Incidental Mutation 'IGL02261:Ikzf4'
ID |
286738 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ikzf4
|
Ensembl Gene |
ENSMUSG00000002578 |
Gene Name |
IKAROS family zinc finger 4 |
Synonyms |
Zfpn1a4, A630026H08Rik, Eos |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02261
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128466712-128505227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128472591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 209
(T209A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133342]
[ENSMUST00000221150]
[ENSMUST00000222067]
[ENSMUST00000223162]
|
AlphaFold |
Q8C208 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065334
AA Change: T262A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000066991 Gene: ENSMUSG00000002578 AA Change: T262A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
159 |
181 |
7.67e-2 |
SMART |
ZnF_C2H2
|
187 |
209 |
1.72e-4 |
SMART |
ZnF_C2H2
|
215 |
237 |
1.72e-4 |
SMART |
ZnF_C2H2
|
248 |
271 |
1.18e-2 |
SMART |
low complexity region
|
423 |
436 |
N/A |
INTRINSIC |
low complexity region
|
475 |
484 |
N/A |
INTRINSIC |
ZnF_C2H2
|
531 |
553 |
7.49e0 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000113478 Gene: ENSMUSG00000002578 AA Change: T209A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
106 |
128 |
7.67e-2 |
SMART |
ZnF_C2H2
|
134 |
156 |
1.72e-4 |
SMART |
ZnF_C2H2
|
162 |
184 |
1.72e-4 |
SMART |
ZnF_C2H2
|
195 |
218 |
1.18e-2 |
SMART |
low complexity region
|
370 |
383 |
N/A |
INTRINSIC |
low complexity region
|
422 |
431 |
N/A |
INTRINSIC |
ZnF_C2H2
|
478 |
500 |
7.49e0 |
SMART |
ZnF_C2H2
|
506 |
530 |
3.52e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133342
AA Change: T262A
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114404 Gene: ENSMUSG00000002578 AA Change: T262A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
159 |
181 |
7.67e-2 |
SMART |
ZnF_C2H2
|
187 |
209 |
1.72e-4 |
SMART |
ZnF_C2H2
|
215 |
237 |
1.72e-4 |
SMART |
ZnF_C2H2
|
248 |
271 |
1.18e-2 |
SMART |
low complexity region
|
423 |
436 |
N/A |
INTRINSIC |
low complexity region
|
475 |
484 |
N/A |
INTRINSIC |
ZnF_C2H2
|
531 |
553 |
7.49e0 |
SMART |
ZnF_C2H2
|
559 |
583 |
3.52e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221150
AA Change: T262A
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222067
AA Change: T209A
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222899
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223145
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambn |
G |
A |
5: 88,604,807 (GRCm39) |
V27M |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,578,015 (GRCm39) |
N222D |
probably damaging |
Het |
Bcas3 |
A |
T |
11: 85,422,756 (GRCm39) |
T542S |
probably damaging |
Het |
Btbd1 |
A |
T |
7: 81,455,507 (GRCm39) |
I288N |
probably damaging |
Het |
Ctps1 |
C |
T |
4: 120,399,776 (GRCm39) |
V500I |
possibly damaging |
Het |
Cul5 |
A |
C |
9: 53,546,337 (GRCm39) |
V345G |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,776 (GRCm39) |
Y215H |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 49,973,566 (GRCm39) |
M67K |
possibly damaging |
Het |
Egln2 |
C |
T |
7: 26,859,291 (GRCm39) |
E353K |
possibly damaging |
Het |
Fbxw5 |
G |
T |
2: 25,393,746 (GRCm39) |
A325S |
probably benign |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gaa |
A |
G |
11: 119,172,091 (GRCm39) |
*207W |
probably null |
Het |
Herc2 |
A |
G |
7: 55,856,492 (GRCm39) |
T3947A |
probably damaging |
Het |
Ifit2 |
T |
A |
19: 34,551,624 (GRCm39) |
I388N |
probably damaging |
Het |
Il17re |
A |
T |
6: 113,445,472 (GRCm39) |
|
probably benign |
Het |
Insrr |
T |
A |
3: 87,708,029 (GRCm39) |
L157Q |
probably damaging |
Het |
Kcnq2 |
T |
G |
2: 180,723,483 (GRCm39) |
Y631S |
probably damaging |
Het |
Lrrfip1 |
A |
G |
1: 91,039,890 (GRCm39) |
I198V |
probably benign |
Het |
Mir7684 |
A |
T |
15: 82,273,345 (GRCm39) |
|
probably benign |
Het |
Mphosph9 |
C |
T |
5: 124,398,150 (GRCm39) |
E1049K |
probably damaging |
Het |
Mroh1 |
G |
A |
15: 76,313,360 (GRCm39) |
R611Q |
probably benign |
Het |
Mynn |
A |
T |
3: 30,661,280 (GRCm39) |
I121F |
possibly damaging |
Het |
Ndrg2 |
G |
A |
14: 52,148,566 (GRCm39) |
R32C |
probably damaging |
Het |
Or2ab1 |
T |
C |
11: 58,488,630 (GRCm39) |
I138T |
probably benign |
Het |
Or4p7 |
A |
G |
2: 88,221,725 (GRCm39) |
I45V |
probably benign |
Het |
Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
Psd4 |
A |
G |
2: 24,291,756 (GRCm39) |
S652G |
probably damaging |
Het |
Psg25 |
C |
T |
7: 18,255,268 (GRCm39) |
R416H |
probably benign |
Het |
Pygm |
T |
A |
19: 6,438,301 (GRCm39) |
N171K |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,723 (GRCm39) |
D297E |
possibly damaging |
Het |
Selenov |
T |
A |
7: 27,990,004 (GRCm39) |
T167S |
probably benign |
Het |
Serpina10 |
T |
C |
12: 103,583,208 (GRCm39) |
Y358C |
probably damaging |
Het |
Slc27a3 |
T |
C |
3: 90,295,002 (GRCm39) |
R352G |
probably benign |
Het |
Snx33 |
T |
C |
9: 56,833,862 (GRCm39) |
D69G |
probably benign |
Het |
St8sia2 |
G |
T |
7: 73,616,594 (GRCm39) |
P127H |
probably damaging |
Het |
Thbd |
T |
C |
2: 148,248,401 (GRCm39) |
K489R |
probably benign |
Het |
Ttn |
A |
T |
2: 76,767,049 (GRCm39) |
C3039S |
probably damaging |
Het |
Vmn1r167 |
T |
C |
7: 23,204,261 (GRCm39) |
M252V |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
Zfp827 |
G |
A |
8: 79,906,708 (GRCm39) |
V907I |
probably damaging |
Het |
|
Other mutations in Ikzf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Ikzf4
|
APN |
10 |
128,470,416 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01649:Ikzf4
|
APN |
10 |
128,471,689 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02315:Ikzf4
|
APN |
10 |
128,470,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R0099:Ikzf4
|
UTSW |
10 |
128,470,066 (GRCm39) |
missense |
probably damaging |
0.97 |
R0200:Ikzf4
|
UTSW |
10 |
128,470,545 (GRCm39) |
missense |
probably damaging |
0.96 |
R0365:Ikzf4
|
UTSW |
10 |
128,470,276 (GRCm39) |
missense |
probably benign |
|
R0376:Ikzf4
|
UTSW |
10 |
128,468,625 (GRCm39) |
missense |
probably benign |
|
R0456:Ikzf4
|
UTSW |
10 |
128,471,677 (GRCm39) |
missense |
probably damaging |
0.98 |
R0536:Ikzf4
|
UTSW |
10 |
128,477,118 (GRCm39) |
missense |
probably benign |
0.09 |
R1731:Ikzf4
|
UTSW |
10 |
128,470,401 (GRCm39) |
missense |
probably benign |
0.03 |
R2017:Ikzf4
|
UTSW |
10 |
128,470,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R4158:Ikzf4
|
UTSW |
10 |
128,479,605 (GRCm39) |
intron |
probably benign |
|
R4160:Ikzf4
|
UTSW |
10 |
128,479,605 (GRCm39) |
intron |
probably benign |
|
R4623:Ikzf4
|
UTSW |
10 |
128,476,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R4789:Ikzf4
|
UTSW |
10 |
128,468,575 (GRCm39) |
missense |
probably benign |
0.00 |
R5008:Ikzf4
|
UTSW |
10 |
128,477,119 (GRCm39) |
missense |
probably benign |
0.03 |
R5432:Ikzf4
|
UTSW |
10 |
128,470,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R6091:Ikzf4
|
UTSW |
10 |
128,470,542 (GRCm39) |
missense |
probably benign |
0.15 |
R6445:Ikzf4
|
UTSW |
10 |
128,472,424 (GRCm39) |
splice site |
probably null |
|
R7204:Ikzf4
|
UTSW |
10 |
128,479,759 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7219:Ikzf4
|
UTSW |
10 |
128,470,252 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7239:Ikzf4
|
UTSW |
10 |
128,477,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7485:Ikzf4
|
UTSW |
10 |
128,468,451 (GRCm39) |
missense |
unknown |
|
R7710:Ikzf4
|
UTSW |
10 |
128,468,610 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7988:Ikzf4
|
UTSW |
10 |
128,470,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R9127:Ikzf4
|
UTSW |
10 |
128,468,487 (GRCm39) |
missense |
unknown |
|
R9352:Ikzf4
|
UTSW |
10 |
128,472,623 (GRCm39) |
missense |
probably benign |
0.22 |
Z1176:Ikzf4
|
UTSW |
10 |
128,470,099 (GRCm39) |
missense |
possibly damaging |
0.69 |
Z1177:Ikzf4
|
UTSW |
10 |
128,478,509 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2015-04-16 |