Incidental Mutation 'R1726:Ikzf2'
| ID |
198121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikzf2
|
| Ensembl Gene |
ENSMUSG00000025997 |
| Gene Name |
IKAROS family zinc finger 2 |
| Synonyms |
A730095J18Rik, Helios, Zfpn1a2 |
| MMRRC Submission |
039758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1726 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
69570373-69726404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69587847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 214
(R214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027146]
[ENSMUST00000187184]
[ENSMUST00000188110]
[ENSMUST00000190771]
[ENSMUST00000190855]
[ENSMUST00000191262]
|
| AlphaFold |
P81183 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027146
AA Change: R208L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027146
Gene: ENSMUSG00000025997
AA Change: R208L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
112 |
134 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
140 |
162 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
196 |
219 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
9.46e0 |
SMART |
|
ZnF_C2H2
|
499 |
523 |
6.13e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187100
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187184
AA Change: R182L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141075
Gene: ENSMUSG00000025997
AA Change: R182L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
114 |
136 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
142 |
164 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
170 |
193 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
9.46e0 |
SMART |
|
ZnF_C2H2
|
473 |
497 |
6.13e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188110
|
| SMART Domains |
Protein: ENSMUSP00000140069
Gene: ENSMUSG00000025997
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
114 |
136 |
7.3e-7 |
SMART |
|
ZnF_C2H2
|
142 |
164 |
1.6e-6 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
4e-2 |
SMART |
|
ZnF_C2H2
|
427 |
451 |
2.6e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190771
AA Change: R214L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139543
Gene: ENSMUSG00000025997
AA Change: R214L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
118 |
140 |
3.2e-4 |
SMART |
|
ZnF_C2H2
|
146 |
168 |
7.3e-7 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
1.6e-6 |
SMART |
|
ZnF_C2H2
|
202 |
225 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
4e-2 |
SMART |
|
ZnF_C2H2
|
505 |
529 |
2.6e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190855
AA Change: R182L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140043
Gene: ENSMUSG00000025997
AA Change: R182L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
114 |
136 |
7.3e-7 |
SMART |
|
ZnF_C2H2
|
142 |
164 |
1.6e-6 |
SMART |
|
ZnF_C2H2
|
170 |
193 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
4e-2 |
SMART |
|
ZnF_C2H2
|
425 |
449 |
2.6e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191262
AA Change: R63L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139530
Gene: ENSMUSG00000025997
AA Change: R63L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
51 |
74 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
4e-2 |
SMART |
|
ZnF_C2H2
|
354 |
378 |
2.6e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
97% (63/65) |
| 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 protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit postnatal lethality for unknown reasons. Survivors have decreased body weight. Postnatal lethality has complete penetrance on the C57BL/6 strain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
C |
12: 118,838,536 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,871,267 (GRCm39) |
S711T |
possibly damaging |
Het |
| Acoxl |
G |
A |
2: 127,722,366 (GRCm39) |
G216R |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,504,228 (GRCm39) |
N949I |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,105,225 (GRCm39) |
|
probably null |
Het |
| Brip1 |
A |
T |
11: 85,955,740 (GRCm39) |
S924R |
probably benign |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc141 |
A |
G |
2: 76,938,700 (GRCm39) |
|
probably benign |
Het |
| Ccdc80 |
A |
T |
16: 44,916,368 (GRCm39) |
T375S |
probably benign |
Het |
| Ccl11 |
A |
G |
11: 81,952,546 (GRCm39) |
K40E |
possibly damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,509 (GRCm39) |
C269S |
probably damaging |
Het |
| Dgat2 |
A |
G |
7: 98,831,623 (GRCm39) |
S33P |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,625,464 (GRCm39) |
D608G |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,388,715 (GRCm39) |
D889E |
probably damaging |
Het |
| Dvl2 |
A |
T |
11: 69,900,287 (GRCm39) |
T694S |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,375,184 (GRCm39) |
I561T |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,036,280 (GRCm39) |
V1100A |
probably benign |
Het |
| Galt |
G |
A |
4: 41,756,001 (GRCm39) |
W22* |
probably null |
Het |
| Garem1 |
C |
A |
18: 21,281,319 (GRCm39) |
V346L |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm10762 |
A |
T |
2: 128,809,135 (GRCm39) |
|
probably benign |
Het |
| Gm21900 |
A |
G |
Y: 10,616,358 (GRCm39) |
|
probably null |
Het |
| Gm2663 |
T |
C |
6: 40,974,960 (GRCm39) |
Y37C |
probably damaging |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
C |
A |
10: 75,828,361 (GRCm39) |
P314T |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,326,467 (GRCm39) |
E348G |
possibly damaging |
Het |
| H2-T24 |
T |
A |
17: 36,326,513 (GRCm39) |
M129L |
probably benign |
Het |
| Insyn2a |
T |
C |
7: 134,500,867 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,664 (GRCm39) |
L1691Q |
probably damaging |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,707,113 (GRCm39) |
L650P |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,413,977 (GRCm39) |
P368S |
possibly damaging |
Het |
| Mob3b |
A |
G |
4: 34,954,028 (GRCm39) |
M214T |
probably benign |
Het |
| Mrpl1 |
T |
C |
5: 96,371,686 (GRCm39) |
V71A |
probably benign |
Het |
| Mrpl57 |
A |
G |
14: 58,064,092 (GRCm39) |
E40G |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,774,547 (GRCm39) |
V162A |
possibly damaging |
Het |
| Nalcn |
A |
T |
14: 123,545,816 (GRCm39) |
V1065E |
probably damaging |
Het |
| Nemp2 |
A |
G |
1: 52,676,554 (GRCm39) |
D42G |
probably damaging |
Het |
| Npepps |
A |
G |
11: 97,115,495 (GRCm39) |
L623P |
probably damaging |
Het |
| Olig3 |
A |
G |
10: 19,232,482 (GRCm39) |
S36G |
probably benign |
Het |
| Or10j5 |
A |
G |
1: 172,784,658 (GRCm39) |
T99A |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,636 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
T |
C |
7: 108,354,215 (GRCm39) |
S51P |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,647 (GRCm39) |
Y584* |
probably null |
Het |
| Pcyox1l |
T |
C |
18: 61,830,849 (GRCm39) |
Y341C |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,656,164 (GRCm39) |
|
probably null |
Het |
| Pias4 |
A |
C |
10: 80,991,689 (GRCm39) |
V313G |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,783,150 (GRCm39) |
T81M |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,349,322 (GRCm39) |
I40M |
probably damaging |
Het |
| Reep6 |
T |
C |
10: 80,170,954 (GRCm39) |
S277P |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,442,189 (GRCm39) |
E1694G |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,613,996 (GRCm39) |
Y274C |
probably benign |
Het |
| Slc12a6 |
T |
A |
2: 112,177,771 (GRCm39) |
I630N |
probably damaging |
Het |
| Slc14a1 |
T |
A |
18: 78,159,681 (GRCm39) |
N15Y |
probably benign |
Het |
| Slc17a4 |
A |
T |
13: 24,089,574 (GRCm39) |
Y114* |
probably null |
Het |
| Slc26a1 |
C |
T |
5: 108,821,541 (GRCm39) |
G116D |
probably damaging |
Het |
| Smg8 |
G |
T |
11: 86,971,439 (GRCm39) |
Y777* |
probably null |
Het |
| Tlr11 |
A |
T |
14: 50,598,998 (GRCm39) |
H328L |
probably benign |
Het |
| Ube2c |
G |
T |
2: 164,613,237 (GRCm39) |
A52S |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,523,864 (GRCm39) |
S806G |
probably damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,839 (GRCm39) |
I153K |
probably damaging |
Het |
| Zkscan2 |
T |
A |
7: 123,089,046 (GRCm39) |
E408D |
probably damaging |
Het |
|
| Other mutations in Ikzf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Ikzf2
|
APN |
1 |
69,578,481 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01295:Ikzf2
|
APN |
1 |
69,617,146 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01313:Ikzf2
|
APN |
1 |
69,578,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01390:Ikzf2
|
APN |
1 |
69,609,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Ikzf2
|
APN |
1 |
69,578,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Freefall
|
UTSW |
1 |
69,578,256 (GRCm39) |
nonsense |
probably null |
|
|
Wigwam
|
UTSW |
1 |
69,616,955 (GRCm39) |
nonsense |
probably null |
|
|
R1079:Ikzf2
|
UTSW |
1 |
69,578,264 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1368:Ikzf2
|
UTSW |
1 |
69,578,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1661:Ikzf2
|
UTSW |
1 |
69,577,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1665:Ikzf2
|
UTSW |
1 |
69,577,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1688:Ikzf2
|
UTSW |
1 |
69,581,439 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1829:Ikzf2
|
UTSW |
1 |
69,581,446 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1860:Ikzf2
|
UTSW |
1 |
69,609,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Ikzf2
|
UTSW |
1 |
69,578,447 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4457:Ikzf2
|
UTSW |
1 |
69,723,347 (GRCm39) |
unclassified |
probably benign |
|
|
R5633:Ikzf2
|
UTSW |
1 |
69,578,256 (GRCm39) |
nonsense |
probably null |
|
|
R5666:Ikzf2
|
UTSW |
1 |
69,617,059 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5670:Ikzf2
|
UTSW |
1 |
69,617,059 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5836:Ikzf2
|
UTSW |
1 |
69,578,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Ikzf2
|
UTSW |
1 |
69,722,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Ikzf2
|
UTSW |
1 |
69,578,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6758:Ikzf2
|
UTSW |
1 |
69,578,059 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6809:Ikzf2
|
UTSW |
1 |
69,609,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6946:Ikzf2
|
UTSW |
1 |
69,616,955 (GRCm39) |
nonsense |
probably null |
|
|
R6959:Ikzf2
|
UTSW |
1 |
69,577,929 (GRCm39) |
makesense |
probably null |
|
|
R7044:Ikzf2
|
UTSW |
1 |
69,578,060 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7236:Ikzf2
|
UTSW |
1 |
69,578,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7256:Ikzf2
|
UTSW |
1 |
69,617,212 (GRCm39) |
splice site |
probably null |
|
|
R7488:Ikzf2
|
UTSW |
1 |
69,578,544 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7731:Ikzf2
|
UTSW |
1 |
69,578,302 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7863:Ikzf2
|
UTSW |
1 |
69,609,796 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8401:Ikzf2
|
UTSW |
1 |
69,578,255 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8401:Ikzf2
|
UTSW |
1 |
69,578,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8471:Ikzf2
|
UTSW |
1 |
69,578,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8724:Ikzf2
|
UTSW |
1 |
69,617,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8870:Ikzf2
|
UTSW |
1 |
69,722,417 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9035:Ikzf2
|
UTSW |
1 |
69,578,637 (GRCm39) |
nonsense |
probably null |
|
|
R9108:Ikzf2
|
UTSW |
1 |
69,577,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9370:Ikzf2
|
UTSW |
1 |
69,578,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Ikzf2
|
UTSW |
1 |
69,578,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9763:Ikzf2
|
UTSW |
1 |
69,587,835 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
X0027:Ikzf2
|
UTSW |
1 |
69,617,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTCATGTCAACTGCTGAGGAAG -3'
(R):5'- TGCCCAAATTGGAGTGTGGAGG -3'
Sequencing Primer
(F):5'- GGAAACACAGTCAGGTTTTGTC -3'
(R):5'- GTGGAAGAGACTGTCTGAAGAGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation