Incidental Mutation 'R1323:Zfp600'
| ID |
172451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp600
|
| Ensembl Gene |
ENSMUSG00000066007 |
| Gene Name |
zinc finger protein 600 |
| Synonyms |
Gm13164 |
| MMRRC Submission |
039389-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R1323 (G1)
|
| Quality Score |
153 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
146093397-146135326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146133261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 643
(Y643C)
|
| 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: Y643C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090425
Gene: ENSMUSG00000066007
AA Change: Y643C
| 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 |
probably benign
Transcript: ENSMUST00000131932
|
| SMART Domains |
Protein: ENSMUSP00000117892
Gene: ENSMUSG00000066007
| 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: Y643C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126879
Gene: ENSMUSG00000066007
AA Change: Y643C
| 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: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,240,937 (GRCm39) |
F933L |
possibly damaging |
Het |
| Abcc8 |
T |
G |
7: 45,766,786 (GRCm39) |
Q998P |
probably benign |
Het |
| Akr1e1 |
C |
T |
13: 4,657,547 (GRCm39) |
G17E |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,805,609 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,443 (GRCm39) |
I1524V |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,851 (GRCm39) |
L103P |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,259,864 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
G |
11: 102,334,951 (GRCm39) |
D62A |
probably damaging |
Het |
| Firrm |
C |
A |
1: 163,783,030 (GRCm39) |
|
probably benign |
Het |
| Frzb |
G |
A |
2: 80,243,720 (GRCm39) |
P320S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,816,096 (GRCm39) |
G3943V |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,437,278 (GRCm39) |
P10L |
possibly damaging |
Het |
| Grm8 |
A |
G |
6: 28,125,973 (GRCm39) |
L51P |
probably damaging |
Het |
| H2af-ps2 |
T |
G |
13: 51,357,100 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
C |
3: 3,699,281 (GRCm39) |
S4P |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,059,527 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
A |
G |
9: 15,774,432 (GRCm39) |
F209S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,689,778 (GRCm39) |
R313Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,868,810 (GRCm39) |
|
probably null |
Het |
| S100a14 |
T |
C |
3: 90,435,043 (GRCm39) |
V18A |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 177,989,414 (GRCm39) |
S1441R |
possibly damaging |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,313 (GRCm39) |
D770N |
probably damaging |
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 |
|
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 |
|
R5948:Zfp600
|
UTSW |
4 |
146,131,645 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Posted On |
2014-04-24 |
Incidental Mutation