Incidental Mutation 'R3764:Zfp40'
| ID |
271822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp40
|
| Ensembl Gene |
ENSMUSG00000002617 |
| Gene Name |
zinc finger protein 40 |
| Synonyms |
Zfp-40, NTfin12 |
| MMRRC Submission |
040741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23392843-23412226 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23396101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 94
(H94L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037057]
[ENSMUST00000140313]
[ENSMUST00000172177]
|
| AlphaFold |
B1B1D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037057
AA Change: H162L
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: H162L
| 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 |
possibly damaging
Transcript: ENSMUST00000140313
AA Change: H94L
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: H94L
| 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: H162L
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: H162L
| 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 |
0.6059 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
G |
A |
17: 14,066,851 (GRCm39) |
A648T |
probably benign |
Het |
| Cadm3 |
C |
T |
1: 173,174,064 (GRCm39) |
V50I |
probably damaging |
Het |
| Catspere2 |
A |
T |
1: 177,940,698 (GRCm39) |
T687S |
unknown |
Het |
| Cubn |
T |
A |
2: 13,336,396 (GRCm39) |
I2477F |
possibly damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Eif4e3 |
C |
T |
6: 99,617,586 (GRCm39) |
R95Q |
probably damaging |
Het |
| Fmo5 |
T |
C |
3: 97,553,033 (GRCm39) |
I327T |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,483,842 (GRCm39) |
|
probably benign |
Het |
| Ghrhr |
T |
C |
6: 55,357,756 (GRCm39) |
V129A |
probably damaging |
Het |
| Gsdma |
A |
T |
11: 98,561,593 (GRCm39) |
N191I |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,349,207 (GRCm39) |
K135E |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,326,680 (GRCm39) |
E1797G |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,421,712 (GRCm39) |
Y513C |
possibly damaging |
Het |
| Nphp4 |
C |
T |
4: 152,622,474 (GRCm39) |
|
probably benign |
Het |
| Pate8 |
A |
T |
9: 36,493,114 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
A |
G |
8: 41,783,919 (GRCm39) |
E2005G |
probably damaging |
Het |
| Spsb2 |
T |
C |
6: 124,786,518 (GRCm39) |
Y84H |
probably damaging |
Het |
| Tlcd3b |
T |
C |
7: 126,426,685 (GRCm39) |
I36T |
probably damaging |
Het |
| Try10 |
C |
T |
6: 41,333,458 (GRCm39) |
R68C |
probably benign |
Het |
| Tut7 |
T |
A |
13: 59,948,194 (GRCm39) |
E307V |
probably damaging |
Het |
| Ube3c |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 29,842,584 (GRCm39) |
|
probably benign |
Het |
| Vps50 |
A |
T |
6: 3,588,063 (GRCm39) |
I679F |
probably damaging |
Het |
| Wdr81 |
G |
A |
11: 75,343,629 (GRCm39) |
T546I |
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 |
|
R2254:Zfp40
|
UTSW |
17 |
23,397,344 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- ACTACACATTCGTTTTATCATGAGTT -3'
(R):5'- TTGCATATGTGGTAAATACGAAGAGGA -3'
Sequencing Primer
(F):5'- GCCAATGATGGAACACAA -3'
(R):5'- AGGACATGGATCAAAGTTCAAATC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation