Mutagenetix > Incidental Mutation

Incidental Mutation 'R9695:Il4i1'

729218

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44485712-44490233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44489033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 266 (D266V)

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

probably damaging
Transcript: ENSMUST00000033015
AA Change: D266V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: D266V

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: D274V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: D274V

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: ENSMUST00000208714

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,170,739 (GRCm39)	T1A		Het
Adgrl1	G	A	8: 84,665,060 (GRCm39)	R1249Q	probably damaging	Het
Apeh	G	A	9: 107,963,483 (GRCm39)	R580C	probably damaging	Het
Armc12	T	A	17: 28,749,993 (GRCm39)	C46S	probably benign	Het
Avpr1a	C	T	10: 122,284,845 (GRCm39)	R46C	probably damaging	Het
Cbln4	C	G	2: 171,879,469 (GRCm39)	G140R	probably damaging	Het
Ccdc89	A	G	7: 90,076,552 (GRCm39)	N254S	probably benign	Het
Cd96	T	A	16: 45,919,410 (GRCm39)	I204F	probably damaging	Het
Cel	G	T	2: 28,450,961 (GRCm39)	L101I	probably damaging	Het
Crtap	A	T	9: 114,215,378 (GRCm39)	Y170*	probably null	Het
Ctxn3	A	G	18: 57,610,185 (GRCm39)	M1V	probably null	Het
Cwf19l1	G	T	19: 44,101,425 (GRCm39)	H478N	probably damaging	Het
Dpysl3	A	T	18: 43,571,192 (GRCm39)	D27E	probably damaging	Het
Dsg1b	A	G	18: 20,532,389 (GRCm39)	T478A	probably damaging	Het
Dvl2	G	A	11: 69,899,976 (GRCm39)	R590Q	possibly damaging	Het
Elovl7	C	A	13: 108,416,242 (GRCm39)	Q211K	probably damaging	Het
Fech	A	G	18: 64,600,803 (GRCm39)	I233T	probably damaging	Het
Fsip2	A	T	2: 82,806,226 (GRCm39)	Q848H	probably benign	Het
Gna15	A	G	10: 81,359,752 (GRCm39)	C13R	probably damaging	Het
Gstt4	A	T	10: 75,657,072 (GRCm39)	S65T	probably benign	Het
Heatr1	T	C	13: 12,438,624 (GRCm39)	V1353A	probably damaging	Het
Hip1r	A	T	5: 124,139,916 (GRCm39)	K1006N	possibly damaging	Het
Hspg2	T	A	4: 137,265,701 (GRCm39)	V1804E	probably damaging	Het
Ifi206	T	C	1: 173,301,249 (GRCm39)	T810A	unknown	Het
Ighv1-69	T	C	12: 115,586,987 (GRCm39)	T49A	probably benign	Het
Itga3	A	T	11: 94,946,520 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,378,311 (GRCm39)	N1279S	probably damaging	Het
Madd	T	C	2: 90,992,929 (GRCm39)	T997A	probably benign	Het
Mal	C	T	2: 127,482,308 (GRCm39)	V32I	probably benign	Het
Map9	T	A	3: 82,284,292 (GRCm39)	S289T	probably benign	Het
Mmp15	G	T	8: 96,097,414 (GRCm39)	R461L	possibly damaging	Het
Nelfcd	T	A	2: 174,266,923 (GRCm39)	I395N	probably benign	Het
Neurog2	T	A	3: 127,427,694 (GRCm39)	V106E	probably damaging	Het
Nup160	T	A	2: 90,538,486 (GRCm39)	N761K	probably damaging	Het
Oasl1	G	A	5: 115,074,054 (GRCm39)	R321Q	probably damaging	Het
Oosp2	T	C	19: 11,628,994 (GRCm39)	T36A		Het
Or2a52	A	T	6: 43,144,510 (GRCm39)	I173L	probably benign	Het
Or7g22	A	G	9: 19,049,171 (GRCm39)	N294S	probably damaging	Het
Or8k30	T	C	2: 86,339,100 (GRCm39)	V99A	probably benign	Het
Or9s27	A	G	1: 92,516,595 (GRCm39)	D181G	probably benign	Het
Otx2	T	G	14: 48,899,952 (GRCm39)	S16R	probably damaging	Het
Phactr2	A	G	10: 13,349,908 (GRCm39)	S39P	unknown	Het
Piwil2	A	G	14: 70,627,349 (GRCm39)	Y797H	possibly damaging	Het
Plxna4	T	G	6: 32,183,056 (GRCm39)	Y949S	probably benign	Het
Prss35	A	G	9: 86,637,761 (GRCm39)	Y177C	probably damaging	Het
Rbm19	T	C	5: 120,335,986 (GRCm39)	I934T	probably damaging	Het
Rictor	T	G	15: 6,816,010 (GRCm39)	V1094G	probably benign	Het
Riok1	A	G	13: 38,242,676 (GRCm39)	T467A	possibly damaging	Het
Slc15a4	G	A	5: 127,694,400 (GRCm39)	R12W	possibly damaging	Het
Slc44a5	T	A	3: 153,956,588 (GRCm39)	I280K	probably damaging	Het
Slc9c1	T	C	16: 45,368,026 (GRCm39)	L205S	probably benign	Het
Slco2a1	A	G	9: 102,962,139 (GRCm39)	R604G	possibly damaging	Het
Slmap	T	A	14: 26,183,496 (GRCm39)	T296S	probably damaging	Het
Snrk	T	C	9: 121,995,640 (GRCm39)	V473A	probably benign	Het
Spart	A	G	3: 55,033,955 (GRCm39)	T394A	probably benign	Het
Stil	T	C	4: 114,881,378 (GRCm39)	S641P	probably damaging	Het
Syne1	A	G	10: 5,268,461 (GRCm39)	V2076A	probably benign	Het
Tcirg1	G	A	19: 3,952,360 (GRCm39)	A336V	probably null	Het
Tespa1	T	C	10: 130,198,285 (GRCm39)	S436P	probably benign	Het
Thumpd3	G	T	6: 113,024,622 (GRCm39)	R72L	possibly damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Vars1	A	G	17: 35,231,564 (GRCm39)	D696G	possibly damaging	Het
Vwa5b2	A	T	16: 20,422,975 (GRCm39)	H991L	probably benign	Het
Zfp160	A	G	17: 21,245,746 (GRCm39)	K99E	possibly damaging	Het
Zfp759	G	A	13: 67,287,198 (GRCm39)	V250I	possibly damaging	Het
Zmym6	T	C	4: 127,016,340 (GRCm39)	V707A	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
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
R9721:Il4i1	UTSW	7	44,489,113 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGAGGGCTTCTTCTACCTC -3'
(R):5'- AGAAGGTAATGCGCTGCAGC -3'

Sequencing Primer
(F):5'- TTGCAGAAGCCTTACGTGC -3'
(R):5'- CGTCTTCTCGCTGTGAAG -3'

Posted On

2022-10-06