Incidental Mutation 'R5698:Zfp1005'
| ID |
450770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp1005
|
| Ensembl Gene |
ENSMUSG00000079008 |
| Gene Name |
zinc finger protein 1005 |
| Synonyms |
Gm10749, EG640962, Gm14124 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
150099437-150112220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 150111394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 695
(H695Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109922]
|
| AlphaFold |
A2AU83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109922
AA Change: H695Y
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008
AA Change: H695Y
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
G |
11: 3,926,366 (GRCm39) |
K334E |
possibly damaging |
Het |
| Ache |
G |
A |
5: 137,288,821 (GRCm39) |
V176M |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,784,605 (GRCm39) |
D539G |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,803,831 (GRCm39) |
|
probably benign |
Het |
| Amigo2 |
G |
A |
15: 97,143,607 (GRCm39) |
Q272* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,256 (GRCm39) |
T394A |
possibly damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,925 (GRCm39) |
H171Q |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,489,499 (GRCm39) |
D277G |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,417,873 (GRCm39) |
V95A |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
A |
T |
5: 67,924,496 (GRCm39) |
N289K |
probably benign |
Het |
| Cand2 |
C |
T |
6: 115,768,704 (GRCm39) |
L505F |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,730,965 (GRCm39) |
K614R |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,272,632 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,946,511 (GRCm39) |
L976* |
probably null |
Het |
| Ddx39b |
T |
C |
17: 35,470,287 (GRCm39) |
V267A |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,164,655 (GRCm39) |
Q709L |
probably damaging |
Het |
| Eno4 |
A |
G |
19: 58,956,904 (GRCm39) |
|
probably null |
Het |
| Exoc3 |
A |
G |
13: 74,322,134 (GRCm39) |
L647P |
probably benign |
Het |
| Eya4 |
T |
C |
10: 23,015,975 (GRCm39) |
S308G |
possibly damaging |
Het |
| Fbxo41 |
T |
C |
6: 85,454,638 (GRCm39) |
T693A |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,791,447 (GRCm39) |
T903A |
possibly damaging |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,926 (GRCm39) |
I1527T |
possibly damaging |
Het |
| H13 |
T |
A |
2: 152,530,875 (GRCm39) |
I220N |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,531,312 (GRCm39) |
R468G |
probably damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,324,538 (GRCm39) |
S243P |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,455 (GRCm39) |
H587R |
probably benign |
Het |
| Kcnk1 |
C |
T |
8: 126,752,144 (GRCm39) |
T250M |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,339,532 (GRCm39) |
V458A |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,096,451 (GRCm39) |
T208A |
probably benign |
Het |
| Mybpc3 |
C |
A |
2: 90,955,194 (GRCm39) |
H349Q |
possibly damaging |
Het |
| Neurl3 |
T |
A |
1: 36,305,587 (GRCm39) |
T207S |
possibly damaging |
Het |
| Nol9 |
T |
C |
4: 152,135,031 (GRCm39) |
V388A |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,376,961 (GRCm39) |
N315D |
probably damaging |
Het |
| Oas1h |
G |
T |
5: 121,009,045 (GRCm39) |
A252S |
probably damaging |
Het |
| Or13c7b |
C |
A |
4: 43,821,183 (GRCm39) |
M59I |
probably damaging |
Het |
| Pcbp1 |
G |
A |
6: 86,502,134 (GRCm39) |
T255M |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,083,808 (GRCm39) |
V18A |
probably benign |
Het |
| Ppp1r17 |
A |
T |
6: 56,003,529 (GRCm39) |
E114V |
probably damaging |
Het |
| Scamp5 |
A |
T |
9: 57,352,716 (GRCm39) |
M151K |
possibly damaging |
Het |
| Sestd1 |
T |
C |
2: 77,048,512 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Slc22a21 |
T |
G |
11: 53,842,175 (GRCm39) |
K534N |
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,112,917 (GRCm39) |
E448G |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,996,566 (GRCm39) |
L280P |
probably damaging |
Het |
| Sppl2b |
C |
A |
10: 80,701,879 (GRCm39) |
|
probably null |
Het |
| Srd5a2 |
T |
C |
17: 74,334,014 (GRCm39) |
E135G |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,521,467 (GRCm39) |
M183K |
probably damaging |
Het |
| Ticrr |
G |
A |
7: 79,328,881 (GRCm39) |
M673I |
probably benign |
Het |
| Tm4sf20 |
T |
G |
1: 82,745,958 (GRCm39) |
M61L |
probably benign |
Het |
| Ttll8 |
A |
T |
15: 88,823,209 (GRCm39) |
S85T |
possibly damaging |
Het |
| Uggt2 |
G |
A |
14: 119,280,138 (GRCm39) |
S780F |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,324,302 (GRCm39) |
L442P |
probably damaging |
Het |
| Znrf3 |
A |
G |
11: 5,239,006 (GRCm39) |
|
probably benign |
Het |
| Zswim2 |
C |
A |
2: 83,755,527 (GRCm39) |
D125Y |
possibly damaging |
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 |
|
R5769:Zfp1005
|
UTSW |
2 |
150,110,198 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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'- AGCCTTTTCGTCTCCAAGTG -3'
(R):5'- CACTCACAGACTTTCTCTACAGTATG -3'
Sequencing Primer
(F):5'- CCAAGTGGATTCCTGTATCATAAACG -3'
(R):5'- ACCCTCATAGGGTTTCTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation