Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00978:Reg3a'

27709

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Reg3a

Ensembl Gene

ENSMUSG00000079516

Gene Name

regenerating islet-derived 3 alpha

Synonyms

RegIII (alpha)

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

78357692-78360810 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 78359284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 95 (R95*)

Ref Sequence

ENSEMBL: ENSMUSP00000098829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089667] [ENSMUST00000101272] [ENSMUST00000167492] [ENSMUST00000205240]

AlphaFold

O09037

Predicted Effect

probably benign
Transcript: ENSMUST00000089667

SMART Domains

Protein: ENSMUSP00000087096
Gene: ENSMUSG00000068341

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	172	6.99e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000101272
AA Change: R95*

SMART Domains

Protein: ENSMUSP00000098829
Gene: ENSMUSG00000079516
AA Change: R95*

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	172	8.66e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167492

SMART Domains

Protein: ENSMUSP00000132220
Gene: ENSMUSG00000068341

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	126	1.66e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205240

SMART Domains

Protein: ENSMUSP00000144715
Gene: ENSMUSG00000068341

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CLECT	40	126	1.66e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,241,773 (GRCm39)		probably benign	Het
Alpk2	A	T	18: 65,424,605 (GRCm39)		probably benign	Het
Angptl8	T	C	9: 21,748,349 (GRCm39)		probably benign	Het
AU040320	T	A	4: 126,722,632 (GRCm39)	D383E	probably benign	Het
Cep97	C	T	16: 55,745,323 (GRCm39)		probably benign	Het
Clcn4	A	T	7: 7,290,672 (GRCm39)	L649H	probably damaging	Het
Col5a2	T	C	1: 45,415,899 (GRCm39)	N1416S	probably benign	Het
Erbb2	C	T	11: 98,326,456 (GRCm39)	P1027S	probably damaging	Het
Eya1	A	G	1: 14,340,925 (GRCm39)		probably benign	Het
Gfm2	T	C	13: 97,299,485 (GRCm39)	I402T	probably benign	Het
Gmeb2	A	T	2: 180,900,836 (GRCm39)	V187E	probably benign	Het
Hectd1	T	C	12: 51,838,173 (GRCm39)	H662R	possibly damaging	Het
Ifne	T	C	4: 88,798,268 (GRCm39)	Q50R	probably benign	Het
Kidins220	A	G	12: 25,107,473 (GRCm39)	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245 (GRCm39)	D146V	probably damaging	Het
Krt36	T	C	11: 99,993,774 (GRCm39)	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,601,188 (GRCm39)	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,804,047 (GRCm39)	H853L	probably benign	Het
Map3k5	G	A	10: 20,017,313 (GRCm39)	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,663,326 (GRCm39)	N148S	probably benign	Het
Mylk3	A	T	8: 86,082,155 (GRCm39)	L211*	probably null	Het
Nras	T	C	3: 102,966,232 (GRCm39)		probably benign	Het
Or2n1c	A	T	17: 38,519,873 (GRCm39)	I246F	probably damaging	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Os9	A	T	10: 126,956,378 (GRCm39)	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,151,228 (GRCm39)	D15G	possibly damaging	Het
Rnf17	C	T	14: 56,749,728 (GRCm39)	P1425S	probably damaging	Het
Smad2	T	C	18: 76,432,846 (GRCm39)		probably benign	Het
Ttll5	C	T	12: 85,980,256 (GRCm39)	Q76*	probably null	Het
Uri1	A	T	7: 37,696,156 (GRCm39)		probably benign	Het
Vmn2r102	G	T	17: 19,899,185 (GRCm39)		probably null	Het
Vmn2r70	T	G	7: 85,213,007 (GRCm39)	M467L	probably benign	Het
Zfp318	T	A	17: 46,724,652 (GRCm39)	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,204,855 (GRCm39)	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,200,824 (GRCm39)	H235R	possibly damaging	Het

Other mutations in Reg3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Reg3a	APN	6	78,360,228 (GRCm39)	missense	probably benign	0.13
IGL02231:Reg3a	APN	6	78,359,224 (GRCm39)	missense	possibly damaging	0.85
IGL03057:Reg3a	APN	6	78,358,939 (GRCm39)	missense	possibly damaging	0.86
R1778:Reg3a	UTSW	6	78,360,269 (GRCm39)	missense	probably benign	0.11
R2122:Reg3a	UTSW	6	78,358,119 (GRCm39)	missense	possibly damaging	0.73
R3110:Reg3a	UTSW	6	78,358,114 (GRCm39)	missense	probably damaging	0.99
R3112:Reg3a	UTSW	6	78,358,114 (GRCm39)	missense	probably damaging	0.99
R4011:Reg3a	UTSW	6	78,360,553 (GRCm39)	missense	probably damaging	0.99
R4868:Reg3a	UTSW	6	78,358,883 (GRCm39)	missense	probably damaging	0.96
R5339:Reg3a	UTSW	6	78,360,522 (GRCm39)	critical splice acceptor site	probably null
R6885:Reg3a	UTSW	6	78,358,038 (GRCm39)	splice site	probably null
R6994:Reg3a	UTSW	6	78,358,132 (GRCm39)	missense	probably benign	0.00
R7480:Reg3a	UTSW	6	78,359,330 (GRCm39)	missense	probably damaging	1.00
R7998:Reg3a	UTSW	6	78,358,132 (GRCm39)	missense	probably benign	0.00
R9659:Reg3a	UTSW	6	78,360,574 (GRCm39)	missense	possibly damaging	0.83

Posted On

2013-04-17