Incidental Mutation 'R6403:Zfp617'
| ID |
516218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp617
|
| Ensembl Gene |
ENSMUSG00000066880 |
| Gene Name |
zinc finger protein 617 |
| Synonyms |
Zfps11-6, Zinc finger protein s11-6 |
| MMRRC Submission |
044382-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R6403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72676669-72688474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72683015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 55
(A55V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119003]
[ENSMUST00000131544]
|
| AlphaFold |
Q91WM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119003
AA Change: A55V
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112926
Gene: ENSMUSG00000066880
AA Change: A55V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
56 |
1.08e-10 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
195 |
217 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
363 |
385 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
391 |
413 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
419 |
441 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
447 |
469 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
475 |
497 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
503 |
525 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
531 |
553 |
4.98e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131544
AA Change: A55V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000120213
Gene: ENSMUSG00000066880
AA Change: A55V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
56 |
1.08e-10 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
195 |
217 |
8.34e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,768,881 (GRCm39) |
D227G |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,594 (GRCm39) |
I623V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,538 (GRCm39) |
R317* |
probably null |
Het |
| Carmil1 |
G |
A |
13: 24,265,950 (GRCm39) |
R271C |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,562,901 (GRCm39) |
L323* |
probably null |
Het |
| Copb1 |
T |
A |
7: 113,837,686 (GRCm39) |
I286F |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,689,691 (GRCm39) |
V285D |
probably damaging |
Het |
| Dok5 |
G |
T |
2: 170,671,820 (GRCm39) |
A79S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,727,160 (GRCm39) |
N557S |
probably damaging |
Het |
| Hexa |
G |
A |
9: 59,464,644 (GRCm39) |
R178H |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,840,971 (GRCm39) |
S35P |
probably damaging |
Het |
| Il3ra |
G |
T |
14: 14,347,137 (GRCm38) |
A3S |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,304,624 (GRCm39) |
|
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,485 (GRCm39) |
S420R |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,975,045 (GRCm39) |
N293S |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,647,269 (GRCm39) |
I235T |
possibly damaging |
Het |
| Ncbp3 |
A |
G |
11: 72,969,802 (GRCm39) |
T550A |
probably benign |
Het |
| Nckipsd |
G |
T |
9: 108,688,882 (GRCm39) |
R139L |
possibly damaging |
Het |
| Nxn |
A |
G |
11: 76,289,846 (GRCm39) |
V14A |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,538 (GRCm39) |
L22P |
probably damaging |
Het |
| Pramel22 |
G |
A |
4: 143,382,343 (GRCm39) |
Q118* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,399 (GRCm39) |
C668F |
possibly damaging |
Het |
| Tmem87a |
A |
T |
2: 120,211,252 (GRCm39) |
M231K |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,999,128 (GRCm39) |
V333A |
probably benign |
Het |
| Trit1 |
C |
A |
4: 122,933,372 (GRCm39) |
T103K |
possibly damaging |
Het |
| Tspan13 |
A |
G |
12: 36,065,704 (GRCm39) |
F203S |
probably damaging |
Het |
| Vmn2r114 |
C |
T |
17: 23,528,939 (GRCm39) |
D388N |
probably damaging |
Het |
|
| Other mutations in Zfp617 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Zfp617
|
APN |
8 |
72,686,386 (GRCm39) |
nonsense |
probably null |
|
|
R2116:Zfp617
|
UTSW |
8 |
72,686,009 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3840:Zfp617
|
UTSW |
8 |
72,685,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:Zfp617
|
UTSW |
8 |
72,685,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4587:Zfp617
|
UTSW |
8 |
72,683,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4691:Zfp617
|
UTSW |
8 |
72,686,659 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5264:Zfp617
|
UTSW |
8 |
72,686,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5783:Zfp617
|
UTSW |
8 |
72,686,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Zfp617
|
UTSW |
8 |
72,687,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Zfp617
|
UTSW |
8 |
72,687,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6890:Zfp617
|
UTSW |
8 |
72,686,010 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7124:Zfp617
|
UTSW |
8 |
72,686,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Zfp617
|
UTSW |
8 |
72,685,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7747:Zfp617
|
UTSW |
8 |
72,682,033 (GRCm39) |
splice site |
probably null |
|
|
R8907:Zfp617
|
UTSW |
8 |
72,686,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Zfp617
|
UTSW |
8 |
72,686,539 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCATCAATGCTGTTCTATGAC -3'
(R):5'- GTGAAACCTAAATGCAAACATACCTTG -3'
Sequencing Primer
(F):5'- CATCAATGCTGTTCTATGACTTAGGG -3'
(R):5'- GAATTACAGATGTTCAGTCAGTAGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation