Mutagenetix > Incidental Mutation

Incidental Mutation 'R2104:Igf2bp1'

230808

Institutional Source

Beutler Lab

Gene Symbol

Igf2bp1

Ensembl Gene

ENSMUSG00000013415

Gene Name

insulin-like growth factor 2 mRNA binding protein 1

Synonyms

IMP-1, Zbp1, D030026A21Rik, D11Moh45, CRD-BP, D11Moh40e, Crdbp

MMRRC Submission

040108-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R2104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95957163-96005940 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95975296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 122 (V122A)

Ref Sequence

ENSEMBL: ENSMUSP00000013559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013559]

AlphaFold

O88477

Predicted Effect

probably damaging
Transcript: ENSMUST00000013559
AA Change: V122A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000013559
Gene: ENSMUSG00000013415
AA Change: V122A

Domain	Start	End	E-Value	Type
RRM	3	71	7.42e-9	SMART
RRM	82	152	5.25e-9	SMART
KH	194	265	7.75e-14	SMART
KH	275	348	7.34e-15	SMART
low complexity region	377	390	N/A	INTRINSIC
KH	404	475	1.91e-13	SMART
KH	486	558	1.42e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152896

Meta Mutation Damage Score

0.3385

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mutation of this locus results in increased neonatal lethality, growth retardation, and impaired intestinal development. Males exhibit increased anxiety-like response and decreased exploratory behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,784,304	V563I	probably benign	Het
Amer3	T	C	1: 34,588,678	V666A	probably benign	Het
Ankrd16	A	G	2: 11,779,900		probably benign	Het
Ankub1	G	T	3: 57,672,875	C120*	probably null	Het
Arhgap31	T	C	16: 38,625,579	I135V	probably benign	Het
Atp2c2	G	A	8: 119,749,845	G633D	probably benign	Het
Camta1	T	A	4: 151,453,294	Q143L	probably damaging	Het
Casp8ap2	T	C	4: 32,644,727	S1267P	probably benign	Het
Cdh1	T	A	8: 106,653,759		probably benign	Het
Cdhr4	C	A	9: 107,996,261	D397E	probably damaging	Het
Cdk6	T	G	5: 3,344,387	S7R	probably benign	Het
Cilp2	C	A	8: 69,882,792	E519*	probably null	Het
Clybl	A	G	14: 122,311,306	Y40C	probably damaging	Het
Col4a3bp	T	A	13: 96,634,886	N550K	probably damaging	Het
Ctnnal1	T	C	4: 56,812,329	*732W	probably null	Het
Ctns	A	T	11: 73,193,081	S38R	probably benign	Het
Cwh43	A	T	5: 73,421,530	K293N	possibly damaging	Het
Dcaf5	G	T	12: 80,338,861	D830E	probably benign	Het
Dmxl2	A	G	9: 54,415,564	V1512A	probably damaging	Het
Dnah9	A	T	11: 66,061,124	C1850S	probably damaging	Het
Dpp8	C	T	9: 65,074,567		probably null	Het
Enam	A	T	5: 88,501,787	Q385L	probably damaging	Het
Etv3	A	G	3: 87,536,062	T318A	possibly damaging	Het
Exd2	T	G	12: 80,496,801	I586S	probably benign	Het
Fat3	A	G	9: 15,998,517	V2063A	possibly damaging	Het
Fezf1	A	G	6: 23,247,332	F248S	possibly damaging	Het
Flnc	T	C	6: 29,450,735		probably null	Het
Foxc2	A	G	8: 121,118,080	Y489C	probably damaging	Het
Gfm2	A	G	13: 97,171,520	E540G	probably damaging	Het
Hrg	T	C	16: 22,956,199	I193T	probably benign	Het
Ifih1	G	A	2: 62,610,545	Q426*	probably null	Het
Ifit1bl2	T	A	19: 34,619,520	D232V	probably benign	Het
Inpp1	T	G	1: 52,799,418	Q24P	probably damaging	Het
Kifc2	A	G	15: 76,661,254	D67G	probably damaging	Het
Lrrc43	G	A	5: 123,501,114	G402D	probably benign	Het
Lrrc8c	C	T	5: 105,607,358	T333M	possibly damaging	Het
Mab21l3	G	T	3: 101,823,428	A165D	probably benign	Het
Mcub	T	A	3: 129,918,688	R179S	probably benign	Het
Mdfi	G	C	17: 47,824,637	A56G	possibly damaging	Het
Mdn1	A	T	4: 32,743,843		probably null	Het
Meox2	A	G	12: 37,167,477	T226A	probably damaging	Het
Mipol1	A	G	12: 57,306,056		probably null	Het
Mms22l	T	G	4: 24,591,084	N1018K	probably benign	Het
Mn1	T	C	5: 111,454,751	I1285T	possibly damaging	Het
Muc20	T	G	16: 32,794,177	S277R	probably damaging	Het
Muc6	C	A	7: 141,634,078	V2845L	probably benign	Het
Mup5	C	A	4: 61,833,725	G96C	probably damaging	Het
Neb	T	A	2: 52,256,814	M2813L	probably benign	Het
Neb	C	A	2: 52,271,558	R2074L	probably damaging	Het
Oasl2	A	T	5: 114,911,002	K168*	probably null	Het
Olfr774	T	C	10: 129,238,499	S117P	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Ptprg	T	C	14: 11,952,897		probably null	Het
Rims4	C	T	2: 163,864,865		probably null	Het
Rtn4ip1	T	A	10: 43,932,406	W60R	probably benign	Het
Sccpdh	T	C	1: 179,670,597	S69P	probably benign	Het
Serpina3b	T	A	12: 104,138,810	I415N	probably benign	Het
Slc22a4	T	C	11: 53,983,610		probably benign	Het
Slc4a5	G	A	6: 83,297,378	A1076T	probably benign	Het
Slit1	T	C	19: 41,602,247	K1329E	possibly damaging	Het
Synj2bp	A	C	12: 81,502,052	F138V	probably benign	Het
Taar7a	T	C	10: 23,993,061	I141V	probably damaging	Het
Tas1r3	T	C	4: 155,862,131	E339G	probably benign	Het
Tep1	A	G	14: 50,850,580		probably benign	Het
Tgds	A	T	14: 118,121,737	Y146*	probably null	Het
Tgm3	G	A	2: 130,037,483	V332I	probably benign	Het
Tnnt2	A	G	1: 135,843,809		probably benign	Het
Top1	T	A	2: 160,704,819	Y340N	probably damaging	Het
Topbp1	T	C	9: 103,317,982		probably benign	Het
Tpst1	A	G	5: 130,102,361	N224S	probably benign	Het
Traf4	A	G	11: 78,160,014	F439L	probably damaging	Het
Trim58	A	G	11: 58,643,138		probably benign	Het
Tspan31	T	C	10: 127,068,135	N205S	probably damaging	Het
Ube3a	T	A	7: 59,276,477	N334K	possibly damaging	Het
Ugt2a3	A	T	5: 87,329,682		probably null	Het
Vwf	G	A	6: 125,646,330	V1797I	probably benign	Het
Wdr81	G	T	11: 75,452,983	P486Q	probably damaging	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Wisp1	A	G	15: 66,919,327	E326G	probably benign	Het
Yipf7	T	A	5: 69,521,119	N56I	possibly damaging	Het
Zfp523	A	T	17: 28,195,216	T75S	probably benign	Het

Other mutations in Igf2bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02554:Igf2bp1	APN	11	95974168	missense	probably damaging	0.97
IGL03263:Igf2bp1	APN	11	95966673	missense	probably damaging	1.00
R0011:Igf2bp1	UTSW	11	96005584	missense	probably damaging	0.96
R0011:Igf2bp1	UTSW	11	96005584	missense	probably damaging	0.96
R0098:Igf2bp1	UTSW	11	95973163	missense	probably damaging	1.00
R0348:Igf2bp1	UTSW	11	95968893	missense	possibly damaging	0.59
R0534:Igf2bp1	UTSW	11	95966796	splice site	probably benign
R2025:Igf2bp1	UTSW	11	95974170	missense	possibly damaging	0.95
R2026:Igf2bp1	UTSW	11	95974170	missense	possibly damaging	0.95
R2103:Igf2bp1	UTSW	11	95975296	missense	probably damaging	0.96
R5021:Igf2bp1	UTSW	11	95974006	missense	probably damaging	0.98
R5154:Igf2bp1	UTSW	11	95963547	nonsense	probably null
R6123:Igf2bp1	UTSW	11	95975296	missense	probably damaging	0.96
R6130:Igf2bp1	UTSW	11	95974020	missense	probably damaging	1.00
R6736:Igf2bp1	UTSW	11	95973122	missense	probably benign	0.14
R7173:Igf2bp1	UTSW	11	95968464	missense	probably benign
R7748:Igf2bp1	UTSW	11	95967587	missense	probably benign	0.03
R8722:Igf2bp1	UTSW	11	95970780	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TGTTCCCAGGGACCCAAAAG -3'
(R):5'- TCCCAGGGTAAGTTTGCTTCC -3'

Sequencing Primer
(F):5'- TTCCTGCAGATCATTTTTACTGAG -3'
(R):5'- GTGTGTGAGGGAGGTCATC -3'

Posted On

2014-09-18