Mutagenetix > Incidental Mutation

Incidental Mutation 'R3852:Igf1'

275981

Institutional Source

Beutler Lab

Gene Symbol

Igf1

Ensembl Gene

ENSMUSG00000020053

Gene Name

insulin-like growth factor 1

Synonyms

Igf-1, C730016P09Rik, Igf-I

MMRRC Submission

040784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3852 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87694127-87772904 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 87751181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 126 (K126*)

Ref Sequence

ENSEMBL: ENSMUSP00000122188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062862] [ENSMUST00000095360] [ENSMUST00000105300] [ENSMUST00000121161] [ENSMUST00000121952] [ENSMUST00000122100] [ENSMUST00000122386] [ENSMUST00000126490]

AlphaFold

P05017

Predicted Effect

probably null
Transcript: ENSMUST00000062862
AA Change: K126*

SMART Domains

Protein: ENSMUSP00000056668
Gene: ENSMUSG00000020053
AA Change: K126*

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
IlGF	35	93	9.22e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095360

SMART Domains

Protein: ENSMUSP00000093005
Gene: ENSMUSG00000020053

Domain	Start	End	E-Value	Type
IlGF	51	109	9.22e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000105300
AA Change: K142*

SMART Domains

Protein: ENSMUSP00000100937
Gene: ENSMUSG00000020053
AA Change: K142*

Domain	Start	End	E-Value	Type
IlGF	51	109	9.22e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121161

SMART Domains

Protein: ENSMUSP00000114120
Gene: ENSMUSG00000020053

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
IlGF	35	93	9.22e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121952

SMART Domains

Protein: ENSMUSP00000113177
Gene: ENSMUSG00000020053

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
IlGF	35	93	9.22e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000122100
AA Change: K126*

SMART Domains

Protein: ENSMUSP00000112878
Gene: ENSMUSG00000020053
AA Change: K126*

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
IlGF	35	93	9.22e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122386

SMART Domains

Protein: ENSMUSP00000113905
Gene: ENSMUSG00000020053

Domain	Start	End	E-Value	Type
IlGF	51	109	9.22e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000126490
AA Change: K126*

SMART Domains

Protein: ENSMUSP00000122188
Gene: ENSMUSG00000020053
AA Change: K126*

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
IlGF	35	93	9.22e-24	SMART

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (45/47)

MGI Phenotype

FUNCTION: This gene encodes a member of the insulin-like growth factor (IGF) family of proteins that promote growth and development during fetal and postnatal life. This gene is predominantly expressed in the liver and the encoded protein undergoes proteolytic processing to generate a disulfide-linked mature polypeptide. Transgenic disruption of this gene in mice results in reduced postnatal survival and severe growth retardation. Mice lacking the encoded protein exhibit generalized organ hypoplasia including underdevelopment of the central nervous system and developmental defects in bone, muscle and reproductive systems. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants are severely growth retarded and die perinatally with many immature organ systems. Heterozygotes and partial knockouts show genetic background effects and can display growth retardation and abnormalities in muscle, lungs, and CNS. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,379,189 (GRCm39)	V685A	probably damaging	Het
Abhd4	T	C	14: 54,502,824 (GRCm39)	Y44H	probably damaging	Het
AI429214	A	G	8: 37,461,596 (GRCm39)	D248G	probably damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
AY358078	A	G	14: 52,043,010 (GRCm39)	T233A	unknown	Het
Calcr	T	C	6: 3,693,735 (GRCm39)	Y353C	probably damaging	Het
Ccdc34	A	G	2: 109,862,773 (GRCm39)	K193E	possibly damaging	Het
Dhcr24	A	G	4: 106,431,070 (GRCm39)	E253G	probably benign	Het
Dnah6	A	G	6: 73,104,910 (GRCm39)	V1841A	possibly damaging	Het
Dpp10	A	T	1: 123,413,653 (GRCm39)	Y186*	probably null	Het
Dpysl4	C	T	7: 138,680,851 (GRCm39)	T575M	probably damaging	Het
Dusp7	T	A	9: 106,251,092 (GRCm39)	S406T	probably benign	Het
Gga3	T	A	11: 115,478,368 (GRCm39)	T475S	probably benign	Het
Gm10271	T	A	10: 116,792,779 (GRCm39)	K36*	probably null	Het
Gm572	G	A	4: 148,753,329 (GRCm39)	E325K	possibly damaging	Het
Golga2	A	G	2: 32,195,623 (GRCm39)	E806G	probably benign	Het
Itpkc	A	T	7: 26,927,037 (GRCm39)	N292K	probably benign	Het
Klhl1	A	T	14: 96,517,641 (GRCm39)	M345K	probably benign	Het
Lrp2	A	G	2: 69,367,909 (GRCm39)	V201A	probably damaging	Het
Lrrc8a	C	T	2: 30,151,972 (GRCm39)	T757M	probably benign	Het
Mios	T	A	6: 8,216,453 (GRCm39)	I459K	probably benign	Het
Mrps11	T	C	7: 78,440,393 (GRCm39)	I94T	probably damaging	Het
Ms4a4c	T	A	19: 11,393,759 (GRCm39)	S68T	probably benign	Het
Mstn	C	T	1: 53,101,130 (GRCm39)	T69I	possibly damaging	Het
Myo10	A	G	15: 25,779,712 (GRCm39)	K28E	probably damaging	Het
Nol6	A	G	4: 41,117,452 (GRCm39)	S914P	probably damaging	Het
Ntn1	C	G	11: 68,276,619 (GRCm39)	D110H	probably damaging	Het
Or51f1e	T	C	7: 102,747,391 (GRCm39)	S148P	probably damaging	Het
Or52b4	C	A	7: 102,184,487 (GRCm39)	H178N	probably benign	Het
Pcdh17	C	T	14: 84,684,699 (GRCm39)	Q389*	probably null	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Prr14l	T	C	5: 32,987,689 (GRCm39)	E602G	probably damaging	Het
Rusc2	C	A	4: 43,416,424 (GRCm39)	Q577K	probably benign	Het
Sacm1l	T	A	9: 123,416,641 (GRCm39)	M534K	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,105,884 (GRCm39)	T22M	probably benign	Het
Tas2r104	A	T	6: 131,661,888 (GRCm39)	C274S	probably benign	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Trim43c	T	A	9: 88,722,454 (GRCm39)	H33Q	probably damaging	Het
Ttc17	A	T	2: 94,199,758 (GRCm39)	I411K	possibly damaging	Het
Ttn	G	T	2: 76,581,678 (GRCm39)	L23072I	possibly damaging	Het
Ttn	A	C	2: 76,785,368 (GRCm39)	V669G	possibly damaging	Het
Vmn1r60	A	T	7: 5,548,026 (GRCm39)	F25I	possibly damaging	Het
Vmn2r9	A	G	5: 108,995,997 (GRCm39)	I217T	probably damaging	Het

Other mutations in Igf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02485:Igf1	APN	10	87,700,608 (GRCm39)	missense	probably benign
IGL03171:Igf1	APN	10	87,700,683 (GRCm39)	missense	probably damaging	1.00
R1850:Igf1	UTSW	10	87,697,236 (GRCm39)	missense	possibly damaging	0.47
R1962:Igf1	UTSW	10	87,700,726 (GRCm39)	missense	probably damaging	1.00
R2428:Igf1	UTSW	10	87,700,683 (GRCm39)	missense	probably damaging	1.00
R4757:Igf1	UTSW	10	87,751,287 (GRCm39)	missense	probably benign	0.01
R6893:Igf1	UTSW	10	87,700,722 (GRCm39)	missense	probably damaging	1.00
R6954:Igf1	UTSW	10	87,700,722 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATACGGTGGGCACAAGAGTC -3'
(R):5'- TCTAGCTTAGTGAGGACTGCC -3'

Sequencing Primer
(F):5'- AGTCAGAAAGGATATCACTGTGC -3'
(R):5'- AGGACTGCCTTGCTTCAGC -3'

Posted On

2015-04-06