Incidental Mutation 'R4050:Zfp26'
| ID |
314110 |
| 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 |
040968-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4050 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20339745-20371458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20353525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 88
(P88L)
|
| 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: P88L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: P88L
| 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 |
probably benign
Transcript: ENSMUST00000162438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,029,449 (GRCm39) |
D473G |
probably damaging |
Het |
| Abca1 |
T |
A |
4: 53,044,144 (GRCm39) |
Q1826L |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,065,390 (GRCm39) |
V4087I |
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,150,363 (GRCm39) |
A1354T |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,976,404 (GRCm39) |
V424A |
probably benign |
Het |
| Cdc20b |
G |
A |
13: 113,200,819 (GRCm39) |
D180N |
probably benign |
Het |
| Cep57l1 |
G |
T |
10: 41,605,356 (GRCm39) |
R130S |
probably damaging |
Het |
| Ddb1 |
A |
G |
19: 10,605,171 (GRCm39) |
D1053G |
probably benign |
Het |
| Ddx39a |
T |
A |
8: 84,448,863 (GRCm39) |
M246K |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,114,441 (GRCm39) |
T1013M |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,445,769 (GRCm39) |
T265N |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,410 (GRCm39) |
V1311A |
possibly damaging |
Het |
| Gbp8 |
T |
A |
5: 105,179,104 (GRCm39) |
I132F |
probably damaging |
Het |
| Gga1 |
A |
G |
15: 78,775,691 (GRCm39) |
D382G |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,378 (GRCm39) |
|
probably benign |
Het |
| Gm8074 |
G |
A |
9: 78,229,618 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,342 (GRCm39) |
L188Q |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,646,599 (GRCm39) |
S95G |
probably damaging |
Het |
| Hnf1a |
T |
A |
5: 115,108,633 (GRCm39) |
N91Y |
probably damaging |
Het |
| Ints10 |
C |
T |
8: 69,280,003 (GRCm39) |
S710F |
probably damaging |
Het |
| Kazn |
C |
T |
4: 141,834,215 (GRCm39) |
E614K |
unknown |
Het |
| Kif26a |
T |
A |
12: 112,146,350 (GRCm39) |
M1812K |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,139,713 (GRCm39) |
K488* |
probably null |
Het |
| Mad1l1 |
A |
G |
5: 140,118,571 (GRCm39) |
S457P |
probably damaging |
Het |
| Met |
A |
G |
6: 17,533,983 (GRCm39) |
T645A |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,185,903 (GRCm39) |
|
probably null |
Het |
| Mycl |
A |
T |
4: 122,890,632 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
G |
A |
4: 46,147,483 (GRCm39) |
R110H |
probably damaging |
Het |
| Nfasc |
G |
T |
1: 132,538,043 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
A |
G |
2: 80,486,320 (GRCm39) |
I212V |
probably benign |
Het |
| Or2y8 |
T |
G |
11: 52,035,961 (GRCm39) |
Y132S |
probably damaging |
Het |
| Or4p20 |
A |
G |
2: 88,253,967 (GRCm39) |
M134T |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcgf5 |
G |
A |
19: 36,420,311 (GRCm39) |
S181N |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,536,400 (GRCm39) |
T617I |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,913,182 (GRCm39) |
|
probably null |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,881 (GRCm39) |
L92P |
probably damaging |
Het |
| Pramel24 |
T |
C |
4: 143,453,692 (GRCm39) |
S267P |
probably benign |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,169,542 (GRCm39) |
K220R |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,004,840 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,014,697 (GRCm39) |
A1005V |
probably benign |
Het |
| Samd15 |
T |
G |
12: 87,247,406 (GRCm39) |
N30K |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,911,294 (GRCm39) |
K905* |
probably null |
Het |
| Scrib |
G |
A |
15: 75,923,322 (GRCm39) |
R1245W |
possibly damaging |
Het |
| Skint4 |
C |
T |
4: 111,981,811 (GRCm39) |
S260L |
probably benign |
Het |
| Slc29a2 |
A |
T |
19: 5,079,481 (GRCm39) |
M339L |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,164 (GRCm39) |
R75G |
possibly damaging |
Het |
| Spire1 |
G |
T |
18: 67,662,101 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
T |
C |
3: 122,907,927 (GRCm39) |
D463G |
possibly damaging |
Het |
| Taf4 |
C |
A |
2: 179,573,805 (GRCm39) |
G688C |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,623,507 (GRCm39) |
S2148P |
probably benign |
Het |
| Tpte |
T |
A |
8: 22,856,000 (GRCm39) |
V600E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,651,510 (GRCm39) |
V10953A |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,178,691 (GRCm39) |
Y333C |
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,181,415 (GRCm39) |
S311P |
probably damaging |
Het |
| Zbtb26 |
A |
C |
2: 37,327,000 (GRCm39) |
M1R |
probably null |
Het |
| Zfp324 |
T |
C |
7: 12,704,794 (GRCm39) |
F328L |
probably 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 |
|
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 |
|
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'- TGAGAAAATGTGCCTTCTTGGTC -3'
(R):5'- ACTCCTGTGTACTGGGATTGC -3'
Sequencing Primer
(F):5'- AAAATGTGCCTTCTTGGTCAGTTTC -3'
(R):5'- GATTGCTGATGTTCTTACCATGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation