Incidental Mutation 'R7725:Zfp40'
| ID |
595467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp40
|
| Ensembl Gene |
ENSMUSG00000002617 |
| Gene Name |
zinc finger protein 40 |
| Synonyms |
Zfp-40, NTfin12 |
| MMRRC Submission |
045781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23392843-23412226 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23397251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 82
(V82A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037057]
[ENSMUST00000140313]
[ENSMUST00000172177]
|
| AlphaFold |
B1B1D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037057
AA Change: V82A
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: V82A
| 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 |
probably benign
Transcript: ENSMUST00000140313
AA Change: V14A
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: V14A
| 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 |
probably benign
Transcript: ENSMUST00000172177
AA Change: V82A
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: V82A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
A |
T |
9: 69,387,410 (GRCm39) |
K6N |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,743,050 (GRCm39) |
M296K |
possibly damaging |
Het |
| Bdh1 |
G |
A |
16: 31,256,910 (GRCm39) |
V20I |
not run |
Het |
| Bop1 |
A |
G |
15: 76,339,583 (GRCm39) |
I254T |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cct4 |
A |
G |
11: 22,940,814 (GRCm39) |
K21E |
probably benign |
Het |
| Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
| Clip2 |
A |
T |
5: 134,546,853 (GRCm39) |
Y238* |
probably null |
Het |
| Col19a1 |
A |
T |
1: 24,309,525 (GRCm39) |
S1043T |
possibly damaging |
Het |
| Ctcf |
A |
G |
8: 106,390,468 (GRCm39) |
Y25C |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,704,330 (GRCm39) |
R282C |
probably benign |
Het |
| Eef1g |
T |
A |
19: 8,955,427 (GRCm39) |
H425Q |
probably benign |
Het |
| Fam131b |
C |
T |
6: 42,295,476 (GRCm39) |
A234T |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam187b |
A |
G |
7: 30,677,139 (GRCm39) |
D216G |
possibly damaging |
Het |
| Gabra1 |
A |
T |
11: 42,026,270 (GRCm39) |
Y341N |
possibly damaging |
Het |
| Glb1l3 |
T |
A |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
| Gm3667 |
T |
A |
14: 18,271,599 (GRCm39) |
Q52L |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,242,118 (GRCm39) |
R242H |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,245,522 (GRCm39) |
Y24C |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,358,680 (GRCm39) |
E49V |
unknown |
Het |
| Htra4 |
A |
G |
8: 25,527,169 (GRCm39) |
S209P |
possibly damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,489,196 (GRCm39) |
S22P |
probably benign |
Het |
| Lypd8l |
A |
T |
11: 58,499,325 (GRCm39) |
N164K |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,163,413 (GRCm39) |
K1347E |
probably damaging |
Het |
| Mrc1 |
C |
A |
2: 14,284,788 (GRCm39) |
D592E |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,143 (GRCm39) |
D193G |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,100,630 (GRCm39) |
V1316A |
|
Het |
| Odad1 |
T |
A |
7: 45,597,835 (GRCm39) |
S582T |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,593 (GRCm39) |
Y193H |
probably damaging |
Het |
| Or2y10 |
A |
T |
11: 49,455,359 (GRCm39) |
I204L |
probably benign |
Het |
| Or5t16 |
T |
C |
2: 86,819,323 (GRCm39) |
I66V |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,614,936 (GRCm39) |
Y303* |
probably null |
Het |
| Shld2 |
T |
G |
14: 33,990,661 (GRCm39) |
T82P |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,089,512 (GRCm39) |
L754P |
probably benign |
Het |
| Skint5 |
C |
A |
4: 113,685,099 (GRCm39) |
L539F |
unknown |
Het |
| St3gal4 |
C |
A |
9: 34,964,375 (GRCm39) |
R209L |
possibly damaging |
Het |
| Tex14 |
A |
C |
11: 87,385,868 (GRCm39) |
T243P |
probably damaging |
Het |
| Ttc12 |
T |
A |
9: 49,351,602 (GRCm39) |
M632L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,738,116 (GRCm39) |
E4187G |
unknown |
Het |
| Txk |
G |
A |
5: 72,864,900 (GRCm39) |
A379V |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,923,338 (GRCm39) |
Y28C |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,110,468 (GRCm39) |
Y386C |
unknown |
Het |
| Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
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 |
|
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 |
|
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'- GTTGCACAATACTGACTTTCATTGC -3'
(R):5'- AAAGCATTTTGTCAACAGCACATGG -3'
Sequencing Primer
(F):5'- AGGTTTCTTTCAACTCTGAATTTAGG -3'
(R):5'- TTTGTCAACAGCACATGGTAAATGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation