Incidental Mutation 'R4160:Ikzf4'
ID |
315707 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ikzf4
|
Ensembl Gene |
ENSMUSG00000002578 |
Gene Name |
IKAROS family zinc finger 4 |
Synonyms |
Zfpn1a4, A630026H08Rik, Eos |
MMRRC Submission |
041003-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4160 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128466712-128505227 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 128479605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133342]
[ENSMUST00000221150]
[ENSMUST00000223162]
[ENSMUST00000222067]
|
AlphaFold |
Q8C208 |
Predicted Effect |
unknown
Transcript: ENSMUST00000105233
AA Change: C71S
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133342
|
SMART Domains |
Protein: ENSMUSP00000114404 Gene: ENSMUSG00000002578
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 |
noncoding transcript
Transcript: ENSMUST00000149762
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180875
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221150
|
Predicted Effect |
unknown
Transcript: ENSMUST00000223162
AA Change: C71S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222899
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223145
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222067
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222901
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
89% (34/38) |
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 |
Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
Cacnb3 |
G |
T |
15: 98,538,601 (GRCm39) |
G148C |
probably damaging |
Het |
Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
D130043K22Rik |
A |
C |
13: 25,046,679 (GRCm39) |
E360D |
probably benign |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,585,143 (GRCm39) |
E1167G |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,255,636 (GRCm39) |
|
probably benign |
Het |
Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pdia3 |
A |
T |
2: 121,244,596 (GRCm39) |
D26V |
probably damaging |
Het |
Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
Pkn2 |
G |
A |
3: 142,509,325 (GRCm39) |
P740S |
probably benign |
Het |
Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
Pld2 |
T |
C |
11: 70,432,253 (GRCm39) |
L124P |
probably damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
Prr36 |
G |
T |
8: 4,262,910 (GRCm39) |
Q919K |
probably benign |
Het |
Ptpn1 |
T |
C |
2: 167,809,731 (GRCm39) |
I113T |
probably benign |
Het |
Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
Rbl1 |
A |
G |
2: 157,034,039 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGAAAACATGAGTGCCTTC -3'
(R):5'- CTTCCCACTGACCAAAGCTG -3'
Sequencing Primer
(F):5'- TGAGTGCCTTCAAAAATCCCC -3'
(R):5'- CCAGGACTCCAACCATTTTATAATG -3'
|
Posted On |
2015-05-14 |