Mutagenetix > Incidental Mutation

Incidental Mutation 'R6893:Igf1'

538169

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

044987-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6893 (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: 99.9%
3x: 99.8%
10x: 98.7%
20x: 95.2%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	A	8: 25,368,770 (GRCm39)	D538V	probably damaging	Het
Akap9	T	C	5: 4,011,709 (GRCm39)	I804T	probably benign	Het
Amy1	T	C	3: 113,357,281 (GRCm39)	E186G	probably benign	Het
Best1	A	G	19: 9,974,446 (GRCm39)	Y33H	probably damaging	Het
Cacna1s	C	A	1: 136,005,431 (GRCm39)	N405K	probably benign	Het
Casp7	T	C	19: 56,421,741 (GRCm39)	Y60H	probably damaging	Het
Ccdc61	T	C	7: 18,626,488 (GRCm39)	N367S	possibly damaging	Het
Cnksr3	A	T	10: 7,085,129 (GRCm39)		probably null	Het
Col14a1	A	C	15: 55,308,044 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,323,784 (GRCm39)	K424*	probably null	Het
Dnai3	T	C	3: 145,786,184 (GRCm39)	E366G	probably damaging	Het
Dpep3	T	C	8: 106,700,474 (GRCm39)	K411E	probably benign	Het
Ebf2	T	A	14: 67,475,008 (GRCm39)	V81E	probably benign	Het
Ehbp1	G	T	11: 21,964,945 (GRCm39)	T1084K	probably damaging	Het
Fastkd2	C	T	1: 63,770,953 (GRCm39)	A103V	possibly damaging	Het
Gtf3c2	T	C	5: 31,323,722 (GRCm39)	K525E	probably benign	Het
Hdac2	A	G	10: 36,873,003 (GRCm39)	E287G	probably damaging	Het
Ifi207	T	A	1: 173,555,208 (GRCm39)	T832S	possibly damaging	Het
Lef1	A	G	3: 130,909,149 (GRCm39)	D55G	possibly damaging	Het
Lipo2	G	T	19: 33,698,407 (GRCm39)	Y323*	probably null	Het
Mettl24	C	T	10: 40,613,794 (GRCm39)	R178C	probably damaging	Het
Naa80	A	G	9: 107,460,225 (GRCm39)	E40G	probably damaging	Het
Ndrg4	C	A	8: 96,433,229 (GRCm39)	C66*	probably null	Het
Nemf	A	G	12: 69,399,110 (GRCm39)	V140A	probably benign	Het
Nid2	T	A	14: 19,839,855 (GRCm39)	F815I	probably benign	Het
Or4c108	A	G	2: 88,804,143 (GRCm39)	F31L	probably benign	Het
Or5b106	A	C	19: 13,123,106 (GRCm39)	S306A	probably benign	Het
Or8b12c	A	C	9: 37,716,141 (GRCm39)	*311C	probably null	Het
Or8b3b	A	T	9: 38,584,355 (GRCm39)	N141K	possibly damaging	Het
Or8k30	A	G	2: 86,339,136 (GRCm39)	E111G	probably damaging	Het
Pcdhga3	T	C	18: 37,809,598 (GRCm39)	S684P	probably benign	Het
Plch1	A	T	3: 63,660,562 (GRCm39)	C352*	probably null	Het
Plscr2	G	A	9: 92,172,757 (GRCm39)	V139I	probably benign	Het
Ppa1	T	A	10: 61,508,182 (GRCm39)	C270S	probably benign	Het
Ryr2	T	A	13: 11,844,540 (GRCm39)	M399L	possibly damaging	Het
Scn3a	A	G	2: 65,356,098 (GRCm39)	V212A	possibly damaging	Het
Serpina3b	A	G	12: 104,099,285 (GRCm39)	K267E	probably benign	Het
Shroom3	A	G	5: 93,090,063 (GRCm39)	T938A	probably damaging	Het
Specc1	A	C	11: 62,023,279 (GRCm39)	S115R	probably benign	Het
Stim2	C	T	5: 54,210,787 (GRCm39)	T74I	probably benign	Het
Sult6b2	T	A	6: 142,750,025 (GRCm39)	D31V	possibly damaging	Het
Tbc1d24	A	T	17: 24,401,492 (GRCm39)	W406R	probably damaging	Het
Tmprss11b	A	G	5: 86,811,245 (GRCm39)		probably null	Het
Trappc9	A	G	15: 72,797,499 (GRCm39)	Y575H	possibly damaging	Het
Trim63	C	T	4: 134,050,412 (GRCm39)	T232M	probably damaging	Het
Ttn	A	T	2: 76,598,180 (GRCm39)	S19578T	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Xpo4	T	A	14: 57,819,767 (GRCm39)	E1139D	probably benign	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
R6954:Igf1	UTSW	10	87,700,722 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACCCAGAAGGATACCTGAAC -3'
(R):5'- ATGCCCCACTGAAGTGTTATGC -3'

Sequencing Primer
(F):5'- ATACCTGAACCTCCTTTTTATTTTCC -3'
(R):5'- TGCATACATTAAGGTGATGGATATGG -3'

Posted On

2018-11-06