Mutagenetix > Incidental Mutation

Incidental Mutation 'R6579:6330409D20Rik'

523908

Institutional Source

Beutler Lab

Gene Symbol

6330409D20Rik

Ensembl Gene

ENSMUSG00000009551

Gene Name

RIKEN cDNA 6330409D20 gene

Synonyms

MMRRC Submission

044703-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6579 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32622632-32631028 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 32630663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009695] [ENSMUST00000074248] [ENSMUST00000113242]

AlphaFold

A2AK85

Predicted Effect

unknown
Transcript: ENSMUST00000009695
AA Change: H37R

SMART Domains

Protein: ENSMUSP00000009695
Gene: ENSMUSG00000009551
AA Change: H37R

Domain	Start	End	E-Value	Type
low complexity region	73	86	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074248

SMART Domains

Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013

Domain	Start	End	E-Value	Type
low complexity region	11	18	N/A	INTRINSIC
low complexity region	22	43	N/A	INTRINSIC
low complexity region	86	98	N/A	INTRINSIC
low complexity region	117	132	N/A	INTRINSIC
low complexity region	190	207	N/A	INTRINSIC
SH2	213	301	7.8e-21	SMART
low complexity region	333	348	N/A	INTRINSIC
low complexity region	400	415	N/A	INTRINSIC
low complexity region	422	436	N/A	INTRINSIC
low complexity region	474	487	N/A	INTRINSIC
RasGEF	576	849	8.18e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113242

SMART Domains

Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC
SH2	61	149	7.8e-21	SMART
low complexity region	181	196	N/A	INTRINSIC
low complexity region	248	263	N/A	INTRINSIC
low complexity region	270	284	N/A	INTRINSIC
low complexity region	322	335	N/A	INTRINSIC
RasGEF	424	697	8.18e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131101

SMART Domains

Protein: ENSMUSP00000122613
Gene: ENSMUSG00000059013

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
low complexity region	37	54	N/A	INTRINSIC
SH2	60	148	7.8e-21	SMART
low complexity region	180	195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141670

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,161,507 (GRCm39)	V80D	possibly damaging	Het
Adam15	C	T	3: 89,252,936 (GRCm39)	V261M	probably damaging	Het
Adam29	G	T	8: 56,325,779 (GRCm39)	T225K	probably damaging	Het
Ankrd52	A	G	10: 128,223,011 (GRCm39)	T654A	probably damaging	Het
AU021092	T	A	16: 5,040,020 (GRCm39)	I35F	probably damaging	Het
Cdk20	G	T	13: 64,584,348 (GRCm39)	Q114H	probably benign	Het
Col22a1	A	C	15: 71,753,502 (GRCm39)	S133A	probably benign	Het
Cyp3a44	A	T	5: 145,727,516 (GRCm39)	F271Y	probably damaging	Het
Dchs1	A	T	7: 105,412,120 (GRCm39)	V1332E	probably benign	Het
Dhrs7l	A	T	12: 72,668,658 (GRCm39)	D117E	probably benign	Het
Dnai7	A	T	6: 145,124,744 (GRCm39)	M527K	probably benign	Het
Dnajc5	A	G	2: 181,189,209 (GRCm39)	N62D	possibly damaging	Het
Gm3045	C	T	13: 56,578,103 (GRCm39)	S180L	probably damaging	Het
Hycc1	A	T	5: 24,171,381 (GRCm39)	V347D	possibly damaging	Het
Igkv14-130	T	A	6: 67,768,421 (GRCm39)	Y93*	probably null	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nell2	A	T	15: 95,282,957 (GRCm39)	Y362N	possibly damaging	Het
Or5an1c	C	T	19: 12,218,726 (GRCm39)	V100I	probably benign	Het
Peli1	A	T	11: 21,097,059 (GRCm39)	T150S	probably benign	Het
Pkhd1	T	C	1: 20,271,047 (GRCm39)	T3169A	probably benign	Het
Polr2m	T	A	9: 71,393,002 (GRCm39)	E26V	probably damaging	Het
Rhbdf2	A	G	11: 116,495,289 (GRCm39)	V238A	probably benign	Het
Rims1	G	T	1: 22,496,166 (GRCm39)	P820H	probably damaging	Het
Rnf213	A	G	11: 119,327,106 (GRCm39)	T1698A	probably damaging	Het
Scgn	C	T	13: 24,143,717 (GRCm39)	A216T	probably damaging	Het
Serpina11	T	A	12: 103,951,007 (GRCm39)	D238V	probably damaging	Het
Setd2	A	T	9: 110,378,846 (GRCm39)	E887V	possibly damaging	Het
Tiam2	CGGG	CGGGG	17: 3,464,897 (GRCm39)		probably null	Het
Trak1	C	A	9: 121,272,704 (GRCm39)	N197K	probably benign	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Uchl5	T	A	1: 143,674,130 (GRCm39)	Y211N	probably damaging	Het
Usf3	T	A	16: 44,039,197 (GRCm39)	S1226T	possibly damaging	Het
Utrn	T	C	10: 12,623,750 (GRCm39)	T163A	probably benign	Het
Ywhaz	T	C	15: 36,791,166 (GRCm39)	Y19C	probably damaging	Het
Zcchc14	T	C	8: 122,331,206 (GRCm39)		probably benign	Het

Other mutations in 6330409D20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02073:6330409D20Rik	APN	2	32,630,698 (GRCm39)	intron	probably benign
R1900:6330409D20Rik	UTSW	2	32,630,559 (GRCm39)	intron	probably benign
R5196:6330409D20Rik	UTSW	2	32,630,552 (GRCm39)	intron	probably benign
R7151:6330409D20Rik	UTSW	2	32,630,618 (GRCm39)	missense	unknown
R8327:6330409D20Rik	UTSW	2	32,627,623 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTCACCTGCTTGATGTCGC -3'
(R):5'- TACTGTGTCATAACTAGGCATCAC -3'

Sequencing Primer
(F):5'- CACCTGCTTGATGTCGCATAGG -3'
(R):5'- CAAAACCTAGACTTGGGGCTCTTAG -3'

Posted On

2018-06-22