Mutagenetix > Incidental Mutation

Incidental Mutation 'R5736:B020004C17Rik'

451717

Institutional Source

Beutler Lab

Gene Symbol

B020004C17Rik

Ensembl Gene

ENSMUSG00000096144

Gene Name

RIKEN cDNA B020004C17 gene

Synonyms

MMRRC Submission

043194-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57252591-57256439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57254823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 216 (T216S)

Ref Sequence

ENSEMBL: ENSMUSP00000137042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178161]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178161
AA Change: T216S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137042
Gene: ENSMUSG00000096144
AA Change: T216S

Domain	Start	End	E-Value	Type
low complexity region	70	83	N/A	INTRINSIC
low complexity region	221	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225045

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.5%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	G	A	1: 75,197,211 (GRCm39)		probably benign	Het
Akt1	G	A	12: 112,623,284 (GRCm39)	R367C	probably benign	Het
Arl8a	T	A	1: 135,082,458 (GRCm39)	S150T	probably benign	Het
Casz1	G	A	4: 149,013,867 (GRCm39)	V144I	probably benign	Het
Cd274	G	T	19: 29,359,940 (GRCm39)	L248F	probably benign	Het
Crisp4	T	C	1: 18,185,939 (GRCm39)	T266A	probably benign	Het
Dlx6	A	T	6: 6,863,660 (GRCm39)	H94L	probably damaging	Het
Exoc1	A	G	5: 76,685,615 (GRCm39)	N109S	possibly damaging	Het
Grik2	T	C	10: 49,280,506 (GRCm39)	E128G	probably damaging	Het
Hs3st4	G	A	7: 123,996,662 (GRCm39)	E443K	probably damaging	Het
Ihh	T	C	1: 74,985,286 (GRCm39)	T400A	probably benign	Het
Lamb1	T	A	12: 31,352,664 (GRCm39)	C806*	probably null	Het
Lrrn1	T	C	6: 107,544,345 (GRCm39)	S48P	probably damaging	Het
Lsm11	T	C	11: 45,835,594 (GRCm39)	N49S	possibly damaging	Het
Map3k11	C	T	19: 5,746,739 (GRCm39)	A507V	probably damaging	Het
Mill2	A	T	7: 18,592,174 (GRCm39)	Q265L	probably benign	Het
Odad2	T	C	18: 7,268,416 (GRCm39)	T368A	probably benign	Het
Or4s2b	T	C	2: 88,508,985 (GRCm39)	M255T	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Peg10	T	A	6: 4,754,423 (GRCm39)	L68Q	probably benign	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Prkag2	A	T	5: 25,083,720 (GRCm39)	Y88N	probably damaging	Het
Prmt5	A	C	14: 54,752,297 (GRCm39)	D166E	probably null	Het
Robo4	A	T	9: 37,316,093 (GRCm39)	T366S	possibly damaging	Het
Samd3	T	C	10: 26,146,070 (GRCm39)	I365T	probably damaging	Het
Sdf2l1	A	T	16: 16,949,571 (GRCm39)	C92S	probably damaging	Het
Serpinb6e	A	G	13: 34,016,753 (GRCm39)	F327L	probably damaging	Het
Slc17a6	G	A	7: 51,294,841 (GRCm39)	V183I	possibly damaging	Het
Slc6a11	T	C	6: 114,139,123 (GRCm39)	S244P	probably damaging	Het
Slc6a5	A	G	7: 49,609,102 (GRCm39)	D769G	probably benign	Het
Slc7a14	A	T	3: 31,278,059 (GRCm39)	D515E	probably benign	Het
Slco2a1	A	T	9: 102,945,029 (GRCm39)	S135C	probably benign	Het
Spidr	A	T	16: 15,715,162 (GRCm39)	D801E	probably damaging	Het
Spta1	T	C	1: 174,041,821 (GRCm39)		probably null	Het
Tmem71	C	T	15: 66,404,496 (GRCm39)	V264I	probably benign	Het
Zfp563	G	T	17: 33,323,960 (GRCm39)	R185L	possibly damaging	Het
Zfp941	G	A	7: 140,392,973 (GRCm39)	P129S	probably benign	Het

Other mutations in B020004C17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:B020004C17Rik	APN	14	57,253,480 (GRCm39)	missense	probably damaging	0.96
IGL03396:B020004C17Rik	APN	14	57,253,993 (GRCm39)	missense	possibly damaging	0.61
R0664:B020004C17Rik	UTSW	14	57,254,225 (GRCm39)	missense	possibly damaging	0.56
R3977:B020004C17Rik	UTSW	14	57,254,645 (GRCm39)	missense	possibly damaging	0.78
R3978:B020004C17Rik	UTSW	14	57,254,645 (GRCm39)	missense	possibly damaging	0.78
R3979:B020004C17Rik	UTSW	14	57,254,645 (GRCm39)	missense	possibly damaging	0.78
R4415:B020004C17Rik	UTSW	14	57,254,874 (GRCm39)	makesense	probably null
R5290:B020004C17Rik	UTSW	14	57,254,036 (GRCm39)	missense	possibly damaging	0.94
R5479:B020004C17Rik	UTSW	14	57,253,999 (GRCm39)	missense	probably benign	0.36
R5651:B020004C17Rik	UTSW	14	57,252,689 (GRCm39)	start gained	probably benign
R5655:B020004C17Rik	UTSW	14	57,252,689 (GRCm39)	start gained	probably benign
R7368:B020004C17Rik	UTSW	14	57,254,773 (GRCm39)	missense	possibly damaging	0.95
R7759:B020004C17Rik	UTSW	14	57,254,242 (GRCm39)	missense	possibly damaging	0.96
R9299:B020004C17Rik	UTSW	14	57,254,230 (GRCm39)	missense	probably damaging	0.96
R9410:B020004C17Rik	UTSW	14	57,254,273 (GRCm39)	missense	possibly damaging	0.92
Z1177:B020004C17Rik	UTSW	14	57,252,717 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAACCTCCAATGGTGATGCC -3'
(R):5'- ACACTTATGTCCCCTATAAAGTGAC -3'

Sequencing Primer
(F):5'- GGTGATGCCATCTCCAGTATACCAG -3'
(R):5'- GTCCCCTATAAAGTGACAAGAATTC -3'

Posted On

2017-01-03