Incidental Mutation 'R3939:Zfp345'
ID |
308585 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp345
|
Ensembl Gene |
ENSMUSG00000074731 |
Gene Name |
zinc finger protein 345 |
Synonyms |
OTTMUSG00000015743 |
MMRRC Submission |
040826-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R3939 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
150312911-150326983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 150314473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 355
(H355Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109914]
|
AlphaFold |
A2AQA1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109914
AA Change: H355Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105540 Gene: ENSMUSG00000074731 AA Change: H355Y
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
Cacnb4 |
C |
A |
2: 52,359,501 (GRCm39) |
R169L |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,698,861 (GRCm39) |
I491V |
unknown |
Het |
Corin |
T |
C |
5: 72,497,222 (GRCm39) |
D531G |
possibly damaging |
Het |
Cx3cr1 |
C |
T |
9: 119,880,710 (GRCm39) |
V231I |
probably benign |
Het |
Dennd4c |
T |
G |
4: 86,692,517 (GRCm39) |
V9G |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Faf1 |
T |
G |
4: 109,719,076 (GRCm39) |
L394R |
probably damaging |
Het |
Fgfr4 |
G |
A |
13: 55,304,307 (GRCm39) |
D116N |
probably null |
Het |
Flt3 |
A |
G |
5: 147,293,053 (GRCm39) |
Y518H |
possibly damaging |
Het |
Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
Gk2 |
T |
A |
5: 97,603,211 (GRCm39) |
L542F |
possibly damaging |
Het |
Gm4922 |
T |
A |
10: 18,660,362 (GRCm39) |
E120V |
probably damaging |
Het |
Hip1 |
A |
T |
5: 135,457,618 (GRCm39) |
I285N |
probably benign |
Het |
Kcnd2 |
C |
A |
6: 21,217,095 (GRCm39) |
D266E |
probably damaging |
Het |
Kdr |
C |
T |
5: 76,133,089 (GRCm39) |
W63* |
probably null |
Het |
Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
Megf8 |
G |
A |
7: 25,058,627 (GRCm39) |
V2208I |
probably benign |
Het |
Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,578,135 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
G |
17: 90,515,849 (GRCm39) |
I1207T |
probably damaging |
Het |
Obox7 |
G |
A |
7: 14,397,972 (GRCm39) |
G4D |
probably benign |
Het |
Ogdh |
G |
A |
11: 6,300,655 (GRCm39) |
W827* |
probably null |
Het |
Or13g1 |
T |
C |
7: 85,955,437 (GRCm39) |
M295V |
probably benign |
Het |
Or4c118 |
T |
A |
2: 88,974,474 (GRCm39) |
K298* |
probably null |
Het |
Or4k15c |
A |
G |
14: 50,321,173 (GRCm39) |
*322Q |
probably null |
Het |
Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Sbpl |
T |
A |
17: 24,172,617 (GRCm39) |
I101L |
probably benign |
Het |
Serpina9 |
T |
A |
12: 103,975,151 (GRCm39) |
M1L |
probably benign |
Het |
Stxbp6 |
A |
G |
12: 44,949,641 (GRCm39) |
|
probably null |
Het |
Synpo2 |
A |
G |
3: 122,908,239 (GRCm39) |
V359A |
probably damaging |
Het |
Ttyh1 |
T |
A |
7: 4,132,317 (GRCm39) |
L155H |
probably damaging |
Het |
Vil1 |
A |
G |
1: 74,471,574 (GRCm39) |
D785G |
probably benign |
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 |
R3880:Zfp345
|
UTSW |
2 |
150,314,075 (GRCm39) |
missense |
possibly damaging |
0.91 |
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'- ATTCGTTGCATTCATATGGTCTCTC -3'
(R):5'- GTCCCAGTTCTCTTCAATACCA -3'
Sequencing Primer
(F):5'- GTTCGTTTATGATACAGGAGTCCAC -3'
(R):5'- CCCAGTTCTCTTCAATACCATAAAAG -3'
|
Posted On |
2015-04-17 |