Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03257:Igf1r'

414699

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igf1r

Ensembl Gene

ENSMUSG00000005533

Gene Name

insulin-like growth factor I receptor

Synonyms

line 186, A330103N21Rik, CD221, hyft, IGF-1R

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03257

Quality Score

Status

Chromosome

Chromosomal Location

67952827-68233668 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68214940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1162 (I1162N)

Ref Sequence

ENSEMBL: ENSMUSP00000005671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005671]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000005671
AA Change: I1162N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: I1162N

Domain	Start	End	E-Value	Type
Pfam:Recep_L_domain	51	161	1.6e-29	PFAM
FU	227	270	2.98e-12	SMART
Pfam:Recep_L_domain	353	467	3.8e-32	PFAM
FN3	490	593	4.67e-2	SMART
FN3	612	815	1.95e-4	SMART
FN3	833	915	7.4e-5	SMART
low complexity region	937	954	N/A	INTRINSIC
TyrKc	1000	1268	8.51e-141	SMART
low complexity region	1285	1303	N/A	INTRINSIC
low complexity region	1306	1319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208871

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	C	A	14: 118,615,211 (GRCm38)	V489L	probably benign	Het
Alpk2	C	A	18: 65,349,874 (GRCm38)	E354D	probably damaging	Het
Ank1	A	T	8: 23,122,898 (GRCm38)	K1060M	probably damaging	Het
Cand2	A	G	6: 115,799,983 (GRCm38)	N1111D	possibly damaging	Het
Ccny	A	T	18: 9,386,747 (GRCm38)	S73T	possibly damaging	Het
Clps	T	C	17: 28,560,660 (GRCm38)		probably benign	Het
Cnga1	C	A	5: 72,610,862 (GRCm38)	W160C	probably damaging	Het
Col6a5	T	C	9: 105,881,873 (GRCm38)	S2045G	possibly damaging	Het
Dennd4a	T	G	9: 64,871,874 (GRCm38)	N546K	possibly damaging	Het
Efcab5	A	T	11: 77,188,770 (GRCm38)	M50K	probably damaging	Het
Fntb	A	G	12: 76,888,031 (GRCm38)	H228R	probably damaging	Het
Gm4787	C	T	12: 81,378,052 (GRCm38)	C444Y	probably damaging	Het
Gpm6a	A	G	8: 55,037,472 (GRCm38)	Y61C	probably damaging	Het
Grm5	T	A	7: 87,602,898 (GRCm38)	S119T	possibly damaging	Het
Irx5	A	G	8: 92,360,630 (GRCm38)	T397A	probably benign	Het
Kdm1b	C	T	13: 47,049,266 (GRCm38)	T59M	probably damaging	Het
Lrrc9	T	A	12: 72,449,768 (GRCm38)	S57T	probably benign	Het
Nup210l	A	T	3: 90,180,148 (GRCm38)		probably null	Het
Or5p52	T	C	7: 107,902,756 (GRCm38)	I13T	probably benign	Het
Or8k27	A	T	2: 86,445,890 (GRCm38)	F31I	probably damaging	Het
Prl8a1	A	G	13: 27,575,673 (GRCm38)	I127T	probably damaging	Het
Psme1	T	C	14: 55,580,629 (GRCm38)	I142T	probably damaging	Het
Ptbp3	A	T	4: 59,493,370 (GRCm38)		probably benign	Het
Rnf20	T	A	4: 49,645,687 (GRCm38)	N321K	probably benign	Het
Ttc23	T	C	7: 67,711,378 (GRCm38)	S340P	probably damaging	Het
Txnrd1	A	T	10: 82,885,271 (GRCm38)	K393I	probably benign	Het
Zfp365	A	T	10: 67,889,038 (GRCm38)	F340Y	possibly damaging	Het
Zfp451	C	A	1: 33,777,048 (GRCm38)	R607L	possibly damaging	Het
Zfp618	A	G	4: 63,132,671 (GRCm38)	Y563C	probably damaging	Het

Other mutations in Igf1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Igf1r	APN	7	68,190,023 (GRCm38)	missense	probably benign
IGL00837:Igf1r	APN	7	68,201,352 (GRCm38)	splice site	probably benign
IGL01515:Igf1r	APN	7	68,207,452 (GRCm38)	missense	probably damaging	1.00
IGL01572:Igf1r	APN	7	68,193,441 (GRCm38)	missense	probably benign	0.01
IGL02100:Igf1r	APN	7	68,189,958 (GRCm38)	missense	probably benign	0.05
IGL02506:Igf1r	APN	7	68,193,396 (GRCm38)	missense	probably benign
IGL02672:Igf1r	APN	7	68,190,033 (GRCm38)	missense	probably benign	0.05
IGL02701:Igf1r	APN	7	68,201,249 (GRCm38)	missense	possibly damaging	0.93
IGL02742:Igf1r	APN	7	68,189,991 (GRCm38)	missense	possibly damaging	0.94
IGL03073:Igf1r	APN	7	68,215,043 (GRCm38)	missense	probably damaging	1.00
Frufru	UTSW	7	68,004,163 (GRCm38)	missense	probably damaging	1.00
Hungarian	UTSW	7	68,214,997 (GRCm38)	missense	probably damaging	1.00
Mimi	UTSW	7	68,195,026 (GRCm38)	missense	possibly damaging	0.67
Piroshka	UTSW	7	68,207,336 (GRCm38)	nonsense	probably null
Romanian	UTSW	7	68,004,137 (GRCm38)	missense	possibly damaging	0.94
Sublime	UTSW	7	68,004,179 (GRCm38)	missense	probably damaging	1.00
Toy	UTSW	7	68,003,972 (GRCm38)	missense	probably damaging	1.00
BB009:Igf1r	UTSW	7	68,212,054 (GRCm38)	missense	possibly damaging	0.88
BB019:Igf1r	UTSW	7	68,212,054 (GRCm38)	missense	possibly damaging	0.88
FR4548:Igf1r	UTSW	7	68,226,186 (GRCm38)	small insertion	probably benign
FR4737:Igf1r	UTSW	7	68,226,181 (GRCm38)	small insertion	probably benign
FR4976:Igf1r	UTSW	7	68,226,186 (GRCm38)	small insertion	probably benign
FR4976:Igf1r	UTSW	7	68,226,181 (GRCm38)	small insertion	probably benign
PIT4445001:Igf1r	UTSW	7	68,207,463 (GRCm38)	missense	probably damaging	1.00
R0003:Igf1r	UTSW	7	68,165,242 (GRCm38)	missense	probably damaging	1.00
R0184:Igf1r	UTSW	7	68,226,193 (GRCm38)	missense	possibly damaging	0.84
R0538:Igf1r	UTSW	7	68,207,826 (GRCm38)	missense	probably damaging	1.00
R0632:Igf1r	UTSW	7	68,165,155 (GRCm38)	missense	probably damaging	1.00
R0727:Igf1r	UTSW	7	68,212,158 (GRCm38)	critical splice donor site	probably null
R0750:Igf1r	UTSW	7	68,212,091 (GRCm38)	missense	probably damaging	0.99
R1104:Igf1r	UTSW	7	68,195,026 (GRCm38)	missense	possibly damaging	0.67
R1169:Igf1r	UTSW	7	68,165,127 (GRCm38)	missense	probably benign	0.00
R1348:Igf1r	UTSW	7	68,218,468 (GRCm38)	missense	probably damaging	1.00
R1471:Igf1r	UTSW	7	68,003,837 (GRCm38)	missense	probably damaging	0.98
R1580:Igf1r	UTSW	7	68,207,869 (GRCm38)	missense	probably benign
R1745:Igf1r	UTSW	7	68,169,913 (GRCm38)	missense	probably damaging	1.00
R1772:Igf1r	UTSW	7	68,195,074 (GRCm38)	missense	probably benign	0.03
R1789:Igf1r	UTSW	7	68,214,933 (GRCm38)	nonsense	probably null
R1823:Igf1r	UTSW	7	68,194,981 (GRCm38)	missense	possibly damaging	0.77
R1902:Igf1r	UTSW	7	68,201,249 (GRCm38)	missense	possibly damaging	0.93
R1962:Igf1r	UTSW	7	68,207,275 (GRCm38)	missense	probably damaging	0.99
R2179:Igf1r	UTSW	7	68,003,950 (GRCm38)	missense	probably damaging	0.99
R2215:Igf1r	UTSW	7	68,165,234 (GRCm38)	missense	probably benign
R2221:Igf1r	UTSW	7	68,201,962 (GRCm38)	missense	probably damaging	1.00
R2233:Igf1r	UTSW	7	68,212,080 (GRCm38)	missense	probably damaging	1.00
R2234:Igf1r	UTSW	7	68,212,080 (GRCm38)	missense	probably damaging	1.00
R2235:Igf1r	UTSW	7	68,212,080 (GRCm38)	missense	probably damaging	1.00
R3023:Igf1r	UTSW	7	68,183,399 (GRCm38)	missense	probably benign	0.00
R4044:Igf1r	UTSW	7	68,190,062 (GRCm38)	missense	possibly damaging	0.83
R4226:Igf1r	UTSW	7	68,195,078 (GRCm38)	nonsense	probably null
R4387:Igf1r	UTSW	7	68,170,009 (GRCm38)	missense	probably benign
R4388:Igf1r	UTSW	7	68,170,009 (GRCm38)	missense	probably benign
