Incidental Mutation 'IGL02729:Zfp40'
ID |
305384 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp40
|
Ensembl Gene |
ENSMUSG00000002617 |
Gene Name |
zinc finger protein 40 |
Synonyms |
Zfp-40, NTfin12 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02729
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
23392843-23412226 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 23397285 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 3
(V3I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037057]
[ENSMUST00000140313]
[ENSMUST00000172177]
|
AlphaFold |
B1B1D3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037057
AA Change: V71I
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000039794 Gene: ENSMUSG00000002617 AA Change: V71I
Domain | Start | End | E-Value | Type |
KRAB
|
43 |
103 |
2.96e-17 |
SMART |
ZnF_C2H2
|
225 |
247 |
1.47e-3 |
SMART |
ZnF_C2H2
|
281 |
302 |
5.77e0 |
SMART |
ZnF_C2H2
|
308 |
330 |
4.34e0 |
SMART |
ZnF_C2H2
|
336 |
358 |
1.82e-3 |
SMART |
ZnF_C2H2
|
363 |
385 |
4.24e-4 |
SMART |
ZnF_C2H2
|
391 |
413 |
2.75e-3 |
SMART |
ZnF_C2H2
|
419 |
441 |
1.38e-3 |
SMART |
ZnF_C2H2
|
447 |
469 |
9.58e-3 |
SMART |
ZnF_C2H2
|
475 |
497 |
1.47e-3 |
SMART |
ZnF_C2H2
|
503 |
525 |
8.47e-4 |
SMART |
ZnF_C2H2
|
531 |
553 |
2.57e-3 |
SMART |
ZnF_C2H2
|
559 |
581 |
8.47e-4 |
SMART |
ZnF_C2H2
|
587 |
609 |
4.54e-4 |
SMART |
ZnF_C2H2
|
615 |
636 |
1.26e1 |
SMART |
ZnF_C2H2
|
642 |
664 |
5.59e-4 |
SMART |
ZnF_C2H2
|
670 |
692 |
3.21e-4 |
SMART |
ZnF_C2H2
|
698 |
720 |
2.24e-3 |
SMART |
ZnF_C2H2
|
726 |
748 |
1.2e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135840
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140313
AA Change: V3I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121359 Gene: ENSMUSG00000002617 AA Change: V3I
Domain | Start | End | E-Value | Type |
Blast:KRAB
|
1 |
35 |
4e-16 |
BLAST |
ZnF_C2H2
|
157 |
179 |
1.47e-3 |
SMART |
ZnF_C2H2
|
213 |
234 |
5.77e0 |
SMART |
ZnF_C2H2
|
240 |
262 |
4.34e0 |
SMART |
ZnF_C2H2
|
268 |
290 |
1.82e-3 |
SMART |
ZnF_C2H2
|
295 |
317 |
4.24e-4 |
SMART |
ZnF_C2H2
|
323 |
345 |
2.75e-3 |
SMART |
ZnF_C2H2
|
351 |
373 |
1.38e-3 |
SMART |
ZnF_C2H2
|
379 |
401 |
9.58e-3 |
SMART |
ZnF_C2H2
|
407 |
429 |
1.47e-3 |
SMART |
ZnF_C2H2
|
435 |
457 |
8.47e-4 |
SMART |
ZnF_C2H2
|
463 |
485 |
2.57e-3 |
SMART |
ZnF_C2H2
|
491 |
513 |
8.47e-4 |
SMART |
ZnF_C2H2
|
519 |
541 |
4.54e-4 |
SMART |
ZnF_C2H2
|
547 |
568 |
1.26e1 |
SMART |
ZnF_C2H2
|
574 |
596 |
5.59e-4 |
SMART |
ZnF_C2H2
|
602 |
624 |
3.21e-4 |
SMART |
ZnF_C2H2
|
630 |
652 |
2.24e-3 |
SMART |
ZnF_C2H2
|
658 |
680 |
1.2e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142999
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172177
AA Change: V71I
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128758 Gene: ENSMUSG00000002617 AA Change: V71I
Domain | Start | End | E-Value | Type |
KRAB
|
43 |
103 |
2.96e-17 |
SMART |
ZnF_C2H2
|
225 |
247 |
1.47e-3 |
SMART |
ZnF_C2H2
|
281 |
302 |
5.77e0 |
SMART |
ZnF_C2H2
|
308 |
330 |
4.34e0 |
SMART |
ZnF_C2H2
|
336 |
358 |
1.82e-3 |
SMART |
ZnF_C2H2
|
363 |
385 |
4.24e-4 |
SMART |
ZnF_C2H2
|
391 |
413 |
2.75e-3 |
SMART |
ZnF_C2H2
