Mutagenetix > Incidental Mutation

Incidental Mutation 'R6318:Igf1r'

510278

Institutional Source

Beutler Lab

Gene Symbol

Igf1r

Ensembl Gene

ENSMUSG00000005533

Gene Name

insulin-like growth factor I receptor

Synonyms

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

MMRRC Submission

044473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67602575-67883416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67814981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 294 (D294G)

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
AA Change: D294G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: D294G

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: ENSMUST00000207621

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

99% (74/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,270,474 (GRCm39)	T13A	possibly damaging	Het
Abcg4	T	C	9: 44,186,645 (GRCm39)	T500A	probably benign	Het
Adcy4	T	A	14: 56,006,681 (GRCm39)	I1051F	probably damaging	Het
Adgrg6	A	T	10: 14,343,241 (GRCm39)	N235K	probably benign	Het
Aldh3a2	A	C	11: 61,153,245 (GRCm39)	Y160*	probably null	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Armt1	T	C	10: 4,400,859 (GRCm39)	M202T	probably benign	Het
Brd2	C	A	17: 34,331,872 (GRCm39)	V349F	probably damaging	Het
Btnl10	A	T	11: 58,817,691 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,253,591 (GRCm39)	V216A	possibly damaging	Het
Ccdc85c	A	T	12: 108,240,968 (GRCm39)	L142Q	unknown	Het
Cdc27	A	T	11: 104,419,520 (GRCm39)	S172T	probably damaging	Het
Ceacam14	T	C	7: 17,548,237 (GRCm39)	I109T	probably damaging	Het
Ces5a	C	T	8: 94,261,211 (GRCm39)	G72E	probably damaging	Het
Cfb	A	G	17: 35,080,800 (GRCm39)	Y66H	possibly damaging	Het
Clec14a	G	A	12: 58,315,001 (GRCm39)	P207L	probably damaging	Het
Clec16a	G	A	16: 10,448,652 (GRCm39)	R599H	probably damaging	Het
Csmd1	A	T	8: 15,953,212 (GRCm39)	I3423N	probably damaging	Het
Cyp4a29	C	A	4: 115,107,396 (GRCm39)	N243K	probably benign	Het
Ddx59	T	C	1: 136,344,610 (GRCm39)	F94L	probably damaging	Het
Dusp3	A	C	11: 101,877,697 (GRCm39)	V19G	probably benign	Het
Fat3	T	C	9: 15,828,280 (GRCm39)		probably benign	Het
Fgfr4	T	A	13: 55,313,921 (GRCm39)	V545E	probably damaging	Het
Fxn	G	T	19: 24,257,790 (GRCm39)	A47D	probably damaging	Het
Gdpgp1	A	T	7: 79,888,898 (GRCm39)	I310F	possibly damaging	Het
Gm7210	A	T	7: 11,328,040 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 111,335,836 (GRCm39)	C749F	probably damaging	Het
Hps4	T	G	5: 112,494,495 (GRCm39)	V26G	probably damaging	Het
Immp1l	T	C	2: 105,761,172 (GRCm39)	F27S	probably benign	Het
Kcnk3	T	A	5: 30,779,930 (GRCm39)	C327S	probably damaging	Het
