Mutagenetix > Incidental Mutation

Incidental Mutation 'R7543:Il4i1'

584013

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

045615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44485712-44490233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44486199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 53 (N53S)

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: N53S

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: N53S

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: N61S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: N61S

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

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,559,920 (GRCm39)	S54T	probably damaging	Het
Acsl5	G	A	19: 55,266,615 (GRCm39)	V59I		Het
Acss2	A	T	2: 155,391,755 (GRCm39)	I203F	probably damaging	Het
Add2	A	G	6: 86,083,207 (GRCm39)	N435S	probably damaging	Het
Afap1l1	T	C	18: 61,889,972 (GRCm39)	D88G	probably benign	Het
Ajm1	C	A	2: 25,467,410 (GRCm39)	A834S	possibly damaging	Het
Ank3	C	T	10: 69,786,846 (GRCm39)	T970M	possibly damaging	Het
Ap3b2	A	T	7: 81,115,894 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,720 (GRCm39)	K1925E	possibly damaging	Het
Aspscr1	A	G	11: 120,600,249 (GRCm39)	N130D	unknown	Het
B3glct	A	G	5: 149,677,604 (GRCm39)	D411G	probably damaging	Het
Bard1	T	C	1: 71,114,589 (GRCm39)	K131E	probably damaging	Het
Bche	T	C	3: 73,609,066 (GRCm39)	D120G	probably damaging	Het
Brms1l	A	T	12: 55,914,997 (GRCm39)	D302V	probably damaging	Het
Ccdc191	T	A	16: 43,718,572 (GRCm39)	Y56*	probably null	Het
Cela3a	T	A	4: 137,129,883 (GRCm39)	H246L	probably damaging	Het
Col11a2	A	T	17: 34,269,430 (GRCm39)	D440V	unknown	Het
Cplane1	T	C	15: 8,254,876 (GRCm39)	I21T	unknown	Het
Dag1	C	T	9: 108,095,280 (GRCm39)	V71I	probably benign	Het
Ddx23	A	G	15: 98,556,139 (GRCm39)	S60P	unknown	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Dync1i1	T	C	6: 5,784,464 (GRCm39)	S103P	possibly damaging	Het
Erap1	T	A	13: 74,822,753 (GRCm39)	D755E	probably damaging	Het
Exosc8	T	C	3: 54,636,669 (GRCm39)	T221A	probably benign	Het
Fbxo4	T	C	15: 4,007,385 (GRCm39)	D93G	probably damaging	Het
Fzd5	A	G	1: 64,774,999 (GRCm39)	V254A	probably damaging	Het
Gbp3	T	C	3: 142,272,341 (GRCm39)	V281A	probably damaging	Het
Gcc2	T	A	10: 58,107,086 (GRCm39)	I774K	probably benign	Het
Gpr132	A	C	12: 112,815,822 (GRCm39)	C335G	probably benign	Het
Gpr162	G	T	6: 124,838,355 (GRCm39)	Y98*	probably null	Het
H2-T24	T	C	17: 36,325,743 (GRCm39)	T283A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,186 (GRCm39)	Y50C	probably damaging	Het
Iqcf3	T	C	9: 106,431,425 (GRCm39)	K60R	possibly damaging	Het
Kif24	A	T	4: 41,413,993 (GRCm39)	Y316*	probably null	Het
Krt18	A	G	15: 101,939,896 (GRCm39)	K365E	probably damaging	Het
Lrguk	T	A	6: 34,025,870 (GRCm39)	L222*	probably null	Het
Mbd1	T	G	18: 74,407,520 (GRCm39)	V210G	probably damaging	Het
Ms4a6b	A	G	19: 11,499,155 (GRCm39)	I90V	not run	Het
Muc16	A	G	9: 18,556,028 (GRCm39)	S3422P	unknown	Het
Mynn	G	A	3: 30,661,188 (GRCm39)	W90*	probably null	Het
Or5p5	T	A	7: 107,414,308 (GRCm39)	N172K	probably damaging	Het
Pdpr	T	A	8: 111,859,520 (GRCm39)	H687Q	probably damaging	Het
Pkd1	A	G	17: 24,814,227 (GRCm39)	E4199G	probably damaging	Het
Plekhg5	A	G	4: 152,192,491 (GRCm39)	E517G	probably damaging	Het
Plxna1	T	C	6: 89,299,837 (GRCm39)	D1644G	probably damaging	Het
Pon1	C	T	6: 5,168,400 (GRCm39)	V336M	possibly damaging	Het
Pop1	T	A	15: 34,530,593 (GRCm39)	L1027Q	probably damaging	Het
Pramel1	T	C	4: 143,124,993 (GRCm39)	S306P	probably damaging	Het
Prpsap2	A	T	11: 61,635,797 (GRCm39)	F168I	possibly damaging	Het
Rabgap1	T	A	2: 37,359,444 (GRCm39)	D2E	probably damaging	Het
Rgmb	A	T	17: 16,027,777 (GRCm39)	L314Q	probably damaging	Het
Ryr2	C	T	13: 11,653,317 (GRCm39)		probably null	Het
Samd4b	A	T	7: 28,113,711 (GRCm39)	S85T	probably benign	Het
Sfrp5	T	C	19: 42,187,302 (GRCm39)	D256G	possibly damaging	Het
Slc25a23	A	G	17: 57,365,106 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,786,905 (GRCm39)	I589T	probably damaging	Het
Sybu	T	A	15: 44,546,848 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,953,616 (GRCm39)	E515G	possibly damaging	Het
Tbc1d17	G	A	7: 44,495,503 (GRCm39)	A107V	probably benign	Het
Tcstv2c	A	C	13: 120,616,290 (GRCm39)	E43A	probably damaging	Het
Tex50	G	T	1: 160,984,817 (GRCm39)	T141K	possibly damaging	Het
Tmc7	A	G	7: 118,144,979 (GRCm39)	L527P	probably benign	Het
Tns4	T	A	11: 98,963,079 (GRCm39)	D547V	probably benign	Het
Topors	A	G	4: 40,268,312 (GRCm39)	S65P	probably damaging	Het
Trdc	T	A	14: 54,381,692 (GRCm39)	S126T		Het
Ttc27	A	T	17: 75,024,745 (GRCm39)		probably benign	Het
Wdfy3	A	C	5: 102,083,925 (GRCm39)	I787S	probably benign	Het
Zc3h11a	T	C	1: 133,554,768 (GRCm39)	D404G	possibly damaging	Het
Zfp799	A	G	17: 33,039,534 (GRCm39)	I244T	probably benign	Het
Zfp93	A	G	7: 23,974,533 (GRCm39)	T173A	probably benign	Het
Zfp953	T	A	13: 67,495,953 (GRCm39)	L29F	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
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
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'- TTCACTCAGACAGCAGCTGC -3'
(R):5'- GGAAAGGGTAGCTTCTCTCC -3'

Sequencing Primer
(F):5'- AGACAGCAGCTGCCACTTGAG -3'
(R):5'- GAAAGGGTAGCTTCTCTCCGTCAC -3'

Posted On

2019-10-17