Incidental Mutation 'R7314:Zfp369'
ID |
567839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp369
|
Ensembl Gene |
ENSMUSG00000021514 |
Gene Name |
zinc finger protein 369 |
Synonyms |
B930030B22Rik, NRIF2, D230020H11Rik |
MMRRC Submission |
045412-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R7314 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
65426628-65452035 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65439918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 201
(S201P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126879]
[ENSMUST00000130799]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126879
AA Change: S201P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119114 Gene: ENSMUSG00000021514 AA Change: S201P
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 damaging
Transcript: ENSMUST00000130799
AA Change: S201P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116221 Gene: ENSMUSG00000021514 AA Change: S201P
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 |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
G |
A |
7: 29,989,320 (GRCm39) |
V177I |
unknown |
Het |
4930596D02Rik |
A |
G |
14: 35,533,606 (GRCm39) |
V54A |
probably benign |
Het |
Abcc10 |
C |
A |
17: 46,626,330 (GRCm39) |
A704S |
probably damaging |
Het |
Adss2 |
A |
G |
1: 177,595,317 (GRCm39) |
W408R |
probably damaging |
Het |
Aplp1 |
T |
C |
7: 30,135,414 (GRCm39) |
E548G |
probably damaging |
Het |
C4b |
C |
T |
17: 34,959,330 (GRCm39) |
V415I |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,706,343 (GRCm39) |
V942A |
probably damaging |
Het |
Cstf1 |
A |
G |
2: 172,214,954 (GRCm39) |
D25G |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,612,819 (GRCm39) |
|
probably null |
Het |
Dnah9 |
G |
A |
11: 65,880,677 (GRCm39) |
T2640I |
probably benign |
Het |
Dnase2b |
T |
C |
3: 146,288,151 (GRCm39) |
I315V |
probably damaging |
Het |
Endod1 |
T |
C |
9: 14,268,295 (GRCm39) |
S397G |
probably benign |
Het |
Eps8 |
A |
G |
6: 137,504,090 (GRCm39) |
V171A |
possibly damaging |
Het |
Ghdc |
T |
C |
11: 100,659,928 (GRCm39) |
E273G |
probably damaging |
Het |
Hmgn2-ps |
C |
T |
8: 73,058,839 (GRCm39) |
G63R |
probably damaging |
Het |
Hspbap1 |
T |
A |
16: 35,645,541 (GRCm39) |
S409T |
probably benign |
Het |
Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
Jph4 |
TCCATTCTCGTATACCCCA |
TCCA |
14: 55,347,196 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
A |
G |
16: 19,775,755 (GRCm39) |
Y268H |
probably damaging |
Het |
Krt16 |
T |
C |
11: 100,138,695 (GRCm39) |
D197G |
probably damaging |
Het |
Lca5 |
T |
C |
9: 83,277,563 (GRCm39) |
K594E |
possibly damaging |
Het |
Lgi3 |
T |
C |
14: 70,769,552 (GRCm39) |
F84S |
probably damaging |
Het |
Lingo3 |
T |
C |
10: 80,670,707 (GRCm39) |
I408V |
possibly damaging |
Het |
Map3k7 |
G |
T |
4: 31,985,769 (GRCm39) |
E231* |
probably null |
Het |
Nrip1 |
A |
G |
16: 76,088,078 (GRCm39) |
S1160P |
probably benign |
Het |
Oas1g |
A |
T |
5: 121,016,526 (GRCm39) |
L301Q |
probably damaging |
Het |
Obox3 |
T |
A |
7: 15,361,079 (GRCm39) |
Q62L |
possibly damaging |
Het |
Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
Or6b13 |
A |
T |
7: 139,782,326 (GRCm39) |
V119D |
probably damaging |
Het |
Parp8 |
G |
T |
13: 117,004,996 (GRCm39) |
F727L |
probably benign |
Het |
Pcdha1 |
T |
C |
18: 37,064,553 (GRCm39) |
Y406H |
probably damaging |
Het |
Pcdhgb8 |
A |
G |
18: 37,896,052 (GRCm39) |
D374G |
probably damaging |
Het |
Pdzd8 |
A |
T |
19: 59,289,783 (GRCm39) |
L539* |
probably null |
Het |
Phkb |
A |
G |
8: 86,669,021 (GRCm39) |
|
probably null |
Het |
Ppp1r13b |
T |
C |
12: 111,812,790 (GRCm39) |
E143G |
probably damaging |
Het |
Rpap2 |
T |
C |
5: 107,768,245 (GRCm39) |
V361A |
probably damaging |
Het |
Setd4 |
T |
C |
16: 93,384,711 (GRCm39) |
T326A |
probably benign |
Het |
Smad9 |
A |
G |
3: 54,696,744 (GRCm39) |
N270D |
probably benign |
Het |
Sntg2 |
A |
G |
12: 30,317,107 (GRCm39) |
S172P |
probably benign |
Het |
Tecpr1 |
A |
G |
5: 144,154,150 (GRCm39) |
L101P |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Tmprss11f |
T |
C |
5: 86,671,912 (GRCm39) |
T427A |
possibly damaging |
Het |
Trhr2 |
A |
G |
8: 123,085,489 (GRCm39) |
V165A |
possibly damaging |
Het |
Ubr3 |
T |
A |
2: 69,821,944 (GRCm39) |
L1402Q |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,850,622 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R7886:Zfp369
|
UTSW |
13 |
65,439,868 (GRCm39) |
missense |
possibly damaging |
0.95 |
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'- CATTGAACAAGGATATGGCTGGTC -3'
(R):5'- TCACCATCGTCCTTAGACACTG -3'
Sequencing Primer
(F):5'- ATATGGCTGGTCCCCGGAATG -3'
(R):5'- ATCGTCCTTAGACACTGAGGTC -3'
|
Posted On |
2019-06-26 |