Incidental Mutation 'R7886:Zfp369'
| ID |
609078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp369
|
| Ensembl Gene |
ENSMUSG00000021514 |
| Gene Name |
zinc finger protein 369 |
| Synonyms |
B930030B22Rik, NRIF2, D230020H11Rik |
| MMRRC Submission |
045938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R7886 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65426628-65452035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65439868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 184
(K184R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126879]
[ENSMUST00000130799]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126879
AA Change: K184R
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119114
Gene: ENSMUSG00000021514
AA Change: K184R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
35 |
95 |
7.13e-20 |
SMART |
|
SCAN
|
178 |
289 |
2.57e-39 |
SMART |
|
KRAB
|
300 |
367 |
1.63e-14 |
SMART |
|
low complexity region
|
440 |
452 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
701 |
723 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
729 |
751 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
757 |
779 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
785 |
807 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
813 |
835 |
6.88e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130799
AA Change: K184R
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116221
Gene: ENSMUSG00000021514
AA Change: K184R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
35 |
95 |
7.13e-20 |
SMART |
|
SCAN
|
178 |
289 |
2.57e-39 |
SMART |
|
KRAB
|
300 |
354 |
3.54e-15 |
SMART |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
G |
6: 92,811,437 (GRCm39) |
I130S |
unknown |
Het |
| Ano5 |
A |
G |
7: 51,220,141 (GRCm39) |
H427R |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,989,532 (GRCm39) |
V182E |
probably damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,002,923 (GRCm39) |
Y147H |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,605,289 (GRCm39) |
S349G |
possibly damaging |
Het |
| Ccdc51 |
G |
T |
9: 108,920,655 (GRCm39) |
A181S |
probably damaging |
Het |
| Dcc |
G |
A |
18: 72,087,939 (GRCm39) |
Q100* |
probably null |
Het |
| Dchs2 |
A |
T |
3: 83,212,392 (GRCm39) |
I2064F |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,221,706 (GRCm39) |
V217I |
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,492,629 (GRCm39) |
F31I |
probably benign |
Het |
| Eftud2 |
C |
T |
11: 102,730,934 (GRCm39) |
R825H |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
| Fdx2 |
A |
T |
9: 20,984,623 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 82,934,643 (GRCm39) |
D106G |
possibly damaging |
Het |
| Gabrg3 |
G |
A |
7: 56,374,229 (GRCm39) |
R446W |
probably damaging |
Het |
| Get1 |
T |
A |
16: 95,946,768 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Gm42669 |
A |
G |
5: 107,656,572 (GRCm39) |
E362G |
|
Het |
| Hmcn1 |
A |
T |
1: 150,533,221 (GRCm39) |
I3022N |
possibly damaging |
Het |
| Ifna2 |
C |
A |
4: 88,601,506 (GRCm39) |
V171F |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,235,748 (GRCm39) |
N1478D |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,077,045 (GRCm39) |
D282E |
probably damaging |
Het |
| Klhdc2 |
G |
A |
12: 69,351,406 (GRCm39) |
|
probably null |
Het |
| Macrod2 |
G |
A |
2: 141,566,565 (GRCm39) |
G188S |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,843,128 (GRCm39) |
F186L |
possibly damaging |
Het |
| Mettl21a |
T |
C |
1: 64,654,343 (GRCm39) |
E58G |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,497,278 (GRCm39) |
C6625S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,382,689 (GRCm39) |
S7T |
probably benign |
Het |
| Nfs1 |
T |
A |
2: 155,983,981 (GRCm39) |
D132V |
unknown |
Het |
| Nlgn1 |
T |
C |
3: 25,490,071 (GRCm39) |
D552G |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,663,072 (GRCm39) |
T2066I |
probably benign |
Het |
| Or10k2 |
T |
C |
8: 84,268,576 (GRCm39) |
S268P |
possibly damaging |
Het |
| Or2t48 |
C |
A |
11: 58,419,880 (GRCm39) |
V311L |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,021 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,657 (GRCm39) |
Y217C |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,287,202 (GRCm39) |
|
probably null |
Het |
| Pde11a |
C |
T |
2: 76,121,547 (GRCm39) |
V345I |
probably benign |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,735 (GRCm39) |
S98P |
possibly damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,452,641 (GRCm39) |
Q643* |
probably null |
Het |
| Pold2 |
T |
C |
11: 5,822,714 (GRCm39) |
Y402C |
probably damaging |
Het |
| Pom121 |
T |
C |
5: 135,410,848 (GRCm39) |
T770A |
unknown |
Het |
| Pou4f1 |
A |
T |
14: 104,704,228 (GRCm39) |
V68E |
probably damaging |
Het |
| Ppfia1 |
G |
T |
7: 144,073,020 (GRCm39) |
Q265K |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,253,130 (GRCm39) |
|
probably null |
Het |
| Rdh19 |
A |
G |
10: 127,686,169 (GRCm39) |
T94A |
probably benign |
Het |
| Scgb1b12 |
A |
G |
7: 32,033,922 (GRCm39) |
T61A |
probably damaging |
Het |
| Sirpb1c |
C |
T |
3: 15,886,366 (GRCm39) |
A337T |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,009,746 (GRCm39) |
E381G |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,720,288 (GRCm39) |
I1304V |
probably damaging |
Het |
| Tpmt |
C |
A |
13: 47,193,638 (GRCm39) |
G54C |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,910,659 (GRCm39) |
Q905L |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,490 (GRCm39) |
N136K |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 8,108,733 (GRCm39) |
E138K |
probably benign |
Het |
| Zbed3 |
A |
G |
13: 95,472,633 (GRCm39) |
D19G |
possibly damaging |
Het |
|
| Other mutations in Zfp369 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Zfp369
|
APN |
13 |
65,445,074 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01393:Zfp369
|
APN |
13 |
65,442,288 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02277:Zfp369
|
APN |
13 |
65,432,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02986:Zfp369
|
APN |
13 |
65,428,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02992:Zfp369
|
APN |
13 |
65,442,265 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03170:Zfp369
|
APN |
13 |
65,442,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03351:Zfp369
|
APN |
13 |
65,443,967 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0136:Zfp369
|
UTSW |
13 |
65,445,016 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0600:Zfp369
|
UTSW |
13 |
65,444,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0646:Zfp369
|
UTSW |
13 |
65,445,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1190:Zfp369
|
UTSW |
13 |
65,440,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1191:Zfp369
|
UTSW |
13 |
65,439,776 (GRCm39) |
nonsense |
probably null |
|
|
R1528:Zfp369
|
UTSW |
13 |
65,439,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Zfp369
|
UTSW |
13 |
65,444,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Zfp369
|
UTSW |
13 |
65,444,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4386:Zfp369
|
UTSW |
13 |
65,444,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4928:Zfp369
|
UTSW |
13 |
65,444,614 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5127:Zfp369
|
UTSW |
13 |
65,426,847 (GRCm39) |
start gained |
probably benign |
|
|
R5549:Zfp369
|
UTSW |
13 |
65,445,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5740:Zfp369
|
UTSW |
13 |
65,444,581 (GRCm39) |
missense |
probably benign |
|
|
R5743:Zfp369
|
UTSW |
13 |
65,443,494 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5840:Zfp369
|
UTSW |
13 |
65,445,092 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6351:Zfp369
|
UTSW |
13 |
65,444,044 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7248:Zfp369
|
UTSW |
13 |
65,443,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7288:Zfp369
|
UTSW |
13 |
65,432,832 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7314:Zfp369
|
UTSW |
13 |
65,439,918 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7470:Zfp369
|
UTSW |
13 |
65,439,960 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7508:Zfp369
|
UTSW |
13 |
65,427,087 (GRCm39) |
missense |
unknown |
|
|
R7796:Zfp369
|
UTSW |
13 |
65,444,029 (GRCm39) |
missense |
probably benign |
|
|
R8425:Zfp369
|
UTSW |
13 |
65,444,489 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8671:Zfp369
|
UTSW |
13 |
65,444,095 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8868:Zfp369
|
UTSW |
13 |
65,445,082 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8918:Zfp369
|
UTSW |
13 |
65,443,529 (GRCm39) |
nonsense |
probably null |
|
|
R8921:Zfp369
|
UTSW |
13 |
65,444,044 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9201:Zfp369
|
UTSW |
13 |
65,444,396 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9236:Zfp369
|
UTSW |
13 |
65,445,010 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9443:Zfp369
|
UTSW |
13 |
65,444,347 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Zfp369
|
UTSW |
13 |
65,439,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCCTGAAATGAATTCCTTTCC -3'
(R):5'- TGCTGCGACTCTACCCATAC -3'
Sequencing Primer
(F):5'- TGCTGAGAGTCCCCTGATGAAG -3'
(R):5'- TACCCGAAGCTTCTCAGGCAATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation