Incidental Mutation 'R4198:Zfp316'
| ID |
318627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp316
|
| Ensembl Gene |
ENSMUSG00000046658 |
| Gene Name |
zinc finger protein 316 |
| Synonyms |
Emzf1 |
| MMRRC Submission |
041640-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R4198 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143235452-143255777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143240226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 598
(M598V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051665]
[ENSMUST00000161448]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051665
AA Change: M598V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000059418
Gene: ENSMUSG00000046658
AA Change: M598V
| 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 |
probably benign
Transcript: ENSMUST00000161448
AA Change: M598V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000125416
Gene: ENSMUSG00000046658
AA Change: M598V
| 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: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
G |
A |
1: 58,124,766 (GRCm39) |
M1002I |
probably benign |
Het |
| Ap2b1 |
C |
A |
11: 83,233,429 (GRCm39) |
Q481K |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,463,434 (GRCm39) |
D989G |
probably damaging |
Het |
| Ccny |
G |
A |
18: 9,332,928 (GRCm39) |
T201I |
probably damaging |
Het |
| Cdca5 |
T |
C |
19: 6,140,382 (GRCm39) |
V181A |
possibly damaging |
Het |
| Ces1g |
A |
G |
8: 94,032,496 (GRCm39) |
I488T |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,404,717 (GRCm39) |
T2368A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,315,702 (GRCm39) |
I1113F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Fyco1 |
T |
C |
9: 123,655,699 (GRCm39) |
N1020D |
probably benign |
Het |
| Gprc5c |
T |
G |
11: 114,754,686 (GRCm39) |
L121R |
probably damaging |
Het |
| Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
| Kera |
T |
C |
10: 97,448,835 (GRCm39) |
*352Q |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lnpk |
T |
C |
2: 74,399,453 (GRCm39) |
E30G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,025 (GRCm39) |
M79L |
probably benign |
Het |
| Or2y11 |
G |
A |
11: 49,443,461 (GRCm39) |
V296M |
possibly damaging |
Het |
| Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Ror2 |
A |
G |
13: 53,264,680 (GRCm39) |
M792T |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,948 (GRCm39) |
I339V |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Snx20 |
A |
G |
8: 89,354,226 (GRCm39) |
V168A |
possibly damaging |
Het |
| Sowaha |
T |
C |
11: 53,369,395 (GRCm39) |
E447G |
possibly damaging |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Stx19 |
G |
T |
16: 62,643,039 (GRCm39) |
C285F |
possibly damaging |
Het |
| Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
| Tbkbp1 |
C |
T |
11: 97,039,894 (GRCm39) |
|
probably null |
Het |
| Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
| Ttll12 |
T |
C |
15: 83,461,214 (GRCm39) |
N602D |
probably damaging |
Het |
| Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,685,125 (GRCm39) |
I165V |
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 |
|
|
R4004:Zfp316
|
UTSW |
5 |
143,240,874 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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'- AGCCGTACACGAAGCTCTTG -3'
(R):5'- TCCCAATGAGGTGGAGATGG -3'
Sequencing Primer
(F):5'- CATGCCTTGCAGGGAAAGC -3'
(R):5'- TAGCCACGGTGGAACCTGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation