Mutagenetix > Incidental Mutation

Incidental Mutation 'R9555:B130006D01Rik'

720717

Institutional Source

Beutler Lab

Gene Symbol

B130006D01Rik

Ensembl Gene

ENSMUSG00000075596

Gene Name

RIKEN cDNA B130006D01 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R9555 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95614412-95617599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95616956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 27 (H27L)

Ref Sequence

ENSEMBL: ENSMUSP00000098103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100534] [ENSMUST00000107717] [ENSMUST00000133070]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000100534
AA Change: H27L

SMART Domains

Protein: ENSMUSP00000098103
Gene: ENSMUSG00000075596
AA Change: H27L

Domain	Start	End	E-Value	Type
low complexity region	60	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107717

SMART Domains

Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
low complexity region	173	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
ZnF_C2H2	244	267	7.9e-4	SMART
ZnF_C2H2	271	291	6.15e1	SMART
ZnF_C2H2	298	321	1.76e-1	SMART
ZnF_C2H2	328	350	2.53e-2	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.95e-3	SMART
ZnF_C2H2	412	434	1.95e-3	SMART
ZnF_C2H2	440	462	1.15e-5	SMART
ZnF_C2H2	468	488	6.15e1	SMART
low complexity region	508	529	N/A	INTRINSIC
low complexity region	544	576	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133070

SMART Domains

Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
low complexity region	173	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
ZnF_C2H2	244	267	7.9e-4	SMART
ZnF_C2H2	271	291	6.15e1	SMART
ZnF_C2H2	298	321	1.76e-1	SMART
ZnF_C2H2	328	350	2.53e-2	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.95e-3	SMART
ZnF_C2H2	412	434	1.95e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,947 (GRCm39)	V259A	probably benign	Het
Abcd4	T	C	12: 84,661,949 (GRCm39)	I63V	probably benign	Het
Agps	C	A	2: 75,683,091 (GRCm39)	P139T	probably damaging	Het
BC024139	A	G	15: 76,005,359 (GRCm39)	V501A	possibly damaging	Het
Cacul1	A	T	19: 60,533,887 (GRCm39)	Y238*	probably null	Het
Cep55	T	C	19: 38,059,592 (GRCm39)		probably null	Het
Csf1r	T	A	18: 61,243,473 (GRCm39)	I163N	possibly damaging	Het
Ddx3y	G	T	Y: 1,265,895 (GRCm39)	D367E	probably benign	Het
Ecpas	T	A	4: 58,879,083 (GRCm39)	I69L	possibly damaging	Het
Epb41l4a	A	G	18: 34,009,966 (GRCm39)	V213A	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Klrb1a	T	C	6: 128,595,427 (GRCm39)	E142G	probably damaging	Het
Lamb3	A	T	1: 193,011,113 (GRCm39)	I369F	possibly damaging	Het
Lig1	T	C	7: 13,025,400 (GRCm39)	V254A	probably benign	Het
Lrp1b	T	A	2: 40,741,693 (GRCm39)	D3192V		Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map1s	T	A	8: 71,367,236 (GRCm39)	S714T	probably benign	Het
Marchf2	A	G	17: 33,922,129 (GRCm39)	L77P	probably damaging	Het
Nek8	A	G	11: 78,067,390 (GRCm39)	F15L	probably benign	Het
Or1s2	T	A	19: 13,758,360 (GRCm39)	I126N	probably damaging	Het
Pdzrn4	C	T	15: 92,297,703 (GRCm39)	R223C	probably damaging	Het
Per1	T	A	11: 68,995,574 (GRCm39)	V718D	probably benign	Het
Pik3ca	A	G	3: 32,505,916 (GRCm39)	H676R	probably damaging	Het
Pla2g4e	C	A	2: 120,075,400 (GRCm39)		probably benign	Het
Proser1	A	T	3: 53,378,876 (GRCm39)	I103F	possibly damaging	Het
Pyroxd1	G	A	6: 142,300,421 (GRCm39)	A184T	possibly damaging	Het
Rin2	C	T	2: 145,718,415 (GRCm39)	Q632*	probably null	Het
Serpinb12	C	T	1: 106,884,345 (GRCm39)	H364Y	probably damaging	Het
Sfxn3	G	A	19: 45,038,211 (GRCm39)	E64K	probably benign	Het
Slc38a1	C	T	15: 96,486,860 (GRCm39)	V199M	possibly damaging	Het
Tep1	A	G	14: 51,105,888 (GRCm39)	I44T	possibly damaging	Het
Trip13	T	A	13: 74,084,252 (GRCm39)	T78S	probably benign	Het
Trmt11	T	C	10: 30,470,150 (GRCm39)	D58G	possibly damaging	Het
Usp28	A	T	9: 48,952,736 (GRCm39)	I1015F	probably damaging	Het
Vcan	T	C	13: 89,839,659 (GRCm39)	T1962A		Het
Vmn2r100	T	A	17: 19,743,857 (GRCm39)	S507T	probably benign	Het
Vmn2r91	C	T	17: 18,325,792 (GRCm39)	P137S	possibly damaging	Het
Zfp84	G	T	7: 29,476,102 (GRCm39)	V265F	probably damaging	Het

Other mutations in B130006D01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01537:B130006D01Rik	APN	11	95,616,992 (GRCm39)	intron	probably benign
R0157:B130006D01Rik	UTSW	11	95,617,211 (GRCm39)	intron	probably benign
R4204:B130006D01Rik	UTSW	11	95,617,250 (GRCm39)	intron	probably benign
R4608:B130006D01Rik	UTSW	11	95,617,066 (GRCm39)	intron	probably benign
R4667:B130006D01Rik	UTSW	11	95,617,335 (GRCm39)	intron	probably benign
R6222:B130006D01Rik	UTSW	11	95,616,988 (GRCm39)	intron	probably benign
R7739:B130006D01Rik	UTSW	11	95,616,986 (GRCm39)	missense	unknown
R8470:B130006D01Rik	UTSW	11	95,617,175 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGTGCTACAGAGTGGAGAC -3'
(R):5'- AATCCCCAAGTGACTGATGC -3'

Sequencing Primer
(F):5'- CAGGAGGAGGGTCTCAGG -3'
(R):5'- CTACAGCTCGTGAACTGGGAATC -3'

Posted On

2022-08-09