Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Reg3a'

285708

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: 0.047) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

78357692-78360810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78359224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 75 (H75Y)

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

possibly damaging
Transcript: ENSMUST00000101272
AA Change: H75Y

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098829
Gene: ENSMUSG00000079516
AA Change: H75Y

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	T	A	16: 52,094,413 (GRCm39)		probably benign	Het
Alox15	A	C	11: 70,240,382 (GRCm39)	D266E	probably benign	Het
Atcay	A	T	10: 81,046,382 (GRCm39)	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,683,455 (GRCm39)	G758R	possibly damaging	Het
Bltp2	G	A	11: 78,170,722 (GRCm39)	G1647D	probably benign	Het
Cacna2d4	T	A	6: 119,254,869 (GRCm39)		probably benign	Het
Celsr3	T	C	9: 108,719,709 (GRCm39)	V2429A	probably damaging	Het
Clspn	T	G	4: 126,453,021 (GRCm39)	D11E	probably damaging	Het
Cnot3	A	G	7: 3,661,209 (GRCm39)	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Edem1	A	G	6: 108,805,849 (GRCm39)	D50G	probably benign	Het
Emilin3	G	A	2: 160,750,435 (GRCm39)	T438I	probably damaging	Het
Etfdh	C	T	3: 79,525,700 (GRCm39)	V173I	probably damaging	Het
Fat2	T	C	11: 55,171,918 (GRCm39)	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,292,469 (GRCm39)	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,292,470 (GRCm39)	E154V	probably damaging	Het
G3bp1	T	A	11: 55,386,273 (GRCm39)	L244*	probably null	Het
Itgae	A	T	11: 72,981,448 (GRCm39)	K2M	possibly damaging	Het
Kcnq2	T	C	2: 180,723,508 (GRCm39)	I654V	probably benign	Het
Ksr2	C	T	5: 117,638,841 (GRCm39)	R82C	probably damaging	Het
Lrig3	A	T	10: 125,833,041 (GRCm39)	D305V	probably damaging	Het
Me1	T	C	9: 86,493,908 (GRCm39)	K322E	possibly damaging	Het
Med12l	T	A	3: 59,153,303 (GRCm39)	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,772 (GRCm39)	K73E	possibly damaging	Het
Nup155	T	G	15: 8,173,548 (GRCm39)	L881R	probably damaging	Het
Ocln	A	T	13: 100,677,622 (GRCm39)	S2T	probably damaging	Het
Oosp3	T	C	19: 11,676,803 (GRCm39)	L54S	probably damaging	Het
Pkp3	G	A	7: 140,664,151 (GRCm39)	E443K	probably damaging	Het
Plk2	T	A	13: 110,536,603 (GRCm39)	C632S	probably benign	Het
Ptk6	C	T	2: 180,838,794 (GRCm39)	V320I	probably damaging	Het
Ptprt	A	T	2: 162,079,980 (GRCm39)	I273N	probably damaging	Het
Ptprt	A	G	2: 162,119,966 (GRCm39)		probably null	Het
Rab3gap2	T	C	1: 184,999,095 (GRCm39)		probably benign	Het
Rabgef1	G	A	5: 130,240,816 (GRCm39)	A312T	probably damaging	Het
Rabl6	T	A	2: 25,488,196 (GRCm39)	K109N	probably benign	Het
Rbp7	C	T	4: 149,539,334 (GRCm39)		probably null	Het
Rnf123	G	T	9: 107,943,598 (GRCm39)	P546T	probably benign	Het
Rnmt	C	A	18: 68,447,152 (GRCm39)	C345*	probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,252,236 (GRCm39)	S25N	possibly damaging	Het
Spata16	G	T	3: 26,967,413 (GRCm39)	G388W	probably damaging	Het
Speg	C	T	1: 75,400,031 (GRCm39)	R2493W	probably damaging	Het
Thada	T	A	17: 84,736,125 (GRCm39)	D970V	probably damaging	Het
Tmem184c	A	G	8: 78,331,441 (GRCm39)	Y103H	probably damaging	Het
Ttn	A	T	2: 76,628,440 (GRCm39)	D12827E	probably damaging	Het
Utp20	A	G	10: 88,627,030 (GRCm39)	L976S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp936	T	A	7: 42,836,909 (GRCm39)		probably null	Het

Other mutations in Reg3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Reg3a	APN	6	78,359,284 (GRCm39)	nonsense	probably null
IGL01107:Reg3a	APN	6	78,360,228 (GRCm39)	missense	probably benign	0.13
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

2015-04-16