Mutagenetix > Incidental Mutation

Incidental Mutation 'R2212:Il4i1'

239448

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

040214-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44485712-44490233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44486082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 22 (L22P)

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

unknown
Transcript: ENSMUST00000033015
AA Change: L14P

SMART Domains

Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
AA Change: L14P

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: L22P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
AA Change: L22P

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: ENSMUST00000149686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149779

Predicted Effect

probably benign
Transcript: ENSMUST00000208714

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

0.6385

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,603,977 (GRCm39)	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,383,559 (GRCm39)	Q802L	probably benign	Het
Adarb2	T	C	13: 8,802,654 (GRCm39)	F643S	probably damaging	Het
Angptl4	A	G	17: 33,994,392 (GRCm39)	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Atp8b4	C	A	2: 126,217,677 (GRCm39)	W613L	probably damaging	Het
Cibar1	A	G	4: 12,171,696 (GRCm39)		probably null	Het
Coq10a	A	G	10: 128,200,998 (GRCm39)	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,706,037 (GRCm39)	E376V	possibly damaging	Het
Deup1	A	T	9: 15,511,139 (GRCm39)	D213E	probably benign	Het
Ehmt2	A	G	17: 35,118,341 (GRCm39)	S39G	probably benign	Het
Eya1	T	A	1: 14,344,433 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,517,505 (GRCm39)	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscn2	G	T	11: 120,252,417 (GRCm39)		probably benign	Het
Gckr	T	A	5: 31,458,211 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,707,709 (GRCm39)	K68E	probably damaging	Het
H2-M11	G	A	17: 36,859,822 (GRCm39)	V272M	probably damaging	Het
Hace1	T	A	10: 45,524,771 (GRCm39)	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,530,227 (GRCm39)	D318V	probably damaging	Het
Kcnq3	A	T	15: 65,892,142 (GRCm39)	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,458,538 (GRCm39)	Y775C	probably damaging	Het
Krt84	A	C	15: 101,440,973 (GRCm39)	V73G	probably benign	Het
Lcp2	A	C	11: 34,020,995 (GRCm39)	D117A	probably benign	Het
Lemd1	C	A	1: 132,156,024 (GRCm39)	T22K	probably benign	Het
Mdm4	T	C	1: 132,922,260 (GRCm39)	D294G	probably damaging	Het
Mep1a	G	A	17: 43,788,154 (GRCm39)	A634V	probably benign	Het
Myh15	A	G	16: 48,959,095 (GRCm39)	D989G	probably benign	Het
Myo1g	G	T	11: 6,467,870 (GRCm39)	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732 (GRCm39)	L918F	probably damaging	Het
Or10d4	T	A	9: 39,580,524 (GRCm39)	M57K	probably damaging	Het
Or2v2	C	T	11: 49,004,043 (GRCm39)	C170Y	probably damaging	Het
Or51f5	T	C	7: 102,423,962 (GRCm39)	L77P	possibly damaging	Het
Or51q1	T	C	7: 103,628,609 (GRCm39)	L76P	probably damaging	Het
Pfkfb2	A	T	1: 130,635,269 (GRCm39)	N97K	probably damaging	Het
Phlda1	A	T	10: 111,343,029 (GRCm39)	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,133,587 (GRCm39)	S579G	probably benign	Het
Plcz1	C	T	6: 139,947,807 (GRCm39)	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,444,291 (GRCm39)	Q291*	probably null	Het
Ppef2	T	G	5: 92,376,581 (GRCm39)	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,379 (GRCm39)	T73A	possibly damaging	Het
Prss43	G	C	9: 110,658,532 (GRCm39)	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,280,985 (GRCm39)	D53N	probably damaging	Het
Sez6l	A	G	5: 112,623,227 (GRCm39)	L108P	possibly damaging	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Spata13	A	G	14: 60,944,172 (GRCm39)	T522A	probably benign	Het
Spryd3	A	G	15: 102,038,711 (GRCm39)		probably null	Het
Sry	T	A	Y: 2,663,339 (GRCm39)	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,656,682 (GRCm39)	W486R	probably damaging	Het
Syt1	G	T	10: 108,340,275 (GRCm39)	P348T	possibly damaging	Het
Taok2	T	C	7: 126,470,030 (GRCm39)	I933V	possibly damaging	Het
Tex9	C	A	9: 72,385,040 (GRCm39)	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trim59	T	C	3: 68,944,876 (GRCm39)	T155A	probably benign	Het
Trim69	T	C	2: 122,009,125 (GRCm39)	V395A	probably benign	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,437,008 (GRCm39)	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,475,674 (GRCm39)	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,794,209 (GRCm39)		probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfyve28	C	T	5: 34,357,028 (GRCm39)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,657,371 (GRCm39)	M533K	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
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'- TACTTCTTCACTCAGACAGCAGC -3'
(R):5'- GACTACAGGCAGCACTTCTC -3'

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

Posted On

2014-10-15