Incidental Mutation 'R5266:Ikzf3'
| ID |
401716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikzf3
|
| Ensembl Gene |
ENSMUSG00000018168 |
| Gene Name |
IKAROS family zinc finger 3 |
| Synonyms |
Zfpn1a3, 5830411O07Rik, Aiolos |
| MMRRC Submission |
042858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5266 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98355728-98436857 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98381406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 58
(M58K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103141]
|
| AlphaFold |
O08900 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103141
AA Change: M58K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099430
Gene: ENSMUSG00000018168
AA Change: M58K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
117 |
139 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
145 |
167 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
201 |
221 |
7.11e0 |
SMART |
|
ZnF_C2H2
|
450 |
472 |
7.11e0 |
SMART |
|
ZnF_C2H2
|
478 |
502 |
1.64e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140876
|
| Meta Mutation Damage Score |
0.0899 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous mutants exhibit greatly reduced B cell populations in the peritoneum, marginal zone and recirculating bone marrow. Aging mutants express autoantibodies, frequently develop B cell lymphomas, and display symptoms characteristic of SLE. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
C |
18: 70,591,455 (GRCm39) |
N457S |
probably damaging |
Het |
| Asic4 |
G |
A |
1: 75,427,567 (GRCm39) |
G31E |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,866,223 (GRCm39) |
D281G |
probably damaging |
Het |
| Azin1 |
T |
C |
15: 38,491,795 (GRCm39) |
D387G |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,204,043 (GRCm39) |
M660V |
probably benign |
Het |
| Catsperg2 |
G |
A |
7: 29,416,491 (GRCm39) |
T307M |
probably damaging |
Het |
| Cfap54 |
T |
G |
10: 92,651,764 (GRCm39) |
K3095N |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,677,504 (GRCm39) |
N706S |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,798,517 (GRCm39) |
V113A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,341,548 (GRCm39) |
S607P |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,731,207 (GRCm39) |
N198D |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Elac1 |
A |
G |
18: 73,875,740 (GRCm39) |
V97A |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,405,505 (GRCm39) |
T1251M |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,843,910 (GRCm39) |
N12K |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,061,416 (GRCm39) |
H316R |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,835,555 (GRCm39) |
Y1746H |
probably damaging |
Het |
| Map3k11 |
T |
A |
19: 5,750,622 (GRCm39) |
N613K |
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mrm1 |
A |
T |
11: 84,710,086 (GRCm39) |
L38Q |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,131,787 (GRCm39) |
F470L |
probably damaging |
Het |
| Ndst2 |
G |
A |
14: 20,774,555 (GRCm39) |
R834W |
probably damaging |
Het |
| Opa1 |
T |
A |
16: 29,436,948 (GRCm39) |
I637N |
probably benign |
Het |
| Or52h9 |
A |
T |
7: 104,203,026 (GRCm39) |
Q300L |
probably benign |
Het |
| Or5d43 |
T |
C |
2: 88,104,565 (GRCm39) |
Y276C |
possibly damaging |
Het |
| Padi4 |
A |
G |
4: 140,473,442 (GRCm39) |
V665A |
possibly damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,325,252 (GRCm39) |
Y897H |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,663,190 (GRCm39) |
D345G |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,740,918 (GRCm39) |
M366V |
possibly damaging |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Pon3 |
T |
C |
6: 5,240,860 (GRCm39) |
D34G |
possibly damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,448,876 (GRCm39) |
S133T |
probably damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,123,309 (GRCm39) |
S2P |
possibly damaging |
Het |
| Rbm20 |
A |
G |
19: 53,801,818 (GRCm39) |
T109A |
probably damaging |
Het |
| Rexo5 |
C |
A |
7: 119,443,660 (GRCm39) |
H690Q |
probably benign |
Het |
| Scube2 |
C |
T |
7: 109,408,437 (GRCm39) |
G670D |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,865 (GRCm39) |
I157M |
probably damaging |
Het |
| Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Stk36 |
T |
C |
1: 74,650,317 (GRCm39) |
V283A |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,673 (GRCm39) |
|
probably benign |
Het |
| Tecpr2 |
G |
C |
12: 110,881,836 (GRCm39) |
W135S |
probably damaging |
Het |
| Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
| Ttc39a |
A |
T |
4: 109,279,701 (GRCm39) |
I112F |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,328 (GRCm39) |
T11S |
probably benign |
Het |
| Vnn1 |
G |
A |
10: 23,779,303 (GRCm39) |
C404Y |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,131,759 (GRCm39) |
F57L |
probably damaging |
Het |
| Zfp975 |
T |
G |
7: 42,311,654 (GRCm39) |
T320P |
probably damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,289 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
C |
15: 40,962,865 (GRCm39) |
S176P |
probably benign |
Het |
|
| Other mutations in Ikzf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01477:Ikzf3
|
APN |
11 |
98,379,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01537:Ikzf3
|
APN |
11 |
98,407,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03376:Ikzf3
|
APN |
11 |
98,379,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Ikzf3
|
UTSW |
11 |
98,358,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0266:Ikzf3
|
UTSW |
11 |
98,358,143 (GRCm39) |
missense |
probably benign |
|
|
R1302:Ikzf3
|
UTSW |
11 |
98,407,746 (GRCm39) |
missense |
probably benign |
|
|
R1464:Ikzf3
|
UTSW |
11 |
98,407,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Ikzf3
|
UTSW |
11 |
98,407,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1500:Ikzf3
|
UTSW |
11 |
98,409,521 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1531:Ikzf3
|
UTSW |
11 |
98,381,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1599:Ikzf3
|
UTSW |
11 |
98,357,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Ikzf3
|
UTSW |
11 |
98,381,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2154:Ikzf3
|
UTSW |
11 |
98,376,475 (GRCm39) |
nonsense |
probably null |
|
|
R3915:Ikzf3
|
UTSW |
11 |
98,381,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4004:Ikzf3
|
UTSW |
11 |
98,379,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4005:Ikzf3
|
UTSW |
11 |
98,379,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4075:Ikzf3
|
UTSW |
11 |
98,358,469 (GRCm39) |
nonsense |
probably null |
|
|
R4210:Ikzf3
|
UTSW |
11 |
98,381,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4804:Ikzf3
|
UTSW |
11 |
98,381,400 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5107:Ikzf3
|
UTSW |
11 |
98,381,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Ikzf3
|
UTSW |
11 |
98,381,406 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5450:Ikzf3
|
UTSW |
11 |
98,357,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Ikzf3
|
UTSW |
11 |
98,357,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6557:Ikzf3
|
UTSW |
11 |
98,407,707 (GRCm39) |
missense |
probably benign |
|
|
R7832:Ikzf3
|
UTSW |
11 |
98,409,525 (GRCm39) |
missense |
probably benign |
|
|
R8058:Ikzf3
|
UTSW |
11 |
98,407,753 (GRCm39) |
nonsense |
probably null |
|
|
R8073:Ikzf3
|
UTSW |
11 |
98,358,255 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9564:Ikzf3
|
UTSW |
11 |
98,358,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ikzf3
|
UTSW |
11 |
98,358,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAACCATCAAGACGTTGAAGC -3'
(R):5'- GTGAATGGTCTCCCTCACAG -3'
Sequencing Primer
(F):5'- CGTTGAAGCTAATGCAGGATAACCC -3'
(R):5'- CATTCCGTGAGCTTACTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation