Incidental Mutation 'R4360:Zfp26'
| ID |
324859 |
| 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 |
041111-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4360 (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 20349869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 232
(S232G)
|
| 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: S232G
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: S232G
| 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
|
| Meta Mutation Damage Score |
0.3049 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra3 |
T |
C |
5: 50,147,552 (GRCm39) |
E496G |
possibly damaging |
Het |
| Atg14 |
C |
G |
14: 47,805,827 (GRCm39) |
E13Q |
probably benign |
Het |
| BC023105 |
G |
T |
18: 60,575,073 (GRCm39) |
|
noncoding transcript |
Het |
| Chd6 |
A |
G |
2: 160,791,776 (GRCm39) |
V2527A |
possibly damaging |
Het |
| Csn1s2a |
G |
T |
5: 87,929,700 (GRCm39) |
V100L |
possibly damaging |
Het |
| Fah |
G |
A |
7: 84,238,856 (GRCm39) |
L330F |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,709,583 (GRCm39) |
N268S |
probably damaging |
Het |
| Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,606,052 (GRCm39) |
H287L |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,410,197 (GRCm39) |
|
probably benign |
Het |
| Gm1758 |
A |
T |
16: 14,324,215 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7204 |
T |
C |
16: 48,039,196 (GRCm39) |
|
noncoding transcript |
Het |
| Gm829 |
T |
C |
4: 45,718,819 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Islr |
T |
A |
9: 58,064,887 (GRCm39) |
N207Y |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,106,036 (GRCm39) |
S1546P |
probably damaging |
Het |
| Or13a25 |
T |
C |
7: 140,247,730 (GRCm39) |
F170L |
probably damaging |
Het |
| Or56a3 |
A |
C |
7: 104,735,460 (GRCm39) |
E179A |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,787,013 (GRCm39) |
C127Y |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,866,661 (GRCm39) |
D1075G |
possibly damaging |
Het |
| Pkp2 |
A |
G |
16: 16,086,546 (GRCm39) |
I736V |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,599,171 (GRCm39) |
I235T |
probably benign |
Het |
| Polq |
A |
G |
16: 36,880,701 (GRCm39) |
D955G |
probably benign |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Psmd1 |
A |
G |
1: 86,061,459 (GRCm39) |
K890E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scpep1 |
A |
G |
11: 88,821,070 (GRCm39) |
Y366H |
possibly damaging |
Het |
| Slc18a3 |
A |
G |
14: 32,185,882 (GRCm39) |
V167A |
probably benign |
Het |
| Sp8 |
A |
G |
12: 118,812,400 (GRCm39) |
D85G |
possibly damaging |
Het |
| Stard3nl |
G |
A |
13: 19,554,654 (GRCm39) |
S144L |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,930,879 (GRCm39) |
E160G |
possibly damaging |
Het |
| Tbcb |
T |
C |
7: 29,926,460 (GRCm39) |
N119S |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,935,161 (GRCm39) |
R592S |
probably benign |
Het |
| Trem3 |
T |
A |
17: 48,556,801 (GRCm39) |
S91T |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,610,267 (GRCm39) |
E245G |
probably benign |
Het |
| Usp40 |
C |
T |
1: 87,880,083 (GRCm39) |
R1036H |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,654,139 (GRCm39) |
G112C |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,024,149 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,746,456 (GRCm39) |
K555R |
probably benign |
Het |
| Zfp811 |
T |
C |
17: 33,017,432 (GRCm39) |
T202A |
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 |
|
R4200:Zfp26
|
UTSW |
9 |
20,348,012 (GRCm39) |
missense |
probably benign |
0.17 |
|
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'- ACGAAAGTTTCCCCACAGTC -3'
(R):5'- CATAAAGTGATGCCCCGAATG -3'
Sequencing Primer
(F):5'- CTGCATTCAACAGATTTTTCCGGAG -3'
(R):5'- ATGCCCCGAATGCATTGTGAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation