Incidental Mutation 'R4004:Zfp316'
ID |
311388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp316
|
Ensembl Gene |
ENSMUSG00000046658 |
Gene Name |
zinc finger protein 316 |
Synonyms |
Emzf1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R4004 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
143235452-143255777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143240874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 382
(S382P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051665]
[ENSMUST00000161448]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051665
AA Change: S382P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000059418 Gene: ENSMUSG00000046658 AA Change: S382P
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
68 |
N/A |
INTRINSIC |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
low complexity region
|
134 |
147 |
N/A |
INTRINSIC |
KRAB
|
155 |
215 |
4.31e-37 |
SMART |
low complexity region
|
239 |
262 |
N/A |
INTRINSIC |
ZnF_C2H2
|
341 |
363 |
1.58e-3 |
SMART |
ZnF_C2H2
|
369 |
391 |
1.45e-2 |
SMART |
ZnF_C2H2
|
397 |
419 |
6.88e-4 |
SMART |
ZnF_C2H2
|
425 |
447 |
3.63e-3 |
SMART |
ZnF_C2H2
|
453 |
475 |
1.2e-3 |
SMART |
ZnF_C2H2
|
481 |
501 |
2.17e1 |
SMART |
low complexity region
|
524 |
558 |
N/A |
INTRINSIC |
low complexity region
|
568 |
584 |
N/A |
INTRINSIC |
low complexity region
|
649 |
664 |
N/A |
INTRINSIC |
low complexity region
|
691 |
707 |
N/A |
INTRINSIC |
ZnF_C2H2
|
708 |
730 |
1.2e-3 |
SMART |
ZnF_C2H2
|
736 |
758 |
3.58e-2 |
SMART |
ZnF_C2H2
|
764 |
786 |
1.45e-2 |
SMART |
ZnF_C2H2
|
792 |
814 |
1.99e0 |
SMART |
ZnF_C2H2
|
820 |
842 |
2.82e0 |
SMART |
ZnF_C2H2
|
848 |
870 |
7.9e-4 |
SMART |
ZnF_C2H2
|
876 |
898 |
1.45e-2 |
SMART |
ZnF_C2H2
|
904 |
926 |
9.88e-5 |
SMART |
ZnF_C2H2
|
932 |
954 |
2.09e-3 |
SMART |
low complexity region
|
964 |
990 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161448
AA Change: S382P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125416 Gene: ENSMUSG00000046658 AA Change: S382P
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
68 |
N/A |
INTRINSIC |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
low complexity region
|
134 |
147 |
N/A |
INTRINSIC |
KRAB
|
155 |
215 |
4.31e-37 |
SMART |
low complexity region
|
239 |
262 |
N/A |
INTRINSIC |
ZnF_C2H2
|
341 |
363 |
1.58e-3 |
SMART |
ZnF_C2H2
|
369 |
391 |
1.45e-2 |
SMART |
ZnF_C2H2
|
397 |
419 |
6.88e-4 |
SMART |
ZnF_C2H2
|
425 |
447 |
3.63e-3 |
SMART |
ZnF_C2H2
|
453 |
475 |
1.2e-3 |
SMART |
ZnF_C2H2
|
481 |
501 |
2.17e1 |
SMART |
low complexity region
|
524 |
558 |
N/A |
INTRINSIC |
low complexity region
|
568 |
584 |
N/A |
INTRINSIC |
low complexity region
|
649 |
664 |
N/A |
INTRINSIC |
low complexity region
|
691 |
707 |
N/A |
INTRINSIC |
ZnF_C2H2
|
708 |
730 |
1.2e-3 |
SMART |
ZnF_C2H2
|
736 |
758 |
3.58e-2 |
SMART |
ZnF_C2H2
|
764 |
786 |
1.45e-2 |
SMART |
ZnF_C2H2
|
792 |
814 |
1.99e0 |
SMART |
ZnF_C2H2
|
820 |
842 |
2.82e0 |
SMART |
ZnF_C2H2
|
848 |
870 |
7.9e-4 |
SMART |
ZnF_C2H2
|
876 |
898 |
1.45e-2 |
SMART |
ZnF_C2H2
|
904 |
926 |
9.88e-5 |
SMART |
ZnF_C2H2
|
932 |
954 |
2.09e-3 |
SMART |
low complexity region
|
964 |
990 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197349
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
C |
7: 78,750,435 (GRCm39) |
E1735D |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,990,242 (GRCm39) |
R788G |
probably damaging |
Het |
Atg9a |
T |
C |
1: 75,163,095 (GRCm39) |
Y335C |
probably damaging |
Het |
Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
Cblif |
T |
G |
19: 11,736,371 (GRCm39) |
V314G |
probably damaging |
Het |
Ces1d |
A |
T |
8: 93,904,720 (GRCm39) |
F340Y |
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,454,914 (GRCm39) |
Q320R |
probably benign |
Het |
Ctbp2 |
C |
A |
7: 132,593,502 (GRCm39) |
R733L |
probably benign |
Het |
Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
Dync2h1 |
C |
A |
9: 7,117,404 (GRCm39) |
C62F |
probably damaging |
Het |
F2 |
T |
C |
2: 91,458,741 (GRCm39) |
N523S |
possibly damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fcgr1 |
A |
G |
3: 96,191,668 (GRCm39) |
V380A |
probably benign |
Het |
Herc2 |
C |
A |
7: 55,756,213 (GRCm39) |
P751Q |
possibly damaging |
Het |
Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
Kctd3 |
A |
G |
1: 188,724,940 (GRCm39) |
S214P |
probably benign |
Het |
Lrpap1 |
T |
A |
5: 35,262,888 (GRCm39) |
K50* |
probably null |
Het |
Naa11 |
A |
T |
5: 97,539,652 (GRCm39) |
Y169N |
probably benign |
Het |
Nup42 |
T |
C |
5: 24,387,434 (GRCm39) |
I408T |
probably damaging |
Het |
Or1af1 |
A |
T |
2: 37,109,960 (GRCm39) |
H153L |
probably benign |
Het |
Or2t35 |
C |
T |
14: 14,408,152 (GRCm38) |
A308V |
probably benign |
Het |
Plxnc1 |
G |
A |
10: 94,630,459 (GRCm39) |
Q1512* |
probably null |
Het |
Ptpn14 |
A |
G |
1: 189,582,707 (GRCm39) |
N518S |
probably benign |
Het |
Rapgef5 |
A |
G |
12: 117,712,132 (GRCm39) |
I740V |
probably damaging |
Het |
Ric1 |
C |
T |
19: 29,557,201 (GRCm39) |
R429C |
probably benign |
Het |
Rpn2 |
T |
C |
2: 157,159,928 (GRCm39) |
L548P |
probably damaging |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Slc28a1 |
T |
C |
7: 80,818,786 (GRCm39) |
S580P |
probably damaging |
Het |
Slco6c1 |
A |
G |
1: 97,003,610 (GRCm39) |
Y496H |
probably damaging |
Het |
Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
Utp11 |
A |
T |
4: 124,576,230 (GRCm39) |
F138I |
probably damaging |
Het |
Vcp |
G |
A |
4: 42,983,028 (GRCm39) |
T606I |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
|
Other mutations in Zfp316 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01304:Zfp316
|
APN |
5 |
143,240,181 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01783:Zfp316
|
APN |
5 |
143,248,631 (GRCm39) |
missense |
unknown |
|
R0415:Zfp316
|
UTSW |
5 |
143,250,246 (GRCm39) |
missense |
unknown |
|
R0423:Zfp316
|
UTSW |
5 |
143,238,993 (GRCm39) |
missense |
probably damaging |
0.98 |
R1576:Zfp316
|
UTSW |
5 |
143,249,849 (GRCm39) |
missense |
unknown |
|
R1579:Zfp316
|
UTSW |
5 |
143,239,317 (GRCm39) |
missense |
probably damaging |
0.97 |
R1836:Zfp316
|
UTSW |
5 |
143,239,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R2058:Zfp316
|
UTSW |
5 |
143,249,161 (GRCm39) |
missense |
unknown |
|
R4198:Zfp316
|
UTSW |
5 |
143,240,226 (GRCm39) |
missense |
probably benign |
0.05 |
R4436:Zfp316
|
UTSW |
5 |
143,239,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Zfp316
|
UTSW |
5 |
143,239,169 (GRCm39) |
missense |
probably damaging |
0.98 |
R5579:Zfp316
|
UTSW |
5 |
143,250,246 (GRCm39) |
missense |
unknown |
|
R5642:Zfp316
|
UTSW |
5 |
143,249,846 (GRCm39) |
missense |
unknown |
|
R5701:Zfp316
|
UTSW |
5 |
143,240,132 (GRCm39) |
missense |
probably benign |
0.08 |
R5795:Zfp316
|
UTSW |
5 |
143,248,594 (GRCm39) |
missense |
unknown |
|
R5861:Zfp316
|
UTSW |
5 |
143,249,095 (GRCm39) |
missense |
unknown |
|
R5965:Zfp316
|
UTSW |
5 |
143,250,427 (GRCm39) |
splice site |
probably null |
|
R6414:Zfp316
|
UTSW |
5 |
143,240,639 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6547:Zfp316
|
UTSW |
5 |
143,239,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R6922:Zfp316
|
UTSW |
5 |
143,239,280 (GRCm39) |
missense |
probably damaging |
0.98 |
R7002:Zfp316
|
UTSW |
5 |
143,249,110 (GRCm39) |
missense |
unknown |
|
R7361:Zfp316
|
UTSW |
5 |
143,240,430 (GRCm39) |
missense |
probably benign |
0.01 |
R7414:Zfp316
|
UTSW |
5 |
143,250,407 (GRCm39) |
missense |
unknown |
|
R7693:Zfp316
|
UTSW |
5 |
143,249,167 (GRCm39) |
missense |
unknown |
|
R8749:Zfp316
|
UTSW |
5 |
143,248,565 (GRCm39) |
missense |
unknown |
|
R9368:Zfp316
|
UTSW |
5 |
143,250,046 (GRCm39) |
critical splice donor site |
probably null |
|
R9471:Zfp316
|
UTSW |
5 |
143,241,161 (GRCm39) |
missense |
unknown |
|
R9670:Zfp316
|
UTSW |
5 |
143,240,348 (GRCm39) |
missense |
possibly damaging |
0.86 |
X0022:Zfp316
|
UTSW |
5 |
143,240,811 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Zfp316
|
UTSW |
5 |
143,239,313 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCAGTGTAGACATGGGTAG -3'
(R):5'- AGAACTTTCTGGTGCCCTGG -3'
Sequencing Primer
(F):5'- TAGACATGGGTAGGGCCTCTC -3'
(R):5'- GGCATTTCCCGCAGTGG -3'
|
Posted On |
2015-04-29 |