Incidental Mutation 'R6093:Zfp109'
ID |
486039 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp109
|
Ensembl Gene |
ENSMUSG00000074283 |
Gene Name |
zinc finger protein 109 |
Synonyms |
|
MMRRC Submission |
044250-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R6093 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
23926997-23936985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 23928558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 292
(W292R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145925
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037448]
[ENSMUST00000206362]
[ENSMUST00000206960]
|
AlphaFold |
A0A0U1RPC5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037448
AA Change: W284R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000045498 Gene: ENSMUSG00000074283 AA Change: W284R
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: W284R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206960
AA Change: W292R
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
G |
2: 68,490,214 (GRCm39) |
|
probably benign |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adgrl3 |
A |
C |
5: 81,794,369 (GRCm39) |
R531S |
probably benign |
Het |
Ahctf1 |
T |
C |
1: 179,590,517 (GRCm39) |
D1252G |
probably benign |
Het |
Ano1 |
T |
C |
7: 144,165,114 (GRCm39) |
N648S |
possibly damaging |
Het |
Antxr2 |
C |
A |
5: 98,178,319 (GRCm39) |
L30F |
probably damaging |
Het |
Apol9a |
T |
A |
15: 77,288,620 (GRCm39) |
N249I |
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,046,093 (GRCm39) |
V977A |
probably damaging |
Het |
Clmn |
T |
C |
12: 104,738,215 (GRCm39) |
T968A |
probably benign |
Het |
Clstn2 |
A |
T |
9: 97,340,263 (GRCm39) |
I703N |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,475,522 (GRCm39) |
T1051A |
probably benign |
Het |
Csde1 |
A |
G |
3: 102,960,218 (GRCm39) |
Y615C |
probably damaging |
Het |
Dcaf17 |
A |
G |
2: 70,912,356 (GRCm39) |
K314E |
possibly damaging |
Het |
Dnah10 |
A |
T |
5: 124,830,238 (GRCm39) |
I711F |
probably benign |
Het |
Duox1 |
G |
T |
2: 122,177,755 (GRCm39) |
R1513L |
probably benign |
Het |
Exph5 |
A |
G |
9: 53,283,917 (GRCm39) |
T333A |
possibly damaging |
Het |
Fmnl2 |
A |
G |
2: 53,004,880 (GRCm39) |
D658G |
probably damaging |
Het |
Gcgr |
T |
A |
11: 120,428,947 (GRCm39) |
L395Q |
probably damaging |
Het |
Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Greb1 |
C |
T |
12: 16,734,487 (GRCm39) |
C1501Y |
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,765,471 (GRCm39) |
V1533A |
probably damaging |
Het |
Kcnc3 |
A |
C |
7: 44,240,932 (GRCm39) |
D208A |
probably benign |
Het |
Kctd14 |
A |
G |
7: 97,104,160 (GRCm39) |
|
probably benign |
Het |
Mcm5 |
C |
A |
8: 75,836,374 (GRCm39) |
D13E |
probably benign |
Het |
Med23 |
A |
G |
10: 24,754,341 (GRCm39) |
I221V |
probably benign |
Het |
Msantd5f6 |
T |
C |
4: 73,320,258 (GRCm39) |
I174V |
probably benign |
Het |
Myo19 |
T |
C |
11: 84,776,535 (GRCm39) |
F64L |
probably damaging |
Het |
Ncapd3 |
T |
G |
9: 26,967,454 (GRCm39) |
S597A |
probably damaging |
Het |
Neb |
A |
T |
2: 52,141,782 (GRCm39) |
Y72* |
probably null |
Het |
Nrip1 |
C |
T |
16: 76,091,652 (GRCm39) |
|
probably benign |
Het |
Or5h26 |
T |
A |
16: 58,988,330 (GRCm39) |
M59L |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,668,958 (GRCm39) |
D328E |
probably damaging |
Het |
Phyh |
G |
T |
2: 4,923,896 (GRCm39) |
A6S |
possibly damaging |
Het |
Pole |
A |
T |
5: 110,459,956 (GRCm39) |
Q1120L |
probably benign |
Het |
Rbmxl1 |
T |
C |
8: 79,232,572 (GRCm39) |
Y257C |
probably damaging |
Het |
Smurf2 |
A |
T |
11: 106,759,449 (GRCm39) |
H69Q |
possibly damaging |
Het |
Tmem167b |
A |
T |
3: 108,469,439 (GRCm39) |
M1K |
probably null |
Het |
Tmod4 |
A |
T |
3: 95,032,929 (GRCm39) |
T22S |
probably benign |
Het |
Triml1 |
T |
C |
8: 43,593,755 (GRCm39) |
I149M |
probably benign |
Het |
Vmn2r108 |
T |
C |
17: 20,701,402 (GRCm39) |
T33A |
probably benign |
Het |
Vmn2r76 |
T |
A |
7: 85,877,469 (GRCm39) |
R525* |
probably null |
Het |
Zfp292 |
C |
T |
4: 34,811,902 (GRCm39) |
A381T |
probably damaging |
Het |
Zfp791 |
C |
T |
8: 85,840,135 (GRCm39) |
|
probably null |
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 |
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 |
R6879:Zfp109
|
UTSW |
7 |
23,928,615 (GRCm39) |
missense |
probably benign |
0.02 |
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'- AGGCTGAAGTGAAACCCTTCC -3'
(R):5'- CCCGCATCATGTTTACACAGAAAG -3'
Sequencing Primer
(F):5'- ACACACGTGGCATTTGTACG -3'
(R):5'- TCATGTTTACACAGAAAGAAAGTCC -3'
|
Posted On |
2017-08-16 |