Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:A730061H03Rik'

189049

Institutional Source

Beutler Lab

Gene Symbol

A730061H03Rik

Ensembl Gene

ENSMUSG00000053588

Gene Name

RIKEN cDNA A730061H03 gene

Synonyms

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55796554-55797865 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 55797790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066106] [ENSMUST00000072530] [ENSMUST00000117236] [ENSMUST00000117701] [ENSMUST00000121622] [ENSMUST00000128490] [ENSMUST00000133256] [ENSMUST00000147981] [ENSMUST00000150019] [ENSMUST00000152681] [ENSMUST00000143375] [ENSMUST00000143431] [ENSMUST00000150481]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000066106
AA Change: I25N

Predicted Effect

probably benign
Transcript: ENSMUST00000072530

SMART Domains

Protein: ENSMUSP00000072344
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
WD40	162	200	8.91e-1	SMART
WD40	205	246	8.25e0	SMART
WD40	252	293	2.39e0	SMART
WD40	296	336	1.44e-5	SMART
WD40	344	383	1.26e-5	SMART
WD40	424	469	1.72e0	SMART
WD40	472	511	1.49e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117236

SMART Domains

Protein: ENSMUSP00000113014
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
WD40	162	200	8.91e-1	SMART
WD40	205	246	8.25e0	SMART
WD40	252	293	2.39e0	SMART
WD40	296	336	1.44e-5	SMART
WD40	344	383	1.26e-5	SMART
WD40	424	469	1.72e0	SMART
WD40	472	511	1.49e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117701

SMART Domains

Protein: ENSMUSP00000113620
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
WD40	122	160	8.91e-1	SMART
WD40	165	206	8.25e0	SMART
WD40	212	253	2.39e0	SMART
WD40	256	296	1.44e-5	SMART
WD40	304	343	1.26e-5	SMART
WD40	384	429	1.72e0	SMART
WD40	432	471	1.49e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121622

SMART Domains

Protein: ENSMUSP00000113202
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
WD40	162	200	8.91e-1	SMART
WD40	205	246	8.25e0	SMART
WD40	252	293	2.39e0	SMART
WD40	296	336	1.44e-5	SMART
WD40	344	383	1.26e-5	SMART
WD40	424	469	1.72e0	SMART
WD40	472	511	1.49e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127991

Predicted Effect

probably benign
Transcript: ENSMUST00000128490

SMART Domains

Protein: ENSMUSP00000114211
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153638

Predicted Effect

probably benign
Transcript: ENSMUST00000133256

SMART Domains

Protein: ENSMUSP00000118404
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147981

SMART Domains

Protein: ENSMUSP00000123453
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150019

SMART Domains

Protein: ENSMUSP00000117617
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152681

SMART Domains

Protein: ENSMUSP00000120296
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143375

SMART Domains

Protein: ENSMUSP00000121570
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143431

SMART Domains

Protein: ENSMUSP00000118762
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150481

SMART Domains

Protein: ENSMUSP00000119001
Gene: ENSMUSG00000022214

Domain	Start	End	E-Value	Type
low complexity region	2	42	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
WD40	162	200	8.91e-1	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,050,964 (GRCm39)	A1582T	probably benign	Het
Acot8	A	T	2: 164,645,028 (GRCm39)	S52T	probably benign	Het
Atcay	C	T	10: 81,049,231 (GRCm39)	V124M	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,222,436 (GRCm39)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,379,792 (GRCm39)	H148L	probably benign	Het
Clstn3	A	G	6: 124,414,386 (GRCm39)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,248,524 (GRCm39)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,826,341 (GRCm39)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,080,543 (GRCm39)	T19K	unknown	Het
Disp1	A	T	1: 182,868,568 (GRCm39)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,364,680 (GRCm39)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,182,715 (GRCm39)	V205I	possibly damaging	Het
Dst	G	T	1: 34,321,657 (GRCm39)	G4391*	probably null	Het
Dytn	A	G	1: 63,700,357 (GRCm39)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,752,786 (GRCm39)		probably null	Het
Ermn	C	T	2: 57,942,596 (GRCm39)	V45I	probably benign	Het
Fat4	T	C	3: 39,011,467 (GRCm39)	V2189A	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,535 (GRCm39)	N1076Y	probably damaging	Het
Filip1l	T	C	16: 57,392,214 (GRCm39)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,229,558 (GRCm39)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,730,110 (GRCm39)	E227*	probably null	Het
Gsdmc	C	T	15: 63,651,892 (GRCm39)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,601,881 (GRCm39)	V248F	probably damaging	Het
Helz2	T	C	2: 180,875,940 (GRCm39)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,506,084 (GRCm39)	V3814A	probably benign	Het
Hoatz	A	T	9: 50,994,921 (GRCm39)	I136N	probably damaging	Het
Ifna7	A	G	4: 88,734,897 (GRCm39)	T145A	probably benign	Het
Itgam	T	A	7: 127,714,335 (GRCm39)	M947K	probably benign	Het
Itpr2	T	G	6: 146,277,646 (GRCm39)	N608H	probably damaging	Het
Klra2	T	A	6: 131,197,174 (GRCm39)	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,850,905 (GRCm39)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 74,980,412 (GRCm39)	I126V	probably benign	Het
Mr1	G	A	1: 155,008,201 (GRCm39)	T258M	probably benign	Het
Mrps35	T	G	6: 146,961,726 (GRCm39)	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,461,940 (GRCm39)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,574,241 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,076 (GRCm39)	I228F	possibly damaging	Het
Or13p5	A	G	4: 118,592,196 (GRCm39)	S157G	probably benign	Het
Or5c1	A	G	2: 37,221,951 (GRCm39)	Y64C	probably damaging	Het
Or5p59	A	T	7: 107,702,671 (GRCm39)	I52F	probably damaging	Het
Or8k3	A	G	2: 86,058,424 (GRCm39)	V297A	possibly damaging	Het
Paxx	T	C	2: 25,350,328 (GRCm39)	E93G	probably damaging	Het
Per2	C	A	1: 91,376,490 (GRCm39)	G128W	probably damaging	Het
Piezo1	A	G	8: 123,223,561 (GRCm39)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,654,353 (GRCm39)	S235P	probably damaging	Het
Pole	T	A	5: 110,483,788 (GRCm39)	F259Y	probably damaging	Het
Pus7	T	A	5: 23,952,798 (GRCm39)	K512*	probably null	Het
Ralyl	A	T	3: 14,172,296 (GRCm39)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,531,347 (GRCm39)	M451K	probably benign	Het
Rhag	T	C	17: 41,142,487 (GRCm39)	F231L	probably damaging	Het
Ric8a	T	C	7: 140,440,808 (GRCm39)	C94R	probably benign	Het
Rictor	T	A	15: 6,801,693 (GRCm39)	D460E	probably benign	Het
Rpn1	T	C	6: 88,077,926 (GRCm39)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,429,231 (GRCm39)	D427G	probably benign	Het
Scai	A	T	2: 38,970,129 (GRCm39)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 106,973,942 (GRCm39)	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,148,204 (GRCm39)	C277F	probably benign	Het
Slc15a1	A	T	14: 121,703,311 (GRCm39)	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,226,761 (GRCm39)	V628A	probably benign	Het
Slc8a2	G	T	7: 15,875,060 (GRCm39)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Supt5	T	C	7: 28,029,449 (GRCm39)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,831,648 (GRCm39)	Y346*	probably null	Het
Tg	T	G	15: 66,700,417 (GRCm39)		probably null	Het
Top1	T	A	2: 160,545,616 (GRCm39)		probably null	Het
Trmt12	T	C	15: 58,745,076 (GRCm39)	L158P	probably damaging	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Unc80	G	T	1: 66,711,915 (GRCm39)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,325,051 (GRCm39)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm39)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,396,240 (GRCm39)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,610,836 (GRCm39)	V709A	possibly damaging	Het

Other mutations in A730061H03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0755:A730061H03Rik	UTSW	14	55,797,638 (GRCm39)	unclassified	probably benign
R4974:A730061H03Rik	UTSW	14	55,797,574 (GRCm39)	unclassified	probably benign
R6143:A730061H03Rik	UTSW	14	55,797,736 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCAGTGAGGACTGCTTTCGACAG -3'
(R):5'- AGGTTAGAAGTCAGCCTAACACCCC -3'

Sequencing Primer
(F):5'- AAACGGTTGAACTGGGGTTG -3'
(R):5'- GCTAACAGCTCCTCAGTCG -3'

Posted On

2014-05-09