Incidental Mutation 'R3915:Ikzf3'
| ID |
309609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikzf3
|
| Ensembl Gene |
ENSMUSG00000018168 |
| Gene Name |
IKAROS family zinc finger 3 |
| Synonyms |
Zfpn1a3, 5830411O07Rik, Aiolos |
| MMRRC Submission |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98355728-98436857 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98381412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 56
(D56G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103141]
|
| AlphaFold |
O08900 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103141
AA Change: D56G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099430
Gene: ENSMUSG00000018168
AA Change: D56G
| 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 |
0.1033 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
| Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
| Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
| Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
| Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
| Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
| Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
| Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
| Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly damaging |
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 |
|
|
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 |
|
R5266:Ikzf3
|
UTSW |
11 |
98,381,406 (GRCm39) |
missense |
probably benign |
0.11 |
|
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'- AAGCTAATGCAGGATAACCCGC -3'
(R):5'- TGTGGTTCCGAATTCAAACAG -3'
Sequencing Primer
(F):5'- GCACACGTCGCAGTTCATC -3'
(R):5'- AGTGAATGGTCTCCCTCACAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation