Incidental Mutation 'PIT4494001:Zfp60'
| ID |
556152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp60
|
| Ensembl Gene |
ENSMUSG00000037640 |
| Gene Name |
zinc finger protein 60 |
| Synonyms |
Mfg-3, Mfg3, 6330516O17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4494001 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27430834-27451114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27448126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 265
(S265P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036627
(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: S265P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036627
Gene: ENSMUSG00000037640
AA Change: S265P
| 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: S265P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103973
Gene: ENSMUSG00000037640
AA Change: S265P
| 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 benign
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: S265P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132607
Gene: ENSMUSG00000037640
AA Change: S265P
| 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: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,292,522 (GRCm39) |
E413G |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,990,272 (GRCm39) |
Q2203L |
probably benign |
Het |
| F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,960 (GRCm39) |
Y842C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mynn |
C |
T |
3: 30,661,871 (GRCm39) |
R318* |
probably null |
Het |
| Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,469 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
T |
C |
7: 45,197,503 (GRCm39) |
S522P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
| Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
| Slc25a40 |
T |
G |
5: 8,490,737 (GRCm39) |
I95S |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
| Tox4 |
C |
T |
14: 52,529,260 (GRCm39) |
T407I |
possibly damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,712 (GRCm39) |
I254M |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
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 |
|
|
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 |
|
|
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'- TGTCTACTTACACTAGCAAGACTCTTG -3'
(R):5'- ACAGTGAAGGCCTTTCCACAC -3'
Sequencing Primer
(F):5'- CATCAGCATGAGAGTATTCACACTGG -3'
(R):5'- CACCTTACAATGAAAAGGTCTGTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation