Mutagenetix > Incidental Mutation

Incidental Mutation 'RF032:Igf1r'

604414

Institutional Source

Beutler Lab

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 #

RF032 (G1)

Quality Score

217.002

Status

Not validated

Chromosome

Chromosomal Location

67952827-68233668 bp(+) (GRCm38)

Type of Mutation

small insertion (4 aa in frame mutation)

DNA Base Change (assembly)

GATGGAGC to GATGGAGCTGGATATGGAGC at 68226179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000005671 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005671

SMART Domains

Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	TACCT	TACCTGACCT	17: 24,287,727 (GRCm38)		probably null	Het
Acap3	CTGCTG	CTGCTGCATCCTGGGATGCTG	4: 155,905,102 (GRCm38)		probably benign	Het
Arid1b	GCG	GCGTCG	17: 4,995,588 (GRCm38)		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCGTCC	7: 80,512,930 (GRCm38)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,620,063 (GRCm38)		probably null	Het
Calhm1	C	CTGTGGCCGTGG	19: 47,141,283 (GRCm38)		probably null	Het
Cluh	CCCGAGCC	CCCGAGCCCGAGCC	11: 74,669,515 (GRCm38)		probably benign	Het
Cyb5r4	ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,413 (GRCm38)		probably benign	Het
Dmkn	GT	GTTGTGAAAGTGGTGGAAGTGGTGGAATT	7: 30,767,182 (GRCm38)		probably benign	Het
Efhd2	CGCC	CGCCGCAGCC	4: 141,874,772 (GRCm38)		probably benign	Het
Enah	TGGCGGTGG	TG	1: 181,921,929 (GRCm38)		probably null	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778 (GRCm38)		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,120,294 (GRCm38)		probably null	Het
Ifi207	GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC	GCCTGAGCTGTGGAAGTCTC	1: 173,735,157 (GRCm38)		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,042,258 (GRCm38)		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,640,489 (GRCm38)		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,981 (GRCm38)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,985 (GRCm38)		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,989 (GRCm38)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,711 (GRCm38)		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936 (GRCm38)		probably null	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,587 (GRCm38)		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709 (GRCm38)		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972 (GRCm38)		probably benign	Het
Pik3c2g	G	GGAGA	6: 139,635,658 (GRCm38)		probably null	Het
Pou3f1	GGCGGCCG	GGCGGCCGCGGCCG	4: 124,657,805 (GRCm38)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939 (GRCm38)		probably benign	Het
Reep1	CC	CCCGAC	6: 71,707,968 (GRCm38)		probably null	Het
Slc12a1	ACAAACC	ACAAACCTTTGGCCACCAAACC	2: 125,154,210 (GRCm38)		probably benign	Het
Smpx	CCCCCCA	C	X: 157,720,923 (GRCm38)		probably benign	Het
Spaca1	TCGC	TCGCTCACGC	4: 34,049,854 (GRCm38)		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,666 (GRCm38)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063 (GRCm38)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,616,074 (GRCm38)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	15: 78,967,036 (GRCm38)		probably benign	Het
Vat1l	C	T	8: 114,289,329 (GRCm38)	L320F	probably damaging	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092 (GRCm38)		probably benign	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
IGL03257:Igf1r	APN	7	68,214,940 (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
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

Predicted Primers

PCR Primer
(F):5'- TCTGGGCAAGATACATGGCAG -3'
(R):5'- CGTTCATGTGAGCGTAAGGC -3'

Sequencing Primer
(F):5'- AGTGCAGAGGTGGTACAGTTC -3'
(R):5'- AGGCTGTCTCTCATCAAAACTGG -3'

Posted On

2019-12-04