R4728:Igf1r	UTSW	7	68,189,624 (GRCm38)	missense	probably damaging	1.00
R4781:Igf1r	UTSW	7	68,165,199 (GRCm38)	missense	possibly damaging	0.75
R5254:Igf1r	UTSW	7	68,207,319 (GRCm38)	missense	probably damaging	0.99
R5278:Igf1r	UTSW	7	68,193,418 (GRCm38)	missense	possibly damaging	0.78
R5510:Igf1r	UTSW	7	68,193,359 (GRCm38)	missense	probably benign	0.19
R5522:Igf1r	UTSW	7	68,183,510 (GRCm38)	missense	probably damaging	0.96
R5527:Igf1r	UTSW	7	68,207,821 (GRCm38)	missense	probably damaging	1.00
R5761:Igf1r	UTSW	7	68,207,253 (GRCm38)	missense	probably damaging	1.00
R5849:Igf1r	UTSW	7	68,190,033 (GRCm38)	missense	probably benign
R6189:Igf1r	UTSW	7	68,207,336 (GRCm38)	nonsense	probably null
R6262:Igf1r	UTSW	7	68,003,972 (GRCm38)	missense	probably damaging	1.00
R6285:Igf1r	UTSW	7	68,004,137 (GRCm38)	missense	possibly damaging	0.94
R6318:Igf1r	UTSW	7	68,165,233 (GRCm38)	missense	probably benign	0.02
R6365:Igf1r	UTSW	7	68,190,050 (GRCm38)	missense	probably benign	0.26
R6377:Igf1r	UTSW	7	68,201,250 (GRCm38)	missense	probably benign	0.00
R6831:Igf1r	UTSW	7	68,207,319 (GRCm38)	missense	possibly damaging	0.75
R6848:Igf1r	UTSW	7	68,004,179 (GRCm38)	missense	probably damaging	1.00
R6902:Igf1r	UTSW	7	68,004,163 (GRCm38)	missense	probably damaging	1.00
R7193:Igf1r	UTSW	7	68,187,157 (GRCm38)	missense	probably damaging	1.00
R7373:Igf1r	UTSW	7	68,195,078 (GRCm38)	nonsense	probably null
R7442:Igf1r	UTSW	7	68,173,278 (GRCm38)	missense	probably damaging	1.00
R7903:Igf1r	UTSW	7	68,184,752 (GRCm38)	missense	probably damaging	1.00
R7923:Igf1r	UTSW	7	68,190,101 (GRCm38)	missense	probably damaging	1.00
R7932:Igf1r	UTSW	7	68,212,054 (GRCm38)	missense	possibly damaging	0.88
R8368:Igf1r	UTSW	7	68,187,048 (GRCm38)	missense	probably benign	0.03
R8458:Igf1r	UTSW	7	68,195,629 (GRCm38)	missense	probably benign
R8539:Igf1r	UTSW	7	68,003,848 (GRCm38)	missense	probably benign	0.06
R8704:Igf1r	UTSW	7	68,170,054 (GRCm38)	splice site	probably benign
R8746:Igf1r	UTSW	7	68,214,997 (GRCm38)	missense	probably damaging	1.00
R8829:Igf1r	UTSW	7	68,226,021 (GRCm38)	missense	probably damaging	1.00
R8832:Igf1r	UTSW	7	68,226,021 (GRCm38)	missense	probably damaging	1.00
R8859:Igf1r	UTSW	7	68,183,463 (GRCm38)	missense	possibly damaging	0.75
R9057:Igf1r	UTSW	7	68,183,438 (GRCm38)	missense	probably damaging	1.00
R9243:Igf1r	UTSW	7	68,212,027 (GRCm38)	missense	probably benign	0.11
R9342:Igf1r	UTSW	7	68,194,998 (GRCm38)	missense	probably benign	0.00
R9412:Igf1r	UTSW	7	68,207,253 (GRCm38)	missense	probably damaging	1.00
R9525:Igf1r	UTSW	7	68,214,934 (GRCm38)	missense	probably damaging	1.00
R9727:Igf1r	UTSW	7	68,207,806 (GRCm38)	missense	probably damaging	1.00
R9730:Igf1r	UTSW	7	68,189,675 (GRCm38)	missense	probably damaging	1.00
R9779:Igf1r	UTSW	7	68,004,317 (GRCm38)	missense	probably damaging	1.00
RF025:Igf1r	UTSW	7	68,226,179 (GRCm38)	small insertion	probably benign
RF032:Igf1r	UTSW	7	68,226,179 (GRCm38)	small insertion	probably benign
RF034:Igf1r	UTSW	7	68,226,176 (GRCm38)	small insertion	probably benign
RF037:Igf1r	UTSW	7	68,226,176 (GRCm38)	small insertion	probably benign
RF039:Igf1r	UTSW	7	68,226,176 (GRCm38)	small insertion	probably benign
RF044:Igf1r	UTSW	7	68,226,179 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,168 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,182 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,180 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,174 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,169 (GRCm38)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	68,226,170 (GRCm38)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	68,226,169 (GRCm38)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	68,226,173 (GRCm38)	small insertion	probably benign

Posted On

2016-08-02