Mutagenetix > Incidental Mutation

Incidental Mutation 'R5242:BC048679'

400916

Institutional Source

Beutler Lab

Gene Symbol

BC048679

Ensembl Gene

ENSMUSG00000061877

Gene Name

cDNA sequence BC048679

Synonyms

MMRRC Submission

042813-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5242 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81144023-81148029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81145091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 84 (T84M)

Ref Sequence

ENSEMBL: ENSMUSP00000147131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073406] [ENSMUST00000082090] [ENSMUST00000144156] [ENSMUST00000152355] [ENSMUST00000207871]

AlphaFold

D3YXE9

Predicted Effect

probably benign
Transcript: ENSMUST00000073406

SMART Domains

Protein: ENSMUSP00000073114
Gene: ENSMUSG00000061877

Domain	Start	End	E-Value	Type
Pfam:NLPC_P60	3	101	6.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082090

SMART Domains

Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	34	590	8.2e-182	PFAM
low complexity region	689	782	N/A	INTRINSIC
AP3B1_C	801	947	4.58e-75	SMART
Blast:B2	971	1080	2e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119121

SMART Domains

Protein: ENSMUSP00000114032
Gene: ENSMUSG00000062444

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	34	122	5.6e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144156
AA Change: T90M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120616
Gene: ENSMUSG00000061877
AA Change: T90M

Domain	Start	End	E-Value	Type
low complexity region	108	123	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152355

Predicted Effect

probably damaging
Transcript: ENSMUST00000207871
AA Change: T84M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208911

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	C	8: 84,657,711 (GRCm39)	V439A	possibly damaging	Het
Aldh6a1	A	G	12: 84,483,157 (GRCm39)	V390A	probably damaging	Het
Alox5	T	C	6: 116,437,927 (GRCm39)	D20G	probably damaging	Het
Atp2a2	A	T	5: 122,600,009 (GRCm39)	F487I	probably damaging	Het
C2cd3	T	C	7: 100,039,373 (GRCm39)	S191P	probably benign	Het
Cdh6	A	G	15: 13,064,497 (GRCm39)	V131A	probably benign	Het
Chrna9	A	G	5: 66,134,423 (GRCm39)	T425A	probably benign	Het
Cplane2	T	C	4: 140,947,158 (GRCm39)	Y180H	probably damaging	Het
Ddx39a	A	G	8: 84,448,440 (GRCm39)	S231G	probably benign	Het
Diaph1	C	T	18: 37,984,688 (GRCm39)	G1176R	probably damaging	Het
Dnah10	G	T	5: 124,864,484 (GRCm39)	V2230L	probably benign	Het
Foxo1	T	C	3: 52,176,676 (GRCm39)	S152P	probably damaging	Het
Fras1	T	A	5: 96,805,109 (GRCm39)	D1250E	probably benign	Het
G6pd2	A	G	5: 61,966,785 (GRCm39)	I187V	probably benign	Het
Gm10113	T	C	13: 46,330,992 (GRCm39)		noncoding transcript	Het
Hoxd1	A	G	2: 74,593,792 (GRCm39)	D116G	probably damaging	Het
Igkv13-85	A	T	6: 68,907,544 (GRCm39)	I19K	probably benign	Het
Jag2	C	T	12: 112,880,486 (GRCm39)	V288M	probably damaging	Het
Ndrg2	A	G	14: 52,148,541 (GRCm39)		probably null	Het
Neurl3	G	A	1: 36,308,501 (GRCm39)	Q104*	probably null	Het
Nudt16l1	C	T	16: 4,757,485 (GRCm39)	R133W	probably damaging	Het
Oasl2	A	T	5: 115,043,122 (GRCm39)	Q298L	possibly damaging	Het
Or3a10	A	T	11: 73,935,848 (GRCm39)	M84K	possibly damaging	Het
Or51a25	C	T	7: 102,373,483 (GRCm39)	M71I	probably benign	Het
Pnma2	C	A	14: 67,153,746 (GRCm39)	Q57K	probably benign	Het
Pramel22	A	T	4: 143,382,181 (GRCm39)	L172I	probably benign	Het
Rps7	T	A	12: 28,681,136 (GRCm39)	E188D	probably benign	Het
Rrp1b	T	C	17: 32,270,677 (GRCm39)	V212A	possibly damaging	Het
Serpina9	C	A	12: 103,974,644 (GRCm39)	A170S	probably benign	Het
Shmt2	C	T	10: 127,354,789 (GRCm39)	V299I	probably benign	Het
Siae	C	T	9: 37,556,148 (GRCm39)	P435S	probably damaging	Het
Smarcal1	T	C	1: 72,630,242 (GRCm39)	S99P	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Stimate	T	A	14: 30,547,793 (GRCm39)	F36I	probably damaging	Het
Tas2r124	T	C	6: 132,732,503 (GRCm39)	Y271H	possibly damaging	Het
Thsd7a	A	T	6: 12,327,582 (GRCm39)	I1430K	probably damaging	Het
Trmt9b	A	G	8: 36,979,084 (GRCm39)	K229R	probably benign	Het
Tsc22d2	T	A	3: 58,323,360 (GRCm39)	V84E	possibly damaging	Het
Ube2s	C	T	7: 4,813,434 (GRCm39)	R110Q	possibly damaging	Het
Usp3	C	T	9: 66,434,432 (GRCm39)	C283Y	probably damaging	Het
Vmn2r81	T	A	10: 79,129,309 (GRCm39)	Y733*	probably null	Het
Wdr75	T	A	1: 45,856,487 (GRCm39)	C503*	probably null	Het
Zfp764	T	C	7: 127,004,541 (GRCm39)	M197V	probably benign	Het

Other mutations in BC048679

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02811:BC048679	APN	7	81,144,937 (GRCm39)	unclassified	probably benign
R0427:BC048679	UTSW	7	81,144,993 (GRCm39)	missense	probably benign	0.02
R1262:BC048679	UTSW	7	81,145,089 (GRCm39)	missense	probably benign
R4860:BC048679	UTSW	7	81,145,468 (GRCm39)	missense	probably benign	0.03
R4860:BC048679	UTSW	7	81,145,468 (GRCm39)	missense	probably benign	0.03
R5972:BC048679	UTSW	7	81,145,479 (GRCm39)	missense	probably damaging	1.00
R6050:BC048679	UTSW	7	81,145,339 (GRCm39)	missense	possibly damaging	0.46
R6332:BC048679	UTSW	7	81,144,966 (GRCm39)	missense	probably benign	0.37
R6804:BC048679	UTSW	7	81,146,612 (GRCm39)	missense	possibly damaging	0.90
R8509:BC048679	UTSW	7	81,145,116 (GRCm39)	missense	probably benign	0.01
R9197:BC048679	UTSW	7	81,144,966 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TTACTGAGTCCATGCCCAACAG -3'
(R):5'- AGGACGAAGGTGTAGGTCTC -3'

Sequencing Primer
(F):5'- AGTGCACACAGTTGCTGCTAG -3'
(R):5'- CGAAGGTGTAGGTCTCTGAAG -3'

Posted On

2016-07-06