Incidental Mutation 'IGL00863:Il4i1'
| ID |
11450 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il4i1
|
| Ensembl Gene |
ENSMUSG00000074141 |
| Gene Name |
interleukin 4 induced 1 |
| Synonyms |
H4, Fig1, H-4, Fig1-ps, H-46, H46 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44485712-44490233 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 44487470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 148
(Y148*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033015]
[ENSMUST00000047085]
[ENSMUST00000118125]
[ENSMUST00000145959]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033015
AA Change: Y140*
|
| SMART Domains |
Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: Y140*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:AlaDh_PNT_C
|
42 |
93 |
1.3e-9 |
PFAM |
|
Pfam:Thi4
|
53 |
100 |
1.8e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
59 |
94 |
1.4e-7 |
PFAM |
|
Pfam:HI0933_like
|
59 |
161 |
1.3e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
60 |
100 |
1.5e-8 |
PFAM |
|
Pfam:Pyr_redox
|
60 |
100 |
1.9e-8 |
PFAM |
|
Pfam:Pyr_redox_2
|
60 |
125 |
7.3e-8 |
PFAM |
|
Pfam:DAO
|
60 |
140 |
2.8e-9 |
PFAM |
|
Pfam:NAD_binding_8
|
63 |
130 |
3.6e-17 |
PFAM |
|
Pfam:Amino_oxidase
|
68 |
503 |
9.9e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047085
|
| SMART Domains |
Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3548
|
3 |
217 |
8.2e-93 |
PFAM |
|
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
|
TBC
|
307 |
545 |
3.93e-54 |
SMART |
|
Blast:TBC
|
554 |
594 |
1e-6 |
BLAST |
|
low complexity region
|
597 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118125
AA Change: Y148*
|
| SMART Domains |
Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: Y148*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:AlaDh_PNT_C
|
47 |
111 |
6.6e-9 |
PFAM |
|
Pfam:Pyr_redox_2
|
47 |
111 |
2e-9 |
PFAM |
|
Pfam:HI0933_like
|
67 |
169 |
1.8e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
68 |
108 |
5e-8 |
PFAM |
|
Pfam:Pyr_redox
|
68 |
109 |
8.5e-8 |
PFAM |
|
Pfam:DAO
|
68 |
159 |
5.6e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
71 |
138 |
1.2e-15 |
PFAM |
|
Pfam:Amino_oxidase
|
76 |
511 |
5.9e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133279
|
| SMART Domains |
Protein: ENSMUSP00000133613
Gene: ENSMUSG00000074141
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1TDO|A
|
2 |
44 |
1e-8 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145959
|
| SMART Domains |
Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3548
|
3 |
217 |
5.8e-93 |
PFAM |
|
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
|
TBC
|
307 |
544 |
3.91e-40 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsn |
A |
G |
9: 107,992,521 (GRCm39) |
I1077T |
probably damaging |
Het |
| Car8 |
A |
G |
4: 8,183,251 (GRCm39) |
|
probably null |
Het |
| Ccdc192 |
A |
T |
18: 57,727,158 (GRCm39) |
E136V |
probably damaging |
Het |
| Ccny |
A |
T |
18: 9,345,444 (GRCm39) |
D143E |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,876,874 (GRCm39) |
V155A |
probably damaging |
Het |
| Cript |
T |
A |
17: 87,335,151 (GRCm39) |
I14N |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cyria |
A |
T |
12: 12,409,235 (GRCm39) |
I72F |
probably benign |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,776,175 (GRCm39) |
V60A |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,139 (GRCm39) |
E249D |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Grik2 |
A |
G |
10: 49,232,024 (GRCm39) |
V502A |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,450,009 (GRCm39) |
V2001A |
probably benign |
Het |
| Jmjd4 |
T |
C |
11: 59,341,569 (GRCm39) |
S113P |
probably benign |
Het |
| Nceh1 |
C |
T |
3: 27,295,462 (GRCm39) |
P241L |
probably damaging |
Het |
| Pals1 |
A |
G |
12: 78,856,595 (GRCm39) |
D146G |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,334,737 (GRCm39) |
D350E |
probably damaging |
Het |
| Pdgfrl |
A |
G |
8: 41,438,571 (GRCm39) |
E169G |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,225,283 (GRCm39) |
D128E |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,436,548 (GRCm39) |
V160A |
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,288,184 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,269 (GRCm39) |
N481Y |
probably damaging |
Het |
| Tas2r139 |
T |
G |
6: 42,118,055 (GRCm39) |
S62R |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,380 (GRCm39) |
T226S |
probably benign |
Het |
| Tvp23b |
C |
A |
11: 62,774,464 (GRCm39) |
A36E |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,076 (GRCm39) |
E301K |
probably benign |
Het |
|
| Other mutations in Il4i1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03366:Il4i1
|
APN |
7 |
44,486,919 (GRCm39) |
unclassified |
probably benign |
|
|
R0945:Il4i1
|
UTSW |
7 |
44,489,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1248:Il4i1
|
UTSW |
7 |
44,489,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Il4i1
|
UTSW |
7 |
44,488,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2099:Il4i1
|
UTSW |
7 |
44,487,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2131:Il4i1
|
UTSW |
7 |
44,489,494 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2212:Il4i1
|
UTSW |
7 |
44,486,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2516:Il4i1
|
UTSW |
7 |
44,489,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Il4i1
|
UTSW |
7 |
44,487,414 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3412:Il4i1
|
UTSW |
7 |
44,486,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3414:Il4i1
|
UTSW |
7 |
44,486,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5493:Il4i1
|
UTSW |
7 |
44,489,477 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6156:Il4i1
|
UTSW |
7 |
44,489,608 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6239:Il4i1
|
UTSW |
7 |
44,489,836 (GRCm39) |
missense |
probably benign |
|
|
R6422:Il4i1
|
UTSW |
7 |
44,489,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6813:Il4i1
|
UTSW |
7 |
44,489,236 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6866:Il4i1
|
UTSW |
7 |
44,485,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7543:Il4i1
|
UTSW |
7 |
44,486,199 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7673:Il4i1
|
UTSW |
7 |
44,489,786 (GRCm39) |
missense |
probably benign |
|
|
R7965:Il4i1
|
UTSW |
7 |
44,489,819 (GRCm39) |
missense |
probably benign |
|
|
R8848:Il4i1
|
UTSW |
7 |
44,489,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Il4i1
|
UTSW |
7 |
44,489,263 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9695:Il4i1
|
UTSW |
7 |
44,489,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9721:Il4i1
|
UTSW |
7 |
44,489,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation