Mutagenetix > Incidental Mutation

Incidental Mutation 'R8902:Igf2bp3'

678235

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

068759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8902 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49062157-49191891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49065365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 509 (T509K)

Ref Sequence

ENSEMBL: ENSMUSP00000031838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031838] [ENSMUST00000114500] [ENSMUST00000128616]

AlphaFold

Q9CPN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031838
AA Change: T509K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031838
Gene: ENSMUSG00000029814
AA Change: T509K

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

probably benign
Transcript: ENSMUST00000114500

SMART Domains

Protein: ENSMUSP00000110144
Gene: ENSMUSG00000029815

Domain	Start	End	E-Value	Type
Pfam:Oligomerisation	18	69	9.9e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128616

SMART Domains

Protein: ENSMUSP00000122941
Gene: ENSMUSG00000029815

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
Pfam:Oligomerisation	94	195	3.3e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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
Acap3	G	T	4: 155,990,371 (GRCm39)	R819L	possibly damaging	Het
App	A	G	16: 84,876,767 (GRCm39)	V208A	unknown	Het
C1qtnf7	G	A	5: 43,773,204 (GRCm39)	E168K	probably damaging	Het
Cacna1e	C	T	1: 154,349,632 (GRCm39)	M757I	probably benign	Het
Casp1	A	G	9: 5,299,333 (GRCm39)	T21A	probably benign	Het
Ccdc92	C	T	5: 124,912,705 (GRCm39)	A275T	possibly damaging	Het
Ccr4	T	A	9: 114,325,620 (GRCm39)		probably benign	Het
Cct8l1	C	T	5: 25,722,908 (GRCm39)	T541I	probably benign	Het
Chrng	G	T	1: 87,138,397 (GRCm39)	R396L	possibly damaging	Het
Cmip	A	G	8: 118,103,925 (GRCm39)	T50A	probably damaging	Het
Ddx21	C	A	10: 62,434,486 (GRCm39)	S91I	probably benign	Het
Dnmbp	A	G	19: 43,890,225 (GRCm39)	L514P	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eps8	A	G	6: 137,489,175 (GRCm39)	S408P	probably damaging	Het
Fat2	T	C	11: 55,200,896 (GRCm39)	E726G	probably damaging	Het
Fpr2	T	C	17: 18,113,190 (GRCm39)	I62T	probably benign	Het
Gemin4	G	A	11: 76,102,848 (GRCm39)	Q638*	probably null	Het
Glrb	A	T	3: 80,769,285 (GRCm39)	N147K	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,278,720 (GRCm39)	N637S	probably benign	Het
Hivep3	A	G	4: 119,953,937 (GRCm39)	E751G	possibly damaging	Het
Ifnb1	G	T	4: 88,440,547 (GRCm39)	N155K	probably damaging	Het
Igsf10	T	C	3: 59,243,633 (GRCm39)	M234V	probably benign	Het
Iqgap2	C	T	13: 95,818,711 (GRCm39)	A682T	probably benign	Het
Ireb2	T	G	9: 54,799,786 (GRCm39)	M409R	probably benign	Het
Kat6b	C	T	14: 21,719,629 (GRCm39)	T1327I	probably benign	Het
Krtap5-5	A	G	7: 141,783,630 (GRCm39)	S7P	unknown	Het
Lelp1	A	T	3: 92,042,978 (GRCm39)	C24S	unknown	Het
Malrd1	A	T	2: 16,260,145 (GRCm39)	K2122*	probably null	Het
Mei1	C	A	15: 81,954,212 (GRCm39)	R6S	unknown	Het
Meis3	T	A	7: 15,911,887 (GRCm39)	I119N	probably benign	Het
Mmp20	T	C	9: 7,639,288 (GRCm39)	V152A	probably benign	Het
Muc6	T	A	7: 141,233,791 (GRCm39)	I797F	possibly damaging	Het
Myo7a	C	T	7: 97,741,820 (GRCm39)	E439K	probably damaging	Het
Neb	C	A	2: 52,133,222 (GRCm39)	A3439S	probably damaging	Het
Nfe2l1	T	A	11: 96,708,620 (GRCm39)	D715V	unknown	Het
Obscn	C	A	11: 59,026,762 (GRCm39)	R147L	probably benign	Het
Or14j5	T	A	17: 38,162,101 (GRCm39)	M206K	probably benign	Het
Or2m12	T	A	16: 19,105,383 (GRCm39)	I37F	probably damaging	Het
Or2y1b	A	T	11: 49,209,206 (GRCm39)	T278S	probably benign	Het
Or4e5	G	A	14: 52,728,010 (GRCm39)	T137I	probably benign	Het
Or5d38	A	G	2: 87,954,778 (GRCm39)	S184P	probably damaging	Het
Plg	T	A	17: 12,629,790 (GRCm39)	F608Y	probably benign	Het
Plppr1	C	A	4: 49,319,836 (GRCm39)	P154Q	probably damaging	Het
Ppp2r5e	T	C	12: 75,500,570 (GRCm39)	K441R	probably benign	Het
Prkaca	T	C	8: 84,703,714 (GRCm39)	S5P	probably benign	Het
Rbl1	T	C	2: 157,041,420 (GRCm39)	K69R	probably benign	Het
Rbpms2	T	C	9: 65,558,351 (GRCm39)	I129T	probably benign	Het
Serpina1c	A	T	12: 103,865,117 (GRCm39)	N176K	probably damaging	Het
Sgsm3	C	T	15: 80,890,796 (GRCm39)	H117Y	probably damaging	Het
Sphkap	A	T	1: 83,256,685 (GRCm39)	C355S	probably benign	Het
Stpg2	T	A	3: 139,004,170 (GRCm39)	V249E	probably damaging	Het
Syt2	T	C	1: 134,675,391 (GRCm39)	V414A	possibly damaging	Het
Tiam2	T	C	17: 3,527,471 (GRCm39)	I1050T	probably benign	Het
Tmem131	A	T	1: 36,848,046 (GRCm39)	I1134N	probably damaging	Het
Ttc23	A	G	7: 67,342,761 (GRCm39)	E293G		Het
Ttc41	C	A	10: 86,548,865 (GRCm39)	R20S	probably benign	Het
Ttn	C	T	2: 76,571,133 (GRCm39)	V26587M	probably damaging	Het
Ugt2a2	T	C	5: 87,608,270 (GRCm39)	K523R	possibly damaging	Het
Unc13c	A	G	9: 73,656,830 (GRCm39)	C1124R	probably damaging	Het
Ush2a	T	A	1: 188,175,281 (GRCm39)	N1126K	probably damaging	Het
Usp36	A	T	11: 118,165,840 (GRCm39)	L326Q	probably damaging	Het
Zfp568	T	C	7: 29,713,307 (GRCm39)	M120T	probably benign	Het
Zfp944	T	C	17: 22,558,761 (GRCm39)	D162G	probably benign	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
R0541:Igf2bp3	UTSW	6	49,084,401 (GRCm39)	splice site	probably benign
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
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'- GAATGCTGCATGCCCCTTTC -3'
(R):5'- GGTTGATCCAAACTGTCTTCAAAG -3'

Sequencing Primer
(F):5'- TTTCCAGTCCCGGGCCAG -3'
(R):5'- CCAAACTGTCTTCAAAGTTAACTGAC -3'

Posted On

2021-08-02