|
419 |
441 |
1.38e-3 |
SMART |
ZnF_C2H2
|
447 |
469 |
9.58e-3 |
SMART |
ZnF_C2H2
|
475 |
497 |
1.47e-3 |
SMART |
ZnF_C2H2
|
503 |
525 |
8.47e-4 |
SMART |
ZnF_C2H2
|
531 |
553 |
2.57e-3 |
SMART |
ZnF_C2H2
|
559 |
581 |
8.47e-4 |
SMART |
ZnF_C2H2
|
587 |
609 |
4.54e-4 |
SMART |
ZnF_C2H2
|
615 |
636 |
1.26e1 |
SMART |
ZnF_C2H2
|
642 |
664 |
5.59e-4 |
SMART |
ZnF_C2H2
|
670 |
692 |
3.21e-4 |
SMART |
ZnF_C2H2
|
698 |
720 |
2.24e-3 |
SMART |
ZnF_C2H2
|
726 |
748 |
1.2e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,499,455 (GRCm39) |
E1358G |
probably benign |
Het |
Alpk1 |
T |
A |
3: 127,474,721 (GRCm39) |
L427F |
possibly damaging |
Het |
Atat1 |
T |
C |
17: 36,209,283 (GRCm39) |
T326A |
probably benign |
Het |
Calcr |
T |
A |
6: 3,707,595 (GRCm39) |
H235L |
probably benign |
Het |
Cdc16 |
A |
G |
8: 13,829,250 (GRCm39) |
D512G |
possibly damaging |
Het |
Cilp |
G |
A |
9: 65,185,372 (GRCm39) |
R489Q |
possibly damaging |
Het |
Ddx4 |
C |
T |
13: 112,787,946 (GRCm39) |
|
probably benign |
Het |
Dennd1c |
T |
C |
17: 57,373,637 (GRCm39) |
D612G |
probably benign |
Het |
Hyal6 |
A |
C |
6: 24,734,694 (GRCm39) |
Y209S |
probably damaging |
Het |
Irf4 |
T |
C |
13: 30,937,574 (GRCm39) |
|
probably null |
Het |
Itgae |
T |
C |
11: 73,009,029 (GRCm39) |
|
probably benign |
Het |
L3mbtl4 |
C |
T |
17: 68,791,738 (GRCm39) |
T272I |
probably benign |
Het |
Lyst |
T |
C |
13: 13,848,924 (GRCm39) |
I2037T |
possibly damaging |
Het |
Lyst |
C |
A |
13: 13,921,194 (GRCm39) |
P3380Q |
possibly damaging |
Het |
Mgat4b |
A |
G |
11: 50,124,136 (GRCm39) |
I359V |
probably benign |
Het |
Mybl1 |
A |
T |
1: 9,742,795 (GRCm39) |
D604E |
probably benign |
Het |
Myh7b |
A |
T |
2: 155,467,609 (GRCm39) |
S745C |
probably damaging |
Het |
Or13c7 |
C |
A |
4: 43,854,439 (GRCm39) |
N43K |
probably damaging |
Het |
Or1ad8 |
T |
C |
11: 50,897,892 (GRCm39) |
F31S |
probably damaging |
Het |
Or6c212 |
T |
G |
10: 129,559,390 (GRCm39) |
I8L |
probably benign |
Het |
Pced1a |
A |
T |
2: 130,263,823 (GRCm39) |
H276Q |
probably benign |
Het |
Pdx1 |
C |
A |
5: 147,211,424 (GRCm39) |
P215Q |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,034,082 (GRCm39) |
M1V |
probably null |
Het |
Prrc2b |
T |
A |
2: 32,098,770 (GRCm39) |
M621K |
probably damaging |
Het |
Ptprh |
T |
G |
7: 4,583,873 (GRCm39) |
N240H |
probably damaging |
Het |
Rsph1 |
T |
A |
17: 31,492,293 (GRCm39) |
E91V |
probably damaging |
Het |
Scn1a |
A |
G |
2: 66,129,994 (GRCm39) |
C1274R |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,058,581 (GRCm39) |
P1179S |
possibly damaging |
Het |
Skint7 |
C |
A |
4: 111,839,367 (GRCm39) |
F220L |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,591,773 (GRCm39) |
Y1283F |
probably damaging |
Het |
Taf1b |
A |
G |
12: 24,597,624 (GRCm39) |
|
probably benign |
Het |
Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,596,554 (GRCm39) |
|
probably benign |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,994,555 (GRCm39) |
Y541H |
probably damaging |
Het |
Zfp536 |
T |
A |
7: 37,193,143 (GRCm39) |
H766L |
probably damaging |
Het |
Zfyve21 |
A |
G |
12: 111,791,485 (GRCm39) |
I157V |
probably benign |
Het |
|
