Incidental Mutation 'R3683:Zfp1005'
| ID |
269414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp1005
|
| Ensembl Gene |
ENSMUSG00000079008 |
| Gene Name |
zinc finger protein 1005 |
| Synonyms |
Gm10749, EG640962, Gm14124 |
| MMRRC Submission |
040681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R3683 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
150099437-150112220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150109976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 222
(K222R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109922]
|
| AlphaFold |
A2AU83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109922
AA Change: K222R
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008
AA Change: K222R
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
T |
C |
X: 80,463,841 (GRCm39) |
D622G |
possibly damaging |
Het |
| Acad11 |
T |
C |
9: 103,992,543 (GRCm39) |
I495T |
probably damaging |
Het |
| Acat1 |
C |
T |
9: 53,498,765 (GRCm39) |
A307T |
probably damaging |
Het |
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Bmp2 |
T |
A |
2: 133,396,392 (GRCm39) |
V16D |
probably benign |
Het |
| Cables2 |
G |
A |
2: 179,906,263 (GRCm39) |
R121* |
probably null |
Het |
| Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
| Csrnp2 |
A |
T |
15: 100,379,879 (GRCm39) |
S471T |
probably benign |
Het |
| Dnah7a |
C |
A |
1: 53,483,675 (GRCm39) |
M3367I |
probably benign |
Het |
| Elp4 |
A |
T |
2: 105,533,106 (GRCm39) |
M413K |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,470,975 (GRCm39) |
D1593G |
probably benign |
Het |
| Fbxw24 |
G |
A |
9: 109,437,110 (GRCm39) |
P259L |
possibly damaging |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,260 (GRCm39) |
N2S |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,075,328 (GRCm39) |
D1015G |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,930,880 (GRCm39) |
D779G |
probably damaging |
Het |
| Or2d3c |
G |
A |
7: 106,526,301 (GRCm39) |
R122* |
probably null |
Het |
| Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
| Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
| Osmr |
A |
C |
15: 6,866,534 (GRCm39) |
V380G |
possibly damaging |
Het |
| Phf21b |
A |
G |
15: 84,682,891 (GRCm39) |
I222T |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,544,489 (GRCm39) |
T347K |
probably benign |
Het |
| Sema6d |
G |
T |
2: 124,496,146 (GRCm39) |
L63F |
possibly damaging |
Het |
| Serpinb9b |
C |
T |
13: 33,213,581 (GRCm39) |
A46V |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,540,253 (GRCm39) |
|
probably null |
Het |
| Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
| Stat4 |
C |
T |
1: 52,052,981 (GRCm39) |
T54I |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
| Tbc1d20 |
C |
T |
2: 152,153,737 (GRCm39) |
T354I |
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,815,210 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,542,579 (GRCm39) |
M1802T |
probably benign |
Het |
| Vmn1r8 |
A |
C |
6: 57,013,260 (GRCm39) |
T104P |
probably damaging |
Het |
| Vmn2r13 |
C |
A |
5: 109,304,721 (GRCm39) |
R570I |
probably damaging |
Het |
| Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
probably damaging |
Het |
| Zmpste24 |
A |
G |
4: 120,918,288 (GRCm39) |
F445L |
probably 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 |
|
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 |
|
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'- TTGCAAGTCCCAGTTATCTTCA -3'
(R):5'- TGGGTCTTGCAAAGTCTTTACCA -3'
Sequencing Primer
(F):5'- TCAGTACCATAAGAGAGTTCGTACAG -3'
(R):5'- AGGAGATGACTCTTTCTTGCAAAGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation