Mutagenetix > Incidental Mutation

Incidental Mutation 'R2972:D930007J09Rik'

255253

Institutional Source

Beutler Lab

Gene Symbol

D930007J09Rik

Ensembl Gene

ENSMUSG00000042874

Gene Name

RIKEN cDNA D930007J09 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R2972 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

32984616-32987074 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 32986742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021832] [ENSMUST00000057911]

AlphaFold

no structure available at present

Predicted Effect

silent
Transcript: ENSMUST00000021832

SMART Domains

Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400

Domain	Start	End	E-Value	Type
ZnF_Rad18	17	40	4.76e-10	SMART
low complexity region	90	110	N/A	INTRINSIC
low complexity region	135	156	N/A	INTRINSIC
low complexity region	158	183	N/A	INTRINSIC
AAA	255	375	9.86e-16	SMART
Pfam:AAA_assoc_2	413	506	6.4e-26	PFAM
Pfam:MgsA_C	507	659	3.9e-61	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000057911
AA Change: A31T

SMART Domains

Protein: ENSMUSP00000050235
Gene: ENSMUSG00000042874
AA Change: A31T

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
low complexity region	37	46	N/A	INTRINSIC
low complexity region	49	59	N/A	INTRINSIC
transmembrane domain	93	115	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221066

Predicted Effect

probably benign
Transcript: ENSMUST00000229351

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC048507	T	C	13: 68,011,749 (GRCm39)	I42T	probably benign	Het
Card9	C	T	2: 26,247,222 (GRCm39)	R309H	probably damaging	Het
Clec14a	T	A	12: 58,314,360 (GRCm39)	R421W	probably damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
Dhrs7c	T	A	11: 67,706,697 (GRCm39)	I285N	possibly damaging	Het
Golga2	A	G	2: 32,195,671 (GRCm39)	N752S	probably benign	Het
Klrb1-ps1	A	G	6: 129,096,719 (GRCm39)		noncoding transcript	Het
Nin	G	A	12: 70,109,487 (GRCm39)	R151C	probably damaging	Het
Nsun6	A	C	2: 15,042,883 (GRCm39)		probably null	Het
Nyap2	C	T	1: 81,169,485 (GRCm39)	R81*	probably null	Het
Or1n2	G	A	2: 36,797,416 (GRCm39)	V153M	probably benign	Het
Or4a69	G	T	2: 89,313,120 (GRCm39)	R120S	possibly damaging	Het
Pkhd1l1	T	A	15: 44,410,644 (GRCm39)	M2717K	possibly damaging	Het
Ralgapa1	T	C	12: 55,867,540 (GRCm39)	K5E	possibly damaging	Het
Rnf130	T	A	11: 49,984,627 (GRCm39)	L309*	probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rxrg	G	A	1: 167,466,715 (GRCm39)	R422H	probably damaging	Het
Serpinb9e	T	A	13: 33,439,126 (GRCm39)	V184E	probably benign	Het
Slc10a5	A	T	3: 10,399,517 (GRCm39)	I381N	probably damaging	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,431,581 (GRCm39)	T368A	probably damaging	Het
Ubr4	T	C	4: 139,133,847 (GRCm39)	Y748H	probably benign	Het
Ugt8a	T	C	3: 125,708,957 (GRCm39)	H51R	probably benign	Het
Vmn2r117	A	G	17: 23,678,830 (GRCm39)	V798A	probably damaging	Het
Vmn2r77	T	C	7: 86,452,893 (GRCm39)	Y537H	probably benign	Het

Other mutations in D930007J09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2973:D930007J09Rik	UTSW	13	32,986,742 (GRCm39)	unclassified	probably benign
R2974:D930007J09Rik	UTSW	13	32,986,742 (GRCm39)	unclassified	probably benign
R5886:D930007J09Rik	UTSW	13	32,986,819 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGCACATCAATTCGCACCTG -3'
(R):5'- ATGTAGTCCTGCAGCGTGTC -3'

Sequencing Primer
(F):5'- TCAATTCGCACCTGGACCG -3'
(R):5'- GTCTGGACGCATCTTGTCAGC -3'

Posted On

2014-12-29