Mutagenetix > Incidental Mutation

Incidental Mutation 'R5478:BC048562'

434169

Institutional Source

Beutler Lab

Gene Symbol

BC048562

Ensembl Gene

ENSMUSG00000050641

Gene Name

cDNA sequence BC048562

Synonyms

MMRRC Submission

043039-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5478 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

108313681-108323282 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 108322363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035232] [ENSMUST00000057265] [ENSMUST00000193286] [ENSMUST00000193895] [ENSMUST00000195435]

AlphaFold

Q80ZQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000035232

SMART Domains

Protein: ENSMUSP00000035232
Gene: ENSMUSG00000032609

Domain	Start	End	E-Value	Type
Kelch	32	79	2.08e-6	SMART
Kelch	80	127	1.9e-1	SMART
Kelch	128	174	1.76e-4	SMART
Kelch	176	222	3.74e-8	SMART
Kelch	239	281	8.33e0	SMART
Kelch	282	329	3.83e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057265

SMART Domains

Protein: ENSMUSP00000059069
Gene: ENSMUSG00000050641

Domain	Start	End	E-Value	Type
Pfam:HDNR	3	156	1.7e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192955

Predicted Effect

probably benign
Transcript: ENSMUST00000193286

SMART Domains

Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609

Domain	Start	End	E-Value	Type
Kelch	32	79	2.08e-6	SMART
Kelch	80	127	1.9e-1	SMART
Kelch	128	174	1.76e-4	SMART
Kelch	176	222	3.74e-8	SMART
Kelch	239	281	8.33e0	SMART
Kelch	282	329	3.83e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193895

SMART Domains

Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609

Domain	Start	End	E-Value	Type
Kelch	32	79	2.08e-6	SMART
Kelch	80	127	1.9e-1	SMART
Kelch	128	174	1.76e-4	SMART
Kelch	176	222	3.74e-8	SMART
Kelch	239	281	8.33e0	SMART
Kelch	282	329	3.83e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194633

Predicted Effect

probably benign
Transcript: ENSMUST00000195435

SMART Domains

Protein: ENSMUSP00000141558
Gene: ENSMUSG00000032609

Domain	Start	End	E-Value	Type
Kelch	32	79	7e-9	SMART
Kelch	80	127	6.3e-4	SMART
Kelch	128	176	1.5e-8	SMART
Kelch	193	235	2.8e-2	SMART
Kelch	236	283	1.3e-7	SMART

