Incidental Mutation 'R2254:Zfp40'
ID |
241899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp40
|
Ensembl Gene |
ENSMUSG00000002617 |
Gene Name |
zinc finger protein 40 |
Synonyms |
Zfp-40, NTfin12 |
MMRRC Submission |
040254-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2254 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
23392843-23412226 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23397344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 51
(D51G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037057]
[ENSMUST00000140313]
[ENSMUST00000172177]
|
AlphaFold |
B1B1D3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037057
AA Change: D51G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039794 Gene: ENSMUSG00000002617 AA Change: D51G
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 benign
Transcript: ENSMUST00000140313
|
SMART Domains |
Protein: ENSMUSP00000121359 Gene: ENSMUSG00000002617
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: D51G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128758 Gene: ENSMUSG00000002617 AA Change: D51G
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
C |
13: 12,311,365 (GRCm39) |
E260G |
probably benign |
Het |
AI429214 |
G |
T |
8: 37,460,920 (GRCm39) |
D23Y |
possibly damaging |
Het |
Alms1 |
A |
G |
6: 85,596,830 (GRCm39) |
Y1021C |
probably damaging |
Het |
Ang5 |
A |
G |
14: 44,200,074 (GRCm39) |
D46G |
probably benign |
Het |
Ano9 |
T |
A |
7: 140,683,003 (GRCm39) |
D635V |
probably benign |
Het |
Apob |
C |
T |
12: 8,061,256 (GRCm39) |
T3246I |
possibly damaging |
Het |
Arhgef25 |
T |
C |
10: 127,025,390 (GRCm39) |
E63G |
probably benign |
Het |
B3gnt4 |
A |
C |
5: 123,649,342 (GRCm39) |
I236L |
probably damaging |
Het |
Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
Ccdc90b |
T |
A |
7: 92,221,776 (GRCm39) |
H118Q |
probably damaging |
Het |
Cdcp3 |
G |
T |
7: 130,824,634 (GRCm39) |
C243F |
probably damaging |
Het |
Cdh2 |
A |
T |
18: 16,776,985 (GRCm39) |
|
probably null |
Het |
Chmp7 |
C |
T |
14: 69,958,405 (GRCm39) |
V255I |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,352,979 (GRCm39) |
S2711T |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,939,707 (GRCm39) |
K137* |
probably null |
Het |
Gdi2 |
T |
A |
13: 3,604,400 (GRCm39) |
|
probably null |
Het |
Glyr1 |
A |
G |
16: 4,836,877 (GRCm39) |
V429A |
probably benign |
Het |
Gm5938 |
T |
A |
X: 77,172,161 (GRCm39) |
|
probably null |
Het |
Golt1b |
T |
C |
6: 142,341,979 (GRCm39) |
L121P |
probably damaging |
Het |
Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
Ifi204 |
G |
A |
1: 173,589,296 (GRCm39) |
T45M |
possibly damaging |
Het |
Il18r1 |
A |
G |
1: 40,530,380 (GRCm39) |
N369S |
possibly damaging |
Het |
Kcnh1 |
G |
T |
1: 192,187,722 (GRCm39) |
|
probably null |
Het |
Kitl |
G |
A |
10: 99,915,993 (GRCm39) |
|
probably null |
Het |
Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
Lax1 |
A |
G |
1: 133,607,971 (GRCm39) |
S257P |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,672,309 (GRCm39) |
I1111T |
probably benign |
Het |
Lrrcc1 |
G |
A |
3: 14,612,315 (GRCm39) |
R356H |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
Med11 |
T |
C |
11: 70,342,921 (GRCm39) |
|
probably null |
Het |
Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
Nup93 |
T |
C |
8: 94,954,485 (GRCm39) |
|
probably null |
Het |
Or51ag1 |
A |
G |
7: 103,155,271 (GRCm39) |
V294A |
probably damaging |
Het |
Ovch2 |
A |
G |
7: 107,389,402 (GRCm39) |
V342A |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,894,228 (GRCm39) |
|
probably benign |
Het |
Oxtr |
A |
T |
6: 112,466,067 (GRCm39) |
L231Q |
probably damaging |
Het |
Prap1 |
A |
G |
7: 139,676,075 (GRCm39) |
T30A |
probably damaging |
Het |
Scg2 |
G |
A |
1: 79,414,217 (GRCm39) |
P169S |
probably damaging |
Het |
Scube2 |
A |
G |
7: 109,424,666 (GRCm39) |
V549A |
possibly damaging |
Het |
Slc22a12 |
A |
T |
19: 6,592,571 (GRCm39) |
V57D |
possibly damaging |
Het |
Slc22a28 |
A |
C |
19: 8,041,858 (GRCm39) |
C450G |
probably benign |
Het |
Tas2r120 |
A |
T |
6: 132,634,572 (GRCm39) |
Q218L |
probably benign |
Het |
Tbx15 |
A |
G |
3: 99,259,190 (GRCm39) |
T354A |
possibly damaging |
Het |
Trim24 |
A |
G |
6: 37,935,612 (GRCm39) |
T868A |
probably benign |
Het |
Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
Wdr20rt |
T |
A |
12: 65,273,007 (GRCm39) |
W56R |
probably damaging |
Het |
Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp64 |
G |
A |
2: 168,768,662 (GRCm39) |
H317Y |
probably damaging |
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 |
IGL02729:Zfp40
|
APN |
17 |
23,397,285 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTTGTCTCTAGATAGATCAAAGAGC -3'
(R):5'- GCCCTCAAAGTATGTTAATTGTGAGTC -3'
Sequencing Primer
(F):5'- GGATGAGGGAGGAATTCTAT -3'
(R):5'- TGGGTTTTCCAGAAGATCAACCAG -3'
|
Posted On |
2014-10-16 |