Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Igf1'

541379

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

045066-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87694127-87772904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 87700722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 49 (V49L)

Ref Sequence

ENSEMBL: ENSMUSP00000113177 (fasta)

Gene Model

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

AlphaFold

P05017

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062862
AA Change: V49L

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056668
Gene: ENSMUSG00000020053
AA Change: V49L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095360
AA Change: V65L

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093005
Gene: ENSMUSG00000020053
AA Change: V65L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105300
AA Change: V65L

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100937
Gene: ENSMUSG00000020053
AA Change: V65L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121161
AA Change: V49L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114120
Gene: ENSMUSG00000020053
AA Change: V49L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121952
AA Change: V49L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113177
Gene: ENSMUSG00000020053
AA Change: V49L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122100
AA Change: V49L

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112878
Gene: ENSMUSG00000020053
AA Change: V49L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122386
AA Change: V65L

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113905
Gene: ENSMUSG00000020053
AA Change: V65L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126490
AA Change: V49L

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122188
Gene: ENSMUSG00000020053
AA Change: V49L

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

Meta Mutation Damage Score

0.5482

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,429,809 (GRCm39)		probably null	Het
Alox5	A	C	6: 116,397,241 (GRCm39)	Y314*	probably null	Het
Ap4e1	T	C	2: 126,906,871 (GRCm39)	S1044P	probably benign	Het
Ash2l	A	G	8: 26,312,796 (GRCm39)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 140,647,145 (GRCm39)	T326A	probably benign	Het
Ccm2	T	A	11: 6,544,239 (GRCm39)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,896,373 (GRCm39)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,483,696 (GRCm39)	L849S	probably damaging	Het
Ctrb1	A	G	8: 112,413,296 (GRCm39)	S239P	probably damaging	Het
Dennd1b	T	A	1: 139,096,683 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,957,258 (GRCm39)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,272,817 (GRCm39)	F267L	probably damaging	Het
Fcrl2	A	G	3: 87,170,983 (GRCm39)		probably benign	Het
Furin	G	T	7: 80,046,712 (GRCm39)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,128,317 (GRCm39)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,105,300 (GRCm39)	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,380,739 (GRCm39)	I191N	probably damaging	Het
Hspa12a	T	C	19: 58,788,124 (GRCm39)	D566G	probably benign	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm39)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,939,851 (GRCm39)	R16C	probably benign	Het
Lypd8l	T	A	11: 58,499,314 (GRCm39)	Y168F	probably benign	Het
Marf1	A	G	16: 13,956,384 (GRCm39)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,767,948 (GRCm39)	S428T	probably benign	Het
Myo1d	T	C	11: 80,565,783 (GRCm39)	I347M	probably benign	Het
Myo9b	A	G	8: 71,743,463 (GRCm39)	I175V	probably damaging	Het
Naip5	A	T	13: 100,359,922 (GRCm39)	V438E	probably damaging	Het
Nup205	T	A	6: 35,185,044 (GRCm39)	V768E	possibly damaging	Het
Or4k6	A	T	14: 50,475,567 (GRCm39)	Y258*	probably null	Het
Or9g4b	T	A	2: 85,616,726 (GRCm39)	Y290*	probably null	Het
Pcdh15	C	T	10: 74,481,821 (GRCm39)	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,334,055 (GRCm39)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,481,622 (GRCm39)	I791M	probably benign	Het
Pik3c2b	T	G	1: 132,994,041 (GRCm39)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 94,975,558 (GRCm39)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,702,054 (GRCm39)	L1294*	probably null	Het
Pprc1	T	C	19: 46,052,872 (GRCm39)	S797P	probably damaging	Het
Prob1	A	G	18: 35,787,321 (GRCm39)	V311A	probably benign	Het
Prune2	C	A	19: 16,977,385 (GRCm39)	T40K	probably damaging	Het
Rif1	T	G	2: 52,002,703 (GRCm39)	D2052E	probably benign	Het
Sall1	A	G	8: 89,759,519 (GRCm39)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,474,729 (GRCm39)		probably null	Het
Sidt2	A	T	9: 45,864,148 (GRCm39)	N123K	probably benign	Het
Slc22a6	G	A	19: 8,599,460 (GRCm39)	A320T	probably benign	Het
Slc25a10	A	G	11: 120,388,973 (GRCm39)	H279R	probably benign	Het
Slc35b4	A	G	6: 34,135,556 (GRCm39)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,823,150 (GRCm39)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,691,905 (GRCm39)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,517,782 (GRCm39)	T87I	probably benign	Het
Tcstv6	A	G	13: 120,307,666 (GRCm39)	D20G	possibly damaging	Het
Tdpoz2	A	T	3: 93,559,582 (GRCm39)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,411,921 (GRCm39)		probably null	Het
Tmppe	G	A	9: 114,234,591 (GRCm39)	V297I	probably benign	Het
Ung	G	T	5: 114,269,398 (GRCm39)	A37S	probably benign	Het
Vdac1	T	C	11: 52,277,200 (GRCm39)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,898,328 (GRCm39)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,933,437 (GRCm39)	I27T	probably benign	Het
Zfp280b	T	A	10: 75,875,522 (GRCm39)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,668,535 (GRCm39)	I329V	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
R3852:Igf1	UTSW	10	87,751,181 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- AGGACCCAGAAGGATACCTG -3'
(R):5'- ATGCCCCACTGAAGTGTTATG -3'

Sequencing Primer
(F):5'- CAGAAGGATACCTGAACCTCC -3'
(R):5'- GCCCCACTGAAGTGTTATGCATAC -3'

Posted On

2018-11-28