Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01834:BC049715'

154894

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC049715

Ensembl Gene

ENSMUSG00000047515

Gene Name

cDNA sequence BC049715

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01834

Quality Score

Status

Chromosome

Chromosomal Location

136804624-136817660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136817489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 243 (Q243L)

Ref Sequence

ENSEMBL: ENSMUSP00000145015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052702] [ENSMUST00000163640] [ENSMUST00000203499] [ENSMUST00000204086]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052702
AA Change: Q243L

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
AA Change: Q243L

Domain	Start	End	E-Value	Type
Pfam:DUF4533	8	235	1.3e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163640
AA Change: Q243L

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133266
Gene: ENSMUSG00000047515
AA Change: Q243L

Domain	Start	End	E-Value	Type
Pfam:DUF4533	8	235	1.6e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203499
AA Change: Q243L

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
AA Change: Q243L

Domain	Start	End	E-Value	Type
Pfam:DUF4533	8	235	1.6e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204086

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	G	1: 58,348,183 (GRCm39)	I634V	possibly damaging	Het
Atp13a4	T	G	16: 29,234,595 (GRCm39)		probably benign	Het
C2cd6	G	A	1: 59,036,604 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,137,251 (GRCm39)		probably null	Het
Cd2ap	T	A	17: 43,137,252 (GRCm39)		probably null	Het
Cd86	G	A	16: 36,427,481 (GRCm39)	R283W	probably benign	Het
CK137956	T	A	4: 127,840,442 (GRCm39)	K421N	probably damaging	Het
Coro2b	G	A	9: 62,338,639 (GRCm39)	T193I	possibly damaging	Het
Dido1	G	A	2: 180,325,824 (GRCm39)		probably benign	Het
Fas	A	G	19: 34,296,003 (GRCm39)	T149A	probably benign	Het
Gbp4	T	A	5: 105,273,468 (GRCm39)	I121F	probably damaging	Het
Hes3	C	T	4: 152,371,557 (GRCm39)	A106T	probably damaging	Het
Hyal2	T	C	9: 107,448,105 (GRCm39)	Y253H	probably damaging	Het
Kcnt1	T	C	2: 25,802,731 (GRCm39)		probably null	Het
Klhl12	C	A	1: 134,417,158 (GRCm39)	R557S	probably damaging	Het
Kmt2c	T	C	5: 25,600,453 (GRCm39)	T315A	probably benign	Het
Mchr1	A	G	15: 81,122,066 (GRCm39)	Y272C	probably damaging	Het
Mroh7	T	C	4: 106,538,071 (GRCm39)	I1202V	probably benign	Het
Mrpl38	T	A	11: 116,026,140 (GRCm39)	K87*	probably null	Het
Msh6	A	G	17: 88,293,140 (GRCm39)	T632A	probably damaging	Het
Myo9b	C	A	8: 71,807,901 (GRCm39)	H1630Q	possibly damaging	Het
Myo9b	T	C	8: 71,808,962 (GRCm39)	I1767T	probably damaging	Het
Naprt	A	G	15: 75,765,648 (GRCm39)	F92S	probably damaging	Het
Nsd3	T	A	8: 26,130,668 (GRCm39)	I11N	probably damaging	Het
Or5ae1	A	G	7: 84,565,860 (GRCm39)	Y291C	probably damaging	Het
Otof	T	C	5: 30,556,564 (GRCm39)	T306A	probably damaging	Het
Pcdh18	A	G	3: 49,711,279 (GRCm39)	F12S	probably benign	Het
Pcdhb12	A	T	18: 37,570,692 (GRCm39)	N613Y	probably damaging	Het
Polr1a	T	C	6: 71,925,446 (GRCm39)	I731T	probably benign	Het
Ptprd	G	A	4: 76,046,832 (GRCm39)	T465I	probably damaging	Het
Rabgap1	A	G	2: 37,454,773 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,610,311 (GRCm39)	I607L	possibly damaging	Het
Slc39a9	G	A	12: 80,720,073 (GRCm39)		probably benign	Het
Srek1	C	A	13: 103,885,293 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,701,147 (GRCm39)	T377A	possibly damaging	Het
Sympk	G	T	7: 18,777,360 (GRCm39)	A537S	probably benign	Het
Tcf20	A	G	15: 82,739,898 (GRCm39)	S518P	probably damaging	Het
Ttc39d	A	G	17: 80,523,475 (GRCm39)	K45E	probably benign	Het
Vmn1r40	T	C	6: 89,691,554 (GRCm39)	F124L	possibly damaging	Het
Vmn2r69	A	G	7: 85,061,576 (GRCm39)	Y133H	probably damaging	Het
Vmn2r79	A	T	7: 86,686,354 (GRCm39)	E578D	probably benign	Het
Vwf	G	A	6: 125,567,133 (GRCm39)		probably benign	Het
Zbtb11	A	G	16: 55,811,371 (GRCm39)	N510D	probably benign	Het

Other mutations in BC049715

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:BC049715	APN	6	136,817,093 (GRCm39)	missense	possibly damaging	0.80
R0330:BC049715	UTSW	6	136,817,035 (GRCm39)	missense	possibly damaging	0.95
R0375:BC049715	UTSW	6	136,816,994 (GRCm39)	missense	probably benign	0.12
R0419:BC049715	UTSW	6	136,817,143 (GRCm39)	missense	possibly damaging	0.71
R1437:BC049715	UTSW	6	136,817,090 (GRCm39)	missense	probably damaging	0.99
R1734:BC049715	UTSW	6	136,817,306 (GRCm39)	missense	probably damaging	1.00
R1737:BC049715	UTSW	6	136,817,306 (GRCm39)	missense	probably damaging	1.00
R1738:BC049715	UTSW	6	136,817,306 (GRCm39)	missense	probably damaging	1.00
R2264:BC049715	UTSW	6	136,817,434 (GRCm39)	nonsense	probably null
R3004:BC049715	UTSW	6	136,816,790 (GRCm39)	missense	possibly damaging	0.80
R3937:BC049715	UTSW	6	136,817,453 (GRCm39)	missense	possibly damaging	0.93
R3938:BC049715	UTSW	6	136,817,453 (GRCm39)	missense	possibly damaging	0.93
R4459:BC049715	UTSW	6	136,817,050 (GRCm39)	missense	probably damaging	0.99
R4806:BC049715	UTSW	6	136,816,927 (GRCm39)	missense	possibly damaging	0.93
R5086:BC049715	UTSW	6	136,817,429 (GRCm39)	missense	probably damaging	1.00
R6280:BC049715	UTSW	6	136,817,229 (GRCm39)	nonsense	probably null
R7383:BC049715	UTSW	6	136,817,453 (GRCm39)	missense	probably damaging	0.98
R7554:BC049715	UTSW	6	136,817,295 (GRCm39)	missense	probably damaging	0.99
R8055:BC049715	UTSW	6	136,816,913 (GRCm39)	missense	possibly damaging	0.95
R8768:BC049715	UTSW	6	136,816,979 (GRCm39)	missense	possibly damaging	0.71

Posted On

2014-02-04