Incidental Mutation 'R6179:Zfp40'
| ID |
487958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp40
|
| Ensembl Gene |
ENSMUSG00000002617 |
| Gene Name |
zinc finger protein 40 |
| Synonyms |
Zfp-40, NTfin12 |
| MMRRC Submission |
044321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23392843-23412226 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23397354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 48
(V48L)
|
| 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: V48L
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: V48L
| 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: V48L
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: V48L
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930426L09Rik |
T |
C |
2: 19,003,653 (GRCm39) |
|
probably benign |
Het |
| 4930590J08Rik |
T |
C |
6: 91,919,311 (GRCm39) |
S657P |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,025,080 (GRCm39) |
I988V |
probably benign |
Het |
| Acte1 |
A |
G |
7: 143,425,524 (GRCm39) |
T58A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,270,662 (GRCm39) |
D280E |
probably benign |
Het |
| Apob |
T |
A |
12: 8,055,060 (GRCm39) |
L1353* |
probably null |
Het |
| Atp2b1 |
C |
T |
10: 98,858,691 (GRCm39) |
R222C |
probably damaging |
Het |
| AW209491 |
T |
G |
13: 14,811,668 (GRCm39) |
S174A |
possibly damaging |
Het |
| B930094E09Rik |
G |
C |
18: 31,742,911 (GRCm39) |
|
probably benign |
Het |
| Cbln3 |
G |
T |
14: 56,121,517 (GRCm39) |
P43Q |
possibly damaging |
Het |
| Ccdc181 |
A |
T |
1: 164,107,487 (GRCm39) |
T57S |
probably benign |
Het |
| Ccr2 |
A |
C |
9: 123,906,008 (GRCm39) |
N96T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,956,837 (GRCm39) |
I868V |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,094,071 (GRCm39) |
I1535T |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,660,204 (GRCm39) |
T377S |
probably benign |
Het |
| Cpeb3 |
A |
G |
19: 37,065,853 (GRCm39) |
F439L |
probably damaging |
Het |
| Crb2 |
T |
C |
2: 37,680,269 (GRCm39) |
V399A |
probably damaging |
Het |
| Cry2 |
C |
T |
2: 92,244,187 (GRCm39) |
G329R |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,781,868 (GRCm39) |
E691G |
probably benign |
Het |
| Edil3 |
A |
T |
13: 88,970,108 (GRCm39) |
H3L |
probably benign |
Het |
| Endod1 |
T |
C |
9: 14,268,757 (GRCm39) |
I243V |
probably benign |
Het |
| Fpr3 |
G |
A |
17: 18,190,919 (GRCm39) |
W63* |
probably null |
Het |
| Gtse1 |
T |
G |
15: 85,753,158 (GRCm39) |
N424K |
possibly damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,783,192 (GRCm39) |
V252M |
probably damaging |
Het |
| Kifbp |
G |
A |
10: 62,399,029 (GRCm39) |
Q130* |
probably null |
Het |
| Lmbrd2 |
T |
G |
15: 9,149,262 (GRCm39) |
I48M |
probably damaging |
Het |
| Lrrc7 |
T |
G |
3: 158,059,069 (GRCm39) |
I13L |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,822,386 (GRCm39) |
S408P |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,028,529 (GRCm39) |
V542A |
possibly damaging |
Het |
| Msto1 |
C |
A |
3: 88,818,254 (GRCm39) |
R331L |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,979 (GRCm39) |
E1425K |
probably damaging |
Het |
| Nup43 |
T |
C |
10: 7,554,437 (GRCm39) |
I340T |
probably benign |
Het |
| Or1j4 |
T |
C |
2: 36,740,846 (GRCm39) |
S263P |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,736,669 (GRCm39) |
M884K |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,140,573 (GRCm39) |
L749H |
probably damaging |
Het |
| Pigp |
T |
C |
16: 94,171,226 (GRCm39) |
R22G |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,468,824 (GRCm39) |
M200T |
probably damaging |
Het |
| Ppig |
T |
A |
2: 69,580,471 (GRCm39) |
D668E |
unknown |
Het |
| Prss3 |
G |
A |
6: 41,352,060 (GRCm39) |
R68C |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,994,721 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,006,630 (GRCm39) |
F2116L |
possibly damaging |
Het |
| Spg21 |
T |
C |
9: 65,376,090 (GRCm39) |
S33P |
possibly damaging |
Het |
| Spns3 |
A |
G |
11: 72,390,349 (GRCm39) |
S432P |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,042,452 (GRCm39) |
E27G |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,320 (GRCm39) |
Q1468R |
probably benign |
Het |
| Tbce |
T |
G |
13: 14,194,362 (GRCm39) |
E99A |
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
| Trim10 |
A |
G |
17: 37,187,923 (GRCm39) |
T380A |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,220,501 (GRCm39) |
D472E |
probably damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,491,003 (GRCm39) |
Q415* |
probably null |
Het |
| Vwf |
G |
A |
6: 125,626,252 (GRCm39) |
C7Y |
unknown |
Het |
| Yeats2 |
C |
T |
16: 20,033,225 (GRCm39) |
P1088L |
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 |
|
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'- GGTTGTCTCTAGATAGATCAAAGAGC -3'
(R):5'- GCCCTCAAAGTATGTTAATTGTGAGTC -3'
Sequencing Primer
(F):5'- GGATGAGGGAGGAATTCTAT -3'
(R):5'- TGGGTTTTCCAGAAGATCAACCAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation