Mutagenetix > Incidental Mutation

Incidental Mutation 'R6867:Igdcc3'

535981

Institutional Source

Beutler Lab

Gene Symbol

Igdcc3

Ensembl Gene

ENSMUSG00000032394

Gene Name

immunoglobulin superfamily, DCC subclass, member 3

Synonyms

Punc, WI-14920, 2810401C09Rik

MMRRC Submission

045028-MU

Accession Numbers

Essential gene?

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

Stock #

R6867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65048471-65093154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65090320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 610 (N610D)

Ref Sequence

ENSEMBL: ENSMUSP00000034961 (fasta)

Gene Model

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

AlphaFold

Q8BQC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000034961
AA Change: N610D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034961
Gene: ENSMUSG00000032394
AA Change: N610D

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

probably damaging
Transcript: ENSMUST00000217371
AA Change: N610D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apold1	T	C	6: 134,961,019 (GRCm39)	S158P	possibly damaging	Het
Cep162	A	T	9: 87,099,134 (GRCm39)	L788*	probably null	Het
Cyp7b1	T	C	3: 18,151,394 (GRCm39)	Y273C	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dock10	A	T	1: 80,508,976 (GRCm39)	I1605K	probably damaging	Het
Enox1	T	C	14: 77,936,739 (GRCm39)		probably null	Het
F3	T	C	3: 121,523,020 (GRCm39)	S77P	possibly damaging	Het
Fam186a	T	A	15: 99,843,731 (GRCm39)	I838L	unknown	Het
Flrt2	T	C	12: 95,746,156 (GRCm39)	F165L	probably damaging	Het
Gcgr	T	A	11: 120,427,295 (GRCm39)	V135E	possibly damaging	Het
Gm6741	T	C	17: 91,544,339 (GRCm39)	L34P	probably benign	Het
Gna13	T	C	11: 109,286,948 (GRCm39)	M257T	possibly damaging	Het
Hsd11b2	G	A	8: 106,248,949 (GRCm39)	R147H	probably benign	Het
Hydin	A	G	8: 111,266,434 (GRCm39)	Y2865C	probably benign	Het
Ipp	T	A	4: 116,367,606 (GRCm39)		probably null	Het
Kdm5d	A	G	Y: 927,425 (GRCm39)	T682A	probably benign	Het
Megf8	A	G	7: 25,030,460 (GRCm39)	Y471C	probably benign	Het
Mprip	T	C	11: 59,640,456 (GRCm39)		probably null	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myrfl	T	A	10: 116,684,187 (GRCm39)	R179*	probably null	Het
Nek1	C	A	8: 61,525,364 (GRCm39)	Q601K	possibly damaging	Het
Neurod4	C	G	10: 130,106,583 (GRCm39)	K230N	probably damaging	Het
Or1ab2	C	T	8: 72,863,707 (GRCm39)	T99I	possibly damaging	Het
Or8u10	A	G	2: 85,916,082 (GRCm39)	I13T	possibly damaging	Het
Orc3	A	G	4: 34,605,539 (GRCm39)	L114P	probably damaging	Het
Rag1	T	C	2: 101,472,292 (GRCm39)	D950G	probably damaging	Het
Rasgrp2	G	A	19: 6,463,213 (GRCm39)	S504N	probably benign	Het
Rgl2	A	G	17: 34,151,661 (GRCm39)	D235G	probably benign	Het
Slc35e2	A	G	4: 155,703,157 (GRCm39)	E390G	probably benign	Het
Slc39a1	T	A	3: 90,156,759 (GRCm39)	V105E	probably damaging	Het
Tesk2	T	A	4: 116,658,995 (GRCm39)	C291S	probably damaging	Het
Tmco3	T	A	8: 13,363,927 (GRCm39)	F83Y	probably damaging	Het
Trim25	T	C	11: 88,901,713 (GRCm39)	I336T	probably benign	Het
Ush2a	A	G	1: 188,643,170 (GRCm39)	I4177M	probably damaging	Het
Veph1	T	A	3: 66,162,458 (GRCm39)	T67S	probably damaging	Het
Vmn2r43	A	G	7: 8,258,125 (GRCm39)	F363L	probably benign	Het
Vps28	A	T	15: 76,506,871 (GRCm39)	I109N	probably damaging	Het
Vps50	A	G	6: 3,517,835 (GRCm39)	D91G	probably benign	Het
Wdr20	T	C	12: 110,760,133 (GRCm39)	F340L	probably benign	Het
Wdr95	A	G	5: 149,504,388 (GRCm39)		probably null	Het
Zfand6	A	G	7: 84,265,122 (GRCm39)	V193A	probably damaging	Het
Zfp703	C	A	8: 27,468,668 (GRCm39)	P111T	probably 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
IGL02039:Igdcc3	APN	9	65,091,162 (GRCm39)	missense	probably benign	0.18
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCTGTTTTACCGCCCAGTC -3'
(R):5'- GCCTGAGGCTACAGATACTG -3'

Sequencing Primer
(F):5'- AGTGCAACCTCCTTCACTGG -3'
(R):5'- TGAGGCTACAGATACTGTCCTC -3'

Posted On

2018-10-18