Incidental Mutation 'R6879:Zfp109'
ID |
536555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp109
|
Ensembl Gene |
ENSMUSG00000074283 |
Gene Name |
zinc finger protein 109 |
Synonyms |
|
MMRRC Submission |
044975-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R6879 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
23926997-23936985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 23928615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 265
(E265K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037448]
[ENSMUST00000206362]
[ENSMUST00000206960]
|
AlphaFold |
A0A0U1RPC5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037448
AA Change: E265K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000045498 Gene: ENSMUSG00000074283 AA Change: E265K
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
74 |
8.77e-20 |
SMART |
ZnF_C2H2
|
283 |
305 |
2.91e-2 |
SMART |
ZnF_C2H2
|
311 |
333 |
4.47e-3 |
SMART |
ZnF_C2H2
|
339 |
361 |
4.11e-2 |
SMART |
ZnF_C2H2
|
367 |
387 |
5.54e1 |
SMART |
ZnF_C2H2
|
393 |
415 |
1.98e-4 |
SMART |
ZnF_C2H2
|
421 |
443 |
8.67e-1 |
SMART |
ZnF_C2H2
|
449 |
471 |
4.87e-4 |
SMART |
ZnF_C2H2
|
477 |
499 |
7.49e-5 |
SMART |
ZnF_C2H2
|
505 |
527 |
1.47e-3 |
SMART |
ZnF_C2H2
|
533 |
555 |
3.21e-4 |
SMART |
ZnF_C2H2
|
561 |
583 |
8.47e-4 |
SMART |
ZnF_C2H2
|
589 |
611 |
2.57e-3 |
SMART |
ZnF_C2H2
|
617 |
639 |
4.4e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206362
AA Change: E265K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206960
AA Change: E273K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat3 |
A |
G |
10: 80,442,621 (GRCm39) |
D153G |
probably damaging |
Het |
Agap1 |
A |
T |
1: 89,694,177 (GRCm39) |
I492F |
probably benign |
Het |
Arhgap31 |
G |
A |
16: 38,422,676 (GRCm39) |
T1130I |
probably benign |
Het |
Atg2a |
T |
A |
19: 6,301,882 (GRCm39) |
C923S |
possibly damaging |
Het |
B3gnt8 |
C |
A |
7: 25,328,277 (GRCm39) |
Q236K |
probably benign |
Het |
Bptf |
T |
G |
11: 106,933,516 (GRCm39) |
I261L |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,043,697 (GRCm39) |
F1592S |
probably benign |
Het |
Catspere2 |
A |
T |
1: 177,926,338 (GRCm39) |
T335S |
possibly damaging |
Het |
Cops7a |
A |
T |
6: 124,935,748 (GRCm39) |
|
probably null |
Het |
Defb10 |
A |
G |
8: 22,351,898 (GRCm39) |
I48V |
probably benign |
Het |
Gabrg3 |
A |
C |
7: 57,031,387 (GRCm39) |
L51R |
probably damaging |
Het |
Gins2 |
G |
A |
8: 121,312,850 (GRCm39) |
T96M |
probably damaging |
Het |
Gm11568 |
A |
G |
11: 99,749,053 (GRCm39) |
Q86R |
unknown |
Het |
Il33 |
T |
C |
19: 29,936,362 (GRCm39) |
V224A |
probably damaging |
Het |
Kcnh3 |
C |
A |
15: 99,136,048 (GRCm39) |
Q682K |
probably damaging |
Het |
Kif19a |
A |
G |
11: 114,672,159 (GRCm39) |
I249V |
probably benign |
Het |
Kif26a |
T |
C |
12: 112,144,087 (GRCm39) |
V1447A |
probably benign |
Het |
Klhdc10 |
T |
A |
6: 30,449,589 (GRCm39) |
M217K |
probably damaging |
Het |
Mcc |
T |
C |
18: 44,945,179 (GRCm39) |
S18G |
unknown |
Het |
Mical1 |
A |
T |
10: 41,360,515 (GRCm39) |
Q651H |
probably damaging |
Het |
Mpdz |
G |
A |
4: 81,266,893 (GRCm39) |
T340I |
possibly damaging |
Het |
Or5b95 |
T |
C |
19: 12,658,135 (GRCm39) |
I221T |
probably benign |
Het |
Or6c202 |
T |
G |
10: 128,996,848 (GRCm39) |
K2Q |
probably benign |
Het |
Pira12 |
A |
T |
7: 3,899,961 (GRCm39) |
S214T |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,187,793 (GRCm39) |
M105L |
possibly damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,518,179 (GRCm39) |
|
probably null |
Het |
Samd12 |
T |
C |
15: 53,521,826 (GRCm39) |
N128S |
probably benign |
Het |
Six6 |
A |
G |
12: 72,987,298 (GRCm39) |
K157E |
probably benign |
Het |
Slc13a3 |
C |
A |
2: 165,272,221 (GRCm39) |
G274V |
probably damaging |
Het |
Slc25a54 |
T |
A |
3: 109,020,150 (GRCm39) |
V388E |
possibly damaging |
Het |
Smad2 |
A |
G |
18: 76,395,725 (GRCm39) |
