Incidental Mutation 'R6445:Ikzf4'
ID |
519167 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ikzf4
|
Ensembl Gene |
ENSMUSG00000002578 |
Gene Name |
IKAROS family zinc finger 4 |
Synonyms |
Zfpn1a4, A630026H08Rik, Eos |
MMRRC Submission |
044388-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6445 (G1)
|
Quality Score |
146.008 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
128466712-128505227 bp(-) (GRCm39) |
Type of Mutation |
splice site (86 bp from exon) |
DNA Base Change (assembly) |
C to A
at 128472424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133342]
[ENSMUST00000221150]
[ENSMUST00000222067]
[ENSMUST00000223162]
|
AlphaFold |
Q8C208 |
Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000221150
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222067
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222899
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223145
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223162
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
BC061237 |
C |
A |
14: 44,738,731 (GRCm39) |
D43E |
probably benign |
Het |
Cdh22 |
T |
C |
2: 165,012,612 (GRCm39) |
I158V |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,052,860 (GRCm39) |
I1676V |
probably benign |
Het |
Crem |
T |
C |
18: 3,309,671 (GRCm39) |
Y18C |
probably benign |
Het |
Cyp2b9 |
A |
G |
7: 25,886,412 (GRCm39) |
I146V |
probably benign |
Het |
Efcab14 |
C |
A |
4: 115,613,668 (GRCm39) |
H205Q |
possibly damaging |
Het |
Efcab6 |
T |
C |
15: 83,752,558 (GRCm39) |
Y1437C |
probably damaging |
Het |
Gm3055 |
T |
A |
10: 81,945,506 (GRCm39) |
N375K |
possibly damaging |
Het |
Gm36864 |
A |
T |
7: 43,886,842 (GRCm39) |
Q245L |
possibly damaging |
Het |
Gna11 |
A |
T |
10: 81,369,167 (GRCm39) |
I132N |
probably damaging |
Het |
Il9r |
C |
T |
11: 32,141,000 (GRCm39) |
G346D |
possibly damaging |
Het |
Krt71 |
C |
T |
15: 101,648,775 (GRCm39) |
R190Q |
probably benign |
Het |
Mfsd8 |
T |
C |
3: 40,791,553 (GRCm39) |
I54V |
probably damaging |
Het |
Nktr |
G |
T |
9: 121,577,480 (GRCm39) |
|
probably benign |
Het |
Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
Or5ac17 |
A |
T |
16: 59,036,472 (GRCm39) |
F168Y |
probably damaging |
Het |
Peli2 |
T |
C |
14: 48,493,905 (GRCm39) |
S376P |
possibly damaging |
Het |
Pik3r2 |
C |
T |
8: 71,224,670 (GRCm39) |
A202T |
probably benign |
Het |
Pms1 |
A |
T |
1: 53,231,353 (GRCm39) |
I832K |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,124,212 (GRCm39) |
K2765E |
probably benign |
Het |
Rp1 |
A |
T |
1: 4,296,840 (GRCm39) |
N744K |
unknown |
Het |
Smcr8 |
T |
C |
11: 60,669,841 (GRCm39) |
Y330H |
possibly damaging |
Het |
Sned1 |
A |
T |
1: 93,211,318 (GRCm39) |
R281S |
possibly damaging |
Het |
Synm |
A |
G |
7: 67,383,393 (GRCm39) |
V1423A |
probably benign |
Het |
Syt10 |
G |
A |
15: 89,698,471 (GRCm39) |
T291I |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,744,880 (GRCm39) |
|
probably benign |
Het |
Wdr3 |
T |
C |
3: 100,063,719 (GRCm39) |
T186A |
possibly damaging |
Het |
Zfp451 |
A |
C |
1: 33,812,092 (GRCm39) |
D874E |
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 |
|
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 |
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'- TGCCAAGAATCATCGTACATGTC -3'
(R):5'- AACAGCAAAGTACCCTGGAG -3'
Sequencing Primer
(F):5'- GAATCATCGTACATGTCCAGCC -3'
(R):5'- AGTACCCTGGAGGAGCAC -3'
|
Posted On |
2018-05-24 |