Incidental Mutation 'R3880:Zfp345'
| ID |
312772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp345
|
| Ensembl Gene |
ENSMUSG00000074731 |
| Gene Name |
zinc finger protein 345 |
| Synonyms |
OTTMUSG00000015743 |
| MMRRC Submission |
040794-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R3880 (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 150314075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 487
(I487M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109914]
|
| AlphaFold |
A2AQA1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109914
AA Change: I487M
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105540
Gene: ENSMUSG00000074731
AA Change: I487M
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
92% (35/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,584,959 (GRCm39) |
W872R |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,086,046 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,583,824 (GRCm39) |
Q4627L |
probably benign |
Het |
| Armc2 |
T |
C |
10: 41,839,721 (GRCm39) |
I415V |
possibly damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,261,948 (GRCm39) |
M107V |
probably benign |
Het |
| Ccdc43 |
T |
C |
11: 102,583,029 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
A |
C |
19: 12,463,820 (GRCm39) |
S321A |
probably benign |
Het |
| Enox1 |
A |
T |
14: 77,848,826 (GRCm39) |
H379L |
possibly damaging |
Het |
| Evx1 |
A |
T |
6: 52,290,846 (GRCm39) |
D6V |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,926,133 (GRCm39) |
V286E |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,598,645 (GRCm39) |
V234A |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,010,872 (GRCm39) |
S241P |
possibly damaging |
Het |
| Lipc |
T |
A |
9: 70,727,800 (GRCm39) |
I16F |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,064,437 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
T |
G |
18: 32,102,567 (GRCm39) |
E1487A |
probably damaging |
Het |
| Or52a33 |
T |
G |
7: 103,288,831 (GRCm39) |
K172T |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,168,191 (GRCm39) |
H6R |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,445 (GRCm39) |
T1718I |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,663,565 (GRCm39) |
E1002G |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,983 (GRCm39) |
N241S |
unknown |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,716,846 (GRCm39) |
N337K |
probably damaging |
Het |
| Snx19 |
A |
T |
9: 30,373,688 (GRCm39) |
Q917L |
probably damaging |
Het |
| Srsf3 |
T |
C |
17: 29,255,257 (GRCm39) |
V14A |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,471,874 (GRCm39) |
V4729I |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,172,038 (GRCm39) |
I82N |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,325,807 (GRCm39) |
M407K |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,523,107 (GRCm39) |
G47D |
probably damaging |
Het |
| Tradd |
A |
T |
8: 105,987,287 (GRCm39) |
N6K |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,396 (GRCm39) |
C460F |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,066,597 (GRCm39) |
Y318C |
probably damaging |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,215,885 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,857,226 (GRCm39) |
C101S |
possibly 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 |
|
R3051:Zfp345
|
UTSW |
2 |
150,316,772 (GRCm39) |
missense |
probably benign |
0.07 |
|
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'- ACTGAATACACTCATAGGGTTTCTC -3'
(R):5'- GAGTTCATACAGGAGAGAAACCTTATG -3'
Sequencing Primer
(F):5'- ATGTGTTCTAATATGCACTTGGAG -3'
(R):5'- ACAATGTGGTAAAGCCTTTGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation