Mutagenetix > Incidental Mutations

Incidental Mutation 'R6959:Igf2bp3'

568358

Institutional Source

Beutler Lab

Gene Symbol

Igf2bp3

Ensembl Gene

ENSMUSG00000029814

Gene Name

insulin-like growth factor 2 mRNA binding protein 3

Synonyms

IMP3, 2610101N11Rik, Koc13

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49085223-49214957 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 49117148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031838]

AlphaFold

Q9CPN8

Predicted Effect

probably null
Transcript: ENSMUST00000031838

SMART Domains

Protein: ENSMUSP00000031838
Gene: ENSMUSG00000029814

Domain	Start	End	E-Value	Type
RRM	3	71	1.96e-8	SMART
RRM	82	152	3.92e-8	SMART
low complexity region	164	182	N/A	INTRINSIC
KH	194	265	3.01e-11	SMART
KH	275	348	1.51e-16	SMART
low complexity region	377	398	N/A	INTRINSIC
KH	404	475	2.16e-12	SMART
KH	486	558	1.66e-13	SMART
low complexity region	559	570	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,616,659	G177R	probably damaging	Het
4932438A13Rik	T	G	3: 36,967,189	V2154G	probably damaging	Het
Arhgef12	T	C	9: 43,015,953	T292A	probably benign	Het
Atp11a	T	A	8: 12,820,467	D173E	probably damaging	Het
Btnl2	G	A	17: 34,363,359	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,370,084	N117K	possibly damaging	Het
Ccl22	A	T	8: 94,746,900		probably null	Het
Cd200r1	T	A	16: 44,790,176	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,360,669		probably null	Het
Cfap157	A	G	2: 32,784,248	I47T	probably damaging	Het
Chodl	G	A	16: 78,946,684	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cstf3	A	G	2: 104,649,462	T225A	probably benign	Het
Duoxa1	T	C	2: 122,303,837	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,499,587	S164N	probably benign	Het
Fam126a	T	C	5: 23,991,756	I45V	possibly damaging	Het
Fat3	T	C	9: 15,996,885	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,999,219	D277G	probably benign	Het
Galnt6	A	G	15: 100,714,125	I212T	probably damaging	Het
Gatsl2	T	C	5: 134,135,213	S83P	probably damaging	Het
Gm45861	T	C	8: 27,548,185		probably null	Het
Gm5478	T	C	15: 101,645,448	D243G	probably damaging	Het
Gm6657	A	G	12: 78,202,296	K139E	probably damaging	Het
Gm7682	T	A	5: 94,447,032	N250K	possibly damaging	Het
Gse1	A	G	8: 120,570,971		probably benign	Het
Hspg2	A	T	4: 137,519,289	Q1096L	probably benign	Het
Idh3b	A	G	2: 130,281,527	V181A	probably damaging	Het
Ikzf2	A	G	1: 69,538,770	*382Q	probably null	Het
Impg2	A	C	16: 56,268,330	H1073P	probably benign	Het
Incenp	T	C	19: 9,876,770	E639G	unknown	Het
Kcne4	A	G	1: 78,817,886	M84V	probably benign	Het
Ktn1	T	A	14: 47,720,256	F1004I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Malrd1	A	G	2: 16,218,009	I2040V	probably damaging	Het
Mau2	T	C	8: 70,033,228	D110G	probably damaging	Het
Mei1	T	C	15: 82,124,875	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,861,669		probably null	Het
Ncapd2	A	G	6: 125,168,920	F1293L	probably benign	Het
Nf1	A	G	11: 79,549,468	T280A	probably damaging	Het
Obscn	G	T	11: 59,037,585	A6085E	probably damaging	Het
Olfr623	T	A	7: 103,660,843	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,907	A1381T	probably benign	Het
Ralgapa2	A	G	2: 146,342,701	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,470,962	C56*	probably null	Het
Reln	A	G	5: 21,976,564	S1774P	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sarnp	T	C	10: 128,848,268	V111A	possibly damaging	Het
Scube1	G	T	15: 83,629,435	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,826,044		probably null	Het
Slc37a2	T	A	9: 37,241,334	T64S	probably benign	Het
Slit2	A	G	5: 48,238,385	D710G	possibly damaging	Het
Srp72	T	A	5: 76,994,223	Y375N	possibly damaging	Het
Tmco4	T	A	4: 139,010,499	V135D	probably damaging	Het
Trim62	A	G	4: 128,909,162	D335G	probably damaging	Het
Tsfm	T	C	10: 127,022,909	M196V	probably benign	Het
Tspan10	T	A	11: 120,444,696	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,231,312	M498K	probably benign	Het
Ttc6	A	T	12: 57,658,142		probably null	Het
Ttll1	G	T	15: 83,502,196	Y69*	probably null	Het
Usp28	T	A	9: 49,001,542	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,446,531	S739P	probably damaging	Het
Wdr64	T	A	1: 175,705,989	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,396,280		probably null	Het
Zfr	T	C	15: 12,150,323	S459P	probably damaging	Het

Other mutations in Igf2bp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02199:Igf2bp3	APN	6	49088524	missense	probably benign	0.02
IGL02473:Igf2bp3	APN	6	49094229	missense	probably benign	0.03
IGL02957:Igf2bp3	APN	6	49087404	missense	probably benign	0.28
bittie	UTSW	6	49107428	missense	possibly damaging	0.61
bump	UTSW	6	49117150	critical splice donor site	probably benign
PIT4131001:Igf2bp3	UTSW	6	49117150	critical splice donor site	probably null
PIT4142001:Igf2bp3	UTSW	6	49117383	missense	probably damaging	0.98
R0207:Igf2bp3	UTSW	6	49105617	missense	probably benign	0.03
R0541:Igf2bp3	UTSW	6	49107467	splice site	probably benign
R1710:Igf2bp3	UTSW	6	49105631	missense	probably damaging	1.00
R1764:Igf2bp3	UTSW	6	49109046	missense	probably damaging	1.00
R2156:Igf2bp3	UTSW	6	49108924	critical splice donor site	probably null
R2207:Igf2bp3	UTSW	6	49088554	missense	possibly damaging	0.92
R5638:Igf2bp3	UTSW	6	49087800	missense	probably damaging	1.00
R5899:Igf2bp3	UTSW	6	49117150	critical splice donor site	probably benign
R6108:Igf2bp3	UTSW	6	49117374	missense	probably damaging	1.00
R6243:Igf2bp3	UTSW	6	49107428	missense	possibly damaging	0.61
R6340:Igf2bp3	UTSW	6	49214459	missense	probably damaging	1.00
R7380:Igf2bp3	UTSW	6	49108999	missense	probably benign	0.27
R7731:Igf2bp3	UTSW	6	49134731	missense	probably damaging	0.99
R8004:Igf2bp3	UTSW	6	49091020	missense	probably benign
R8727:Igf2bp3	UTSW	6	49109075	splice site	probably benign
R8861:Igf2bp3	UTSW	6	49105616	missense	possibly damaging	0.93
R8902:Igf2bp3	UTSW	6	49088431	missense	probably damaging	0.99
Z1177:Igf2bp3	UTSW	6	49214428	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCATGTGAGACCAACAACGC -3'
(R):5'- TTGCCTACATCCCAGATGAAAC -3'

Sequencing Primer
(F):5'- CATGATCAGGTGACAAGGCTTCC -3'
(R):5'- TCCCAGATGAAACTGCTGC -3'

Posted On

2019-07-10