Incidental Mutation 'R4349:Zfp605'
ID |
328435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp605
|
Ensembl Gene |
ENSMUSG00000023284 |
Gene Name |
zinc finger protein 605 |
Synonyms |
A830023I12Rik |
MMRRC Submission |
041104-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R4349 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
110257958-110277660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110276552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 557
(C557S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108147
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086686]
[ENSMUST00000112528]
[ENSMUST00000147631]
|
AlphaFold |
E9QAH2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086686
AA Change: C557S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083891 Gene: ENSMUSG00000023284 AA Change: C557S
Domain | Start | End | E-Value | Type |
KRAB
|
6 |
66 |
3.75e-28 |
SMART |
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
ZnF_C2H2
|
200 |
222 |
1.36e-2 |
SMART |
ZnF_C2H2
|
228 |
250 |
4.38e1 |
SMART |
ZnF_C2H2
|
305 |
327 |
1.18e-2 |
SMART |
ZnF_C2H2
|
333 |
355 |
5.14e-3 |
SMART |
ZnF_C2H2
|
361 |
383 |
9.73e-4 |
SMART |
ZnF_C2H2
|
389 |
411 |
4.99e1 |
SMART |
ZnF_C2H2
|
443 |
465 |
5.4e1 |
SMART |
ZnF_C2H2
|
471 |
493 |
1.3e-4 |
SMART |
ZnF_C2H2
|
499 |
521 |
4.24e-4 |
SMART |
ZnF_C2H2
|
527 |
549 |
1.95e-3 |
SMART |
ZnF_C2H2
|
555 |
577 |
2.09e-3 |
SMART |
ZnF_C2H2
|
583 |
605 |
1.2e-3 |
SMART |
ZnF_C2H2
|
611 |
633 |
1.79e-2 |
SMART |
ZnF_C2H2
|
639 |
661 |
2.53e-2 |
SMART |
ZnF_C2H2
|
667 |
689 |
2.09e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112528
AA Change: C557S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108147 Gene: ENSMUSG00000023284 AA Change: C557S
Domain | Start | End | E-Value | Type |
KRAB
|
6 |
66 |
3.75e-28 |
SMART |
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
ZnF_C2H2
|
200 |
222 |
1.36e-2 |
SMART |
ZnF_C2H2
|
228 |
250 |
4.38e1 |
SMART |
ZnF_C2H2
|
305 |
327 |
1.18e-2 |
SMART |
ZnF_C2H2
|
333 |
355 |
5.14e-3 |
SMART |
ZnF_C2H2
|
361 |
383 |
9.73e-4 |
SMART |
ZnF_C2H2
|
389 |
411 |
4.99e1 |
SMART |
ZnF_C2H2
|
443 |
465 |
5.4e1 |
SMART |
ZnF_C2H2
|
471 |
493 |
1.3e-4 |
SMART |
ZnF_C2H2
|
499 |
521 |
4.24e-4 |
SMART |
ZnF_C2H2
|
527 |
549 |
1.95e-3 |
SMART |
ZnF_C2H2
|
555 |
577 |
2.09e-3 |
SMART |
ZnF_C2H2
|
583 |
605 |
1.2e-3 |
SMART |
ZnF_C2H2
|
611 |
633 |
1.79e-2 |
SMART |
ZnF_C2H2
|
639 |
661 |
2.53e-2 |
SMART |
ZnF_C2H2
|
667 |
689 |
2.09e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144089
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147631
|
SMART Domains |
Protein: ENSMUSP00000122236 Gene: ENSMUSG00000023284
Domain | Start | End | E-Value | Type |
KRAB
|
6 |
66 |
3.75e-28 |
SMART |
|
Meta Mutation Damage Score |
0.8922 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd6 |
G |
T |
1: 155,562,827 (GRCm39) |
R276L |
probably benign |
Het |
Bahcc1 |
G |
A |
11: 120,150,027 (GRCm39) |
R103Q |
probably damaging |
Het |
Cd101 |
G |
A |
3: 100,920,630 (GRCm39) |
T423M |
possibly damaging |
Het |
Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
Cntn3 |
T |
C |
6: 102,176,312 (GRCm39) |
E801G |
probably damaging |
Het |
Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
Enam |
T |
C |
5: 88,651,407 (GRCm39) |
L972P |
probably damaging |
Het |
Espl1 |
C |
A |
15: 102,228,039 (GRCm39) |
T1630N |
probably benign |
Het |
Fra10ac1 |
A |
G |
19: 38,188,053 (GRCm39) |
S248P |
probably benign |
Het |
Grik1 |
T |
C |
16: 87,754,431 (GRCm39) |
R385G |
probably damaging |
Het |
Gtpbp8 |
T |
A |
16: 44,566,560 (GRCm39) |
|
probably null |
Het |
Kif23 |
C |
T |
9: 61,839,396 (GRCm39) |
V284M |
probably damaging |
Het |
Klhdc7a |
A |
G |
4: 139,693,588 (GRCm39) |
V453A |
possibly damaging |
Het |
Klhl35 |
G |
A |
7: 99,122,926 (GRCm39) |
V517M |
probably benign |
Het |
Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
