Incidental Mutation 'R9719:Zfp26'
| ID |
730670 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R9719 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20339745-20371458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20347861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 901
(E901G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159569]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159569
AA Change: E901G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: E901G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alppl2 |
T |
A |
1: 87,016,136 (GRCm39) |
Q241L |
probably benign |
Het |
| Apob |
T |
A |
12: 8,065,464 (GRCm39) |
N4144K |
probably benign |
Het |
| B4gat1 |
A |
G |
19: 5,090,516 (GRCm39) |
H413R |
probably benign |
Het |
| Ccdc179 |
T |
C |
7: 51,664,612 (GRCm39) |
T28A |
probably benign |
Het |
| Ceacam5 |
A |
C |
7: 17,491,835 (GRCm39) |
D735A |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,949,432 (GRCm39) |
D27N |
unknown |
Het |
| Colgalt1 |
A |
G |
8: 72,073,456 (GRCm39) |
E359G |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,793,148 (GRCm39) |
I261N |
probably benign |
Het |
| Cyyr1 |
A |
T |
16: 85,219,203 (GRCm39) |
L68Q |
unknown |
Het |
| Dgkz |
T |
A |
2: 91,768,911 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,867,912 (GRCm39) |
E3947V |
unknown |
Het |
| Eif2ak2 |
C |
A |
17: 79,162,783 (GRCm39) |
D472Y |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,755,539 (GRCm39) |
T429A |
possibly damaging |
Het |
| Fen1 |
G |
A |
19: 10,178,016 (GRCm39) |
H143Y |
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,113 (GRCm39) |
R58S |
unknown |
Het |
| Hspa1b |
T |
C |
17: 35,176,467 (GRCm39) |
D506G |
probably damaging |
Het |
| Inhca |
G |
T |
9: 103,132,014 (GRCm39) |
P569H |
probably benign |
Het |
| Kcna7 |
A |
G |
7: 45,056,390 (GRCm39) |
D202G |
probably benign |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mal |
C |
T |
2: 127,498,025 (GRCm39) |
S10N |
possibly damaging |
Het |
| Mgat2 |
T |
A |
12: 69,232,115 (GRCm39) |
W230R |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,436,493 (GRCm39) |
T883S |
probably benign |
Het |
| Ncaph2 |
T |
C |
15: 89,249,526 (GRCm39) |
S277P |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,916,091 (GRCm39) |
W341* |
probably null |
Het |
| Or13c7e-ps1 |
A |
C |
4: 43,781,454 (GRCm39) |
M292R |
probably damaging |
Het |
| Or1p1 |
A |
C |
11: 74,180,146 (GRCm39) |
I225L |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,368 (GRCm39) |
S65P |
probably damaging |
Het |
| Or5d46 |
T |
A |
2: 88,169,928 (GRCm39) |
N6K |
|
Het |
| Or5g26 |
T |
A |
2: 85,494,608 (GRCm39) |
I57F |
probably benign |
Het |
| Or6z1 |
C |
A |
7: 6,504,999 (GRCm39) |
M75I |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,583,484 (GRCm39) |
M777K |
probably benign |
Het |
| Rasef |
A |
G |
4: 73,688,102 (GRCm39) |
I17T |
possibly damaging |
Het |
| Rptor |
A |
T |
11: 119,781,940 (GRCm39) |
D1089V |
probably benign |
Het |
| Scel |
A |
T |
14: 103,809,442 (GRCm39) |
|
probably null |
Het |
| Scfd2 |
A |
T |
5: 74,386,004 (GRCm39) |
L605Q |
probably damaging |
Het |
| Son |
A |
G |
16: 91,456,440 (GRCm39) |
E1729G |
probably damaging |
Het |
| Spata31e2 |
C |
G |
1: 26,722,820 (GRCm39) |
E787Q |
probably benign |
Het |
| Spout1 |
A |
G |
2: 30,065,813 (GRCm39) |
Y243H |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,276,601 (GRCm39) |
F1765S |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,191,803 (GRCm39) |
V877E |
possibly damaging |
Het |
| Txn2 |
T |
C |
15: 77,812,289 (GRCm39) |
|
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,331 (GRCm39) |
I293V |
possibly damaging |
Het |
| Vmn1r81 |
G |
A |
7: 11,994,449 (GRCm39) |
T53I |
probably damaging |
Het |
| Vps18 |
T |
C |
2: 119,127,553 (GRCm39) |
F792S |
probably damaging |
Het |
| Vps25 |
A |
G |
11: 101,146,853 (GRCm39) |
D91G |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,015,224 (GRCm39) |
L396F |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,111,304 (GRCm39) |
C665S |
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 |
|
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 |
|
X0065:Zfp26
|
UTSW |
9 |
20,348,187 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAAATGATGGATCAAGGGC -3'
(R):5'- AAACTCTTCATCCCTTGAGACC -3'
Sequencing Primer
(F):5'- CAAGGGCTATCAATTTTCTGAATCCC -3'
(R):5'- TTTACGCAATCACACTGGGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation