Incidental Mutation 'R6759:Zfp40'
| ID |
531164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp40
|
| Ensembl Gene |
ENSMUSG00000002617 |
| Gene Name |
zinc finger protein 40 |
| Synonyms |
Zfp-40, NTfin12 |
| MMRRC Submission |
044875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6759 (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 T
at 23395510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 359
(R359H)
|
| 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: R359H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: R359H
| 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: R291H
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: R291H
| 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: R359H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: R359H
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,692 (GRCm39) |
S841G |
probably benign |
Het |
| 4933427I04Rik |
G |
T |
4: 123,753,879 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,921,399 (GRCm39) |
T199A |
probably damaging |
Het |
| Acnat2 |
C |
A |
4: 49,380,254 (GRCm39) |
V375L |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,677,320 (GRCm39) |
T434A |
possibly damaging |
Het |
| Aldh3a2 |
T |
C |
11: 61,156,088 (GRCm39) |
T63A |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,391,103 (GRCm39) |
S97P |
probably damaging |
Het |
| Apip |
T |
C |
2: 102,922,191 (GRCm39) |
S186P |
probably benign |
Het |
| Apob |
A |
G |
12: 8,061,049 (GRCm39) |
K3177R |
probably benign |
Het |
| Atm |
C |
T |
9: 53,429,859 (GRCm39) |
W392* |
probably null |
Het |
| Atp8b1 |
T |
A |
18: 64,679,161 (GRCm39) |
R773S |
probably benign |
Het |
| Bicdl2 |
T |
A |
17: 23,885,718 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
C |
T |
3: 37,042,234 (GRCm39) |
T2740I |
possibly damaging |
Het |
| Cacng3 |
G |
A |
7: 122,361,547 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
G |
T |
3: 144,455,450 (GRCm39) |
L448M |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,166,401 (GRCm39) |
I94M |
possibly damaging |
Het |
| Cnot3 |
G |
T |
7: 3,654,918 (GRCm39) |
V124F |
probably damaging |
Het |
| Cyp4a30b |
C |
T |
4: 115,318,571 (GRCm39) |
A426V |
probably benign |
Het |
| Dact1 |
T |
A |
12: 71,364,911 (GRCm39) |
L564* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,882,266 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
A |
14: 68,033,445 (GRCm39) |
T975S |
probably benign |
Het |
| Dock8 |
C |
A |
19: 25,104,848 (GRCm39) |
H739Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 4,034,613 (GRCm39) |
N186Y |
probably damaging |
Het |
| Enam |
G |
A |
5: 88,649,550 (GRCm39) |
G278D |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,578,256 (GRCm39) |
D181G |
probably benign |
Het |
| Gfra3 |
G |
T |
18: 34,828,926 (GRCm39) |
S156* |
probably null |
Het |
| Jam3 |
G |
C |
9: 27,013,276 (GRCm39) |
T98S |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,834,184 (GRCm39) |
I1435N |
probably damaging |
Het |
| Man2a1 |
G |
A |
17: 64,932,383 (GRCm39) |
A157T |
probably benign |
Het |
| Mcm3ap |
T |
A |
10: 76,337,148 (GRCm39) |
V1361E |
probably benign |
Het |
| Nobox |
A |
T |
6: 43,284,538 (GRCm39) |
L36Q |
possibly damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,277,100 (GRCm39) |
M198L |
probably benign |
Het |
| Or51a10 |
A |
G |
7: 103,699,334 (GRCm39) |
S76P |
probably damaging |
Het |
| Parp4 |
G |
A |
14: 56,857,947 (GRCm39) |
V860I |
probably benign |
Het |
| Pim3 |
T |
A |
15: 88,747,296 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
A |
T |
5: 103,713,121 (GRCm39) |
N1748I |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,145 (GRCm39) |
T356A |
possibly damaging |
Het |
| Ranbp2 |
C |
T |
10: 58,293,559 (GRCm39) |
R310* |
probably null |
Het |
| Rassf5 |
C |
T |
1: 131,109,988 (GRCm39) |
V190I |
probably benign |
Het |
| Rgl1 |
T |
G |
1: 152,409,281 (GRCm39) |
Q481P |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,276,063 (GRCm39) |
T537A |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,063,699 (GRCm39) |
S395R |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Strn4 |
A |
T |
7: 16,556,978 (GRCm39) |
E145V |
probably damaging |
Het |
| Tex21 |
T |
A |
12: 76,251,086 (GRCm39) |
|
probably null |
Het |
| Usp37 |
G |
A |
1: 74,534,908 (GRCm39) |
R13* |
probably null |
Het |
| Uty |
G |
T |
Y: 1,174,735 (GRCm39) |
L222I |
probably damaging |
Homo |
| Wwp2 |
A |
G |
8: 108,267,314 (GRCm39) |
T309A |
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 |
|
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 |
|
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'- ATGTATTCTTAGAGATGAGCCAACAG -3'
(R):5'- TCAAGTCTCTATAGGCATCGGAGA -3'
Sequencing Primer
(F):5'- GCCAACAGTAAAGGATTTCTCG -3'
(R):5'- TATAGGCATCGGAGAACTCATCCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation