Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:BC051142'

549301

Institutional Source

Beutler Lab

Gene Symbol

BC051142

Ensembl Gene

ENSMUSG00000057246

Gene Name

cDNA sequence BC051142

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34398820-34460734 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34440882 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 93 (T93N)

Ref Sequence

ENSEMBL: ENSMUSP00000109812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078615] [ENSMUST00000097348] [ENSMUST00000114175] [ENSMUST00000139063] [ENSMUST00000142317] [ENSMUST00000223957]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078615
AA Change: T95N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: T95N

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	144	167	N/A	INTRINSIC
low complexity region	246	272	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC
low complexity region	364	391	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097348
AA Change: T107N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: T107N

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	151	174	N/A	INTRINSIC
low complexity region	253	279	N/A	INTRINSIC
low complexity region	335	345	N/A	INTRINSIC
low complexity region	371	398	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114175
AA Change: T93N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246
AA Change: T93N

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	142	165	N/A	INTRINSIC
SCOP:d1i7qa_	227	277	5e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000139063
AA Change: T130N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121839
Gene: ENSMUSG00000057246
AA Change: T130N

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142317

SMART Domains

Protein: ENSMUSP00000117413
Gene: ENSMUSG00000057246

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000223957
AA Change: T82N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably damaging	Het

Other mutations in BC051142

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:BC051142	APN	17	34420420	unclassified	probably benign
IGL01516:BC051142	APN	17	34449260	missense	possibly damaging	0.90
FR4304:BC051142	UTSW	17	34460055	unclassified	probably benign
FR4304:BC051142	UTSW	17	34460077	unclassified	probably benign
FR4340:BC051142	UTSW	17	34460060	nonsense	probably null
FR4340:BC051142	UTSW	17	34460068	unclassified	probably benign
FR4340:BC051142	UTSW	17	34460077	unclassified	probably benign
FR4548:BC051142	UTSW	17	34460065	unclassified	probably benign
FR4589:BC051142	UTSW	17	34460053	unclassified	probably benign
FR4589:BC051142	UTSW	17	34460073	unclassified	probably benign
FR4737:BC051142	UTSW	17	34460051	unclassified	probably benign
FR4737:BC051142	UTSW	17	34460068	unclassified	probably benign
FR4976:BC051142	UTSW	17	34460058	unclassified	probably benign
FR4976:BC051142	UTSW	17	34460061	unclassified	probably benign
R0046:BC051142	UTSW	17	34460121	critical splice donor site	probably null
R0046:BC051142	UTSW	17	34460121	critical splice donor site	probably null
R0523:BC051142	UTSW	17	34445499	critical splice donor site	probably null
R0661:BC051142	UTSW	17	34459913	missense	possibly damaging	0.90
R2224:BC051142	UTSW	17	34448763	splice site	probably null
R2937:BC051142	UTSW	17	34421862	missense	possibly damaging	0.92
R3932:BC051142	UTSW	17	34443443	missense	possibly damaging	0.94
R4210:BC051142	UTSW	17	34460283	unclassified	probably benign
R4924:BC051142	UTSW	17	34459977	missense	probably damaging	0.96
R5055:BC051142	UTSW	17	34448796	missense	possibly damaging	0.83
R5446:BC051142	UTSW	17	34440893	splice site	probably null
R6147:BC051142	UTSW	17	34418923	missense	possibly damaging	0.95
R6851:BC051142	UTSW	17	34460172	missense	possibly damaging	0.66
R6866:BC051142	UTSW	17	34459961	missense	possibly damaging	0.66
R7035:BC051142	UTSW	17	34460331	unclassified	probably benign
R7468:BC051142	UTSW	17	34417565	splice site	probably null
R7556:BC051142	UTSW	17	34437717	missense	unknown
R7843:BC051142	UTSW	17	34449824	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGGGCAAAGGTCTTTTCCCTG -3'
(R):5'- GCTGGATAAGGACTAGTGGGTC -3'

Sequencing Primer
(F):5'- AAAGGTCTTTTCCCTGCCTGAG -3'
(R):5'- GGGTTCCACTGCCATAGTTAATATC -3'

Posted On

2019-05-15