Incidental Mutation 'R8197:Zfp1005'
| ID |
635480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp1005
|
| Ensembl Gene |
ENSMUSG00000079008 |
| Gene Name |
zinc finger protein 1005 |
| Synonyms |
Gm10749, EG640962, Gm14124 |
| MMRRC Submission |
067620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R8197 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150099437-150112220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150109577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 89
(H89L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109922]
|
| AlphaFold |
A2AU83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109922
AA Change: H89L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008
AA Change: H89L
| 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: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,780,628 (GRCm39) |
D836E |
probably benign |
Het |
| Abca6 |
A |
C |
11: 110,102,641 (GRCm39) |
L861R |
probably damaging |
Het |
| Adamts18 |
G |
T |
8: 114,481,227 (GRCm39) |
A560E |
probably damaging |
Het |
| Adra2b |
A |
T |
2: 127,206,578 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Anxa3 |
A |
G |
5: 96,982,651 (GRCm39) |
T250A |
probably benign |
Het |
| B4galt5 |
T |
A |
2: 167,144,023 (GRCm39) |
N309I |
probably benign |
Het |
| Bub1 |
G |
T |
2: 127,643,177 (GRCm39) |
R1056S |
probably damaging |
Het |
| Ccdc185 |
G |
T |
1: 182,576,324 (GRCm39) |
P122T |
possibly damaging |
Het |
| Cdk5rap3 |
A |
G |
11: 96,806,975 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
A |
8: 113,296,857 (GRCm39) |
Y31N |
probably benign |
Het |
| Crygc |
T |
C |
1: 65,112,365 (GRCm39) |
M70V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,517,666 (GRCm39) |
E2000G |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,203,171 (GRCm39) |
N266S |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,249,088 (GRCm39) |
D304E |
probably benign |
Het |
| Fabp9 |
T |
G |
3: 10,259,887 (GRCm39) |
K42T |
probably benign |
Het |
| Fhl4 |
T |
A |
10: 84,934,101 (GRCm39) |
I227F |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,926,921 (GRCm39) |
|
probably null |
Het |
| Gsdmd |
T |
C |
15: 75,736,186 (GRCm39) |
I105T |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,092,348 (GRCm39) |
D317G |
possibly damaging |
Het |
| Hrh4 |
A |
G |
18: 13,154,986 (GRCm39) |
Y175C |
probably damaging |
Het |
| Igfals |
A |
G |
17: 25,099,278 (GRCm39) |
N123S |
probably benign |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,841 (GRCm39) |
V2A |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,389,971 (GRCm39) |
L500P |
unknown |
Het |
| Itgae |
G |
A |
11: 73,011,210 (GRCm39) |
R660Q |
probably benign |
Het |
| Kcnip2 |
T |
C |
19: 45,782,730 (GRCm39) |
I204V |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,493,447 (GRCm39) |
E471G |
probably damaging |
Het |
| Lrrtm3 |
T |
A |
10: 63,924,295 (GRCm39) |
T291S |
possibly damaging |
Het |
| Mast1 |
T |
A |
8: 85,639,450 (GRCm39) |
H1293L |
possibly damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,607 (GRCm39) |
E257G |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,743,607 (GRCm39) |
Y223H |
probably damaging |
Het |
| Nab1 |
G |
A |
1: 52,529,127 (GRCm39) |
R257* |
probably null |
Het |
| Ncapd3 |
C |
A |
9: 26,997,329 (GRCm39) |
L1217I |
probably damaging |
Het |
| Or5h18 |
T |
A |
16: 58,847,448 (GRCm39) |
D274V |
probably benign |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pde4d |
T |
A |
13: 110,084,870 (GRCm39) |
I489N |
probably damaging |
Het |
| Pdyn |
C |
T |
2: 129,530,277 (GRCm39) |
G131R |
probably benign |
Het |
| Qrich2 |
CACCTGCTTGCAACACACCAGGCTGAACTGGACCT |
CACCT |
11: 116,347,861 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
T |
C |
4: 133,592,673 (GRCm39) |
K276E |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,407,684 (GRCm39) |
N752I |
possibly damaging |
Het |
| Scyl2 |
T |
C |
10: 89,498,228 (GRCm39) |
I194V |
probably benign |
Het |
| Sec31b |
T |
G |
19: 44,512,955 (GRCm39) |
R511S |
probably benign |
Het |
| Serpinb6d |
T |
C |
13: 33,851,588 (GRCm39) |
F115S |
probably damaging |
Het |
| Skint6 |
T |
G |
4: 112,752,040 (GRCm39) |
|
probably null |
Het |
| Supt16 |
G |
A |
14: 52,411,542 (GRCm39) |
P614S |
possibly damaging |
Het |
| Tmem114 |
T |
C |
16: 8,227,516 (GRCm39) |
I182M |
probably damaging |
Het |
| Vmn1r125 |
G |
A |
7: 21,006,851 (GRCm39) |
V250I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp959 |
A |
T |
17: 56,204,677 (GRCm39) |
D238V |
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 |
|
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 |
|
|
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 |
|
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'- AAACCACCCATAATGAAGGGG -3'
(R):5'- CTTTTATGATACAGGAGACCACTTTG -3'
Sequencing Primer
(F):5'- CCCATAATGAAGGGGAACTCCATG -3'
(R):5'- TATGTCCTCGGAGACCAGTTGAAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation