Incidental Mutation 'R1281:Zfp60'
| ID |
151026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp60
|
| Ensembl Gene |
ENSMUSG00000037640 |
| Gene Name |
zinc finger protein 60 |
| Synonyms |
Mfg-3, Mfg3, 6330516O17Rik |
| MMRRC Submission |
039347-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27430834-27451114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27437852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 53
(V53E)
|
| 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: V53E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036627
Gene: ENSMUSG00000037640
AA Change: V53E
| 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: V53E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103973
Gene: ENSMUSG00000037640
AA Change: V53E
| 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 |
noncoding transcript
Transcript: ENSMUST00000125228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126884
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130997
AA Change: V53E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118469
Gene: ENSMUSG00000037640
AA Change: V53E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
8.48e-36 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136373
AA Change: V53E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117049
Gene: ENSMUSG00000037640
AA Change: V53E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
55 |
3.2e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141753
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167955
AA Change: V53E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132607
Gene: ENSMUSG00000037640
AA Change: V53E
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
A |
T |
1: 173,287,377 (GRCm39) |
K126* |
probably null |
Het |
| C9 |
A |
T |
15: 6,519,321 (GRCm39) |
N386I |
possibly damaging |
Het |
| Csnk1e |
A |
C |
15: 79,304,841 (GRCm39) |
N387K |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,822,460 (GRCm39) |
T1758A |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,908,500 (GRCm39) |
I256V |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,157,569 (GRCm39) |
C565Y |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,902,759 (GRCm39) |
H379R |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Krt1c |
C |
A |
15: 101,721,727 (GRCm39) |
C438F |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,887,086 (GRCm39) |
T1001I |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,298,321 (GRCm39) |
F726L |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,812,980 (GRCm39) |
N550S |
possibly damaging |
Het |
| Necap1 |
G |
T |
6: 122,851,573 (GRCm39) |
D16Y |
possibly damaging |
Het |
| Nox3 |
A |
T |
17: 3,746,460 (GRCm39) |
I26N |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,304,932 (GRCm39) |
I262T |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,005,166 (GRCm39) |
E953G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,189 (GRCm39) |
C395S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,250 (GRCm39) |
I433M |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,602,055 (GRCm39) |
F552L |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,213,247 (GRCm39) |
N479S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,568,338 (GRCm39) |
V1342I |
probably benign |
Het |
| Ube2n |
C |
A |
10: 95,377,618 (GRCm39) |
N132K |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,825 (GRCm39) |
C193S |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,330,872 (GRCm39) |
C96R |
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 |
|
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 |
|
|
R5491:Zfp60
|
UTSW |
7 |
27,447,940 (GRCm39) |
splice site |
probably null |
|
|
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'- CATTCCTTATGTGTTTTACCCTGACCCC -3'
(R):5'- caccaagttatctctctagcACGCAATTAT -3'
Sequencing Primer
(F):5'- TTACCCTGACCCCAGGTGAC -3'
(R):5'- gcctggaactcactgtgtatc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation