Incidental Mutation 'R7965:Il4i1'
| ID |
650319 |
| 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 |
046008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44485712-44490233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44489819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 528
(Q528R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033015]
[ENSMUST00000047085]
[ENSMUST00000118125]
[ENSMUST00000145959]
[ENSMUST00000207293]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033015
AA Change: Q528R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: Q528R
| 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 benign
Transcript: ENSMUST00000118125
AA Change: Q536R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: Q536R
| 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 |
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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
A |
G |
18: 36,791,465 (GRCm39) |
T154A |
|
Het |
| Arhgap21 |
A |
G |
2: 20,854,007 (GRCm39) |
I1795T |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,850,762 (GRCm39) |
V436A |
probably benign |
Het |
| Bche |
A |
T |
3: 73,609,149 (GRCm39) |
N92K |
probably damaging |
Het |
| Bmp2 |
C |
T |
2: 133,403,105 (GRCm39) |
H219Y |
probably benign |
Het |
| Cables1 |
T |
G |
18: 11,973,269 (GRCm39) |
V136G |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,769,270 (GRCm39) |
R1887* |
probably null |
Het |
| Chrd |
A |
G |
16: 20,557,903 (GRCm39) |
E774G |
probably benign |
Het |
| Chrna2 |
A |
G |
14: 66,388,525 (GRCm39) |
*513W |
probably null |
Het |
| Cracr2b |
T |
C |
7: 141,044,161 (GRCm39) |
F131S |
probably damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,523 (GRCm39) |
I545N |
possibly damaging |
Het |
| Enpp3 |
T |
A |
10: 24,654,717 (GRCm39) |
T654S |
possibly damaging |
Het |
| Glce |
A |
G |
9: 61,968,228 (GRCm39) |
S308P |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hmmr |
A |
C |
11: 40,606,256 (GRCm39) |
|
probably null |
Het |
| Hoxb9 |
A |
G |
11: 96,165,464 (GRCm39) |
N178D |
probably benign |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,595 (GRCm39) |
F82I |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,702,578 (GRCm39) |
K99* |
probably null |
Het |
| Inhba |
G |
T |
13: 16,201,572 (GRCm39) |
G378V |
possibly damaging |
Het |
| Katna1 |
T |
C |
10: 7,614,623 (GRCm39) |
S44P |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Mgat4d |
T |
C |
8: 84,084,722 (GRCm39) |
V155A |
possibly damaging |
Het |
| Morc2b |
C |
T |
17: 33,354,746 (GRCm39) |
E1009K |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,695,721 (GRCm39) |
L341H |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,129,216 (GRCm39) |
D716N |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,796,953 (GRCm39) |
|
probably benign |
Het |
| Or5t16 |
A |
G |
2: 86,818,707 (GRCm39) |
V271A |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,810 (GRCm39) |
V69I |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,338,815 (GRCm39) |
H4R |
probably benign |
Het |
| Ppp1r37 |
T |
C |
7: 19,265,868 (GRCm39) |
T633A |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,258,302 (GRCm39) |
K576E |
probably damaging |
Het |
| Prl2c5 |
G |
T |
13: 13,360,469 (GRCm39) |
M45I |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,223,824 (GRCm39) |
G397* |
probably null |
Het |
| Rnf44 |
A |
G |
13: 54,830,667 (GRCm39) |
S247P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,336,555 (GRCm39) |
F684L |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,502,648 (GRCm39) |
M286K |
probably benign |
Het |
| Slc39a9 |
G |
A |
12: 80,713,450 (GRCm39) |
G116D |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,762,621 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tmem161a |
C |
T |
8: 70,630,154 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,853,474 (GRCm39) |
H1831Q |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,667,614 (GRCm39) |
H792Q |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,720,542 (GRCm39) |
Q936R |
possibly damaging |
Het |
| Usp53 |
A |
T |
3: 122,756,531 (GRCm39) |
|
probably null |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,696 (GRCm39) |
C271* |
probably null |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,071 (GRCm39) |
M547L |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,332,800 (GRCm39) |
T254M |
probably damaging |
Het |
| Zc3h4 |
T |
C |
7: 16,163,770 (GRCm39) |
F655S |
unknown |
Het |
| Zfp605 |
G |
A |
5: 110,275,316 (GRCm39) |
G145S |
probably benign |
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 |
|
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 |
|
|
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'- AGGACTATGACTGGTCAGCC -3'
(R):5'- CACCTGTACATGCTCCGAAG -3'
Sequencing Primer
(F):5'- ATGACTGGTCAGCCCCCTTC -3'
(R):5'- TTCTCCTGGGGGACAGTCTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation