Mutagenetix > Incidental Mutation

Incidental Mutation 'R0541:Igf2bp3'

49904

Institutional Source

Beutler Lab

Gene Symbol

Igf2bp3

Ensembl Gene

ENSMUSG00000029814

Gene Name

insulin-like growth factor 2 mRNA binding protein 3

Synonyms

2610101N11Rik, IMP3, Koc13

MMRRC Submission

038733-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49062157-49191891 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 49084401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031838 (fasta)

Gene Model

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

AlphaFold

Q9CPN8

Predicted Effect

probably benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203863

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (64/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,872 (GRCm39)	M115V	probably benign	Het
4933415A04Rik	TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,478,227 (GRCm39)		probably null	Het
Abca7	C	T	10: 79,843,185 (GRCm39)	A1220V	probably benign	Het
Adamts19	G	A	18: 59,060,372 (GRCm39)		probably null	Het
Agbl1	G	A	7: 76,058,993 (GRCm39)	V194M	probably benign	Het
Arhgap20	G	T	9: 51,760,963 (GRCm39)	S902I	probably damaging	Het
Atp11b	T	G	3: 35,861,093 (GRCm39)	D193E	probably damaging	Het
B3gntl1	A	T	11: 121,535,430 (GRCm39)		probably benign	Het
C2cd2	T	C	16: 97,723,496 (GRCm39)	E7G	possibly damaging	Het
Camta2	A	G	11: 70,572,447 (GRCm39)	L259P	probably benign	Het
Ccni	T	C	5: 93,335,563 (GRCm39)	N192D	probably benign	Het
Cgnl1	A	G	9: 71,558,535 (GRCm39)	I946T	possibly damaging	Het
Chil3	T	C	3: 106,068,548 (GRCm39)		probably null	Het
Cntn5	A	G	9: 9,673,407 (GRCm39)		probably benign	Het
Cpn2	C	T	16: 30,078,169 (GRCm39)	G511S	possibly damaging	Het
Dagla	C	A	19: 10,232,170 (GRCm39)		probably null	Het
Dcc	T	C	18: 71,392,086 (GRCm39)	N1440S	probably damaging	Het
Drosha	T	A	15: 12,907,474 (GRCm39)	N1069K	probably benign	Het
Edc4	A	G	8: 106,616,060 (GRCm39)	T812A	probably benign	Het
Eml4	A	G	17: 83,747,471 (GRCm39)	I238V	probably benign	Het
Ep400	T	C	5: 110,852,882 (GRCm39)	T1288A	unknown	Het
Fastkd1	A	C	2: 69,532,750 (GRCm39)	L539R	probably damaging	Het
Fbln7	G	A	2: 128,719,454 (GRCm39)		probably benign	Het
Fbxo39	A	G	11: 72,209,297 (GRCm39)	I386V	probably benign	Het
Gm17430	T	C	18: 9,726,267 (GRCm39)	K135R	probably damaging	Het
Gm3646	T	A	1: 39,843,483 (GRCm39)	T8S	unknown	Het
Gtsf1	A	T	15: 103,329,619 (GRCm39)	V100E	possibly damaging	Het
Helz2	A	G	2: 180,876,618 (GRCm39)	F1292S	possibly damaging	Het
Ip6k2	T	G	9: 108,681,826 (GRCm39)	D252E	probably damaging	Het
Iqck	T	A	7: 118,514,817 (GRCm39)	L232Q	probably damaging	Het
Kif18b	A	G	11: 102,806,001 (GRCm39)	V186A	probably damaging	Het
Klhl6	T	A	16: 19,768,197 (GRCm39)		probably null	Het
Lao1	C	T	4: 118,820,999 (GRCm39)	T75I	probably benign	Het
Lyst	T	C	13: 13,855,878 (GRCm39)	F2400L	probably benign	Het
Map3k9	A	T	12: 81,780,997 (GRCm39)	S388T	possibly damaging	Het
Mmp11	G	T	10: 75,762,767 (GRCm39)	H229N	probably damaging	Het
Myh7	T	G	14: 55,212,158 (GRCm39)	I1529L	probably benign	Het
Nckap5	G	T	1: 126,623,459 (GRCm39)	D11E	possibly damaging	Het
Ncoa1	A	T	12: 4,373,033 (GRCm39)	F123I	probably damaging	Het
Nelfb	A	T	2: 25,093,992 (GRCm39)	D385E	probably benign	Het
Obscn	C	T	11: 58,972,810 (GRCm39)	V2288M	probably damaging	Het
Or2f1b	A	G	6: 42,739,154 (GRCm39)	H56R	probably damaging	Het
Or4d6	C	T	19: 12,086,884 (GRCm39)	V9M	possibly damaging	Het
Or52x1	A	T	7: 104,853,367 (GRCm39)	M61K	probably damaging	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Otog	T	A	7: 45,918,673 (GRCm39)		probably benign	Het
Oxa1l	A	G	14: 54,605,646 (GRCm39)	E375G	possibly damaging	Het
Pan2	T	A	10: 128,144,091 (GRCm39)	I129K	possibly damaging	Het
Parp1	A	G	1: 180,426,616 (GRCm39)	I919M	probably benign	Het
Pnpla7	T	C	2: 24,885,305 (GRCm39)	Y174H	probably damaging	Het
Polr3b	T	C	10: 84,473,928 (GRCm39)	F169S	probably damaging	Het
Rab10	T	C	12: 3,314,743 (GRCm39)	D45G	probably damaging	Het
Reln	A	G	5: 22,185,107 (GRCm39)	S1537P	possibly damaging	Het
Sema6d	T	A	2: 124,507,197 (GRCm39)	S1045T	probably benign	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Spidr	T	A	16: 15,733,229 (GRCm39)	I589F	probably damaging	Het
Stmn4	A	C	14: 66,595,388 (GRCm39)	I165L	probably benign	Het
Stx5a	T	C	19: 8,727,301 (GRCm39)	M177T	probably damaging	Het
Tll1	T	C	8: 64,491,486 (GRCm39)		probably null	Het
Tmem192	T	C	8: 65,416,912 (GRCm39)	Y168H	probably damaging	Het
Ttc21a	C	T	9: 119,785,892 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,446,663 (GRCm39)		probably benign	Het
Vezf1	A	G	11: 87,972,403 (GRCm39)	M255V	possibly damaging	Het
Vmn2r25	A	G	6: 123,816,786 (GRCm39)	F265S	probably damaging	Het
Vps13a	A	G	19: 16,681,941 (GRCm39)	S1021P	probably benign	Het
Wfdc16	T	C	2: 164,477,773 (GRCm39)	E92G	possibly damaging	Het
Zkscan2	T	C	7: 123,079,423 (GRCm39)	T845A	possibly damaging	Het

Other mutations in Igf2bp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02199:Igf2bp3	APN	6	49,065,458 (GRCm39)	missense	probably benign	0.02
IGL02473:Igf2bp3	APN	6	49,071,163 (GRCm39)	missense	probably benign	0.03
IGL02957:Igf2bp3	APN	6	49,064,338 (GRCm39)	missense	probably benign	0.28
bittie	UTSW	6	49,084,362 (GRCm39)	missense	possibly damaging	0.61
bump	UTSW	6	49,094,084 (GRCm39)	critical splice donor site	probably benign
PIT4131001:Igf2bp3	UTSW	6	49,094,084 (GRCm39)	critical splice donor site	probably null
PIT4142001:Igf2bp3	UTSW	6	49,094,317 (GRCm39)	missense	probably damaging	0.98
R0207:Igf2bp3	UTSW	6	49,082,551 (GRCm39)	missense	probably benign	0.03
R1710:Igf2bp3	UTSW	6	49,082,565 (GRCm39)	missense	probably damaging	1.00
R1764:Igf2bp3	UTSW	6	49,085,980 (GRCm39)	missense	probably damaging	1.00
R2156:Igf2bp3	UTSW	6	49,085,858 (GRCm39)	critical splice donor site	probably null
R2207:Igf2bp3	UTSW	6	49,065,488 (GRCm39)	missense	possibly damaging	0.92
R5638:Igf2bp3	UTSW	6	49,064,734 (GRCm39)	missense	probably damaging	1.00
R5899:Igf2bp3	UTSW	6	49,094,084 (GRCm39)	critical splice donor site	probably benign
R6108:Igf2bp3	UTSW	6	49,094,308 (GRCm39)	missense	probably damaging	1.00
R6243:Igf2bp3	UTSW	6	49,084,362 (GRCm39)	missense	possibly damaging	0.61
R6340:Igf2bp3	UTSW	6	49,191,393 (GRCm39)	missense	probably damaging	1.00
R6959:Igf2bp3	UTSW	6	49,094,082 (GRCm39)	splice site	probably null
R7380:Igf2bp3	UTSW	6	49,085,933 (GRCm39)	missense	probably benign	0.27
R7731:Igf2bp3	UTSW	6	49,111,665 (GRCm39)	missense	probably damaging	0.99
R8004:Igf2bp3	UTSW	6	49,067,954 (GRCm39)	missense	probably benign
R8727:Igf2bp3	UTSW	6	49,086,009 (GRCm39)	splice site	probably benign
R8861:Igf2bp3	UTSW	6	49,082,550 (GRCm39)	missense	possibly damaging	0.93
R8902:Igf2bp3	UTSW	6	49,065,365 (GRCm39)	missense	probably damaging	0.99
R9655:Igf2bp3	UTSW	6	49,064,338 (GRCm39)	missense	probably benign	0.44
Z1177:Igf2bp3	UTSW	6	49,191,362 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCACAAACGAGACGGCACTTACGG -3'
(R):5'- TCTCCAAATGTGTGGTTCCAGGGC -3'

Sequencing Primer
(F):5'- ACGGCACTTACGGAGATATTGTG -3'
(R):5'- GACTGTCTTAAAGATGAACCCCTATG -3'

Posted On

2013-06-12