Incidental Mutation 'R5432:Ikzf4'
ID |
428106 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ikzf4
|
Ensembl Gene |
ENSMUSG00000002578 |
Gene Name |
IKAROS family zinc finger 4 |
Synonyms |
Zfpn1a4, A630026H08Rik, Eos |
MMRRC Submission |
042997-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5432 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
128466712-128505227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128470047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 491
(V491A)
|
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: V544A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066991 Gene: ENSMUSG00000002578 AA Change: V544A
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: V491A
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: V544A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114404 Gene: ENSMUSG00000002578 AA Change: V544A
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: V544A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222067
AA Change: V491A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223162
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdhppt |
G |
A |
9: 4,309,349 (GRCm39) |
R30* |
probably null |
Het |
Abca9 |
G |
A |
11: 110,032,380 (GRCm39) |
R746W |
possibly damaging |
Het |
Akap13 |
A |
G |
7: 75,252,578 (GRCm39) |
E236G |
probably damaging |
Het |
Asb4 |
A |
C |
6: 5,430,912 (GRCm39) |
R382S |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,178,814 (GRCm39) |
S2458P |
probably benign |
Het |
Bspry |
T |
C |
4: 62,400,952 (GRCm39) |
V148A |
probably benign |
Het |
Cacna2d3 |
A |
C |
14: 28,665,512 (GRCm39) |
|
probably null |
Het |
Cblb |
T |
A |
16: 51,963,228 (GRCm39) |
H390Q |
probably damaging |
Het |
Cct8l1 |
T |
C |
5: 25,721,305 (GRCm39) |
S7P |
possibly damaging |
Het |
Cep295 |
T |
C |
9: 15,262,991 (GRCm39) |
T191A |
possibly damaging |
Het |
Cts8 |
A |
C |
13: 61,398,826 (GRCm39) |
F227V |
probably benign |
Het |
Elac1 |
T |
C |
18: 73,875,864 (GRCm39) |
T56A |
possibly damaging |
Het |
Fjx1 |
T |
C |
2: 102,280,864 (GRCm39) |
N357S |
possibly damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,069 (GRCm39) |
T453A |
probably damaging |
Het |
Hcls1 |
G |
A |
16: 36,781,910 (GRCm39) |
E340K |
probably benign |
Het |
Hrc |
C |
A |
7: 44,986,285 (GRCm39) |
H479N |
possibly damaging |
Het |
Kalrn |
A |
G |
16: 33,873,992 (GRCm39) |
S138P |
probably damaging |
Het |
Lama3 |
G |
T |
18: 12,705,123 (GRCm39) |
D3062Y |
probably damaging |
Het |
Lcor |
A |
G |
19: 41,573,042 (GRCm39) |
E599G |
probably damaging |
Het |
Llgl1 |
T |
C |
11: 60,598,449 (GRCm39) |
S442P |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,353,129 (GRCm39) |
K1517* |
probably null |
Het |
Myo9a |
A |
T |
9: 59,772,953 (GRCm39) |
Y995F |
possibly damaging |
Het |
Nek3 |
A |
C |
8: 22,638,748 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
G |
14: 56,101,923 (GRCm39) |
T531A |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2m12 |
A |
T |
16: 19,104,839 (GRCm39) |
I218N |
probably benign |
Het |
Pdia4 |
A |
G |
6: 47,775,400 (GRCm39) |
V470A |
possibly damaging |
Het |
Pinlyp |
T |
C |
7: 24,241,892 (GRCm39) |
D105G |
probably damaging |
Het |
Pla2g6 |
A |
G |
15: 79,186,817 (GRCm39) |
|
probably null |
Het |
Plpp7 |
A |
G |
2: 31,985,932 (GRCm39) |
S37G |
probably benign |
Het |
Prdm11 |
G |
T |
2: 92,806,158 (GRCm39) |
P264Q |
probably benign |
Het |
Rbl2 |
G |
T |
8: 91,828,911 (GRCm39) |
R604L |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,500,584 (GRCm39) |
T115A |
probably benign |
Het |
Samd4 |
A |
G |
14: 47,311,519 (GRCm39) |
Q279R |
probably benign |
Het |
Sdha |
G |
T |
13: 74,475,068 (GRCm39) |
A591D |
probably damaging |
Het |
Secisbp2 |
AAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCA |
13: 51,828,002 (GRCm39) |
|
probably benign |
Het |
Sephs2 |
G |
A |
7: 126,872,977 (GRCm39) |
R39W |
probably damaging |
Het |
Serpina3f |
T |
C |
12: 104,186,577 (GRCm39) |
I381T |
possibly damaging |
Het |
Shd |
A |
T |
17: 56,283,214 (GRCm39) |
Q281L |
probably damaging |
Het |
Sik3 |
A |
G |
9: 46,034,539 (GRCm39) |
S98G |
probably benign |
Het |
Srgap1 |
T |
A |
10: 121,705,728 (GRCm39) |
N232I |
probably damaging |
Het |
Thbs1 |
A |
T |
2: 117,945,164 (GRCm39) |
N246Y |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,368,022 (GRCm39) |
|
probably null |
Het |
Vwde |
A |
G |
6: 13,190,591 (GRCm39) |
M500T |
probably damaging |
Het |
Wdr72 |
T |
G |
9: 74,183,228 (GRCm39) |
S1053R |
probably damaging |
Het |
Yif1b |
T |
C |
7: 28,945,393 (GRCm39) |
C192R |
probably damaging |
Het |
Zc3h13 |
A |
G |
14: 75,568,687 (GRCm39) |
S1327G |
probably damaging |
Het |
Zfp1004 |
A |
G |
2: 150,033,901 (GRCm39) |
N74S |
possibly 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 |
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'- AACAGGAATTGGGCTAGACC -3'
(R):5'- CAACCACGAAGACCGGATTG -3'
Sequencing Primer
(F):5'- GCTAGACCCCTGTAGGTAGG -3'
(R):5'- GGGTGGTATCCCTTCCTCAG -3'
|
Posted On |
2016-09-01 |