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.6%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,827,904 (GRCm39)		probably benign	Het
Adamts2	T	C	11: 50,683,478 (GRCm39)	V920A	possibly damaging	Het
Alpk1	A	G	3: 127,471,368 (GRCm39)	V1038A	probably damaging	Het
Amotl1	A	G	9: 14,504,048 (GRCm39)		probably null	Het
Apba2	T	A	7: 64,344,934 (GRCm39)	Y41*	probably null	Het
Braf	A	G	6: 39,654,508 (GRCm39)	L86P	possibly damaging	Het
Capn3	A	G	2: 120,294,666 (GRCm39)		probably null	Het
Carmil1	T	C	13: 24,296,028 (GRCm39)	D371G	probably damaging	Het
Cdhr4	G	A	9: 107,872,790 (GRCm39)	V280I	possibly damaging	Het
Cdkl2	T	A	5: 92,187,108 (GRCm39)	K53*	probably null	Het
Chl1	A	T	6: 103,660,182 (GRCm39)	E353D	probably damaging	Het
Col4a2	T	A	8: 11,448,697 (GRCm39)	N72K	probably benign	Het
Comtd1	A	T	14: 21,898,981 (GRCm39)		probably benign	Het
Ctsm	A	T	13: 61,685,543 (GRCm39)	S290T	probably benign	Het
Defa35	A	T	8: 21,555,836 (GRCm39)	Y65F	probably benign	Het
Dock8	T	A	19: 25,057,186 (GRCm39)	C198S	probably benign	Het
Epha3	A	C	16: 63,403,896 (GRCm39)	M734R	probably damaging	Het
Fastkd2	T	C	1: 63,778,345 (GRCm39)	I406T	probably benign	Het
Fshr	C	T	17: 89,309,143 (GRCm39)	V222I	probably benign	Het
Gm16686	A	T	4: 88,673,714 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,885 (GRCm39)	E279G	probably benign	Het
Gm5709	A	T	3: 59,543,095 (GRCm39)		noncoding transcript	Het
Grin3a	C	A	4: 49,792,481 (GRCm39)	M417I	probably benign	Het
Hnf4a	A	T	2: 163,410,926 (GRCm39)	M408L	probably benign	Het
Idh1	A	T	1: 65,200,997 (GRCm39)	M318K	probably benign	Het
Krt222	A	G	11: 99,125,774 (GRCm39)	S286P	probably damaging	Het
Mmrn2	A	T	14: 34,118,539 (GRCm39)	T142S	probably benign	Het
Myocd	G	T	11: 65,123,914 (GRCm39)		probably null	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Or52ab7	T	C	7: 102,978,032 (GRCm39)	L113P	probably damaging	Het
Or5h17	A	T	16: 58,820,425 (GRCm39)	I126L	possibly damaging	Het
Pcdhgc4	C	T	18: 37,950,375 (GRCm39)	T597M	probably damaging	Het
Pdrg1	A	G	2: 152,857,152 (GRCm39)		probably benign	Het
Per2	T	A	1: 91,360,590 (GRCm39)	I521F	probably benign	Het
Pkhd1	G	A	1: 20,271,380 (GRCm39)	L3058F	probably damaging	Het
Plaat5	A	C	19: 7,592,036 (GRCm39)		probably benign	Het
Pnliprp1	A	T	19: 58,723,423 (GRCm39)		probably null	Het
Ppargc1b	T	A	18: 61,440,639 (GRCm39)	M744L	probably benign	Het
Prpf18	A	T	2: 4,643,705 (GRCm39)	N155K	probably benign	Het
Pum1	T	A	4: 130,478,795 (GRCm39)	N472K	possibly damaging	Het
Reln	A	T	5: 22,209,201 (GRCm39)	S1126T	probably benign	Het
Rnase11	A	G	14: 51,287,332 (GRCm39)	L74P	probably damaging	Het
Slc25a23	T	A	17: 57,359,780 (GRCm39)	I324F	probably damaging	Het
Slc26a10	C	A	10: 127,009,818 (GRCm39)	R576L	probably benign	Het
Slc4a1	T	A	11: 102,241,140 (GRCm39)	E921D	probably damaging	Het
Slc9c1	A	T	16: 45,374,609 (GRCm39)	M296L	probably damaging	Het
Sos1	T	C	17: 80,741,276 (GRCm39)	D503G	probably damaging	Het
Srpk2	G	A	5: 23,729,181 (GRCm39)	T486I	possibly damaging	Het
Sult6b1	A	T	17: 79,202,101 (GRCm39)		probably null	Het
Tbc1d16	T	C	11: 119,045,917 (GRCm39)	E509G	probably benign	Het
Tktl2	T	C	8: 66,966,050 (GRCm39)	V536A	probably damaging	Het
Ugt2b36	A	T	5: 87,237,341 (GRCm39)	V188D	probably damaging	Het
Veph1	T	C	3: 66,162,443 (GRCm39)	T72A	probably damaging	Het
Vmn2r73	A	T	7: 85,518,996 (GRCm39)	I542N	probably damaging	Het
Vps13d	G	A	4: 144,894,120 (GRCm39)	P480S	probably damaging	Het
Zfp319	A	G	8: 96,052,193 (GRCm39)		probably benign	Het

Other mutations in BC048562

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0420:BC048562	UTSW	9	108,323,165 (GRCm39)	missense	probably benign	0.02
R4448:BC048562	UTSW	9	108,315,723 (GRCm39)	missense	probably damaging	1.00
R5390:BC048562	UTSW	9	108,313,777 (GRCm39)	missense	probably damaging	1.00
R7276:BC048562	UTSW	9	108,322,435 (GRCm39)	missense	probably damaging	1.00
R8407:BC048562	UTSW	9	108,315,631 (GRCm39)	missense	possibly damaging	0.91
R9301:BC048562	UTSW	9	108,323,054 (GRCm39)	missense	probably damaging	1.00
R9568:BC048562	UTSW	9	108,322,905 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGAAGCCTGAAGCCTGGTC -3'
(R):5'- AAACCTGCTCCCTAAAGGTC -3'

Sequencing Primer
(F):5'- GGCAACTTGGATTTAAAGCCCTC -3'
(R):5'- CCCTAAAGGTCTCGGGTCTAC -3'

Posted On

2016-10-06