T55A |
possibly damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spats2 |
T |
C |
15: 99,071,293 (GRCm39) |
V39A |
probably damaging |
Het |
Stk32b |
A |
G |
5: 37,647,867 (GRCm39) |
I167T |
possibly damaging |
Het |
Taf1b |
T |
A |
12: 24,550,516 (GRCm39) |
C34S |
possibly damaging |
Het |
Tex2 |
T |
C |
11: 106,424,836 (GRCm39) |
E812G |
unknown |
Het |
Tlcd2 |
T |
A |
11: 75,360,514 (GRCm39) |
W186R |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,803,922 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,239,271 (GRCm39) |
K1387R |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,115,046 (GRCm39) |
|
probably null |
Het |
Usp21 |
T |
C |
1: 171,110,077 (GRCm39) |
D538G |
probably damaging |
Het |
Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
probably damaging |
Het |
|
Other mutations in Zfp109 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00646:Zfp109
|
APN |
7 |
23,928,237 (GRCm39) |
nonsense |
probably null |
|
IGL01082:Zfp109
|
APN |
7 |
23,933,784 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02129:Zfp109
|
APN |
7 |
23,936,054 (GRCm39) |
missense |
possibly damaging |
0.76 |
PIT4585001:Zfp109
|
UTSW |
7 |
23,928,779 (GRCm39) |
missense |
probably benign |
0.35 |
R0319:Zfp109
|
UTSW |
7 |
23,933,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R1502:Zfp109
|
UTSW |
7 |
23,927,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Zfp109
|
UTSW |
7 |
23,927,676 (GRCm39) |
missense |
probably damaging |
0.97 |
R1930:Zfp109
|
UTSW |
7 |
23,928,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Zfp109
|
UTSW |
7 |
23,928,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Zfp109
|
UTSW |
7 |
23,928,743 (GRCm39) |
missense |
probably benign |
0.04 |
R2105:Zfp109
|
UTSW |
7 |
23,936,041 (GRCm39) |
critical splice donor site |
probably null |
|
R2219:Zfp109
|
UTSW |
7 |
23,927,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R2353:Zfp109
|
UTSW |
7 |
23,928,806 (GRCm39) |
missense |
probably benign |
0.06 |
R3754:Zfp109
|
UTSW |
7 |
23,929,181 (GRCm39) |
missense |
probably benign |
0.34 |
R4434:Zfp109
|
UTSW |
7 |
23,928,771 (GRCm39) |
missense |
probably benign |
0.02 |
R4884:Zfp109
|
UTSW |
7 |
23,928,570 (GRCm39) |
missense |
probably benign |
0.06 |
R5056:Zfp109
|
UTSW |
7 |
23,928,162 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5220:Zfp109
|
UTSW |
7 |
23,928,179 (GRCm39) |
missense |
probably benign |
0.03 |
R5472:Zfp109
|
UTSW |
7 |
23,928,046 (GRCm39) |
nonsense |
probably null |
|
R5715:Zfp109
|
UTSW |
7 |
23,928,995 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5801:Zfp109
|
UTSW |
7 |
23,928,126 (GRCm39) |
missense |
probably damaging |
0.99 |
R6092:Zfp109
|
UTSW |
7 |
23,928,978 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6093:Zfp109
|
UTSW |
7 |
23,928,558 (GRCm39) |
missense |
probably benign |
0.03 |
R6334:Zfp109
|
UTSW |
7 |
23,928,308 (GRCm39) |
missense |
probably damaging |
0.96 |
R6458:Zfp109
|
UTSW |
7 |
23,927,870 (GRCm39) |
missense |
probably benign |
0.01 |
R6856:Zfp109
|
UTSW |
7 |
23,928,823 (GRCm39) |
missense |
probably benign |
0.03 |
R7069:Zfp109
|
UTSW |
7 |
23,928,785 (GRCm39) |
missense |
probably benign |
0.01 |
R7151:Zfp109
|
UTSW |
7 |
23,929,231 (GRCm39) |
missense |
probably benign |
0.01 |
R7822:Zfp109
|
UTSW |
7 |
23,928,570 (GRCm39) |
missense |
probably benign |
0.06 |
R8205:Zfp109
|
UTSW |
7 |
23,928,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R8492:Zfp109
|
UTSW |
7 |
23,927,499 (GRCm39) |
missense |
possibly damaging |
0.79 |
Z1088:Zfp109
|
UTSW |
7 |
23,928,360 (GRCm39) |
missense |
probably benign |
0.08 |
Z1177:Zfp109
|
UTSW |
7 |
23,928,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGCTGAAGTGAAACCCTTC -3'
(R):5'- GCCAGAGCAACAGTGACTTTG -3'
Sequencing Primer
(F):5'- ACACACGTGGCATTTGTACG -3'
(R):5'- CAGAGCAACAGTGACTTTGATAAAC -3'
|
Posted On |
2018-10-18 |