Incidental Mutation 'R0945:Il4i1'
| ID |
82057 |
| 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 |
039084-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0945 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44485712-44490233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44489128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 306
(V306M)
|
| 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 damaging
Transcript: ENSMUST00000033015
AA Change: V298M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: V298M
| 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: V306M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: V306M
| 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 |
probably benign
Transcript: ENSMUST00000208714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149686
|
| 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 |
0.5480 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.1%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
A |
G |
16: 35,110,481 (GRCm39) |
M883V |
probably benign |
Het |
| Allc |
A |
G |
12: 28,609,962 (GRCm39) |
S212P |
probably benign |
Het |
| Anxa10 |
A |
G |
8: 62,513,279 (GRCm39) |
|
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,268 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
T |
C |
2: 166,668,889 (GRCm39) |
|
probably benign |
Het |
| Arhgap30 |
G |
T |
1: 171,230,854 (GRCm39) |
V204L |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,596,223 (GRCm39) |
V852E |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,481,269 (GRCm39) |
Y339N |
probably damaging |
Het |
| Chaf1a |
A |
G |
17: 56,374,441 (GRCm39) |
D876G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,630 (GRCm39) |
K197E |
possibly damaging |
Het |
| Cnr2 |
A |
T |
4: 135,644,632 (GRCm39) |
M237L |
probably benign |
Het |
| Dnm2 |
C |
A |
9: 21,416,956 (GRCm39) |
Q830K |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,310,500 (GRCm39) |
L1615P |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,497 (GRCm39) |
D129G |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,276,799 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,723,803 (GRCm39) |
Y1854C |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,723,138 (GRCm39) |
V54E |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,837,921 (GRCm39) |
D211G |
probably benign |
Het |
| Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
| Myrfl |
C |
T |
10: 116,639,299 (GRCm39) |
|
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,869,333 (GRCm39) |
I203V |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or14j9 |
G |
A |
17: 37,874,278 (GRCm39) |
T308I |
probably benign |
Het |
| Or4a15 |
T |
C |
2: 89,193,599 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,879 (GRCm39) |
N289K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,675,296 (GRCm39) |
L345P |
probably damaging |
Het |
| Pex3 |
C |
A |
10: 13,418,420 (GRCm39) |
A79S |
probably benign |
Het |
| Pla2r1 |
A |
C |
2: 60,288,754 (GRCm39) |
L626R |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,932,246 (GRCm39) |
S1107P |
probably damaging |
Het |
| Ppcdc |
C |
T |
9: 57,327,441 (GRCm39) |
|
probably null |
Het |
| Rbak |
A |
T |
5: 143,159,334 (GRCm39) |
F573Y |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,436,052 (GRCm39) |
|
probably null |
Het |
| Rpl13 |
C |
T |
8: 123,831,913 (GRCm39) |
A203V |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,913,668 (GRCm39) |
H1020R |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,251,590 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,757,333 (GRCm39) |
L905S |
possibly damaging |
Het |
| Tmem59 |
T |
A |
4: 107,044,922 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uri1 |
A |
T |
7: 37,669,103 (GRCm39) |
D127E |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,269,476 (GRCm39) |
E489G |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zfp941 |
C |
T |
7: 140,391,577 (GRCm39) |
R594H |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,983 (GRCm39) |
D594G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGTGATACAGGGCTCAGCAGG -3'
(R):5'- GATGTGCTCCTCGTGCCAGAAG -3'
Sequencing Primer
(F):5'- TTGCAGAAGCCTTACGTGC -3'
(R):5'- GGCCGACGGAAACTCAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation