Incidental Mutation 'R6929:Zfp663'
ID |
539888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp663
|
Ensembl Gene |
ENSMUSG00000056824 |
Gene Name |
zinc finger protein 663 |
Synonyms |
LOC381405, Gm1008 |
MMRRC Submission |
045007-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R6929 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
165193217-165210649 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 165195178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Arginine
at position 347
(P347R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099374
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073062]
[ENSMUST00000103085]
[ENSMUST00000141140]
|
AlphaFold |
Q6NXM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073062
AA Change: P347R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072813 Gene: ENSMUSG00000056824 AA Change: P347R
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.97e-31 |
SMART |
ZnF_C2H2
|
205 |
227 |
3.47e1 |
SMART |
ZnF_C2H2
|
472 |
494 |
2.4e-3 |
SMART |
ZnF_C2H2
|
500 |
522 |
2.99e-4 |
SMART |
ZnF_C2H2
|
528 |
550 |
2.43e-4 |
SMART |
ZnF_C2H2
|
556 |
578 |
4.79e-3 |
SMART |
ZnF_C2H2
|
584 |
606 |
3.95e-4 |
SMART |
ZnF_C2H2
|
612 |
635 |
8.6e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103085
AA Change: P347R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099374 Gene: ENSMUSG00000056824 AA Change: P347R
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.97e-31 |
SMART |
ZnF_C2H2
|
205 |
227 |
3.47e1 |
SMART |
ZnF_C2H2
|
472 |
494 |
2.4e-3 |
SMART |
ZnF_C2H2
|
500 |
522 |
2.99e-4 |
SMART |
ZnF_C2H2
|
528 |
550 |
2.43e-4 |
SMART |
ZnF_C2H2
|
556 |
578 |
4.79e-3 |
SMART |
ZnF_C2H2
|
584 |
606 |
3.95e-4 |
SMART |
ZnF_C2H2
|
612 |
635 |
8.6e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141140
|
SMART Domains |
Protein: ENSMUSP00000115254 Gene: ENSMUSG00000056824
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
1.97e-31 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
Validation Efficiency |
92% (35/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
A |
T |
2: 26,896,275 (GRCm39) |
R1223* |
probably null |
Het |
Adgrb3 |
A |
T |
1: 25,150,852 (GRCm39) |
L1127* |
probably null |
Het |
Ankrd17 |
A |
T |
5: 90,433,384 (GRCm39) |
V727D |
possibly damaging |
Het |
Ankub1 |
A |
T |
3: 57,572,854 (GRCm39) |
C289* |
probably null |
Het |
C2 |
T |
A |
17: 35,083,323 (GRCm39) |
I242F |
possibly damaging |
Het |
C2cd3 |
T |
C |
7: 100,100,826 (GRCm39) |
L653P |
probably damaging |
Het |
Cacna1b |
A |
G |
2: 24,522,022 (GRCm39) |
V1696A |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,244,358 (GRCm39) |
I1366T |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,769,573 (GRCm39) |
L2553P |
probably damaging |
Het |
Cited4 |
C |
A |
4: 120,524,244 (GRCm39) |
T82K |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,021,756 (GRCm39) |
M3470K |
probably damaging |
Het |
Exosc3 |
G |
T |
4: 45,320,482 (GRCm39) |
P37Q |
probably damaging |
Het |
Fam120b |
C |
A |
17: 15,643,290 (GRCm39) |
Q690K |
possibly damaging |
Het |
Fyb1 |
T |
C |
15: 6,668,388 (GRCm39) |
I527T |
probably damaging |
Het |
Gm32742 |
A |
G |
9: 51,065,579 (GRCm39) |
L459P |
probably benign |
Het |
Gm45861 |
A |
G |
8: 28,014,462 (GRCm39) |
D655G |
unknown |
Het |
Ifi203 |
A |
G |
1: 173,756,340 (GRCm39) |
|
probably benign |
Het |
Ifnar2 |
T |
A |
16: 91,190,766 (GRCm39) |
L93* |
probably null |
Het |
Kdr |
A |
G |
5: 76,138,764 (GRCm39) |
V22A |
probably benign |
Het |
Llgl1 |
C |
T |
11: 60,601,179 (GRCm39) |
Q706* |
probably null |
Het |
Lrrc9 |
A |
T |
12: 72,497,546 (GRCm39) |
K121N |
probably benign |
Het |
Lyst |
T |
C |
13: 13,917,909 (GRCm39) |
F3323S |
probably damaging |
Het |
Mc4r |
A |
G |
18: 66,992,253 (GRCm39) |
Y287H |
probably damaging |
Het |
Nlrp4e |
A |
C |
7: 23,036,156 (GRCm39) |
|
probably null |
Het |
Or52z12 |
A |
T |
7: 103,233,651 (GRCm39) |
I141F |
probably damaging |
Het |
Or8b42 |
A |
G |
9: 38,342,444 (GRCm39) |
I289V |
probably benign |
Het |
Pear1 |
T |
A |
3: 87,666,872 (GRCm39) |
K38* |
probably null |
Het |
Pik3c2g |
G |
A |
6: 139,903,502 (GRCm39) |
R585Q |
possibly damaging |
Het |
Prpf40a |
A |
G |
2: 53,034,875 (GRCm39) |
V771A |
possibly damaging |
Het |
Rnd3 |
G |
T |
2: 51,027,187 (GRCm39) |
D103E |
probably damaging |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Spats2l |
A |
T |
1: 57,918,695 (GRCm39) |
N43I |
probably damaging |
Het |
Tmem202 |
C |
A |
9: 59,426,504 (GRCm39) |
G221C |
probably benign |
Het |
Ubiad1 |
T |
C |
4: 148,528,579 (GRCm39) |
D110G |
probably damaging |
Het |
Ulk4 |
A |
T |
9: 120,903,081 (GRCm39) |
V1132D |
probably benign |
Het |
Vmn2r118 |
C |
T |
17: 55,917,440 (GRCm39) |
M357I |
probably benign |
Het |
|
Other mutations in Zfp663 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00720:Zfp663
|
APN |
2 |
165,194,525 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01382:Zfp663
|
APN |
2 |
165,200,935 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02007:Zfp663
|
APN |
2 |
165,200,993 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02164:Zfp663
|
APN |
2 |
165,200,968 (GRCm39) |
nonsense |
probably null |
|
IGL02506:Zfp663
|
APN |
2 |
165,195,871 (GRCm39) |
missense |
probably benign |
0.35 |
IGL03173:Zfp663
|
APN |
2 |
165,194,419 (GRCm39) |
missense |
probably damaging |
0.99 |
R0735:Zfp663
|
UTSW |
2 |
165,200,995 (GRCm39) |
missense |
probably damaging |
0.97 |
R1395:Zfp663
|
UTSW |
2 |
165,194,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R1402:Zfp663
|
UTSW |
2 |
165,195,890 (GRCm39) |
missense |
probably benign |
0.14 |
R1402:Zfp663
|
UTSW |
2 |
165,195,890 (GRCm39) |
missense |
probably benign |
0.14 |
R1503:Zfp663
|
UTSW |
2 |
165,194,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R1587:Zfp663
|
UTSW |
2 |
165,195,437 (GRCm39) |
missense |
probably benign |
|
R1854:Zfp663
|
UTSW |
2 |
165,195,211 (GRCm39) |
missense |
probably benign |
0.18 |
R1867:Zfp663
|
UTSW |
2 |
165,194,651 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3031:Zfp663
|
UTSW |
2 |
165,195,616 (GRCm39) |
nonsense |
probably null |
|
R4643:Zfp663
|
UTSW |
2 |
165,194,925 (GRCm39) |
missense |
probably benign |
0.24 |
R4691:Zfp663
|
UTSW |
2 |
165,201,050 (GRCm39) |
intron |
probably benign |
|
R4977:Zfp663
|
UTSW |
2 |
165,195,731 (GRCm39) |
missense |
probably damaging |
0.97 |
R5135:Zfp663
|
UTSW |
2 |
165,195,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5151:Zfp663
|
UTSW |
2 |
165,195,113 (GRCm39) |
missense |
probably benign |
0.00 |
R5639:Zfp663
|
UTSW |
2 |
165,194,929 (GRCm39) |
missense |
probably benign |
0.03 |
R5763:Zfp663
|
UTSW |
2 |
165,200,355 (GRCm39) |
nonsense |
probably null |
|
R6776:Zfp663
|
UTSW |
2 |
165,200,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R6998:Zfp663
|
UTSW |
2 |
165,195,922 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7035:Zfp663
|
UTSW |
2 |
165,195,023 (GRCm39) |
missense |
probably benign |
0.36 |
R7169:Zfp663
|
UTSW |
2 |
165,194,359 (GRCm39) |
missense |
probably benign |
0.00 |
R7529:Zfp663
|
UTSW |
2 |
165,194,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R7790:Zfp663
|
UTSW |
2 |
165,194,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R8087:Zfp663
|
UTSW |
2 |
165,195,679 (GRCm39) |
missense |
probably benign |
0.20 |
R8715:Zfp663
|
UTSW |
2 |
165,194,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R8934:Zfp663
|
UTSW |
2 |
165,194,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R8966:Zfp663
|
UTSW |
2 |
165,194,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R9257:Zfp663
|
UTSW |
2 |
165,195,974 (GRCm39) |
missense |
probably benign |
0.00 |
R9278:Zfp663
|
UTSW |
2 |
165,202,010 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9524:Zfp663
|
UTSW |
2 |
165,195,607 (GRCm39) |
missense |
probably damaging |
0.99 |
RF004:Zfp663
|
UTSW |
2 |
165,200,363 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Zfp663
|
UTSW |
2 |
165,195,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTCTCCCGTATTGACTGC -3'
(R):5'- CCTGTAAGGGAGAAACTCTGTG -3'
Sequencing Primer
(F):5'- CATCTCAGTTCCTTGCGGGAGAG -3'
(R):5'- TGGCATGCTTGAGAAACCC -3'
|
Posted On |
2018-11-06 |