Mutagenetix > Incidental Mutation

Incidental Mutation 'R0284:Igfbp1'

24620

Institutional Source

Beutler Lab

Gene Symbol

Igfbp1

Ensembl Gene

ENSMUSG00000020429

Gene Name

insulin-like growth factor binding protein 1

Synonyms

IGFBP-1

MMRRC Submission

038505-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7147787-7152546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7148103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 49 (S49P)

Ref Sequence

ENSEMBL: ENSMUSP00000020704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020704]

AlphaFold

P47876

Predicted Effect

probably damaging
Transcript: ENSMUST00000020704
AA Change: S49P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020704
Gene: ENSMUSG00000020429
AA Change: S49P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IB	30	108	2.18e-29	SMART
TY	216	268	8.86e-20	SMART

Meta Mutation Damage Score

0.1477

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene desplay a grossly normal phenotype but are more susceptible to liver injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	A	G	7: 30,013,413 (GRCm39)	T161A	probably benign	Het
Alox12e	A	G	11: 70,211,725 (GRCm39)		probably benign	Het
Ap1g2	A	G	14: 55,339,149 (GRCm39)		probably benign	Het
Arid2	A	T	15: 96,276,848 (GRCm39)		probably benign	Het
Bmp2k	A	T	5: 97,216,314 (GRCm39)	H604L	unknown	Het
Cacna1a	A	T	8: 85,338,914 (GRCm39)	M1705L	probably damaging	Het
Cacna1d	A	T	14: 29,794,062 (GRCm39)	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,467,975 (GRCm39)	R107G	possibly damaging	Het
Cklf	T	C	8: 104,988,207 (GRCm39)		probably benign	Het
Crabp1	A	G	9: 54,672,210 (GRCm39)	K9E	probably benign	Het
Cspg4	A	G	9: 56,793,423 (GRCm39)	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,515,014 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,464,684 (GRCm39)	V393E	probably damaging	Het
Ednrb	C	T	14: 104,057,449 (GRCm39)	G371D	probably damaging	Het
Efcab5	T	C	11: 76,994,353 (GRCm39)		probably benign	Het
Exoc2	A	T	13: 31,061,608 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,183,362 (GRCm39)		probably benign	Het
Foxo6	T	C	4: 120,126,199 (GRCm39)	S199G	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Gk5	A	T	9: 96,063,823 (GRCm39)		probably null	Het
Gys1	A	T	7: 45,086,143 (GRCm39)		probably benign	Het
Incenp	A	T	19: 9,871,357 (GRCm39)	S91T	unknown	Het
Itpkc	G	A	7: 26,913,968 (GRCm39)	R498*	probably null	Het
Kat6a	A	G	8: 23,429,819 (GRCm39)	T1725A	unknown	Het
Kiz	T	A	2: 146,705,730 (GRCm39)	C97S	probably benign	Het
Kri1	A	G	9: 21,187,848 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,058,106 (GRCm39)	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,602,967 (GRCm39)	T881A	probably damaging	Het
Man1a2	T	C	3: 100,592,102 (GRCm39)	H26R	probably damaging	Het
Map3k5	T	A	10: 19,876,359 (GRCm39)	F173I	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	A	G	12: 57,503,855 (GRCm39)	Q341R	probably damaging	Het
Mllt6	G	T	11: 97,569,431 (GRCm39)	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nipsnap3a	C	T	4: 52,997,178 (GRCm39)	T150I	probably benign	Het
Nsl1	A	G	1: 190,797,427 (GRCm39)	E97G	probably damaging	Het
Or11j4	G	A	14: 50,630,452 (GRCm39)	V80M	probably damaging	Het
Or4f54	T	C	2: 111,122,931 (GRCm39)	V106A	probably benign	Het
Or7g18	A	T	9: 18,786,848 (GRCm39)	Y72F	probably benign	Het
Or8c11	G	A	9: 38,289,880 (GRCm39)	M234I	probably benign	Het
Pakap	T	C	4: 57,855,207 (GRCm39)	F220L	probably damaging	Het
Pdcd6ip	A	G	9: 113,491,572 (GRCm39)	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,332,622 (GRCm39)	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,040,659 (GRCm39)	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,214,274 (GRCm39)		probably benign	Het
Rag2	T	C	2: 101,460,464 (GRCm39)	V258A	probably damaging	Het
S100a5	A	G	3: 90,518,881 (GRCm39)	I68V	probably benign	Het
Serpinb8	G	A	1: 107,530,648 (GRCm39)		probably null	Het
Slc24a4	T	C	12: 102,226,740 (GRCm39)	V492A	probably damaging	Het
Spag6l	T	A	16: 16,598,630 (GRCm39)	Q287L	probably damaging	Het
Spmip6	T	G	4: 41,507,538 (GRCm39)	E150A	probably damaging	Het
Synpo2	C	T	3: 122,873,383 (GRCm39)	W211*	probably null	Het
Tgtp1	A	G	11: 48,877,970 (GRCm39)	V245A	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,630,471 (GRCm39)		noncoding transcript	Het
Ttn	G	C	2: 76,677,048 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps13d	A	T	4: 144,871,372 (GRCm39)	M1900K	probably benign	Het
Vps41	A	T	13: 19,037,610 (GRCm39)	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,829,083 (GRCm39)	Y974C	probably damaging	Het
Zscan29	A	T	2: 120,997,214 (GRCm39)		probably benign	Het

Other mutations in Igfbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1292:Igfbp1	UTSW	11	7,150,863 (GRCm39)	missense	probably damaging	1.00
R1696:Igfbp1	UTSW	11	7,151,922 (GRCm39)	missense	probably damaging	1.00
R1696:Igfbp1	UTSW	11	7,147,978 (GRCm39)	missense	probably benign	0.30
R2940:Igfbp1	UTSW	11	7,151,970 (GRCm39)	missense	probably benign	0.00
R4060:Igfbp1	UTSW	11	7,148,091 (GRCm39)	missense	probably damaging	1.00
R5276:Igfbp1	UTSW	11	7,151,892 (GRCm39)	missense	probably damaging	1.00
R5308:Igfbp1	UTSW	11	7,149,919 (GRCm39)	critical splice donor site	probably null
R8103:Igfbp1	UTSW	11	7,148,106 (GRCm39)	missense	probably damaging	1.00
R8784:Igfbp1	UTSW	11	7,151,952 (GRCm39)	missense	probably damaging	1.00
R8865:Igfbp1	UTSW	11	7,151,929 (GRCm39)	missense	probably damaging	1.00
R8933:Igfbp1	UTSW	11	7,148,333 (GRCm39)	critical splice donor site	probably null
R9569:Igfbp1	UTSW	11	7,147,881 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGCGATGCCCGAGTTCCTAACTG -3'
(R):5'- CCAAGAGTGCCTTTGCCCTATCTG -3'

Sequencing Primer
(F):5'- AGTTCCTAACTGTTGTTTCTTGGC -3'
(R):5'- CTTCATGCTGGGAGCTGAAC -3'

Posted On

2013-04-16