Incidental Mutation 'R5171:Zfp26'
| ID |
398724 |
| 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 |
042751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5171 (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 20356203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 35
(K35R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159569]
[ENSMUST00000162438]
|
| 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: K35R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: K35R
| 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 |
unknown
Transcript: ENSMUST00000162438
AA Change: K35R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (52/52) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
A |
1: 130,670,584 (GRCm39) |
Q269K |
probably benign |
Het |
| Acad9 |
T |
A |
3: 36,128,547 (GRCm39) |
I136N |
possibly damaging |
Het |
| Adtrp |
A |
G |
13: 41,931,039 (GRCm39) |
S183P |
probably damaging |
Het |
| Atp11b |
C |
T |
3: 35,887,086 (GRCm39) |
T690I |
probably damaging |
Het |
| Bcl2l12 |
G |
A |
7: 44,640,818 (GRCm39) |
|
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,752,503 (GRCm39) |
|
noncoding transcript |
Het |
| Ccl12 |
T |
C |
11: 81,993,460 (GRCm39) |
C33R |
probably damaging |
Het |
| Cdc25a |
T |
A |
9: 109,706,229 (GRCm39) |
S57R |
probably benign |
Het |
| Coro2a |
T |
A |
4: 46,542,372 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,749,605 (GRCm39) |
V55A |
possibly damaging |
Het |
| Ddn |
A |
G |
15: 98,704,207 (GRCm39) |
S362P |
possibly damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Donson |
A |
G |
16: 91,478,181 (GRCm39) |
V258A |
possibly damaging |
Het |
| Gm3336 |
G |
A |
8: 71,174,524 (GRCm39) |
V163I |
probably benign |
Het |
| Gper1 |
C |
T |
5: 139,412,413 (GRCm39) |
R253C |
probably damaging |
Het |
| Gpsm1 |
T |
A |
2: 26,217,476 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
A |
G |
5: 135,469,156 (GRCm39) |
S251P |
probably damaging |
Het |
| Ifi214 |
A |
G |
1: 173,354,200 (GRCm39) |
S157P |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,937,907 (GRCm39) |
V1535A |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,396,430 (GRCm39) |
N185S |
probably benign |
Het |
| Mnx1 |
T |
C |
5: 29,679,851 (GRCm39) |
Q252R |
unknown |
Het |
| Mroh3 |
A |
T |
1: 136,119,394 (GRCm39) |
L463Q |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,406,967 (GRCm39) |
V1030A |
possibly damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,640 (GRCm39) |
T257A |
probably benign |
Het |
| Or5ak20 |
T |
C |
2: 85,184,114 (GRCm39) |
D52G |
probably benign |
Het |
| Or5w1 |
T |
G |
2: 87,486,888 (GRCm39) |
I126L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,167,419 (GRCm39) |
Y1015H |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,801,829 (GRCm39) |
T256I |
probably benign |
Het |
| Rexo5 |
T |
A |
7: 119,423,002 (GRCm39) |
I278N |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,300,499 (GRCm39) |
S77T |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,741,808 (GRCm39) |
A804T |
probably benign |
Het |
| Slc24a2 |
T |
A |
4: 86,914,871 (GRCm39) |
I589F |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,951,181 (GRCm39) |
I217K |
probably benign |
Het |
| Slc5a7 |
T |
C |
17: 54,583,704 (GRCm39) |
T529A |
probably benign |
Het |
| Spata22 |
T |
A |
11: 73,227,034 (GRCm39) |
S83T |
probably damaging |
Het |
| Spata31e4 |
A |
T |
13: 50,854,414 (GRCm39) |
T91S |
possibly damaging |
Het |
| Stac2 |
A |
T |
11: 97,934,324 (GRCm39) |
C127S |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,062,259 (GRCm39) |
H2531R |
probably benign |
Het |
| Tmem151a |
G |
T |
19: 5,132,061 (GRCm39) |
R382S |
probably damaging |
Het |
| Trim60 |
T |
C |
8: 65,453,176 (GRCm39) |
T358A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,665,236 (GRCm39) |
M1048L |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,965,074 (GRCm39) |
S306P |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,016,986 (GRCm39) |
|
probably null |
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 |
|
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'- CAAAGCCCCTGGTATTTGGC -3'
(R):5'- GGGGTTTATATCTTGAGTGAACCAAG -3'
Sequencing Primer
(F):5'- TTTGGCACTGCAATGGTCAAGAC -3'
(R):5'- CACAGTGAATGTGGGCTT -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation