Incidental Mutation 'IGL01649:Ikzf4'
ID |
102777 |
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 # |
IGL01649
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128466712-128505227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 128471689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 323
(R323C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133342]
[ENSMUST00000221150]
[ENSMUST00000222067]
[ENSMUST00000223162]
|
AlphaFold |
Q8C208 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065334
AA Change: R323C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066991 Gene: ENSMUSG00000002578 AA Change: R323C
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 |
probably damaging
Transcript: ENSMUST00000119614
AA Change: R270C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113478 Gene: ENSMUSG00000002578 AA Change: R270C
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: R323C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114404 Gene: ENSMUSG00000002578 AA Change: R323C
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: R323C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222067
AA Change: R270C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222901
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
A |
G |
9: 46,217,116 (GRCm39) |
S220P |
probably benign |
Het |
Adam18 |
T |
C |
8: 25,104,912 (GRCm39) |
N634S |
possibly damaging |
Het |
Arhgef18 |
T |
A |
8: 3,491,211 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,911,541 (GRCm39) |
S1518G |
probably benign |
Het |
Cltc |
A |
G |
11: 86,617,226 (GRCm39) |
V341A |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,188,759 (GRCm39) |
V1721A |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,809,553 (GRCm39) |
I274F |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,379,139 (GRCm39) |
L622Q |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,176,821 (GRCm39) |
D1960G |
probably damaging |
Het |
Fat3 |
T |
C |
9: 16,288,015 (GRCm39) |
T503A |
possibly damaging |
Het |
Glb1 |
A |
G |
9: 114,253,016 (GRCm39) |
Y73C |
probably damaging |
Het |
Gm9396 |
G |
T |
3: 129,862,268 (GRCm39) |
|
noncoding transcript |
Het |
Gml2 |
G |
T |
15: 74,696,070 (GRCm39) |
E155* |
probably null |
Het |
Kiz |
A |
G |
2: 146,731,229 (GRCm39) |
T240A |
probably benign |
Het |
Lzts3 |
T |
C |
2: 130,477,351 (GRCm39) |
K480E |
probably damaging |
Het |
Mcm7 |
T |
C |
5: 138,167,698 (GRCm39) |
H105R |
probably damaging |
Het |
Mpdz |
A |
G |
4: 81,221,870 (GRCm39) |
L1464P |
probably damaging |
Het |
Mrgpra9 |
A |
C |
7: 46,884,900 (GRCm39) |
L256V |
probably benign |
Het |
Mrpl40 |
T |
C |
16: 18,691,329 (GRCm39) |
Q127R |
probably benign |
Het |
Myom2 |
G |
T |
8: 15,163,755 (GRCm39) |
R1003L |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,225,477 (GRCm39) |
T1806A |
probably damaging |
Het |
Or10x4 |
T |
C |
1: 174,218,974 (GRCm39) |
L113P |
probably damaging |
Het |
Pibf1 |
A |
T |
14: 99,425,199 (GRCm39) |
Y562F |
possibly damaging |
Het |
Potefam1 |
A |
T |
2: 111,044,921 (GRCm39) |
|
probably benign |
Het |
Ppm1n |
A |
T |
7: 19,012,122 (GRCm39) |
|
probably benign |
Het |
Psg17 |
A |
G |
7: 18,550,727 (GRCm39) |
V376A |
possibly damaging |
Het |
Septin8 |
T |
A |
11: 53,425,855 (GRCm39) |
F143I |
possibly damaging |
Het |
Sestd1 |
A |
G |
2: 77,029,389 (GRCm39) |
Y330H |
probably damaging |
Het |
Sntg1 |
C |
T |
1: 8,752,193 (GRCm39) |
|
probably benign |
Het |
Stpg2 |
C |
A |
3: 139,125,623 (GRCm39) |
P472Q |
probably damaging |
Het |
Thbs1 |
A |
G |
2: 117,945,463 (GRCm39) |
K314R |
probably benign |
Het |
Vav3 |
T |
C |
3: 109,470,078 (GRCm39) |
Y508H |
probably benign |
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 |
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 |
2014-01-21 |