Other mutations in Zfp40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00719:Zfp40
|
APN |
17 |
23,394,716 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02664:Zfp40
|
APN |
17 |
23,395,960 (GRCm39) |
missense |
probably benign |
0.14 |
R1288:Zfp40
|
UTSW |
17 |
23,401,136 (GRCm39) |
missense |
probably benign |
0.01 |
R1450:Zfp40
|
UTSW |
17 |
23,394,232 (GRCm39) |
missense |
probably benign |
0.15 |
R1535:Zfp40
|
UTSW |
17 |
23,394,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R1655:Zfp40
|
UTSW |
17 |
23,396,240 (GRCm39) |
missense |
probably benign |
0.01 |
R1797:Zfp40
|
UTSW |
17 |
23,394,514 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2254:Zfp40
|
UTSW |
17 |
23,397,344 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3764:Zfp40
|
UTSW |
17 |
23,396,101 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4356:Zfp40
|
UTSW |
17 |
23,396,164 (GRCm39) |
missense |
probably benign |
0.15 |
R4402:Zfp40
|
UTSW |
17 |
23,395,693 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4781:Zfp40
|
UTSW |
17 |
23,394,629 (GRCm39) |
missense |
probably damaging |
0.99 |
R4792:Zfp40
|
UTSW |
17 |
23,396,008 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6142:Zfp40
|
UTSW |
17 |
23,395,311 (GRCm39) |
missense |
probably benign |
0.40 |
R6179:Zfp40
|
UTSW |
17 |
23,397,354 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6759:Zfp40
|
UTSW |
17 |
23,395,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7294:Zfp40
|
UTSW |
17 |
23,395,411 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7332:Zfp40
|
UTSW |
17 |
23,395,155 (GRCm39) |
nonsense |
probably null |
|
R7386:Zfp40
|
UTSW |
17 |
23,395,981 (GRCm39) |
missense |
probably damaging |
0.96 |
R7462:Zfp40
|
UTSW |
17 |
23,397,362 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7479:Zfp40
|
UTSW |
17 |
23,396,292 (GRCm39) |
missense |
probably benign |
0.23 |
R7641:Zfp40
|
UTSW |
17 |
23,397,257 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7725:Zfp40
|
UTSW |
17 |
23,397,251 (GRCm39) |
missense |
probably benign |
0.38 |
R7825:Zfp40
|
UTSW |
17 |
23,395,301 (GRCm39) |
missense |
probably benign |
0.24 |
R7839:Zfp40
|
UTSW |
17 |
23,395,963 (GRCm39) |
missense |
probably damaging |
0.99 |
R7881:Zfp40
|
UTSW |
17 |
23,410,440 (GRCm39) |
unclassified |
probably benign |
|
R8501:Zfp40
|
UTSW |
17 |
23,397,272 (GRCm39) |
missense |
probably damaging |
0.99 |
R8722:Zfp40
|
UTSW |
17 |
23,395,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R8853:Zfp40
|
UTSW |
17 |
23,394,691 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8945:Zfp40
|
UTSW |
17 |
23,401,201 (GRCm39) |
missense |
probably benign |
|
R9206:Zfp40
|
UTSW |
17 |
23,394,551 (GRCm39) |
missense |
probably damaging |
0.98 |
R9208:Zfp40
|
UTSW |
17 |
23,394,551 (GRCm39) |
missense |
probably damaging |
0.98 |
R9406:Zfp40
|
UTSW |
17 |
23,396,129 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9640:Zfp40
|
UTSW |
17 |
23,394,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R9765:Zfp40
|
UTSW |
17 |
23,395,863 (GRCm39) |
nonsense |
probably null |
|
X0022:Zfp40
|
UTSW |
17 |
23,396,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |