Incidental Mutation 'R6142:Zfp40'
ID |
488642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp40
|
Ensembl Gene |
ENSMUSG00000002617 |
Gene Name |
zinc finger protein 40 |
Synonyms |
Zfp-40, NTfin12 |
MMRRC Submission |
044289-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6142 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
23392843-23412226 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 23395311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 425
(E425D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037057]
[ENSMUST00000140313]
[ENSMUST00000172177]
|
AlphaFold |
B1B1D3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037057
AA Change: E425D
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000039794 Gene: ENSMUSG00000002617 AA Change: E425D
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
AA Change: E357D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000121359 Gene: ENSMUSG00000002617 AA Change: E357D
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 |
probably benign
Transcript: ENSMUST00000172177
AA Change: E425D
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128758 Gene: ENSMUSG00000002617 AA Change: E425D
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.2%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
T |
C |
15: 98,496,303 (GRCm39) |
M579V |
probably benign |
Het |
Agtr1b |
T |
C |
3: 20,370,558 (GRCm39) |
D16G |
probably benign |
Het |
Akap12 |
C |
A |
10: 4,263,740 (GRCm39) |
|
probably null |
Het |
Alpk2 |
T |
C |
18: 65,438,456 (GRCm39) |
E979G |
possibly damaging |
Het |
Arfgap3 |
T |
C |
15: 83,234,328 (GRCm39) |
D8G |
probably damaging |
Het |
AW551984 |
G |
T |
9: 39,508,410 (GRCm39) |
L369I |
probably benign |
Het |
Bmp8b |
A |
T |
4: 123,009,043 (GRCm39) |
H207L |
probably benign |
Het |
Cc2d2a |
G |
T |
5: 43,860,540 (GRCm39) |
V490F |
probably damaging |
Het |
Cnot6l |
C |
T |
5: 96,230,837 (GRCm39) |
V377I |
probably benign |
Het |
Col25a1 |
T |
A |
3: 130,376,978 (GRCm39) |
|
probably benign |
Het |
Crocc2 |
C |
G |
1: 93,118,201 (GRCm39) |
Q375E |
possibly damaging |
Het |
Ganc |
T |
C |
2: 120,261,218 (GRCm39) |
|
probably null |
Het |
Gm28168 |
C |
A |
1: 117,875,678 (GRCm39) |
D102E |
probably benign |
Het |
Gm8212 |
T |
C |
14: 44,438,684 (GRCm39) |
|
probably null |
Het |
Gria2 |
T |
C |
3: 80,709,024 (GRCm39) |
T53A |
probably benign |
Het |
Hipk4 |
G |
A |
7: 27,228,590 (GRCm39) |
V347M |
probably damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,269,309 (GRCm39) |
E991G |
probably benign |
Het |
Hyal1 |
G |
A |
9: 107,456,573 (GRCm39) |
R420H |
probably benign |
Het |
Il5 |
G |
A |
11: 53,611,805 (GRCm39) |
|
probably null |
Het |
Kcnh7 |
T |
C |
2: 62,569,704 (GRCm39) |
I731V |
possibly damaging |
Het |
Lamb2 |
A |
T |
9: 108,362,817 (GRCm39) |
K759* |
probably null |
Het |
Lnpep |
A |
G |
17: 17,786,943 (GRCm39) |
|
probably null |
Het |
Lrch1 |
T |
C |
14: 75,184,940 (GRCm39) |
E54G |
probably damaging |
Het |
Msl3l2 |
A |
G |
10: 55,991,461 (GRCm39) |
D62G |
possibly damaging |
Het |
Mslnl |
T |
C |
17: 25,963,531 (GRCm39) |
L339P |
probably damaging |
Het |
Nfe2l2 |
T |
C |
2: 75,509,761 (GRCm39) |
I20V |
probably damaging |
Het |
Pgm5 |
A |
C |
19: 24,801,772 (GRCm39) |
I152S |
probably damaging |
Het |
Plcg2 |
C |
A |
8: 118,312,010 (GRCm39) |
T434K |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,537,956 (GRCm39) |
E558G |
unknown |
Het |
Ranbp3 |
T |
C |
17: 56,993,018 (GRCm39) |
V12A |
probably benign |
Het |
Rgsl1 |
A |
G |
1: 153,687,984 (GRCm39) |
V635A |
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,746,164 (GRCm39) |
V14A |
probably benign |
Het |
Rxrg |
G |
T |
1: 167,460,191 (GRCm39) |
A341S |
possibly damaging |
Het |
Sbf2 |
A |
G |
7: 109,948,182 (GRCm39) |
S1177P |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,414,266 (GRCm39) |
T498A |
probably benign |
Het |
Slc13a4 |
G |
A |
6: 35,278,718 (GRCm39) |
A57V |
probably damaging |
Het |
Slc6a3 |
A |
T |
13: 73,692,902 (GRCm39) |
D174V |
probably benign |
Het |
Spart |
T |
G |
3: 55,024,669 (GRCm39) |
V88G |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,663,566 (GRCm39) |
R1108* |
probably null |
Het |
Tas2r140 |
C |
T |
6: 133,032,698 (GRCm39) |
G20E |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,940,373 (GRCm39) |
V225A |
probably benign |
Het |
Tmem168 |
C |
A |
6: 13,591,368 (GRCm39) |
A99S |
probably benign |
Het |
Tnk2 |
T |
A |
16: 32,488,917 (GRCm39) |
D252E |
probably damaging |
Het |
Tpsg1 |
A |
T |
17: 25,591,460 (GRCm39) |
H20L |
probably benign |
Het |
Tram1l1 |
T |
C |
3: 124,115,092 (GRCm39) |
F84S |
probably damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,240,763 (GRCm39) |
I117L |
probably benign |
Het |
Zfp148 |
T |
C |
16: 33,315,829 (GRCm39) |
L219S |
possibly damaging |
Het |
Zfp773 |
T |
C |
7: 7,135,481 (GRCm39) |
T372A |
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 |
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 |
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 |
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'- CATTTGTAAGGTTTCTCTCCTGTGT -3'
(R):5'- AGAGGCCTTATGAATGTAAGCA -3'
Sequencing Primer
(F):5'- TGATGCATTCTAAGATCCGAGCC -3'
(R):5'- CAGATGTAATGAATGTGGCAAATCCC -3'
|
Posted On |
2017-10-10 |