Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02957:Igf2bp3'

365168

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igf2bp3

Ensembl Gene

ENSMUSG00000029814

Gene Name

insulin-like growth factor 2 mRNA binding protein 3

Synonyms

2610101N11Rik, IMP3, Koc13

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02957

Quality Score

Status

Chromosome

Chromosomal Location

49062157-49191891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 49064338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 560 (V560L)

Ref Sequence

ENSEMBL: ENSMUSP00000031838 (fasta)

Gene Model

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

AlphaFold

Q9CPN8

Predicted Effect

probably benign
Transcript: ENSMUST00000031838
AA Change: V560L

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031838
Gene: ENSMUSG00000029814
AA Change: V560L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205243

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,509,945 (GRCm39)	D262G	probably damaging	Het
Abtb3	T	A	10: 85,469,701 (GRCm39)	M405K	probably damaging	Het
Abtb3	C	T	10: 85,467,150 (GRCm39)		probably benign	Het
Ahcyl1	G	T	3: 107,574,958 (GRCm39)	Q462K	probably damaging	Het
C8b	A	G	4: 104,623,652 (GRCm39)	T20A	probably benign	Het
Casd1	T	A	6: 4,634,068 (GRCm39)	Y594N	possibly damaging	Het
Crtc2	C	T	3: 90,169,840 (GRCm39)	P412L	probably damaging	Het
Cyp3a44	T	A	5: 145,716,472 (GRCm39)	R373*	probably null	Het
Dnah10	A	G	5: 124,840,197 (GRCm39)	D1277G	probably benign	Het
Dnah2	A	T	11: 69,339,333 (GRCm39)	V3058E	possibly damaging	Het
Eif3l	T	C	15: 78,974,028 (GRCm39)	L481P	probably benign	Het
Fbxw7	A	T	3: 84,883,544 (GRCm39)	T573S	probably benign	Het
Fcgbp	C	A	7: 27,791,272 (GRCm39)	Y844*	probably null	Het
Fcrl2	C	A	3: 87,169,501 (GRCm39)	V13F	possibly damaging	Het
Gbx2	T	G	1: 89,858,375 (GRCm39)	S35R	probably benign	Het
H2-M9	A	G	17: 36,953,049 (GRCm39)	L86S	probably benign	Het
Hebp1	C	T	6: 135,114,990 (GRCm39)	G157D	probably benign	Het
Igsf10	A	G	3: 59,238,285 (GRCm39)	I632T	probably damaging	Het
Kcnab2	A	T	4: 152,520,326 (GRCm39)	S5T	possibly damaging	Het
Kcnh5	T	C	12: 75,054,439 (GRCm39)	S502G	probably benign	Het
Lpcat2	T	A	8: 93,602,212 (GRCm39)	Y224*	probably null	Het
Mcrip2	A	G	17: 26,087,499 (GRCm39)	V24A	probably damaging	Het
Mttp	T	C	3: 137,814,842 (GRCm39)	K493E	possibly damaging	Het
Myl7	A	G	11: 5,847,137 (GRCm39)	S139P	possibly damaging	Het
Npepps	C	T	11: 97,133,478 (GRCm39)	R268H	probably damaging	Het
Oas1c	C	T	5: 120,943,478 (GRCm39)	W18*	probably null	Het
Or10ak7	G	T	4: 118,791,316 (GRCm39)	T241N	probably damaging	Het
P4ha3	T	C	7: 99,968,112 (GRCm39)		probably benign	Het
Pate14	G	T	9: 36,549,146 (GRCm39)	T38K	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pkhd1l1	T	A	15: 44,376,304 (GRCm39)	W989R	probably damaging	Het
Podxl	A	G	6: 31,505,384 (GRCm39)		probably benign	Het
Pot1b	T	C	17: 56,007,009 (GRCm39)	Y36C	probably damaging	Het
Ppme1	A	T	7: 99,987,647 (GRCm39)	I103K	possibly damaging	Het
Ppp1r12a	T	C	10: 108,034,779 (GRCm39)	I108T	probably damaging	Het
Pramel1	A	G	4: 143,124,168 (GRCm39)	H281R	probably benign	Het
Prep	T	C	10: 45,002,126 (GRCm39)	V427A	probably benign	Het
Prkce	A	G	17: 86,803,454 (GRCm39)	D451G	possibly damaging	Het
Prrc2c	A	G	1: 162,534,104 (GRCm39)		probably benign	Het
Ramacl	A	T	13: 67,056,277 (GRCm39)		probably benign	Het
Rrm2	A	G	12: 24,758,440 (GRCm39)	N32S	probably damaging	Het
Sema6a	A	G	18: 47,382,291 (GRCm39)	L752P	probably damaging	Het
Sik3	T	A	9: 46,107,143 (GRCm39)	I429N	possibly damaging	Het
Slc22a29	A	G	19: 8,147,354 (GRCm39)	L336P	probably benign	Het
Stk32a	A	T	18: 43,445,057 (GRCm39)	M284L	probably benign	Het
Syde2	T	C	3: 145,694,934 (GRCm39)		probably benign	Het
Tcta	G	A	9: 108,182,531 (GRCm39)	S91F	possibly damaging	Het
Traf3ip2	A	T	10: 39,530,406 (GRCm39)	T517S	probably damaging	Het
Trpv3	A	G	11: 73,176,698 (GRCm39)	Y359C	probably damaging	Het
Vmn1r66	A	G	7: 10,008,737 (GRCm39)	S99P	probably damaging	Het
Vmn2r8	G	A	5: 108,950,091 (GRCm39)	T252M	probably benign	Het
Wdr27	A	T	17: 15,130,372 (GRCm39)		probably benign	Het
Yipf1	A	G	4: 107,193,347 (GRCm39)	T78A	probably damaging	Het
Zfp735	A	T	11: 73,601,755 (GRCm39)	Y233F	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
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
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

Posted On

2015-12-18