Incidental Mutation 'R6878:Zfp1005'
| ID |
536499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp1005
|
| Ensembl Gene |
ENSMUSG00000079008 |
| Gene Name |
zinc finger protein 1005 |
| Synonyms |
Gm10749, EG640962, Gm14124 |
| MMRRC Submission |
044974-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6878 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150099437-150112220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 150108406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 56
(L56F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109922]
|
| AlphaFold |
A2AU83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109922
AA Change: L56F
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008
AA Change: L56F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,581,613 (GRCm39) |
N4810K |
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,360,465 (GRCm39) |
I397F |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
| Asl |
A |
G |
5: 130,053,133 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
A |
19: 6,300,208 (GRCm39) |
L672Q |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,809,694 (GRCm39) |
D316G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,717,832 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,070,519 (GRCm39) |
I18V |
probably benign |
Het |
| Cd47 |
A |
G |
16: 49,731,232 (GRCm39) |
E278G |
possibly damaging |
Het |
| Cilp |
G |
A |
9: 65,187,129 (GRCm39) |
G1075S |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,934,537 (GRCm39) |
V604A |
probably benign |
Het |
| Fancm |
A |
T |
12: 65,163,197 (GRCm39) |
R1454* |
probably null |
Het |
| Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
GCA |
GCACCA |
10: 100,177,377 (GRCm39) |
|
probably benign |
Het |
| Gm4302 |
CAG |
CAGAAG |
10: 100,177,369 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
T |
C |
12: 73,975,055 (GRCm39) |
M147T |
possibly damaging |
Het |
| Hps5 |
C |
G |
7: 46,433,058 (GRCm39) |
A221P |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,587,431 (GRCm39) |
S67P |
probably damaging |
Het |
| Madd |
T |
A |
2: 91,000,202 (GRCm39) |
N568I |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,302,712 (GRCm39) |
S375P |
possibly damaging |
Het |
| Mfsd6 |
G |
T |
1: 52,747,912 (GRCm39) |
Q318K |
probably damaging |
Het |
| Mis18a |
A |
T |
16: 90,518,644 (GRCm39) |
I106N |
probably damaging |
Het |
| Myl2 |
T |
C |
5: 122,243,140 (GRCm39) |
I148T |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,193,842 (GRCm39) |
Q730R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,325,708 (GRCm39) |
L560P |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,467,899 (GRCm39) |
T285A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 77,954,120 (GRCm39) |
D547V |
probably benign |
Het |
| Obox2 |
G |
T |
7: 15,131,245 (GRCm39) |
S117I |
probably benign |
Het |
| Or8k32 |
A |
G |
2: 86,369,109 (GRCm39) |
L48P |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,175,656 (GRCm39) |
N226K |
possibly damaging |
Het |
| Pcdha3 |
T |
A |
18: 37,080,416 (GRCm39) |
L386* |
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,142,417 (GRCm39) |
F1323S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,594,936 (GRCm39) |
V2771A |
probably benign |
Het |
| Prl7c1 |
T |
C |
13: 27,962,827 (GRCm39) |
T59A |
possibly damaging |
Het |
| Rab15 |
T |
C |
12: 76,851,257 (GRCm39) |
T20A |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,301 (GRCm39) |
E1629G |
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,608,657 (GRCm39) |
L235Q |
probably damaging |
Het |
| Sema3a |
A |
T |
5: 13,505,511 (GRCm39) |
I91F |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,810,386 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Speer4f2 |
T |
G |
5: 17,580,765 (GRCm39) |
M114R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,370,388 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tbl1xr1 |
T |
G |
3: 22,257,368 (GRCm39) |
N410K |
possibly damaging |
Het |
| Tmed7 |
A |
T |
18: 46,726,532 (GRCm39) |
D74E |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,068,001 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r29 |
A |
G |
7: 7,244,863 (GRCm39) |
V337A |
probably benign |
Het |
| Yy1 |
C |
G |
12: 108,780,682 (GRCm39) |
P352A |
probably damaging |
Het |
| Zfp873 |
T |
C |
10: 81,896,529 (GRCm39) |
I457T |
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 |
|
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 |
|
|
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'- AGGGTAGAGTGACCTATGATGATGT -3'
(R):5'- CTGGCAATTCTTCAGCATAGC -3'
Sequencing Primer
(F):5'- CTACAGGAATCTCGCTGCTATAGG -3'
(R):5'- GGCAATTCTTCAGCATAGCCCTATTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation