Incidental Mutation 'R4250:Ikzf1'
| ID |
321315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ikzf1
|
| Ensembl Gene |
ENSMUSG00000018654 |
| Gene Name |
IKAROS family zinc finger 1 |
| Synonyms |
Zfpn1a1, 5832432G11Rik, LyF-1, Ikaros |
| MMRRC Submission |
041066-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4250 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
11634980-11722926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11704166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 194
(T194M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018798]
[ENSMUST00000048122]
[ENSMUST00000065433]
[ENSMUST00000076700]
[ENSMUST00000126058]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018798
AA Change: T107M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018798
Gene: ENSMUSG00000018654
AA Change: T107M
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
58 |
80 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
86 |
108 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
114 |
137 |
8.22e-2 |
SMART |
|
low complexity region
|
282 |
293 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
371 |
393 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
399 |
423 |
5.34e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048122
AA Change: T107M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046974
Gene: ENSMUSG00000018654
AA Change: T107M
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
58 |
80 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
86 |
108 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
114 |
137 |
8.22e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065433
AA Change: T214M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067372
Gene: ENSMUSG00000018654
AA Change: T214M
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
137 |
159 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
221 |
244 |
8.22e-2 |
SMART |
|
low complexity region
|
389 |
400 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
478 |
500 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
506 |
530 |
5.34e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076700
AA Change: T194M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075992
Gene: ENSMUSG00000018654
AA Change: T194M
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
117 |
139 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
145 |
167 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
173 |
195 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
201 |
224 |
8.22e-2 |
SMART |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
458 |
480 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
486 |
510 |
5.34e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126058
|
| SMART Domains |
Protein: ENSMUSP00000119960
Gene: ENSMUSG00000018654
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
58 |
78 |
2.14e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to a family of transcription factors that are characterized by a set of four DNA-binding zinc fingers at the N-terminus and two C-terminal zinc fingers involved in protein dimerization. It is regulated by both epigenetic and transcription factors. This protein is a transcriptional regulator of hematopoietic cell development and homeostasis. In addition, it is required to confer temporal competence to retinal progenitor cells during embryogenesis, demonstrating an essential function in nervous system development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mutants have a variety of T, B, and hematopoeitic cell maturation defects. Heterozygotes for one allele exhibit dominant negative effects and mice develop lymphoproliferative disorders. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2a1d |
C |
T |
9: 88,613,706 (GRCm39) |
V23I |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,936 (GRCm39) |
L552M |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,021,890 (GRCm39) |
L319Q |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,564,726 (GRCm39) |
T296A |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,365,638 (GRCm39) |
I313L |
probably benign |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Ezr |
A |
T |
17: 7,022,196 (GRCm39) |
I94N |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,233,825 (GRCm39) |
I99S |
probably damaging |
Het |
| Hba-x |
T |
C |
11: 32,228,000 (GRCm39) |
Y155H |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,893,501 (GRCm39) |
V921D |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,949,035 (GRCm39) |
T796A |
probably damaging |
Het |
| Igkv8-26 |
G |
A |
6: 70,170,230 (GRCm39) |
V7I |
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,368 (GRCm39) |
M259V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,633,857 (GRCm39) |
Y38C |
probably damaging |
Het |
| Pilra |
A |
T |
5: 137,821,814 (GRCm39) |
S274T |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,077,869 (GRCm39) |
V27A |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,559,579 (GRCm39) |
V414A |
probably benign |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Sirt1 |
T |
A |
10: 63,172,877 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
G |
5: 31,195,062 (GRCm39) |
S512P |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,267,327 (GRCm39) |
T160S |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,617 (GRCm39) |
I298V |
probably benign |
Het |
| Trmt9b |
C |
A |
8: 36,979,366 (GRCm39) |
T323K |
probably benign |
Het |
| Ttc4 |
G |
A |
4: 106,522,880 (GRCm39) |
T346I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,056 (GRCm39) |
T32977A |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 19,975,685 (GRCm39) |
K114E |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,020 (GRCm39) |
V133A |
possibly damaging |
Het |
|
| Other mutations in Ikzf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Ikzf1
|
APN |
11 |
11,718,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01367:Ikzf1
|
APN |
11 |
11,698,358 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01823:Ikzf1
|
APN |
11 |
11,719,091 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02342:Ikzf1
|
APN |
11 |
11,650,216 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02452:Ikzf1
|
APN |
11 |
11,698,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Ikzf1
|
APN |
11 |
11,650,226 (GRCm39) |
missense |
probably benign |
|
|
IGL03236:Ikzf1
|
APN |
11 |
11,657,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Herrscher
|
UTSW |
11 |
11,718,961 (GRCm39) |
nonsense |
probably null |
|
|
Star_lord
|
UTSW |
11 |
11,719,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
waxwing
|
UTSW |
11 |
11,698,464 (GRCm39) |
nonsense |
probably null |
|
|
R0133:Ikzf1
|
UTSW |
11 |
11,691,015 (GRCm39) |
splice site |
probably null |
|
|
R0417:Ikzf1
|
UTSW |
11 |
11,719,352 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0633:Ikzf1
|
UTSW |
11 |
11,719,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Ikzf1
|
UTSW |
11 |
11,708,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Ikzf1
|
UTSW |
11 |
11,657,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Ikzf1
|
UTSW |
11 |
11,719,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2927:Ikzf1
|
UTSW |
11 |
11,719,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Ikzf1
|
UTSW |
11 |
11,719,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5912:Ikzf1
|
UTSW |
11 |
11,698,464 (GRCm39) |
nonsense |
probably null |
|
|
R6274:Ikzf1
|
UTSW |
11 |
11,718,961 (GRCm39) |
nonsense |
probably null |
|
|
R7614:Ikzf1
|
UTSW |
11 |
11,719,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Ikzf1
|
UTSW |
11 |
11,698,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Ikzf1
|
UTSW |
11 |
11,719,256 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8758:Ikzf1
|
UTSW |
11 |
11,711,359 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8946:Ikzf1
|
UTSW |
11 |
11,719,485 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8998:Ikzf1
|
UTSW |
11 |
11,635,013 (GRCm39) |
start gained |
probably benign |
|
|
R8999:Ikzf1
|
UTSW |
11 |
11,635,013 (GRCm39) |
start gained |
probably benign |
|
|
R9624:Ikzf1
|
UTSW |
11 |
11,719,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ikzf1
|
UTSW |
11 |
11,708,194 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACAACTTTCTCGAGGCCG -3'
(R):5'- AGGGTTTCCATGTGTGCACC -3'
Sequencing Primer
(F):5'- GAGCGCTCTCTCTCAGTGC -3'
(R):5'- CATGTGTGCACCCCCGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation