Mutagenetix > Incidental Mutation

Incidental Mutation 'R1850:Igf1'

208014

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

039874-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87694127-87772904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87697236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 2 (T2P)

Ref Sequence

ENSEMBL: ENSMUSP00000056668 (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: T2P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056668
Gene: ENSMUSG00000020053
AA Change: T2P

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 benign
Transcript: ENSMUST00000105300

SMART Domains

Protein: ENSMUSP00000100937
Gene: ENSMUSG00000020053

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121161
AA Change: T2P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114120
Gene: ENSMUSG00000020053
AA Change: T2P

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
AA Change: T2P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113177
Gene: ENSMUSG00000020053
AA Change: T2P

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: ENSMUST00000122100
AA Change: T2P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112878
Gene: ENSMUSG00000020053
AA Change: T2P

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 benign
Transcript: ENSMUST00000126490
AA Change: T2P

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122188
Gene: ENSMUSG00000020053
AA Change: T2P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146581

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,876,644 (GRCm39)	Q202L	probably benign	Het
Adgb	C	A	10: 10,318,246 (GRCm39)	V199F	probably damaging	Het
Aff1	G	T	5: 103,981,773 (GRCm39)	R645S	probably damaging	Het
Aoc1	C	T	6: 48,882,202 (GRCm39)	S48F	probably benign	Het
Atf6	A	T	1: 170,646,855 (GRCm39)	N339K	probably damaging	Het
Bpifb3	C	G	2: 153,771,264 (GRCm39)	S392C	possibly damaging	Het
Camk1d	T	C	2: 5,366,826 (GRCm39)	M130V	probably benign	Het
Ces1a	T	A	8: 93,753,954 (GRCm39)	N350Y	probably damaging	Het
Cfap57	G	A	4: 118,457,091 (GRCm39)	R453C	probably damaging	Het
Chd4	T	A	6: 125,098,619 (GRCm39)	N1532K	probably damaging	Het
Chd5	T	C	4: 152,454,990 (GRCm39)	L824P	probably damaging	Het
Ckap5	G	A	2: 91,426,058 (GRCm39)	R1306H	probably damaging	Het
Crybg1	A	G	10: 43,873,670 (GRCm39)	F1146S	probably damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Dync2h1	T	C	9: 7,001,448 (GRCm39)	T3854A	probably benign	Het
Echdc1	A	T	10: 29,220,599 (GRCm39)	I252F	probably damaging	Het
Emc1	A	T	4: 139,086,684 (GRCm39)		probably benign	Het
Fbn2	C	A	18: 58,172,377 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,814,933 (GRCm39)	N3555K	possibly damaging	Het
Gabra1	T	A	11: 42,070,403 (GRCm39)	T20S	probably benign	Het
Insyn1	A	T	9: 58,406,392 (GRCm39)	M101L	probably benign	Het
Jcad	C	A	18: 4,675,730 (GRCm39)	T1164N	possibly damaging	Het
Kalrn	A	T	16: 33,796,293 (GRCm39)	S2830T	probably damaging	Het
Lepr	C	A	4: 101,590,620 (GRCm39)	A66E	possibly damaging	Het
Lmntd1	T	A	6: 145,359,206 (GRCm39)	M315L	probably benign	Het
Lrch3	A	G	16: 32,807,163 (GRCm39)	T479A	probably benign	Het
Macroh2a1	T	C	13: 56,244,052 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,715,110 (GRCm39)	N237D	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtif2	A	G	11: 29,490,683 (GRCm39)	I462M	probably benign	Het
Nrip1	T	C	16: 76,090,232 (GRCm39)	I442V	probably damaging	Het
Or11g25	G	A	14: 50,723,055 (GRCm39)	A47T	probably benign	Het
Or6b2b	T	A	1: 92,419,124 (GRCm39)	M118L	possibly damaging	Het
Or8k35	A	T	2: 86,424,448 (GRCm39)	C241*	probably null	Het
Otogl	T	A	10: 107,713,925 (GRCm39)	Y498F	probably damaging	Het
Pbx3	A	T	2: 34,066,832 (GRCm39)	F351I	probably benign	Het
Pcdh18	T	C	3: 49,710,854 (GRCm39)	T154A	probably benign	Het
Pex5l	A	T	3: 33,005,025 (GRCm39)		probably null	Het
Plec	T	C	15: 76,072,432 (GRCm39)	I718V	probably benign	Het
Pparg	T	A	6: 115,427,941 (GRCm39)	Y143N	probably damaging	Het
Prl2c5	A	G	13: 13,360,377 (GRCm39)	I12V	probably benign	Het
Rcor3	T	A	1: 191,804,411 (GRCm39)	Q246L	probably benign	Het
Rnf214	A	T	9: 45,780,746 (GRCm39)		probably benign	Het
S1pr5	A	T	9: 21,155,425 (GRCm39)	S334T	probably benign	Het
Scg3	C	T	9: 75,589,449 (GRCm39)	S35N	possibly damaging	Het
Septin5	A	T	16: 18,443,960 (GRCm39)	L19Q	probably damaging	Het
Serpinb7	T	C	1: 107,356,025 (GRCm39)	F16S	probably damaging	Het
Sipa1l3	A	T	7: 29,038,551 (GRCm39)	S365R	probably damaging	Het
Slc27a1	T	C	8: 72,033,347 (GRCm39)		probably null	Het
Slc2a10	C	A	2: 165,357,133 (GRCm39)	H264Q	probably benign	Het
Slc9a3	A	G	13: 74,309,889 (GRCm39)	I526V	probably benign	Het
Smchd1	T	C	17: 71,696,766 (GRCm39)	D1203G	probably damaging	Het
Spata6l	T	C	19: 28,916,571 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,668,700 (GRCm39)	W181R	probably damaging	Het
Supt6	A	G	11: 78,110,703 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,775,497 (GRCm39)	A418S	probably damaging	Het
Tesk1	C	T	4: 43,443,576 (GRCm39)	R48C	probably damaging	Het
Tiam2	A	G	17: 3,487,510 (GRCm39)	Q677R	probably damaging	Het
Tspan8	C	T	10: 115,669,130 (GRCm39)	A55V	probably damaging	Het
Txndc11	T	C	16: 10,906,268 (GRCm39)	N421D	probably damaging	Het
Vmn1r201	A	G	13: 22,658,801 (GRCm39)	N5S	probably benign	Het
Vmn2r120	T	A	17: 57,832,826 (GRCm39)	I118L	probably benign	Het
Vps13b	A	T	15: 35,675,105 (GRCm39)		probably benign	Het
Wdfy3	A	G	5: 102,042,865 (GRCm39)	V1962A	probably damaging	Het
Zswim8	C	T	14: 20,760,815 (GRCm39)	R107*	probably null	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
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
R6954:Igf1	UTSW	10	87,700,722 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGAGTGGCTTCCCTTGGG -3'
(R):5'- ATCCTGAACTCAGAACACTTTCCTC -3'

Sequencing Primer
(F):5'- TGGACAAAAGGCAGTTTACCC -3'
(R):5'- GAACACTTTCCTCAAAGATCACTG -3'

Posted On

2014-06-23