Milr1 |
T |
C |
11: 106,654,708 (GRCm39) |
S84P |
possibly damaging |
Het |
Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
Or12j5 |
A |
T |
7: 140,084,270 (GRCm39) |
L34* |
probably null |
Het |
Otog |
A |
T |
7: 45,923,613 (GRCm39) |
Q1082L |
probably damaging |
Het |
Pacsin1 |
G |
A |
17: 27,925,978 (GRCm39) |
V107I |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
Pigv |
T |
C |
4: 133,392,127 (GRCm39) |
T348A |
probably benign |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Rbm25 |
A |
G |
12: 83,721,947 (GRCm39) |
D711G |
probably damaging |
Het |
Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
Sec24a |
G |
T |
11: 51,605,976 (GRCm39) |
Q692K |
probably benign |
Het |
Sidt2 |
C |
T |
9: 45,857,011 (GRCm39) |
D205N |
possibly damaging |
Het |
Skint10 |
T |
C |
4: 112,626,968 (GRCm39) |
*113W |
probably null |
Het |
Tet3 |
T |
C |
6: 83,380,257 (GRCm39) |
E637G |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,464,605 (GRCm39) |
I562F |
probably benign |
Het |
Zfp593 |
T |
C |
4: 133,972,367 (GRCm39) |
T78A |
probably benign |
Het |
|
Other mutations in Zfp605 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02388:Zfp605
|
APN |
5 |
110,275,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0010:Zfp605
|
UTSW |
5 |
110,275,400 (GRCm39) |
missense |
probably benign |
0.03 |
R0357:Zfp605
|
UTSW |
5 |
110,272,245 (GRCm39) |
missense |
probably benign |
|
R0383:Zfp605
|
UTSW |
5 |
110,276,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R1017:Zfp605
|
UTSW |
5 |
110,275,860 (GRCm39) |
missense |
probably benign |
0.42 |
R1663:Zfp605
|
UTSW |
5 |
110,275,451 (GRCm39) |
missense |
probably benign |
0.02 |
R1688:Zfp605
|
UTSW |
5 |
110,276,907 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1752:Zfp605
|
UTSW |
5 |
110,271,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Zfp605
|
UTSW |
5 |
110,275,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R2173:Zfp605
|
UTSW |
5 |
110,275,323 (GRCm39) |
missense |
probably benign |
0.00 |
R3740:Zfp605
|
UTSW |
5 |
110,276,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R3742:Zfp605
|
UTSW |
5 |
110,276,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R3981:Zfp605
|
UTSW |
5 |
110,275,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R4095:Zfp605
|
UTSW |
5 |
110,275,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Zfp605
|
UTSW |
5 |
110,275,227 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4914:Zfp605
|
UTSW |
5 |
110,275,567 (GRCm39) |
nonsense |
probably null |
|
R4994:Zfp605
|
UTSW |
5 |
110,275,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R6672:Zfp605
|
UTSW |
5 |
110,275,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6814:Zfp605
|
UTSW |
5 |
110,275,311 (GRCm39) |
missense |
probably benign |
0.00 |
R6872:Zfp605
|
UTSW |
5 |
110,275,311 (GRCm39) |
missense |
probably benign |
0.00 |
R7251:Zfp605
|
UTSW |
5 |
110,275,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R7395:Zfp605
|
UTSW |
5 |
110,259,885 (GRCm39) |
start gained |
probably benign |
|
R7560:Zfp605
|
UTSW |
5 |
110,275,157 (GRCm39) |
nonsense |
probably null |
|
R7623:Zfp605
|
UTSW |
5 |
110,275,386 (GRCm39) |
missense |
probably benign |
0.03 |
R7965:Zfp605
|
UTSW |
5 |
110,275,316 (GRCm39) |
missense |
probably benign |
0.00 |
R7999:Zfp605
|
UTSW |
5 |
110,276,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R8307:Zfp605
|
UTSW |
5 |
110,276,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R8355:Zfp605
|
UTSW |
5 |
110,259,848 (GRCm39) |
start gained |
probably benign |
|
R8455:Zfp605
|
UTSW |
5 |
110,259,848 (GRCm39) |
start gained |
probably benign |
|
X0063:Zfp605
|
UTSW |
5 |
110,271,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTTATGGCTTTGAAGAAGTCTTTT -3'
(R):5'- TCTGATAAGGTGTGACTTCTTGTTGA -3'
Sequencing Primer
(F):5'- ACATTCCCTGGAAGGTCATCG -3'
(R):5'- AAGTATAAGGTCTCTCTCCCGTATGG -3'
|
Posted On |
2015-07-07 |