Incidental Mutation 'R5491:Zfp60'
| ID |
432083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp60
|
| Ensembl Gene |
ENSMUSG00000037640 |
| Gene Name |
zinc finger protein 60 |
| Synonyms |
Mfg-3, Mfg3, 6330516O17Rik |
| MMRRC Submission |
043052-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5491 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27430834-27451114 bp(+) (GRCm39) |
| Type of Mutation |
splice site (292 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 27447940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042641]
[ENSMUST00000108336]
[ENSMUST00000130997]
[ENSMUST00000136373]
[ENSMUST00000167955]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042641
AA Change: C203G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036627
Gene: ENSMUSG00000037640
AA Change: C203G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
8.48e-36 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
2.67e-1 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
2.65e-5 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
677 |
699 |
8.34e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108336
AA Change: C203G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103973
Gene: ENSMUSG00000037640
AA Change: C203G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
8.48e-36 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
2.67e-1 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
2.65e-5 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
677 |
699 |
8.34e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130997
|
| SMART Domains |
Protein: ENSMUSP00000118469
Gene: ENSMUSG00000037640
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
8.48e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136373
|
| SMART Domains |
Protein: ENSMUSP00000117049
Gene: ENSMUSG00000037640
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
55 |
3.2e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167955
AA Change: C203G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132607
Gene: ENSMUSG00000037640
AA Change: C203G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
8.48e-36 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
2.67e-1 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
2.65e-5 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
677 |
699 |
8.34e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,462 (GRCm39) |
A182S |
possibly damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,358,649 (GRCm39) |
D2E |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,562,681 (GRCm39) |
D383Y |
probably damaging |
Het |
| Cd248 |
T |
C |
19: 5,120,237 (GRCm39) |
L695P |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,580,861 (GRCm39) |
N132Y |
probably damaging |
Het |
| Cisd2 |
A |
T |
3: 135,114,601 (GRCm39) |
D123E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,615,435 (GRCm39) |
D1571V |
probably damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxo48 |
C |
T |
11: 16,904,280 (GRCm39) |
T144M |
probably damaging |
Het |
| Fbxo7 |
C |
A |
10: 85,883,890 (GRCm39) |
P497Q |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,925 (GRCm39) |
I596V |
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,657,905 (GRCm39) |
H88L |
possibly damaging |
Het |
| Gpat4 |
A |
G |
8: 23,670,680 (GRCm39) |
I133T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,485,576 (GRCm39) |
|
probably null |
Het |
| Ncaph |
T |
C |
2: 126,965,595 (GRCm39) |
T252A |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,439,783 (GRCm39) |
Y163* |
probably null |
Het |
| Neurod4 |
C |
T |
10: 130,106,936 (GRCm39) |
V113I |
possibly damaging |
Het |
| Or13j1 |
A |
G |
4: 43,705,990 (GRCm39) |
S193P |
probably damaging |
Het |
| Or3a1d |
A |
T |
11: 74,237,740 (GRCm39) |
H103Q |
probably benign |
Het |
| Or4f56 |
T |
A |
2: 111,703,907 (GRCm39) |
I98F |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,350,466 (GRCm39) |
M37K |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,137,590 (GRCm39) |
N184S |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,487,634 (GRCm39) |
P480L |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,246 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rassf1 |
T |
A |
9: 107,438,614 (GRCm39) |
M228K |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,139,303 (GRCm39) |
D231G |
probably damaging |
Het |
| She |
A |
T |
3: 89,739,097 (GRCm39) |
D96V |
probably damaging |
Het |
| Shisal1 |
C |
A |
15: 84,290,711 (GRCm39) |
V199L |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,749,627 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,562,702 (GRCm39) |
I28751F |
probably damaging |
Het |
|
| Other mutations in Zfp60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03353:Zfp60
|
APN |
7 |
27,447,759 (GRCm39) |
nonsense |
probably null |
|
|
PIT4494001:Zfp60
|
UTSW |
7 |
27,448,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1281:Zfp60
|
UTSW |
7 |
27,437,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Zfp60
|
UTSW |
7 |
27,436,400 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1883:Zfp60
|
UTSW |
7 |
27,449,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1930:Zfp60
|
UTSW |
7 |
27,436,382 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3623:Zfp60
|
UTSW |
7 |
27,448,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3624:Zfp60
|
UTSW |
7 |
27,448,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3875:Zfp60
|
UTSW |
7 |
27,449,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Zfp60
|
UTSW |
7 |
27,437,955 (GRCm39) |
intron |
probably benign |
|
|
R5724:Zfp60
|
UTSW |
7 |
27,447,758 (GRCm39) |
missense |
probably benign |
|
|
R6134:Zfp60
|
UTSW |
7 |
27,449,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6312:Zfp60
|
UTSW |
7 |
27,448,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6477:Zfp60
|
UTSW |
7 |
27,449,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6649:Zfp60
|
UTSW |
7 |
27,448,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6653:Zfp60
|
UTSW |
7 |
27,448,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7041:Zfp60
|
UTSW |
7 |
27,448,451 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7166:Zfp60
|
UTSW |
7 |
27,448,937 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7185:Zfp60
|
UTSW |
7 |
27,437,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Zfp60
|
UTSW |
7 |
27,448,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Zfp60
|
UTSW |
7 |
27,448,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Zfp60
|
UTSW |
7 |
27,448,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7561:Zfp60
|
UTSW |
7 |
27,447,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Zfp60
|
UTSW |
7 |
27,447,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7961:Zfp60
|
UTSW |
7 |
27,447,881 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTATAGTGTAATCAAGGAGCC -3'
(R):5'- TGAAGGACTTCCCACACTCC -3'
Sequencing Primer
(F):5'- GTAATCAAGGAGCCACAGAATTATC -3'
(R):5'- CTCCTCACATTCAAATGGTTTTAAAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation