Incidental Mutation 'R0536:Ikzf4'
ID |
49463 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ikzf4
|
Ensembl Gene |
ENSMUSG00000002578 |
Gene Name |
IKAROS family zinc finger 4 |
Synonyms |
Zfpn1a4, A630026H08Rik, Eos |
MMRRC Submission |
038728-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0536 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128466712-128505227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128477118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 64
(E64D)
|
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: E117D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066991 Gene: ENSMUSG00000002578 AA Change: E117D
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 benign
Transcript: ENSMUST00000119614
AA Change: E64D
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000113478 Gene: ENSMUSG00000002578 AA Change: E64D
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: E117D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114404 Gene: ENSMUSG00000002578 AA Change: E117D
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
AA Change: E117D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222067
AA Change: E64D
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222899
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223145
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222901
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223162
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
100% (29/29) |
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 |
Acaca |
T |
C |
11: 84,171,342 (GRCm39) |
|
probably benign |
Het |
Agrn |
A |
T |
4: 156,264,010 (GRCm39) |
D84E |
probably benign |
Het |
Akap11 |
A |
G |
14: 78,751,464 (GRCm39) |
S308P |
probably damaging |
Het |
Atp6v1c2 |
A |
T |
12: 17,357,509 (GRCm39) |
|
probably null |
Het |
AW209491 |
A |
G |
13: 14,811,558 (GRCm39) |
Y137C |
probably damaging |
Het |
Chst9 |
G |
A |
18: 15,628,387 (GRCm39) |
|
probably benign |
Het |
Dok7 |
A |
G |
5: 35,223,826 (GRCm39) |
T122A |
probably damaging |
Het |
Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
Kif21a |
C |
A |
15: 90,843,886 (GRCm39) |
|
probably benign |
Het |
Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,658,951 (GRCm39) |
R2036C |
probably damaging |
Het |
Lrba |
T |
A |
3: 86,622,839 (GRCm39) |
V311D |
probably damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Mylk |
T |
C |
16: 34,820,757 (GRCm39) |
V1903A |
possibly damaging |
Het |
Naa30 |
C |
T |
14: 49,410,534 (GRCm39) |
A154V |
possibly damaging |
Het |
Or2ag1 |
T |
A |
7: 106,313,528 (GRCm39) |
Y120F |
probably damaging |
Het |
Or52z12 |
T |
C |
7: 103,233,468 (GRCm39) |
S80P |
probably damaging |
Het |
Or8g24 |
G |
T |
9: 38,989,625 (GRCm39) |
Q139K |
probably benign |
Het |
Pgm3 |
C |
T |
9: 86,449,589 (GRCm39) |
V144M |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,701,927 (GRCm39) |
S211C |
probably damaging |
Het |
Setx |
T |
C |
2: 29,048,260 (GRCm39) |
Y1954H |
possibly damaging |
Het |
Sorcs3 |
C |
T |
19: 48,791,137 (GRCm39) |
Q1162* |
probably null |
Het |
Sptbn2 |
T |
A |
19: 4,776,718 (GRCm39) |
D255E |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,145,435 (GRCm39) |
E597G |
probably damaging |
Het |
Vldlr |
G |
A |
19: 27,217,364 (GRCm39) |
A436T |
probably damaging |
Het |
Wdr72 |
G |
A |
9: 74,064,690 (GRCm39) |
G574D |
probably damaging |
Het |
Zzz3 |
T |
G |
3: 152,154,465 (GRCm39) |
I572S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTTGGGTTTACTCACCAGTGTG -3'
(R):5'- AATAAACAGGCCGTTGTCCCTCC -3'
Sequencing Primer
(F):5'- CTTGTGTACCATGAGCACATTG -3'
(R):5'- GTTGTCCCTCCTGACACTTG -3'
|
Posted On |
2013-06-12 |