Mutagenetix > Incidental Mutation

Incidental Mutation 'R8211:B430203G13Rik'

636181

Institutional Source

Beutler Lab

Gene Symbol

B430203G13Rik

Ensembl Gene

ENSMUSG00000067356

Gene Name

RIKEN cDNA B430203G13 gene

Synonyms

MMRRC Submission

067634-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8211 (G1)

Quality Score

177.009

Status

Validated

Chromosome

Chromosomal Location

17974295-17975669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17974540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 82 (H82L)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169657
AA Change: H82L

SMART Domains

Protein: ENSMUSP00000133094
Gene: ENSMUSG00000067356
AA Change: H82L

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
low complexity region	75	86	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330017A19Rik	A	G	17: 47,201,309 (GRCm39)		probably benign	Het
Adamtsl3	T	C	7: 82,172,371 (GRCm39)	S445P	probably damaging	Het
Afp	T	C	5: 90,649,345 (GRCm39)	I304T	possibly damaging	Het
Alk	G	A	17: 72,176,702 (GRCm39)	A1534V	probably benign	Het
Ank3	C	T	10: 69,703,228 (GRCm39)	P287L	unknown	Het
Appl1	T	C	14: 26,667,555 (GRCm39)	I367V	probably benign	Het
Arpin	T	A	7: 79,584,992 (GRCm39)	M1L	probably damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Bcl11a	T	A	11: 24,028,394 (GRCm39)	S2T	probably damaging	Het
Cfap299	A	G	5: 98,477,294 (GRCm39)	I28V	possibly damaging	Het
Cfap46	T	A	7: 139,213,220 (GRCm39)	M1605L	unknown	Het
Chga	C	A	12: 102,527,678 (GRCm39)	Q111K	possibly damaging	Het
Drc7	A	G	8: 95,782,707 (GRCm39)	E24G	unknown	Het
Dst	T	C	1: 34,251,532 (GRCm39)	L2195P	probably damaging	Het
Enpp5	G	A	17: 44,392,402 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,203,035 (GRCm39)	L13P	possibly damaging	Het
Grhl1	T	C	12: 24,636,151 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,199,515 (GRCm39)	I326T	probably damaging	Het
Krt26	C	T	11: 99,226,110 (GRCm39)	D195N	probably damaging	Het
Lamc2	A	T	1: 153,042,024 (GRCm39)	C37S	probably damaging	Het
Lrriq1	A	G	10: 103,006,408 (GRCm39)	L1239P	probably damaging	Het
Mrps5	T	A	2: 127,445,644 (GRCm39)	H390Q	probably benign	Het
Nphp3	T	A	9: 103,909,096 (GRCm39)	C769S	possibly damaging	Het
Obscn	A	G	11: 59,006,620 (GRCm39)	S1181P	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pabpc6	G	T	17: 9,888,386 (GRCm39)	A55E	probably damaging	Het
Pcdha9	A	T	18: 37,131,912 (GRCm39)	E327V	possibly damaging	Het
Pds5b	A	G	5: 150,652,407 (GRCm39)	T225A	possibly damaging	Het
Pi4ka	A	C	16: 17,100,769 (GRCm39)	I1807S		Het
Pick1	T	A	15: 79,132,930 (GRCm39)	I330N	probably damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rubcn	A	C	16: 32,656,913 (GRCm39)	C502W	possibly damaging	Het
Slc26a10	G	A	10: 127,009,834 (GRCm39)	R571C	probably benign	Het
Slc44a2	A	T	9: 21,259,434 (GRCm39)	N587Y	probably damaging	Het
Slfn2	T	G	11: 82,960,585 (GRCm39)	V188G	possibly damaging	Het
Smok2b	T	C	17: 13,454,680 (GRCm39)	V280A	probably benign	Het
Snx19	A	G	9: 30,348,761 (GRCm39)	E798G	probably benign	Het
Sspo	T	C	6: 48,469,543 (GRCm39)		probably null	Het
Ugt2b37	T	C	5: 87,390,235 (GRCm39)	I404V	probably benign	Het
Vmn1r160	T	C	7: 22,570,751 (GRCm39)	F35L	possibly damaging	Het
Vmn1r193	A	T	13: 22,403,286 (GRCm39)	Y235*	probably null	Het
Vmn2r53	T	C	7: 12,315,843 (GRCm39)	I659V	probably benign	Het
Vmn2r91	A	G	17: 18,326,762 (GRCm39)	D349G	probably damaging	Het
Zfp292	A	T	4: 34,806,163 (GRCm39)	S2299T	probably benign	Het
Zfp938	T	C	10: 82,062,419 (GRCm39)	N67S	possibly damaging	Het

Other mutations in B430203G13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0135:B430203G13Rik	UTSW	12	17,974,489 (GRCm39)	intron	noncoding transcript
R4271:B430203G13Rik	UTSW	12	17,974,358 (GRCm39)	intron	noncoding transcript
R4785:B430203G13Rik	UTSW	12	17,974,520 (GRCm39)	intron	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- ATCCTAGTAGCCACCTCCTG -3'
(R):5'- CTCTTTGGGAAGGGATAGAAATGC -3'

Sequencing Primer
(F):5'- GGGCTCAGCTCATTGTCC -3'
(R):5'- GGGATAGAAATGCCCTAGTTTTATTG -3'

Posted On

2020-07-13