Incidental Mutation 'R5576:Zfp26'
| ID |
437215 |
| 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 |
043131-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5576 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20339745-20371458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20348803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 587
(V587A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000159569
AA Change: V587A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: V587A
| 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: ENSMUST00000161248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
G |
A |
5: 109,885,570 (GRCm39) |
T96I |
probably benign |
Het |
| Add2 |
G |
T |
6: 86,084,457 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
C |
T |
7: 75,984,985 (GRCm39) |
T134M |
probably benign |
Het |
| Agfg1 |
T |
A |
1: 82,848,445 (GRCm39) |
S32T |
probably benign |
Het |
| Ankrd17 |
A |
C |
5: 90,391,083 (GRCm39) |
S2087A |
probably benign |
Het |
| Apob |
A |
T |
12: 8,048,662 (GRCm39) |
E1012V |
probably damaging |
Het |
| Baiap2 |
T |
A |
11: 119,887,737 (GRCm39) |
V297E |
probably benign |
Het |
| BC034090 |
T |
G |
1: 155,117,214 (GRCm39) |
K301N |
probably benign |
Het |
| Bhlha9 |
T |
C |
11: 76,563,595 (GRCm39) |
I74T |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,069,712 (GRCm39) |
H189R |
probably benign |
Het |
| Ccdc122 |
G |
A |
14: 77,329,317 (GRCm39) |
M123I |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,724,922 (GRCm39) |
|
probably null |
Het |
| Dnaja2 |
A |
T |
8: 86,266,033 (GRCm39) |
L351I |
possibly damaging |
Het |
| Efcab6 |
C |
A |
15: 83,834,201 (GRCm39) |
S469I |
probably benign |
Het |
| Esp15 |
C |
A |
17: 39,953,564 (GRCm39) |
T17K |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,163,238 (GRCm39) |
T172A |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,985,005 (GRCm39) |
D305E |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,382,602 (GRCm39) |
T541A |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,865,710 (GRCm39) |
Y768H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,753,931 (GRCm39) |
V514A |
possibly damaging |
Het |
| Melk |
A |
G |
4: 44,312,255 (GRCm39) |
E141G |
probably null |
Het |
| Nln |
A |
G |
13: 104,195,338 (GRCm39) |
Y245H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,310,414 (GRCm39) |
R1563H |
probably damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,369 (GRCm39) |
M101L |
probably benign |
Het |
| Or8b44 |
A |
C |
9: 38,410,204 (GRCm39) |
K80Q |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,515,875 (GRCm39) |
S53P |
probably damaging |
Het |
| Pole |
A |
T |
5: 110,459,931 (GRCm39) |
K1112* |
probably null |
Het |
| Ppfia4 |
T |
G |
1: 134,250,788 (GRCm39) |
D184A |
possibly damaging |
Het |
| Rpp30 |
T |
A |
19: 36,079,251 (GRCm39) |
D216E |
probably benign |
Het |
| Sbno2 |
C |
T |
10: 79,903,171 (GRCm39) |
A398T |
probably damaging |
Het |
| Sbp |
T |
A |
17: 24,164,552 (GRCm39) |
S94T |
probably benign |
Het |
| Skp1 |
T |
G |
11: 52,133,415 (GRCm39) |
D33E |
possibly damaging |
Het |
| Slc17a8 |
A |
G |
10: 89,433,364 (GRCm39) |
W220R |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,258 (GRCm39) |
M826K |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,822 (GRCm39) |
K322E |
probably benign |
Het |
| Spata32 |
T |
A |
11: 103,100,653 (GRCm39) |
N38I |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,726,218 (GRCm39) |
R969G |
probably damaging |
Het |
| Trgc2 |
T |
C |
13: 19,489,301 (GRCm39) |
I144V |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,603,377 (GRCm39) |
L385S |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,444,836 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
T |
A |
15: 81,906,693 (GRCm39) |
D79E |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,426,744 (GRCm39) |
C2467* |
probably null |
Het |
| Zfp553 |
C |
T |
7: 126,835,875 (GRCm39) |
R477C |
possibly damaging |
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 |
|
R4200: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 |
|
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'- TTACACTGAAAGGGTCTCTCAG -3'
(R):5'- AAAGCCTTCACCAGCTTCGC -3'
Sequencing Primer
(F):5'- CACTGAAAGGGTCTCTCAGAACTATG -3'
(R):5'- CACCAGCTTCGCTCAGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation