Mutagenetix > Incidental Mutation

Incidental Mutation 'R5701:D930048N14Rik'

450901

Institutional Source

Beutler Lab

Gene Symbol

D930048N14Rik

Ensembl Gene

ENSMUSG00000052563

Gene Name

RIKEN cDNA D930048N14 gene

Synonyms

MMRRC Submission

043181-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51541781-51548508 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 51544556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000064493] [ENSMUST00000117859] [ENSMUST00000142721] [ENSMUST00000156835]

AlphaFold

A2AA67

Predicted Effect

probably benign
Transcript: ENSMUST00000001080

SMART Domains

Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053

Domain	Start	End	E-Value	Type
low complexity region	176	207	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
coiled coil region	295	334	N/A	INTRINSIC
Pfam:Fez1	359	442	2.3e-21	PFAM
Pfam:Fez1	433	519	4e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000064493

SMART Domains

Protein: ENSMUSP00000069562
Gene: ENSMUSG00000052563

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117859

SMART Domains

Protein: ENSMUSP00000113687
Gene: ENSMUSG00000052563

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142721

Predicted Effect

probably benign
Transcript: ENSMUST00000156835

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Asxl1	A	G	2: 153,241,409 (GRCm39)	E653G	probably damaging	Het
AW551984	G	A	9: 39,504,118 (GRCm39)	A616V	probably benign	Het
Birc6	T	C	17: 75,004,420 (GRCm39)	M4763T	possibly damaging	Het
Bltp1	T	A	3: 36,975,509 (GRCm39)	M727K	probably benign	Het
Cand2	T	G	6: 115,774,893 (GRCm39)	F1034V	probably damaging	Het
Ccdc80	T	C	16: 44,936,741 (GRCm39)	V722A	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chrnd	G	A	1: 87,125,380 (GRCm39)	V340I	possibly damaging	Het
Clip1	T	C	5: 123,751,366 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,513,617 (GRCm39)	E1920G	probably damaging	Het
Csmd3	A	T	15: 48,403,729 (GRCm39)	F194I	probably damaging	Het
Defa28	T	C	8: 22,073,863 (GRCm39)	Y89H	probably benign	Het
Dnah1	C	T	14: 30,996,001 (GRCm39)	G2705E	probably damaging	Het
Eci2	A	T	13: 35,174,250 (GRCm39)	S104T	possibly damaging	Het
Ep300	T	C	15: 81,485,696 (GRCm39)	S228P	unknown	Het
Gabrb2	T	A	11: 42,378,201 (GRCm39)	M139K	probably damaging	Het
Gbp4	T	A	5: 105,266,265 (GRCm39)	N592I	possibly damaging	Het
Gpr158	C	T	2: 21,751,520 (GRCm39)	R480C	probably damaging	Het
Gps1	A	G	11: 120,676,008 (GRCm39)	D71G	probably benign	Het
Hoxc9	T	C	15: 102,890,313 (GRCm39)	Y77H	possibly damaging	Het
Il9r	T	A	11: 32,143,263 (GRCm39)	Y231F	probably benign	Het
Klhl1	A	G	14: 96,438,816 (GRCm39)	M494T	probably benign	Het
Kmt2c	A	G	5: 25,519,015 (GRCm39)	V2365A	probably benign	Het
Kri1	T	A	9: 21,192,425 (GRCm39)	K241M	possibly damaging	Het
Macf1	A	T	4: 123,397,018 (GRCm39)	C928S	probably damaging	Het
Mcm2	T	C	6: 88,870,073 (GRCm39)	D32G	probably damaging	Het
Mex3d	T	C	10: 80,217,379 (GRCm39)	T613A	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Myh9	T	C	15: 77,675,964 (GRCm39)	I241V	probably benign	Het
Myo6	C	T	9: 80,165,809 (GRCm39)	T398I	probably damaging	Het
Nckap1l	G	A	15: 103,381,195 (GRCm39)	A366T	probably benign	Het
Or5m11	A	G	2: 85,782,168 (GRCm39)	T254A	possibly damaging	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Rapgef6	T	C	11: 54,567,220 (GRCm39)	W857R	possibly damaging	Het
Raxos1	G	A	18: 66,071,059 (GRCm39)		probably benign	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Slc66a2	T	A	18: 80,315,693 (GRCm39)	D118E	possibly damaging	Het
Synpo2	C	G	3: 122,873,879 (GRCm39)	G1029A	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG	17: 51,106,983 (GRCm39)		probably benign	Het
Vmn2r14	T	C	5: 109,367,816 (GRCm39)	Y392C	probably damaging	Het
Vmn2r55	A	G	7: 12,404,492 (GRCm39)	F304L	probably benign	Het
Zfp316	C	T	5: 143,240,132 (GRCm39)	G629D	probably benign	Het

Other mutations in D930048N14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01090:D930048N14Rik	APN	11	51,544,610 (GRCm39)	unclassified	probably benign
IGL01347:D930048N14Rik	APN	11	51,545,615 (GRCm39)	unclassified	probably benign
IGL01419:D930048N14Rik	APN	11	51,545,603 (GRCm39)	unclassified	probably benign
IGL02696:D930048N14Rik	APN	11	51,544,821 (GRCm39)	unclassified	probably benign
R0513:D930048N14Rik	UTSW	11	51,545,755 (GRCm39)	unclassified	probably benign
R1465:D930048N14Rik	UTSW	11	51,545,740 (GRCm39)	unclassified	probably benign
R1465:D930048N14Rik	UTSW	11	51,545,740 (GRCm39)	unclassified	probably benign
R1649:D930048N14Rik	UTSW	11	51,545,663 (GRCm39)	unclassified	probably benign
R1852:D930048N14Rik	UTSW	11	51,544,692 (GRCm39)	unclassified	probably benign
R3421:D930048N14Rik	UTSW	11	51,545,785 (GRCm39)	makesense	probably null
R3422:D930048N14Rik	UTSW	11	51,545,785 (GRCm39)	makesense	probably null
R4210:D930048N14Rik	UTSW	11	51,545,632 (GRCm39)	unclassified	probably benign
R6656:D930048N14Rik	UTSW	11	51,544,576 (GRCm39)	unclassified	probably benign
R8431:D930048N14Rik	UTSW	11	51,541,946 (GRCm39)	frame shift	probably null
R8505:D930048N14Rik	UTSW	11	51,541,946 (GRCm39)	frame shift	probably null
R8758:D930048N14Rik	UTSW	11	51,544,568 (GRCm39)	missense	unknown
R9061:D930048N14Rik	UTSW	11	51,545,734 (GRCm39)	missense	unknown
R9164:D930048N14Rik	UTSW	11	51,545,609 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTTGCCTACACGTATGCCTGG -3'
(R):5'- TGGGTGTCACTGAACCTGAC -3'

Sequencing Primer
(F):5'- GTAAGCAGTGTTCCTAACCACTGAG -3'
(R):5'- GGTGTCACTGAACCTGACTCACTTAG -3'

Posted On

2017-01-03