Incidental Mutation 'IGL00162:Ikzf4'
| ID |
1210 |
| 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 # |
IGL00162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128466712-128505227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128470416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 368
(E368G)
|
| 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: E421G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: E421G
| 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: E368G
| 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 |
probably benign
Transcript: ENSMUST00000133342
AA Change: E421G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: E421G
| 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 |
probably benign
Transcript: ENSMUST00000221150
AA Change: E421G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222067
AA Change: E368G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223162
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cc2d1b |
T |
G |
4: 108,484,575 (GRCm39) |
L470R |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,892,162 (GRCm39) |
N275K |
possibly damaging |
Het |
| Col22a1 |
A |
G |
15: 71,732,807 (GRCm39) |
|
probably null |
Het |
| Cyb561 |
T |
C |
11: 105,826,662 (GRCm39) |
H197R |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,080 (GRCm39) |
S22P |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,365,286 (GRCm39) |
|
probably benign |
Het |
| Fgf6 |
A |
T |
6: 127,001,048 (GRCm39) |
K185N |
possibly damaging |
Het |
| Fshr |
T |
C |
17: 89,293,619 (GRCm39) |
N353S |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,359,335 (GRCm39) |
Y103* |
probably null |
Het |
| Gm7247 |
G |
A |
14: 51,760,962 (GRCm39) |
C177Y |
possibly damaging |
Het |
| Hikeshi |
A |
G |
7: 89,584,989 (GRCm39) |
F72L |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,942,462 (GRCm39) |
E851G |
probably benign |
Het |
| Kif3b |
A |
G |
2: 153,159,051 (GRCm39) |
D284G |
probably damaging |
Het |
| Kyat3 |
G |
A |
3: 142,440,235 (GRCm39) |
A320T |
probably benign |
Het |
| Mok |
C |
T |
12: 110,774,631 (GRCm39) |
|
probably benign |
Het |
| Mrgpra3 |
A |
G |
7: 47,239,267 (GRCm39) |
F220L |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,168,780 (GRCm39) |
V272A |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,407 (GRCm39) |
H192R |
probably benign |
Het |
| Or2ag19 |
A |
G |
7: 106,444,574 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,299,280 (GRCm39) |
|
probably null |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Ptpn12 |
T |
C |
5: 21,234,848 (GRCm39) |
E45G |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,027,694 (GRCm39) |
*516R |
probably null |
Het |
| Rps23rg1 |
A |
G |
8: 3,633,904 (GRCm39) |
T2A |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,023,892 (GRCm39) |
D385G |
probably damaging |
Het |
| Siglech |
T |
C |
7: 55,422,339 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,639,274 (GRCm39) |
L212P |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,772,668 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
T |
2: 26,259,324 (GRCm39) |
C609S |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,707,979 (GRCm39) |
T139A |
possibly damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,570,319 (GRCm39) |
T478A |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,853,727 (GRCm39) |
S198P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,720,823 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
G |
A |
1: 74,463,034 (GRCm39) |
E406K |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,483 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
G |
4: 108,499,304 (GRCm39) |
V1338A |
possibly damaging |
Het |
|
| Other mutations in Ikzf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01649:Ikzf4
|
APN |
10 |
128,471,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02261:Ikzf4
|
APN |
10 |
128,472,591 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
2011-07-12 |
Incidental Mutation