART |
ZnF_C2H2
|
579 |
601 |
1.18e-2 |
SMART |
ZnF_C2H2
|
607 |
629 |
4.54e-4 |
SMART |
ZnF_C2H2
|
635 |
657 |
4.24e-4 |
SMART |
ZnF_C2H2
|
663 |
685 |
1.2e-3 |
SMART |
ZnF_C2H2
|
691 |
713 |
8.47e-4 |
SMART |
|
Meta Mutation Damage Score |
0.2529 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
A |
5: 138,644,595 (GRCm39) |
V160E |
possibly damaging |
Het |
Abcb1a |
A |
C |
5: 8,733,426 (GRCm39) |
E106A |
probably benign |
Het |
Acap3 |
A |
T |
4: 155,986,857 (GRCm39) |
D371V |
probably damaging |
Het |
Ahi1 |
T |
C |
10: 20,835,981 (GRCm39) |
|
probably null |
Het |
Coq8a |
A |
G |
1: 180,006,681 (GRCm39) |
Y69H |
probably damaging |
Het |
Defb33 |
T |
A |
8: 21,387,543 (GRCm39) |
F27I |
possibly damaging |
Het |
Dhx29 |
T |
A |
13: 113,090,251 (GRCm39) |
L776Q |
probably damaging |
Het |
Dnah3 |
G |
A |
7: 119,689,175 (GRCm39) |
R80* |
probably null |
Het |
Dtna |
A |
T |
18: 23,784,611 (GRCm39) |
D646V |
probably benign |
Het |
Eml5 |
T |
A |
12: 98,756,878 (GRCm39) |
D1964V |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,238,271 (GRCm39) |
N575K |
probably damaging |
Het |
Fbxo38 |
G |
A |
18: 62,648,036 (GRCm39) |
P834L |
probably benign |
Het |
Fyb2 |
G |
T |
4: 104,870,518 (GRCm39) |
K706N |
probably damaging |
Het |
Fyb2 |
T |
A |
4: 104,872,841 (GRCm39) |
V738E |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,972,249 (GRCm39) |
T397A |
probably benign |
Het |
Gins1 |
A |
T |
2: 150,767,918 (GRCm39) |
E149D |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Grin2a |
C |
T |
16: 9,579,390 (GRCm39) |
R291K |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,007,819 (GRCm39) |
M646V |
probably benign |
Het |
Hes6 |
G |
T |
1: 91,340,671 (GRCm39) |
R38S |
probably damaging |
Het |
Hipk3 |
G |
A |
2: 104,265,298 (GRCm39) |
P667S |
possibly damaging |
Het |
Jrk |
T |
C |
15: 74,577,917 (GRCm39) |
Q456R |
probably benign |
Het |
Klf18 |
A |
C |
4: 117,586,162 (GRCm39) |
|
probably benign |
Het |
Loxl3 |
A |
G |
6: 83,027,581 (GRCm39) |
T708A |
probably damaging |
Het |
Lyg1 |
T |
C |
1: 37,989,831 (GRCm39) |
S19G |
unknown |
Het |
Magel2 |
T |
A |
7: 62,027,861 (GRCm39) |
M255K |
probably benign |
Het |
Mctp1 |
A |
G |
13: 76,907,927 (GRCm39) |
D242G |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,236,829 (GRCm39) |
N109K |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,952,825 (GRCm39) |
F95L |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,379,995 (GRCm39) |
L1569P |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,220,747 (GRCm39) |
E940G |
probably benign |
Het |
Oas1d |
T |
C |
5: 121,054,917 (GRCm39) |
F163S |
probably benign |
Het |
Odf2l |
A |
G |
3: 144,841,492 (GRCm39) |
K304R |
possibly damaging |
Het |
Otud3 |
T |
A |
4: 138,625,421 (GRCm39) |
N211I |
possibly damaging |
Het |
Pabpc6 |
A |
T |
17: 9,886,772 (GRCm39) |
L593* |
probably null |
Het |
Pdcd11 |
T |
A |
19: 47,091,076 (GRCm39) |
L350Q |
possibly damaging |
Het |
Pdia4 |
A |
G |
6: 47,792,446 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
G |
A |
9: 98,975,212 (GRCm39) |
Q223* |
probably null |
Het |
Plb1 |
G |
A |
5: 32,474,866 (GRCm39) |
V696M |
probably benign |
Het |
Ppp2r5a |
T |
C |
1: 191,104,863 (GRCm39) |
D61G |
probably benign |
Het |
Preb |
G |
T |
5: 31,115,635 (GRCm39) |
Y87* |
probably null |
Het |
Rdh16f2 |
A |
T |
10: 127,712,758 (GRCm39) |
N252I |
probably benign |
Het |
Rida |
T |
C |
15: 34,484,704 (GRCm39) |
|
probably benign |
Het |
Rxrb |
T |
C |
17: 34,251,821 (GRCm39) |
|
probably benign |
Het |
Sis |
T |
A |
3: 72,835,568 (GRCm39) |
K931N |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,158,994 (GRCm39) |
|
probably benign |
Het |
Srp68 |
A |
G |
11: 116,137,495 (GRCm39) |
S525P |
probably damaging |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Synj1 |
A |
G |
16: 90,735,141 (GRCm39) |
|
probably benign |
Het |
Syt12 |
T |
C |
19: 4,501,072 (GRCm39) |
Y326C |
probably damaging |
Het |
Tesk2 |
A |
G |
4: 116,659,512 (GRCm39) |
|
probably null |
Het |
Tmem41b |
G |
A |
7: 109,577,945 (GRCm39) |
T113I |
possibly damaging |
Het |
Tmtc2 |
T |
C |
10: 105,205,907 (GRCm39) |
I463V |
probably benign |
Het |
Trak1 |
A |
T |
9: 121,277,904 (GRCm39) |
D320V |
probably damaging |
Het |
Ushbp1 |
A |
T |
8: 71,838,863 (GRCm39) |
N570K |
probably benign |
Het |
Vmn1r33 |
T |
A |
6: 66,588,817 (GRCm39) |
I246F |
possibly damaging |
Het |
Vmn2r54 |
A |
C |
7: 12,349,209 (GRCm39) |
L791R |
possibly damaging |
Het |
Washc1 |
A |
T |
17: 66,425,111 (GRCm39) |
T372S |
probably benign |
Het |
|
Other mutations in Zfp1005 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01550:Zfp1005
|
APN |
2 |
150,108,363 (GRCm39) |
splice site |
probably benign |
|
R0220:Zfp1005
|
UTSW |
2 |
150,110,595 (GRCm39) |
missense |
unknown |
|
R0396:Zfp1005
|
UTSW |
2 |
150,109,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R0402:Zfp1005
|
UTSW |
2 |
150,111,136 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0446:Zfp1005
|
UTSW |
2 |
150,109,993 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0462:Zfp1005
|
UTSW |
2 |
150,111,122 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0507:Zfp1005
|
UTSW |
2 |
150,110,044 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0605:Zfp1005
|
UTSW |
2 |
150,110,523 (GRCm39) |
missense |
unknown |
|
R0838:Zfp1005
|
UTSW |
2 |
150,111,220 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1327:Zfp1005
|
UTSW |
2 |
150,108,070 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1405:Zfp1005
|
UTSW |
2 |
150,109,620 (GRCm39) |
nonsense |
probably null |
|
R1405:Zfp1005
|
UTSW |
2 |
150,109,620 (GRCm39) |
nonsense |
probably null |
|
R2114:Zfp1005
|
UTSW |
2 |
150,109,819 (GRCm39) |
missense |
unknown |
|
R2140:Zfp1005
|
UTSW |
2 |
150,111,281 (GRCm39) |
missense |
probably benign |
0.33 |
R3683:Zfp1005
|
UTSW |
2 |
150,109,976 (GRCm39) |
missense |
probably benign |
0.41 |
R3917:Zfp1005
|
UTSW |
2 |
150,108,039 (GRCm39) |
splice site |
probably benign |
|
R4084:Zfp1005
|
UTSW |
2 |
150,108,122 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4499:Zfp1005
|
UTSW |
2 |
150,111,362 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4683:Zfp1005
|
UTSW |
2 |
150,108,390 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4762:Zfp1005
|
UTSW |
2 |
150,109,549 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4937:Zfp1005
|
UTSW |
2 |
150,110,680 (GRCm39) |
missense |
unknown |
|
R5678:Zfp1005
|
UTSW |
2 |
150,110,425 (GRCm39) |
nonsense |
probably null |
|
R5696:Zfp1005
|
UTSW |
2 |
150,111,394 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5697:Zfp1005
|
UTSW |
2 |
150,111,394 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5698:Zfp1005
|
UTSW |
2 |
150,111,394 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5780:Zfp1005
|
UTSW |
2 |
150,108,139 (GRCm39) |
missense |
probably benign |
0.05 |
R5973:Zfp1005
|
UTSW |
2 |
150,109,855 (GRCm39) |
missense |
unknown |
|
R6662:Zfp1005
|
UTSW |
2 |
150,108,172 (GRCm39) |
critical splice donor site |
probably null |
|
R6878:Zfp1005
|
UTSW |
2 |
150,108,406 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7037:Zfp1005
|
UTSW |
2 |
150,108,376 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7081:Zfp1005
|
UTSW |
2 |
150,110,189 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7413:Zfp1005
|
UTSW |
2 |
150,108,081 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7725:Zfp1005
|
UTSW |
2 |
150,110,468 (GRCm39) |
missense |
unknown |
|
R7781:Zfp1005
|
UTSW |
2 |
150,109,577 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8197:Zfp1005
|
UTSW |
2 |
150,109,577 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8355:Zfp1005
|
UTSW |
2 |
150,109,876 (GRCm39) |
missense |
unknown |
|
R8517:Zfp1005
|
UTSW |
2 |
150,110,043 (GRCm39) |
missense |
probably benign |
0.33 |
R8812:Zfp1005
|
UTSW |
2 |
150,109,624 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9108:Zfp1005
|
UTSW |
2 |
150,109,969 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9488:Zfp1005
|
UTSW |
2 |
150,110,477 (GRCm39) |
missense |
unknown |
|
R9499:Zfp1005
|
UTSW |
2 |
150,109,856 (GRCm39) |
missense |
unknown |
|
R9551:Zfp1005
|
UTSW |
2 |
150,109,856 (GRCm39) |
missense |
unknown |
|
R9567:Zfp1005
|
UTSW |
2 |
150,109,517 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9646:Zfp1005
|
UTSW |
2 |
150,110,104 (GRCm39) |
missense |
probably benign |
0.43 |
R9709:Zfp1005
|
UTSW |
2 |
150,110,305 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9719:Zfp1005
|
UTSW |
2 |
150,111,304 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9779:Zfp1005
|
UTSW |
2 |
150,108,064 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0022:Zfp1005
|
UTSW |
2 |
150,109,578 (GRCm39) |
missense |
possibly damaging |
0.53 |
Z1177:Zfp1005
|
UTSW |
2 |
150,110,244 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Zfp1005
|
UTSW |
2 |
150,110,237 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGGTCTCCGAGGACATAAAAGA -3'
(R):5'- CGGAGAACAGTTGAACATGCA -3'
Sequencing Primer
(F):5'- CAGGTCAAAGTGGTCTCCTGTATC -3'
(R):5'- CAGTTGAACATGCAAAGGCTTTACC -3'
|
Posted On |
2016-11-21 |