Mutagenetix > Incidental Mutation

Incidental Mutation 'R5493:Il4i1'

432176

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

043054-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5493 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

44485712-44490233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44489477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 414 (R414L)

Ref Sequence

ENSEMBL: ENSMUSP00000033015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033015] [ENSMUST00000047085] [ENSMUST00000118125] [ENSMUST00000145959]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033015
AA Change: R414L

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: R414L

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: R422L

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: R422L

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

0.1947

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (80/81)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,471,993 (GRCm39)	S236P	possibly damaging	Het
A830018L16Rik	C	T	1: 11,615,431 (GRCm39)	R135C	probably damaging	Het
Agpat3	A	G	10: 78,120,069 (GRCm39)	V155A	possibly damaging	Het
Aldh18a1	C	T	19: 40,539,734 (GRCm39)	R747Q	probably damaging	Het
Aloxe3	A	T	11: 69,019,443 (GRCm39)	R119*	probably null	Het
Asap1	A	G	15: 64,002,000 (GRCm39)	V460A	possibly damaging	Het
Bicral	C	A	17: 47,112,620 (GRCm39)	R860L	possibly damaging	Het
Cd180	T	A	13: 102,842,649 (GRCm39)	I565N	probably benign	Het
Cdk13	T	C	13: 17,978,147 (GRCm39)		probably benign	Het
Cdkn2d	T	C	9: 21,200,303 (GRCm39)	D156G	probably benign	Het
Clrn1	A	G	3: 58,753,837 (GRCm39)	S175P	probably damaging	Het
Coro7	A	G	16: 4,450,351 (GRCm39)	L535S	probably damaging	Het
Cse1l	A	G	2: 166,783,110 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,728,550 (GRCm39)	L7P	unknown	Het
D130043K22Rik	A	G	13: 25,047,586 (GRCm39)	Y377C	probably damaging	Het
Dctn1	G	T	6: 83,159,546 (GRCm39)	R8L	possibly damaging	Het
Duox2	T	C	2: 122,111,977 (GRCm39)	Q1341R	probably damaging	Het
Eif2b3	A	G	4: 116,943,919 (GRCm39)	D447G	possibly damaging	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Fbxw25	T	C	9: 109,481,984 (GRCm39)	Y234C	probably benign	Het
Gcnt2	A	G	13: 41,107,076 (GRCm39)	N315S	possibly damaging	Het
Gm20730	A	T	6: 43,058,746 (GRCm39)	V22E	possibly damaging	Het
Gm4847	T	A	1: 166,457,890 (GRCm39)	I488F	probably damaging	Het
Gmds	A	T	13: 32,124,488 (GRCm39)	M290K	probably benign	Het
Gtf3c1	T	C	7: 125,269,716 (GRCm39)	N699S	probably damaging	Het
Hk3	A	G	13: 55,158,984 (GRCm39)	V479A	probably damaging	Het
Ifnlr1	G	A	4: 135,432,877 (GRCm39)	V438M	probably benign	Het
Il12rb1	C	A	8: 71,262,483 (GRCm39)	P26T	probably benign	Het
Ipo4	T	C	14: 55,868,327 (GRCm39)	N490S	probably benign	Het
Kcnmb2	A	G	3: 32,252,291 (GRCm39)	E164G	probably damaging	Het
Kcns1	G	A	2: 164,009,899 (GRCm39)	L287F	probably benign	Het
Kdm1a	ACC	AC	4: 136,284,732 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Knl1	T	A	2: 118,899,211 (GRCm39)	I304K	probably damaging	Het
Ksr2	G	T	5: 117,846,175 (GRCm39)	V681F	probably damaging	Het
Lypd2	T	C	15: 74,606,127 (GRCm39)	T4A	probably benign	Het
Man1a	A	G	10: 53,950,576 (GRCm39)	V182A	probably benign	Het
Or12j4	A	T	7: 140,046,720 (GRCm39)	D202V	probably damaging	Het
Or13e8	A	G	4: 43,696,225 (GRCm39)	F316S	possibly damaging	Het
Or2w2	A	T	13: 21,758,042 (GRCm39)	C195S	probably damaging	Het
Or51f5	A	T	7: 102,424,315 (GRCm39)	R195W	probably benign	Het
Or56b1b	T	C	7: 108,164,774 (GRCm39)	D76G	probably benign	Het
Pcdha2	C	A	18: 37,072,562 (GRCm39)	F64L	probably damaging	Het
Pgap3	G	C	11: 98,281,540 (GRCm39)	F168L	possibly damaging	Het
Pip5k1b	T	C	19: 24,416,439 (GRCm39)	N16S	probably benign	Het
Ppip5k1	T	A	2: 121,167,253 (GRCm39)	H41L	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,702 (GRCm39)	R1080G	probably damaging	Het
Qrich2	A	C	11: 116,336,774 (GRCm39)		probably null	Het
Rbl2	C	T	8: 91,842,447 (GRCm39)	P1034L	probably damaging	Het
Rbpjl	GCC	GC	2: 164,256,330 (GRCm39)		probably null	Het
Rin2	A	G	2: 145,702,629 (GRCm39)	S442G	probably damaging	Het
Rtca	C	T	3: 116,293,280 (GRCm39)	R71Q	probably benign	Het
Serpind1	A	T	16: 17,157,902 (GRCm39)	N366I	probably damaging	Het
Shox2	C	G	3: 66,888,796 (GRCm39)	G32R	probably damaging	Het
Sp3	T	A	2: 72,768,466 (GRCm39)	N766Y	probably damaging	Het
Spag7	T	A	11: 70,560,059 (GRCm39)	S17C	probably null	Het
Stk25	A	T	1: 93,563,031 (GRCm39)	F7I	probably benign	Het
Tbx15	G	A	3: 99,259,880 (GRCm39)	G584S	probably benign	Het
Tenm2	T	C	11: 36,755,503 (GRCm39)	D165G	probably benign	Het
Tox2	C	A	2: 163,046,649 (GRCm39)	S42*	probably null	Het
Vmn1r39	A	G	6: 66,781,754 (GRCm39)	V188A	probably damaging	Het
Zbtb5	A	T	4: 44,993,941 (GRCm39)	M481K	probably benign	Het
Zfp26	T	C	9: 20,355,615 (GRCm39)	T56A	possibly damaging	Het
Zfp459	C	A	13: 67,556,498 (GRCm39)	C195F	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp764	A	G	7: 127,004,105 (GRCm39)	I342T	probably benign	Het
Zfp942	T	C	17: 22,151,985 (GRCm39)	N7D	probably null	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
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'- TTCACTACGTAGCAGCCAGC -3'
(R):5'- GACTTGACAGCGGTCTCTAC -3'

Sequencing Primer
(F):5'- GCAGCCAGCAAGGTTTTTC -3'
(R):5'- TCGCCCGCGAAGTAAATG -3'

Posted On

2016-10-05