Incidental Mutation 'R4200:Zfp26'
| ID |
318726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp26
|
| Ensembl Gene |
ENSMUSG00000063108 |
| Gene Name |
zinc finger protein 26 |
| Synonyms |
Zfp81-rs1, mkr-3, Zfp-26, KRAB15, 5033428C05Rik, Zfp70 |
| MMRRC Submission |
041030-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4200 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20339745-20371458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20348012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 851
(T851A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159569]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000075263
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159569
AA Change: T851A
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: T851A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
40 |
93 |
3e-6 |
BLAST |
|
KRAB
|
107 |
167 |
4.28e-32 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
344 |
366 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
372 |
394 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
2.65e-5 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
456 |
478 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
484 |
506 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
512 |
534 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
540 |
562 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
568 |
590 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
596 |
618 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
624 |
646 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
652 |
674 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
680 |
702 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
708 |
730 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
736 |
758 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
764 |
786 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
792 |
814 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
820 |
842 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
848 |
870 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
876 |
898 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
904 |
926 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
932 |
954 |
9.56e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,946,955 (GRCm39) |
Y218N |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,227,537 (GRCm39) |
E1214G |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
| Asxl1 |
C |
A |
2: 153,242,026 (GRCm39) |
L859I |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,019,791 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
C |
A |
1: 90,729,105 (GRCm39) |
V1279L |
probably benign |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Etl4 |
C |
A |
2: 20,786,694 (GRCm39) |
H481Q |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Gm3336 |
A |
T |
8: 71,173,261 (GRCm39) |
D91V |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,716,344 (GRCm39) |
V256G |
possibly damaging |
Het |
| Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
| Ifi203 |
A |
C |
1: 173,751,681 (GRCm39) |
I380S |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
| Mboat7 |
C |
A |
7: 3,688,752 (GRCm39) |
A259S |
possibly damaging |
Het |
| Mroh8 |
C |
T |
2: 157,083,730 (GRCm39) |
V381M |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,412,662 (GRCm39) |
C1869* |
probably null |
Het |
| Nfatc4 |
C |
T |
14: 56,069,489 (GRCm39) |
R672W |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,027,218 (GRCm39) |
I200T |
probably damaging |
Het |
| Olr1 |
A |
G |
6: 129,479,068 (GRCm39) |
V50A |
probably damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,035 (GRCm39) |
I277V |
possibly damaging |
Het |
| Pknox1 |
C |
A |
17: 31,818,584 (GRCm39) |
N272K |
probably benign |
Het |
| Psg23 |
T |
C |
7: 18,345,990 (GRCm39) |
D235G |
probably damaging |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Tgm2 |
C |
A |
2: 157,974,410 (GRCm39) |
R207L |
probably benign |
Het |
| Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
| Ttc24 |
T |
C |
3: 87,981,824 (GRCm39) |
T81A |
probably benign |
Het |
| Ttll1 |
A |
T |
15: 83,376,778 (GRCm39) |
I315N |
probably damaging |
Het |
| Ttll12 |
T |
C |
15: 83,461,214 (GRCm39) |
N602D |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,101 (GRCm39) |
V151E |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,797 (GRCm39) |
D390E |
probably benign |
Het |
| Zfp58 |
T |
G |
13: 67,639,440 (GRCm39) |
R350S |
probably benign |
Het |
|
| Other mutations in Zfp26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Zfp26
|
APN |
9 |
20,350,844 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02273:Zfp26
|
APN |
9 |
20,352,744 (GRCm39) |
missense |
probably damaging |
0.96 |
|
FR4449:Zfp26
|
UTSW |
9 |
20,349,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4548:Zfp26
|
UTSW |
9 |
20,349,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4737:Zfp26
|
UTSW |
9 |
20,349,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4976:Zfp26
|
UTSW |
9 |
20,349,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
LCD18:Zfp26
|
UTSW |
9 |
20,349,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0157:Zfp26
|
UTSW |
9 |
20,349,166 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1591:Zfp26
|
UTSW |
9 |
20,348,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1818:Zfp26
|
UTSW |
9 |
20,353,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1936:Zfp26
|
UTSW |
9 |
20,348,849 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2081:Zfp26
|
UTSW |
9 |
20,347,913 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2107:Zfp26
|
UTSW |
9 |
20,353,533 (GRCm39) |
missense |
probably benign |
|
|
R2240:Zfp26
|
UTSW |
9 |
20,348,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3429:Zfp26
|
UTSW |
9 |
20,352,756 (GRCm39) |
unclassified |
probably benign |
|
|
R3785:Zfp26
|
UTSW |
9 |
20,349,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Zfp26
|
UTSW |
9 |
20,353,525 (GRCm39) |
missense |
probably benign |
|
|
R4198:Zfp26
|
UTSW |
9 |
20,348,012 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4360:Zfp26
|
UTSW |
9 |
20,349,869 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4505:Zfp26
|
UTSW |
9 |
20,353,561 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5171:Zfp26
|
UTSW |
9 |
20,356,203 (GRCm39) |
missense |
probably benign |
|
|
R5412:Zfp26
|
UTSW |
9 |
20,349,535 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5493:Zfp26
|
UTSW |
9 |
20,355,615 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5576:Zfp26
|
UTSW |
9 |
20,348,803 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5652:Zfp26
|
UTSW |
9 |
20,349,137 (GRCm39) |
nonsense |
probably null |
|
|
R6089:Zfp26
|
UTSW |
9 |
20,348,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6332:Zfp26
|
UTSW |
9 |
20,348,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7599:Zfp26
|
UTSW |
9 |
20,349,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7713:Zfp26
|
UTSW |
9 |
20,352,630 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8460:Zfp26
|
UTSW |
9 |
20,348,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Zfp26
|
UTSW |
9 |
20,356,201 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8814:Zfp26
|
UTSW |
9 |
20,349,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9130:Zfp26
|
UTSW |
9 |
20,348,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Zfp26
|
UTSW |
9 |
20,349,447 (GRCm39) |
nonsense |
probably null |
|
|
R9432:Zfp26
|
UTSW |
9 |
20,347,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9587:Zfp26
|
UTSW |
9 |
20,348,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9719:Zfp26
|
UTSW |
9 |
20,347,861 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0065:Zfp26
|
UTSW |
9 |
20,348,187 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAAGTAGTGAAGTTTTCCC -3'
(R):5'- AAACTCTTCATCCCTTGAGACC -3'
Sequencing Primer
(F):5'- GCCTGAGTGCTCTGTAAAAGC -3'
(R):5'- TTTACGCAATCACACTGGGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation