Incidental Mutation 'R3051:Zfp345'
| ID |
264940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp345
|
| Ensembl Gene |
ENSMUSG00000074731 |
| Gene Name |
zinc finger protein 345 |
| Synonyms |
OTTMUSG00000015743 |
| MMRRC Submission |
040560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R3051 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150312911-150326983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150316772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 12
(N12D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109914]
|
| AlphaFold |
A2AQA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109914
AA Change: N12D
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105540
Gene: ENSMUSG00000074731
AA Change: N12D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
9.5e-20 |
SMART |
|
ZnF_C2H2
|
103 |
125 |
2e-2 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
2.9e-6 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
4.1e-3 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
2.6e-7 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
1.6e-5 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
4e-7 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
1.1e-5 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
5.9e-7 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
4.4e-7 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
7.3e-6 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
2.7e-5 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
1.3e-5 |
SMART |
|
ZnF_C2H2
|
505 |
527 |
5.1e-6 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
9.2e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117906
|
| Meta Mutation Damage Score |
0.1198 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,933,816 (GRCm39) |
L436P |
probably damaging |
Het |
| Axin1 |
A |
G |
17: 26,409,099 (GRCm39) |
T700A |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,268,188 (GRCm39) |
M100L |
probably benign |
Het |
| Ceacam20 |
T |
A |
7: 19,710,110 (GRCm39) |
V378E |
probably benign |
Het |
| Cwf19l2 |
G |
A |
9: 3,410,006 (GRCm39) |
R45H |
probably benign |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Ddr2 |
T |
C |
1: 169,816,024 (GRCm39) |
K561R |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ltf |
A |
G |
9: 110,853,590 (GRCm39) |
D280G |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,203,343 (GRCm39) |
E481G |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,060 (GRCm39) |
T99A |
probably benign |
Het |
| Pald1 |
G |
A |
10: 61,182,542 (GRCm39) |
Q412* |
probably null |
Het |
| Ppp4r3c2 |
G |
A |
X: 88,797,709 (GRCm39) |
V514I |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,018,867 (GRCm39) |
Y649H |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rbfox3 |
G |
T |
11: 118,393,714 (GRCm39) |
A37D |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,502,437 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc6a7 |
G |
A |
18: 61,142,589 (GRCm39) |
T41M |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,556 (GRCm39) |
F70S |
possibly damaging |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tktl1 |
A |
G |
X: 73,221,010 (GRCm39) |
T39A |
probably benign |
Het |
| Tmem51 |
A |
T |
4: 141,759,335 (GRCm39) |
Y138N |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,918,849 (GRCm39) |
E730K |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
|
| Other mutations in Zfp345 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00833:Zfp345
|
APN |
2 |
150,314,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00846:Zfp345
|
APN |
2 |
150,314,538 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01020:Zfp345
|
APN |
2 |
150,314,967 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01931:Zfp345
|
APN |
2 |
150,315,270 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02237:Zfp345
|
APN |
2 |
150,316,805 (GRCm39) |
splice site |
probably benign |
|
|
IGL02335:Zfp345
|
APN |
2 |
150,316,463 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02592:Zfp345
|
APN |
2 |
150,315,229 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02736:Zfp345
|
APN |
2 |
150,316,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0095:Zfp345
|
UTSW |
2 |
150,314,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Zfp345
|
UTSW |
2 |
150,314,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Zfp345
|
UTSW |
2 |
150,314,475 (GRCm39) |
missense |
probably benign |
|
|
R0371:Zfp345
|
UTSW |
2 |
150,313,983 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0412:Zfp345
|
UTSW |
2 |
150,315,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0415:Zfp345
|
UTSW |
2 |
150,316,479 (GRCm39) |
splice site |
probably benign |
|
|
R0420:Zfp345
|
UTSW |
2 |
150,315,163 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0697:Zfp345
|
UTSW |
2 |
150,314,829 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0799:Zfp345
|
UTSW |
2 |
150,314,271 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1881:Zfp345
|
UTSW |
2 |
150,314,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Zfp345
|
UTSW |
2 |
150,316,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Zfp345
|
UTSW |
2 |
150,314,038 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2152:Zfp345
|
UTSW |
2 |
150,314,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2153:Zfp345
|
UTSW |
2 |
150,314,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3880:Zfp345
|
UTSW |
2 |
150,314,075 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3939:Zfp345
|
UTSW |
2 |
150,314,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Zfp345
|
UTSW |
2 |
150,315,228 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4802:Zfp345
|
UTSW |
2 |
150,315,228 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4897:Zfp345
|
UTSW |
2 |
150,314,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5606:Zfp345
|
UTSW |
2 |
150,316,788 (GRCm39) |
nonsense |
probably null |
|
|
R6009:Zfp345
|
UTSW |
2 |
150,314,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Zfp345
|
UTSW |
2 |
150,315,010 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6194:Zfp345
|
UTSW |
2 |
150,314,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6782:Zfp345
|
UTSW |
2 |
150,315,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6932:Zfp345
|
UTSW |
2 |
150,315,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7356:Zfp345
|
UTSW |
2 |
150,314,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Zfp345
|
UTSW |
2 |
150,314,723 (GRCm39) |
nonsense |
probably null |
|
|
R8387:Zfp345
|
UTSW |
2 |
150,314,740 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8515:Zfp345
|
UTSW |
2 |
150,314,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8940:Zfp345
|
UTSW |
2 |
150,314,277 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9038:Zfp345
|
UTSW |
2 |
150,313,864 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9383:Zfp345
|
UTSW |
2 |
150,314,503 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9480:Zfp345
|
UTSW |
2 |
150,315,212 (GRCm39) |
nonsense |
probably null |
|
|
R9723:Zfp345
|
UTSW |
2 |
150,314,189 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATTAATTCACCTCATTCTTCCGCA -3'
(R):5'- GTTGGGATTCAAGGCACAAGTAA -3'
Sequencing Primer
(F):5'- TTCCGCATTCTCAACGGAAATTAC -3'
(R):5'- TCCTCTTCAAGGGGTGTAGAAATGAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation