Incidental Mutation 'R3414:Il4i1'
| ID |
266732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il4i1
|
| Ensembl Gene |
ENSMUSG00000074141 |
| Gene Name |
interleukin 4 induced 1 |
| Synonyms |
H4, Fig1, H-4, Fig1-ps, H-46, H46 |
| MMRRC Submission |
040632-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44485712-44490233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44486082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 22
(L22P)
|
| 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 |
unknown
Transcript: ENSMUST00000033015
AA Change: L14P
|
| SMART Domains |
Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: L14P
| 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 damaging
Transcript: ENSMUST00000118125
AA Change: L22P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: L22P
| 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 |
noncoding transcript
Transcript: ENSMUST00000149779
|
| 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 |
|
| Meta Mutation Damage Score |
0.6385 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (42/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
| Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,533,129 (GRCm39) |
T261K |
possibly damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,389,204 (GRCm39) |
V1178A |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,489,878 (GRCm39) |
N177S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,083,807 (GRCm39) |
K621E |
probably damaging |
Het |
| Eef2 |
G |
T |
10: 81,013,692 (GRCm39) |
R66L |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,108,179 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
| Ifi202b |
A |
G |
1: 173,791,479 (GRCm39) |
S400P |
probably benign |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Il7 |
G |
T |
3: 7,641,093 (GRCm39) |
Q67K |
probably benign |
Het |
| Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
| Klk1b26 |
A |
G |
7: 43,666,297 (GRCm39) |
I247V |
probably benign |
Het |
| Klrc1 |
A |
G |
6: 129,654,726 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,044,598 (GRCm39) |
C166R |
probably damaging |
Het |
| Mrps5 |
A |
G |
2: 127,438,832 (GRCm39) |
D219G |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,501,100 (GRCm39) |
T806A |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,325,771 (GRCm39) |
R46* |
probably null |
Het |
| Nos2 |
A |
T |
11: 78,848,414 (GRCm39) |
Y1107F |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,190,047 (GRCm39) |
I135T |
probably damaging |
Het |
| Or13c7b |
C |
T |
4: 43,821,258 (GRCm39) |
M34I |
probably benign |
Het |
| Or2d4 |
G |
T |
7: 106,543,383 (GRCm39) |
S275* |
probably null |
Het |
| Or6c65 |
A |
G |
10: 129,604,301 (GRCm39) |
H312R |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,158,142 (GRCm39) |
S252R |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,738 (GRCm39) |
T310S |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,386,305 (GRCm39) |
L227Q |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,620,285 (GRCm39) |
N456Y |
probably damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,234,658 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,696 (GRCm39) |
M205K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,468,883 (GRCm39) |
K3014E |
probably damaging |
Het |
|
| Other mutations in Il4i1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Il4i1
|
APN |
7 |
44,487,470 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTCTTCACTCAGACAGCAGC -3'
(R):5'- GACTACAGGCAGCACTTCTC -3'
Sequencing Primer
(F):5'- AGACAGCAGCTGCCACTTGAG -3'
(R):5'- GCATCACTGAGCATCTTGGCTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation