Incidental Mutation 'IGL02315:Ikzf4'
| ID |
287995 |
| 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 # |
IGL02315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128466712-128505227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128470014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 502
(F502S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133342]
[ENSMUST00000221150]
[ENSMUST00000222067]
[ENSMUST00000223162]
|
| AlphaFold |
Q8C208 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065334
AA Change: F555S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: F555S
| 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: F502S
| 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 damaging
Transcript: ENSMUST00000133342
AA Change: F555S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: F555S
| 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 damaging
Transcript: ENSMUST00000221150
AA Change: F555S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222067
AA Change: F502S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,185 (GRCm39) |
I162F |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,524,475 (GRCm39) |
D607G |
probably benign |
Het |
| Ap2b1 |
G |
A |
11: 83,227,625 (GRCm39) |
V327I |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,563,290 (GRCm39) |
V218A |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,668,177 (GRCm39) |
D421V |
probably benign |
Het |
| Ctsm |
A |
G |
13: 61,687,462 (GRCm39) |
V100A |
probably benign |
Het |
| Cwf19l2 |
C |
T |
9: 3,410,030 (GRCm39) |
T53I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,237,746 (GRCm39) |
C3663R |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,062,469 (GRCm39) |
H19L |
probably benign |
Het |
| Ghitm |
A |
T |
14: 36,853,521 (GRCm39) |
N106K |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,006,983 (GRCm39) |
F1194L |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,955,386 (GRCm39) |
|
probably benign |
Het |
| Ighv1-67 |
C |
T |
12: 115,567,687 (GRCm39) |
G56D |
probably benign |
Het |
| Lrrc24 |
A |
T |
15: 76,602,506 (GRCm39) |
F126L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,218,904 (GRCm39) |
R355Q |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,817,126 (GRCm39) |
V65E |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,191,291 (GRCm39) |
E850G |
probably damaging |
Het |
| Myh9 |
C |
A |
15: 77,654,173 (GRCm39) |
V1211L |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,297,744 (GRCm39) |
D764V |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,789,353 (GRCm39) |
V294I |
probably damaging |
Het |
| Parp6 |
A |
G |
9: 59,549,021 (GRCm39) |
|
probably benign |
Het |
| Ppp4r4 |
C |
T |
12: 103,566,620 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,624,498 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
A |
G |
9: 96,721,196 (GRCm39) |
L56P |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,050,816 (GRCm39) |
|
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,254,849 (GRCm39) |
S210P |
possibly damaging |
Het |
| Slit2 |
C |
T |
5: 48,145,213 (GRCm39) |
T71M |
probably damaging |
Het |
| Spem2 |
A |
T |
11: 69,708,191 (GRCm39) |
L258Q |
probably damaging |
Het |
| Stxbp2 |
C |
T |
8: 3,685,607 (GRCm39) |
|
probably benign |
Het |
| Vit |
G |
A |
17: 78,930,087 (GRCm39) |
V351I |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,057,549 (GRCm39) |
S285P |
probably damaging |
Het |
| Zzef1 |
A |
T |
11: 72,766,083 (GRCm39) |
R1537* |
probably null |
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 |
|
IGL02261:Ikzf4
|
APN |
10 |
128,472,591 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
Incidental Mutation