Kif13a	T	A	13: 46,968,683 (GRCm39)		probably null	Het
Krtap5-4	T	C	7: 141,857,827 (GRCm39)	S166P	unknown	Het
Lyst	G	A	13: 13,917,896 (GRCm39)	D3319N	possibly damaging	Het
Malrd1	T	G	2: 16,047,078 (GRCm39)	S1735A	unknown	Het
Myh4	A	G	11: 67,134,268 (GRCm39)	T308A	probably benign	Het
Myh8	A	T	11: 67,190,167 (GRCm39)	Q1269L	probably benign	Het
Myo15b	G	A	11: 115,781,657 (GRCm39)	V1367I	probably damaging	Het
Nae1	T	C	8: 105,250,269 (GRCm39)	D208G	probably benign	Het
Nelfe	T	A	17: 35,073,432 (GRCm39)	V296D	probably damaging	Het
Nkapd1	T	C	9: 50,518,761 (GRCm39)	R284G	probably benign	Het
Npepps	A	T	11: 97,109,374 (GRCm39)	V734E	probably damaging	Het
Ogdh	A	G	11: 6,299,390 (GRCm39)	N752S	probably damaging	Het
Or11i1	T	C	3: 106,729,503 (GRCm39)	D124G	probably damaging	Het
Or3a1b	A	T	11: 74,012,547 (GRCm39)	Q144L	possibly damaging	Het
Or5t9	A	G	2: 86,659,998 (GRCm39)	I301V	possibly damaging	Het
Or8b1	T	C	9: 38,399,673 (GRCm39)	M116T	probably benign	Het
Otof	C	A	5: 30,571,888 (GRCm39)	G171V	probably damaging	Het
Phtf2	A	T	5: 21,006,939 (GRCm39)	V208D	probably damaging	Het
Pkn1	T	A	8: 84,410,220 (GRCm39)	T340S	probably damaging	Het
Plcd4	C	T	1: 74,602,753 (GRCm39)	L668F	possibly damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prss50	A	T	9: 110,690,367 (GRCm39)	D170V	probably damaging	Het
Ptprg	T	C	14: 12,237,118 (GRCm38)	V604A	probably damaging	Het
Rab33b	T	C	3: 51,400,826 (GRCm39)	V100A	probably damaging	Het
Rbm26	T	A	14: 105,368,971 (GRCm39)	D736V	probably damaging	Het
Rela	C	A	19: 5,696,992 (GRCm39)	P400T	probably benign	Het
Rpusd4	T	C	9: 35,179,334 (GRCm39)	L50P	probably damaging	Het
Scn10a	A	C	9: 119,456,181 (GRCm39)	Y1214D	probably damaging	Het
Sema3c	A	G	5: 17,877,430 (GRCm39)	E179G	probably damaging	Het
Skint5	T	A	4: 113,374,330 (GRCm39)	D1253V	unknown	Het
Sp4	G	T	12: 118,201,913 (GRCm39)	P771H	probably damaging	Het
Sphkap	T	A	1: 83,256,099 (GRCm39)	Y263F	probably damaging	Het
Ssbp1	G	A	6: 40,453,687 (GRCm39)	V78I	probably benign	Het
St3gal6	A	G	16: 58,306,769 (GRCm39)	I87T	probably benign	Het
Tango6	T	A	8: 107,545,129 (GRCm39)	D997E	probably benign	Het
Tpr	C	T	1: 150,321,639 (GRCm39)	P2265S	possibly damaging	Het
Ttc7b	A	T	12: 100,291,936 (GRCm39)	F212Y	probably damaging	Het
Ubc	A	G	5: 125,465,324 (GRCm39)	M1T	probably null	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Yes1	T	C	5: 32,809,030 (GRCm39)	I132T	possibly damaging	Het
Ythdc2	A	G	18: 44,993,444 (GRCm39)	T830A	probably benign	Het
Zbtb41	T	A	1: 139,358,044 (GRCm39)	F451I	possibly damaging	Het
Zfp995	C	T	17: 22,099,493 (GRCm39)	C247Y	probably benign	Het

Other mutations in Igf1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Igf1r	APN	7	67,839,771 (GRCm39)	missense	probably benign
IGL00837:Igf1r	APN	7	67,851,100 (GRCm39)	splice site	probably benign
IGL01515:Igf1r	APN	7	67,857,200 (GRCm39)	missense	probably damaging	1.00
IGL01572:Igf1r	APN	7	67,843,189 (GRCm39)	missense	probably benign	0.01
IGL02100:Igf1r	APN	7	67,839,706 (GRCm39)	missense	probably benign	0.05
IGL02506:Igf1r	APN	7	67,843,144 (GRCm39)	missense	probably benign
IGL02672:Igf1r	APN	7	67,839,781 (GRCm39)	missense	probably benign	0.05
IGL02701:Igf1r	APN	7	67,850,997 (GRCm39)	missense	possibly damaging	0.93
IGL02742:Igf1r	APN	7	67,839,739 (GRCm39)	missense	possibly damaging	0.94
IGL03073:Igf1r	APN	7	67,864,791 (GRCm39)	missense	probably damaging	1.00
IGL03257:Igf1r	APN	7	67,864,688 (GRCm39)	missense	probably damaging	1.00
Frufru	UTSW	7	67,653,911 (GRCm39)	missense	probably damaging	1.00
Hungarian	UTSW	7	67,864,745 (GRCm39)	missense	probably damaging	1.00
Mimi	UTSW	7	67,844,774 (GRCm39)	missense	possibly damaging	0.67
Piroshka	UTSW	7	67,857,084 (GRCm39)	nonsense	probably null
Romanian	UTSW	7	67,653,885 (GRCm39)	missense	possibly damaging	0.94
Sublime	UTSW	7	67,653,927 (GRCm39)	missense	probably damaging	1.00
Toy	UTSW	7	67,653,720 (GRCm39)	missense	probably damaging	1.00
BB009:Igf1r	UTSW	7	67,861,802 (GRCm39)	missense	possibly damaging	0.88
BB019:Igf1r	UTSW	7	67,861,802 (GRCm39)	missense	possibly damaging	0.88
FR4548:Igf1r	UTSW	7	67,875,934 (GRCm39)	small insertion	probably benign
FR4737:Igf1r	UTSW	7	67,875,929 (GRCm39)	small insertion	probably benign
FR4976:Igf1r	UTSW	7	67,875,934 (GRCm39)	small insertion	probably benign
FR4976:Igf1r	UTSW	7	67,875,929 (GRCm39)	small insertion	probably benign
PIT4445001:Igf1r	UTSW	7	67,857,211 (GRCm39)	missense	probably damaging	1.00
R0003:Igf1r	UTSW	7	67,814,990 (GRCm39)	missense	probably damaging	1.00
R0184:Igf1r	UTSW	7	67,875,941 (GRCm39)	missense	possibly damaging	0.84
R0538:Igf1r	UTSW	7	67,857,574 (GRCm39)	missense	probably damaging	1.00
R0632:Igf1r	UTSW	7	67,814,903 (GRCm39)	missense	probably damaging	1.00
R0727:Igf1r	UTSW	7	67,861,906 (GRCm39)	critical splice donor site	probably null
R0750:Igf1r	UTSW	7	67,861,839 (GRCm39)	missense	probably damaging	0.99
R1104:Igf1r	UTSW	7	67,844,774 (GRCm39)	missense	possibly damaging	0.67
R1169:Igf1r	UTSW	7	67,814,875 (GRCm39)	missense	probably benign	0.00
R1348:Igf1r	UTSW	7	67,868,216 (GRCm39)	missense	probably damaging	1.00
R1471:Igf1r	UTSW	7	67,653,585 (GRCm39)	missense	probably damaging	0.98
R1580:Igf1r	UTSW	7	67,857,617 (GRCm39)	missense	probably benign
R1745:Igf1r	UTSW	7	67,819,661 (GRCm39)	missense	probably damaging	1.00
R1772:Igf1r	UTSW	7	67,844,822 (GRCm39)	missense	probably benign	0.03
R1789:Igf1r	UTSW	7	67,864,681 (GRCm39)	nonsense	probably null
R1823:Igf1r	UTSW	7	67,844,729 (GRCm39)	missense	possibly damaging	0.77
R1902:Igf1r	UTSW	7	67,850,997 (GRCm39)	missense	possibly damaging	0.93
R1962:Igf1r	UTSW	7	67,857,023 (GRCm39)	missense	probably damaging	0.99
R2179:Igf1r	UTSW	7	67,653,698 (GRCm39)	missense	probably damaging	0.99
R2215:Igf1r	UTSW	7	67,814,982 (GRCm39)	missense	probably benign
R2221:Igf1r	UTSW	7	67,851,710 (GRCm39)	missense	probably damaging	1.00
R2233:Igf1r	UTSW	7	67,861,828 (GRCm39)	missense	probably damaging	1.00
R2234:Igf1r	UTSW	7	67,861,828 (GRCm39)	missense	probably damaging	1.00
R2235:Igf1r	UTSW	7	67,861,828 (GRCm39)	missense	probably damaging	1.00
R3023:Igf1r	UTSW	7	67,833,147 (GRCm39)	missense	probably benign	0.00
R4044:Igf1r	UTSW	7	67,839,810 (GRCm39)	missense	possibly damaging	0.83
R4226:Igf1r	UTSW	7	67,844,826 (GRCm39)	nonsense	probably null
R4387:Igf1r	UTSW	7	67,819,757 (GRCm39)	missense	probably benign
R4388:Igf1r	UTSW	7	67,819,757 (GRCm39)	missense	probably benign
R4728:Igf1r	UTSW	7	67,839,372 (GRCm39)	missense	probably damaging	1.00
R4781:Igf1r	UTSW	7	67,814,947 (GRCm39)	missense	possibly damaging	0.75
R5254:Igf1r	UTSW	7	67,857,067 (GRCm39)	missense	probably damaging	0.99
R5278:Igf1r	UTSW	7	67,843,166 (GRCm39)	missense	possibly damaging	0.78
R5510:Igf1r	UTSW	7	67,843,107 (GRCm39)	missense	probably benign	0.19
R5522:Igf1r	UTSW	7	67,833,258 (GRCm39)	missense	probably damaging	0.96
R5527:Igf1r	UTSW	7	67,857,569 (GRCm39)	missense	probably damaging	1.00
R5761:Igf1r	UTSW	7	67,857,001 (GRCm39)	missense	probably damaging	1.00
R5849:Igf1r	UTSW	7	67,839,781 (GRCm39)	missense	probably benign
R6189:Igf1r	UTSW	7	67,857,084 (GRCm39)	nonsense	probably null
R6262:Igf1r	UTSW	7	67,653,720 (GRCm39)	missense	probably damaging	1.00
R6285:Igf1r	UTSW	7	67,653,885 (GRCm39)	missense	possibly damaging	0.94
R6365:Igf1r	UTSW	7	67,839,798 (GRCm39)	missense	probably benign	0.26
R6377:Igf1r	UTSW	7	67,850,998 (GRCm39)	missense	probably benign	0.00
R6831:Igf1r	UTSW	7	67,857,067 (GRCm39)	missense	possibly damaging	0.75
R6848:Igf1r	UTSW	7	67,653,927 (GRCm39)	missense	probably damaging	1.00
R6902:Igf1r	UTSW	7	67,653,911 (GRCm39)	missense	probably damaging	1.00
R7193:Igf1r	UTSW	7	67,836,905 (GRCm39)	missense	probably damaging	1.00
R7373:Igf1r	UTSW	7	67,844,826 (GRCm39)	nonsense	probably null
R7442:Igf1r	UTSW	7	67,823,026 (GRCm39)	missense	probably damaging	1.00
R7903:Igf1r	UTSW	7	67,834,500 (GRCm39)	missense	probably damaging	1.00
R7923:Igf1r	UTSW	7	67,839,849 (GRCm39)	missense	probably damaging	1.00
R7932:Igf1r	UTSW	7	67,861,802 (GRCm39)	missense	possibly damaging	0.88
R8368:Igf1r	UTSW	7	67,836,796 (GRCm39)	missense	probably benign	0.03
R8458:Igf1r	UTSW	7	67,845,377 (GRCm39)	missense	probably benign
R8539:Igf1r	UTSW	7	67,653,596 (GRCm39)	missense	probably benign	0.06
R8704:Igf1r	UTSW	7	67,819,802 (GRCm39)	splice site	probably benign
R8746:Igf1r	UTSW	7	67,864,745 (GRCm39)	missense	probably damaging	1.00
R8829:Igf1r	UTSW	7	67,875,769 (GRCm39)	missense	probably damaging	1.00
R8832:Igf1r	UTSW	7	67,875,769 (GRCm39)	missense	probably damaging	1.00
R8859:Igf1r	UTSW	7	67,833,211 (GRCm39)	missense	possibly damaging	0.75
R9057:Igf1r	UTSW	7	67,833,186 (GRCm39)	missense	probably damaging	1.00
R9243:Igf1r	UTSW	7	67,861,775 (GRCm39)	missense	probably benign	0.11
R9342:Igf1r	UTSW	7	67,844,746 (GRCm39)	missense	probably benign	0.00
R9412:Igf1r	UTSW	7	67,857,001 (GRCm39)	missense	probably damaging	1.00
R9525:Igf1r	UTSW	7	67,864,682 (GRCm39)	missense	probably damaging	1.00
R9727:Igf1r	UTSW	7	67,857,554 (GRCm39)	missense	probably damaging	1.00
R9730:Igf1r	UTSW	7	67,839,423 (GRCm39)	missense	probably damaging	1.00
R9779:Igf1r	UTSW	7	67,654,065 (GRCm39)	missense	probably damaging	1.00
RF025:Igf1r	UTSW	7	67,875,927 (GRCm39)	small insertion	probably benign
RF032:Igf1r	UTSW	7	67,875,927 (GRCm39)	small insertion	probably benign
RF034:Igf1r	UTSW	7	67,875,924 (GRCm39)	small insertion	probably benign
RF037:Igf1r	UTSW	7	67,875,924 (GRCm39)	small insertion	probably benign
RF039:Igf1r	UTSW	7	67,875,924 (GRCm39)	small insertion	probably benign
RF044:Igf1r	UTSW	7	67,875,927 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,916 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,930 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,928 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,922 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,917 (GRCm39)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	67,875,918 (GRCm39)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	67,875,917 (GRCm39)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	67,875,921 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAACAACGAGTGCTGCCAC -3'
(R):5'- GATTCGCATTAAAACAAGCTCAGCC -3'

Sequencing Primer
(F):5'- AGTGCTGCCACCCGGAG -3'
(R):5'- AGCTCAGCCATCACCCTCTG -3'

Posted On

2018-04-02