Incidental Mutation 'R2353:Zfp109'
| ID |
246254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp109
|
| Ensembl Gene |
ENSMUSG00000074283 |
| Gene Name |
zinc finger protein 109 |
| Synonyms |
|
| MMRRC Submission |
040335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R2353 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23926997-23936985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23928806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 201
(D201G)
|
| 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: D201G
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000045498
Gene: ENSMUSG00000074283
AA Change: D201G
| 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: D201G
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206960
AA Change: D209G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Meta Mutation Damage Score |
0.1035 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
T |
4: 144,349,779 (GRCm39) |
E345D |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,742,537 (GRCm39) |
Q692L |
probably benign |
Het |
| Ankk1 |
A |
C |
9: 49,329,990 (GRCm39) |
C322G |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Apeh |
T |
C |
9: 107,963,491 (GRCm39) |
D577G |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,405,435 (GRCm39) |
W1441R |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cd163 |
G |
T |
6: 124,296,115 (GRCm39) |
E820* |
probably null |
Het |
| Cd38 |
T |
A |
5: 44,065,353 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Enpp1 |
C |
A |
10: 24,527,239 (GRCm39) |
Q649H |
probably benign |
Het |
| Garnl3 |
T |
A |
2: 32,954,046 (GRCm39) |
R86S |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,233,909 (GRCm39) |
|
probably null |
Het |
| Gm5117 |
A |
G |
8: 32,229,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1 |
A |
T |
5: 135,441,566 (GRCm39) |
V568E |
probably damaging |
Het |
| Hspa14 |
G |
A |
2: 3,512,213 (GRCm39) |
|
probably null |
Het |
| Lrrc4 |
A |
G |
6: 28,831,451 (GRCm39) |
F55L |
probably benign |
Het |
| Med31 |
T |
A |
11: 72,104,966 (GRCm39) |
N35I |
probably damaging |
Het |
| Msi1 |
C |
A |
5: 115,574,568 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,660 (GRCm39) |
I179M |
probably benign |
Het |
| Or4b1 |
A |
T |
2: 89,980,062 (GRCm39) |
L96Q |
probably damaging |
Het |
| Parl |
T |
C |
16: 20,105,790 (GRCm39) |
T211A |
probably benign |
Het |
| Ppwd1 |
T |
C |
13: 104,350,090 (GRCm39) |
I432V |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,467,753 (GRCm39) |
I796F |
probably damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,886,951 (GRCm39) |
E380V |
probably damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,842,895 (GRCm39) |
D287G |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,450,780 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,160,984 (GRCm39) |
I2493T |
possibly damaging |
Het |
| Uts2 |
T |
A |
4: 151,084,593 (GRCm39) |
|
probably null |
Het |
| Zfp407 |
A |
G |
18: 84,578,005 (GRCm39) |
F1036S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,231,170 (GRCm39) |
E685G |
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 |
|
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 |
|
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'- AGCGCTTTGTTCCTGCATG -3'
(R):5'- AAATTTCTGTCTGGGATTGCTCAG -3'
Sequencing Primer
(F):5'- CCTGCATGAACACTCTTTTGAATGG -3'
(R):5'- CTGTCTGGGATTGCTCAGTGTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation