Incidental Mutation 'R1248:Il4i1'
| ID |
244127 |
| 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 |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
77 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44485712-44490233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44489213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 334
(R334L)
|
| 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: R326L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: R326L
| 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: R334L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: R334L
| 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: ENSMUST00000153161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
| 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 |
0.3026 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
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 |
|
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'- TGTAGGTACAGCCGCATCGTAGG -3'
(R):5'- ACCAGTCATAGTCCTCAGCCTCGC -3'
Sequencing Primer
(F):5'- CATCGTAGGTGGCTGGGAC -3'
(R):5'- AAACGCAGGGTCTGGTC -3'
|
| Posted On |
2014-10-20 |
Incidental Mutation