Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:Igdcc3'

184655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igdcc3

Ensembl Gene

ENSMUSG00000032394

Gene Name

immunoglobulin superfamily, DCC subclass, member 3

Synonyms

Punc, WI-14920, 2810401C09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

65048471-65093154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65091162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 648 (V648I)

Ref Sequence

ENSEMBL: ENSMUSP00000034961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034961] [ENSMUST00000217371]

AlphaFold

Q8BQC3

Predicted Effect

probably benign
Transcript: ENSMUST00000034961
AA Change: V648I

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034961
Gene: ENSMUSG00000032394
AA Change: V648I

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
IGc2	66	136	1.28e-10	SMART
IGc2	163	228	4.77e-10	SMART
IGc2	262	326	8.06e-8	SMART
IGc2	354	419	3.17e-15	SMART
FN3	436	519	1.2e-13	SMART
FN3	534	615	2.66e-6	SMART
transmembrane domain	631	653	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217135

Predicted Effect

probably benign
Transcript: ENSMUST00000217371
AA Change: V668I

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a gene trap mutation exhibit reduced performance on the rotarod, suggesting impaired cerebellar function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
C87436	A	G	6: 86,430,677 (GRCm39)	M366V	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,210,554 (GRCm39)	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,759,567 (GRCm39)	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or12d17	T	A	17: 37,777,340 (GRCm39)	I81N	possibly damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Os9	G	A	10: 126,932,160 (GRCm39)	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,497 (GRCm39)	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Slc37a2	A	G	9: 37,144,980 (GRCm39)	I454T	probably damaging	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Socs4	T	C	14: 47,527,650 (GRCm39)	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,462 (GRCm39)	T469A	probably benign	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	possibly damaging	Het

Other mutations in Igdcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Igdcc3	APN	9	65,089,301 (GRCm39)	missense	probably damaging	1.00
IGL01310:Igdcc3	APN	9	65,085,724 (GRCm39)	missense	probably damaging	0.98
IGL01545:Igdcc3	APN	9	65,087,355 (GRCm39)	missense	probably damaging	1.00
IGL01576:Igdcc3	APN	9	65,085,152 (GRCm39)	missense	probably damaging	1.00
IGL01909:Igdcc3	APN	9	65,051,819 (GRCm39)	missense	probably damaging	1.00
IGL02055:Igdcc3	APN	9	65,088,562 (GRCm39)	missense	possibly damaging	0.92
IGL02565:Igdcc3	APN	9	65,087,470 (GRCm39)	missense	probably damaging	1.00
R1776:Igdcc3	UTSW	9	65,090,034 (GRCm39)	nonsense	probably null
R4731:Igdcc3	UTSW	9	65,089,279 (GRCm39)	missense	probably damaging	1.00
R5413:Igdcc3	UTSW	9	65,084,797 (GRCm39)	missense	possibly damaging	0.61
R5487:Igdcc3	UTSW	9	65,088,866 (GRCm39)	missense	probably damaging	1.00
R5744:Igdcc3	UTSW	9	65,048,770 (GRCm39)	small deletion	probably benign
R6578:Igdcc3	UTSW	9	65,089,301 (GRCm39)	missense	probably damaging	1.00
R6867:Igdcc3	UTSW	9	65,090,320 (GRCm39)	missense	probably damaging	1.00
R6992:Igdcc3	UTSW	9	65,088,853 (GRCm39)	missense	probably damaging	1.00
R8880:Igdcc3	UTSW	9	65,088,550 (GRCm39)	missense	probably benign	0.20
R9619:Igdcc3	UTSW	9	65,092,552 (GRCm39)	missense	probably benign	0.40
R9682:Igdcc3	UTSW	9	65,091,332 (GRCm39)	missense	probably benign	0.03
R9718:Igdcc3	UTSW	9	65,090,280 (GRCm39)	critical splice acceptor site	probably null

Posted On

2014-05-07