Incidental Mutation 'R5948:Zfp600'
| ID |
472276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp600
|
| Ensembl Gene |
ENSMUSG00000066007 |
| Gene Name |
zinc finger protein 600 |
| Synonyms |
Gm13164 |
| MMRRC Submission |
043244-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.397)
|
| Stock # |
R5948 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
146093397-146135326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 146131645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 104
(N104K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092750]
[ENSMUST00000131932]
[ENSMUST00000168483]
|
| AlphaFold |
A2A7V0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092750
AA Change: N104K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090425
Gene: ENSMUSG00000066007
AA Change: N104K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
90 |
1.29e-17 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
363 |
385 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
391 |
413 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
419 |
441 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
447 |
469 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
475 |
497 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
503 |
525 |
3.04e-5 |
SMART |
|
ZnF_C2H2
|
531 |
553 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
559 |
581 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
587 |
609 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
615 |
637 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
643 |
665 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
671 |
693 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
699 |
721 |
1.6e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131932
AA Change: N104K
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117892
Gene: ENSMUSG00000066007
AA Change: N104K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
90 |
1.29e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153595
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168483
AA Change: N104K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126879
Gene: ENSMUSG00000066007
AA Change: N104K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
90 |
1.29e-17 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
363 |
385 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
391 |
413 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
419 |
441 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
447 |
469 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
475 |
497 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
503 |
525 |
3.04e-5 |
SMART |
|
ZnF_C2H2
|
531 |
553 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
559 |
581 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
587 |
609 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
615 |
637 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
643 |
665 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
671 |
693 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
699 |
721 |
1.6e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181199
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
T |
C |
3: 37,137,504 (GRCm39) |
|
probably null |
Het |
| Adam8 |
G |
T |
7: 139,567,797 (GRCm39) |
D341E |
probably benign |
Het |
| Ankrd6 |
T |
C |
4: 32,817,075 (GRCm39) |
T351A |
possibly damaging |
Het |
| Ccdc150 |
T |
C |
1: 54,316,873 (GRCm39) |
S251P |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,036,546 (GRCm39) |
N629S |
probably damaging |
Het |
| Col4a2 |
T |
C |
8: 11,470,600 (GRCm39) |
S453P |
probably benign |
Het |
| Csf2 |
T |
C |
11: 54,138,514 (GRCm39) |
D109G |
probably benign |
Het |
| Dapk1 |
C |
A |
13: 60,877,209 (GRCm39) |
H483N |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,711,657 (GRCm39) |
I2628R |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,377 (GRCm39) |
Y2041H |
possibly damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,073 (GRCm39) |
N280S |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,043,052 (GRCm39) |
Y324N |
probably damaging |
Het |
| Epsti1 |
T |
C |
14: 78,177,330 (GRCm39) |
L170P |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,170,121 (GRCm39) |
G2217R |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,254,715 (GRCm39) |
|
probably null |
Het |
| Mrpl39 |
T |
C |
16: 84,522,041 (GRCm39) |
N244D |
probably benign |
Het |
| Nptxr |
C |
T |
15: 79,674,042 (GRCm39) |
A445T |
probably benign |
Het |
| Or1j15 |
A |
G |
2: 36,459,363 (GRCm39) |
Y251C |
probably damaging |
Het |
| Otud3 |
A |
G |
4: 138,624,925 (GRCm39) |
Y259H |
probably benign |
Het |
| Parvb |
G |
A |
15: 84,187,662 (GRCm39) |
V257M |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,210,086 (GRCm39) |
E2258G |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,400,015 (GRCm39) |
E2303G |
possibly damaging |
Het |
| Psmc6 |
A |
G |
14: 45,572,114 (GRCm39) |
D88G |
probably benign |
Het |
| Rbbp6 |
C |
T |
7: 122,596,851 (GRCm39) |
T701I |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,557,033 (GRCm39) |
D1602V |
possibly damaging |
Het |
| Rubcnl |
T |
C |
14: 75,285,056 (GRCm39) |
L525P |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,088,492 (GRCm39) |
D73G |
probably damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,146,176 (GRCm39) |
M1185K |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,960,960 (GRCm39) |
K469E |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,549,088 (GRCm39) |
L94P |
probably damaging |
Het |
| Ttf1 |
G |
A |
2: 28,963,932 (GRCm39) |
A603T |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,324,996 (GRCm39) |
H1686Q |
possibly damaging |
Het |
| Vps37a |
A |
G |
8: 40,993,752 (GRCm39) |
E249G |
possibly damaging |
Het |
| Zfp273 |
A |
G |
13: 67,973,918 (GRCm39) |
I316V |
probably benign |
Het |
|
| Other mutations in Zfp600 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4131001:Zfp600
|
UTSW |
4 |
146,131,802 (GRCm39) |
frame shift |
probably null |
|
|
R1004:Zfp600
|
UTSW |
4 |
146,133,103 (GRCm39) |
unclassified |
probably benign |
|
|
R1323:Zfp600
|
UTSW |
4 |
146,133,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1323:Zfp600
|
UTSW |
4 |
146,133,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1702:Zfp600
|
UTSW |
4 |
146,133,497 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2165:Zfp600
|
UTSW |
4 |
146,133,488 (GRCm39) |
nonsense |
probably null |
|
|
R5238:Zfp600
|
UTSW |
4 |
146,131,741 (GRCm39) |
splice site |
probably null |
|
|
R5548:Zfp600
|
UTSW |
4 |
146,133,019 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5646:Zfp600
|
UTSW |
4 |
146,131,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Zfp600
|
UTSW |
4 |
146,131,701 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7044:Zfp600
|
UTSW |
4 |
146,131,892 (GRCm39) |
nonsense |
probably null |
|
|
R7836:Zfp600
|
UTSW |
4 |
146,133,523 (GRCm39) |
missense |
probably benign |
|
|
R8080:Zfp600
|
UTSW |
4 |
146,133,182 (GRCm39) |
missense |
unknown |
|
|
R8749:Zfp600
|
UTSW |
4 |
146,133,151 (GRCm39) |
missense |
unknown |
|
|
R9255:Zfp600
|
UTSW |
4 |
146,131,673 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1176:Zfp600
|
UTSW |
4 |
146,133,209 (GRCm39) |
missense |
unknown |
|
|
Z1177:Zfp600
|
UTSW |
4 |
146,133,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCTGAGGATCCATGCAATG -3'
(R):5'- TTGAGACTAATGATAGAAGACCCC -3'
Sequencing Primer
(F):5'- AAAGGAAAACCTCTCTTGAGAATATG -3'
(R):5'- GACCCCTTTAAACAGTTTACACAGTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation