Mutagenetix > Incidental Mutation

Incidental Mutation 'R2186:2310033P09Rik'

237779

Institutional Source

Beutler Lab

Gene Symbol

2310033P09Rik

Ensembl Gene

ENSMUSG00000020441

Gene Name

RIKEN cDNA 2310033P09 gene

Synonyms

MMRRC Submission

040188-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R2186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59099187-59101562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59099340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 29 (N29S)

Ref Sequence

ENSEMBL: ENSMUSP00000020719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020719] [ENSMUST00000045697] [ENSMUST00000061242] [ENSMUST00000108784] [ENSMUST00000108785] [ENSMUST00000108786] [ENSMUST00000163300] [ENSMUST00000108787]

AlphaFold

Q99LX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020719
AA Change: N29S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020719
Gene: ENSMUSG00000020441
AA Change: N29S

Domain	Start	End	E-Value	Type
Pfam:MMtag	8	83	5.7e-34	PFAM
low complexity region	117	135	N/A	INTRINSIC
low complexity region	180	208	N/A	INTRINSIC
low complexity region	215	224	N/A	INTRINSIC
low complexity region	250	260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045697

SMART Domains

Protein: ENSMUSP00000048814
Gene: ENSMUSG00000036860

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	6	124	9.7e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061242

SMART Domains

Protein: ENSMUSP00000079905
Gene: ENSMUSG00000048076

Domain	Start	End	E-Value	Type
ARF	1	181	2.34e-143	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000101158

Predicted Effect

probably benign
Transcript: ENSMUST00000108784

SMART Domains

Protein: ENSMUSP00000104412
Gene: ENSMUSG00000036860

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	16	131	6.6e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108785

SMART Domains

Protein: ENSMUSP00000104413
Gene: ENSMUSG00000036860

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	6	124	9.7e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108786

SMART Domains

Protein: ENSMUSP00000104414
Gene: ENSMUSG00000036860

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	13	131	4.4e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163300

SMART Domains

Protein: ENSMUSP00000126120
Gene: ENSMUSG00000048076

Domain	Start	End	E-Value	Type
ARF	1	181	2.34e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108787

SMART Domains

Protein: ENSMUSP00000104415
Gene: ENSMUSG00000036860

Domain	Start	End	E-Value	Type
Pfam:Mitoc_L55	13	131	4.4e-55	PFAM

Meta Mutation Damage Score

0.6236

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1b1	T	C	11: 4,965,737 (GRCm39)	V92A	possibly damaging	Het
Asgr1	G	A	11: 69,947,075 (GRCm39)	R66Q	probably benign	Het
Atp8b4	T	A	2: 126,200,780 (GRCm39)	Q796L	probably damaging	Het
Camk4	A	C	18: 33,315,394 (GRCm39)	D307A	probably damaging	Het
Catsperb	T	A	12: 101,447,041 (GRCm39)	I223K	probably benign	Het
Ccdc80	A	G	16: 44,938,468 (GRCm39)	Y725C	probably damaging	Het
Cep164	T	A	9: 45,679,876 (GRCm39)	Q1119L	probably damaging	Het
Cep85l	G	A	10: 53,224,714 (GRCm39)	P292S	probably damaging	Het
Cfap53	A	G	18: 74,462,576 (GRCm39)		probably null	Het
Cilk1	C	T	9: 78,038,769 (GRCm39)	T6M	probably benign	Het
Cts8	C	A	13: 61,399,545 (GRCm39)	C138F	probably damaging	Het
Dis3l	C	A	9: 64,246,894 (GRCm39)	E54*	probably null	Het
Dnaja1	T	A	4: 40,732,853 (GRCm39)	D367E	probably benign	Het
Duoxa2	T	C	2: 122,129,655 (GRCm39)	I45T	probably damaging	Het
EU599041	C	T	7: 42,875,333 (GRCm39)		noncoding transcript	Het
Exoc5	T	C	14: 49,252,936 (GRCm39)	M561V	probably benign	Het
Fam184a	T	C	10: 53,514,290 (GRCm39)	I296V	probably damaging	Het
Fbxl18	C	T	5: 142,864,516 (GRCm39)	V686M	probably damaging	Het
Fryl	A	G	5: 73,222,318 (GRCm39)	S2088P	probably damaging	Het
Fus	G	A	7: 127,584,706 (GRCm39)		probably benign	Het
Gpr183	T	A	14: 122,191,727 (GRCm39)	I265L	probably benign	Het
Herc1	T	G	9: 66,347,183 (GRCm39)	L2013V	probably benign	Het
Iqca1	T	C	1: 90,009,066 (GRCm39)	K430R	probably benign	Het
Iqca1l	C	T	5: 24,759,524 (GRCm39)	G82E	probably damaging	Het
Itpripl2	A	G	7: 118,090,500 (GRCm39)	C20R	probably damaging	Het
Kmt2c	C	A	5: 25,492,110 (GRCm39)	C852F	probably damaging	Het
Lamb1	A	T	12: 31,368,466 (GRCm39)	K1199*	probably null	Het
Lrba	A	G	3: 86,211,643 (GRCm39)	Y421C	probably damaging	Het
Lrig2	A	G	3: 104,375,914 (GRCm39)	L96P	probably benign	Het
Mcc	A	G	18: 44,945,145 (GRCm39)	F29S	possibly damaging	Het
Mlh1	T	C	9: 111,087,634 (GRCm39)		probably benign	Het
Pals1	T	C	12: 78,866,145 (GRCm39)		probably benign	Het
Rbm33	A	G	5: 28,599,228 (GRCm39)	T867A	unknown	Het
Sdk1	T	A	5: 142,032,047 (GRCm39)	S1041T	probably benign	Het
Serpinb2	A	G	1: 107,451,694 (GRCm39)		probably null	Het
Serpinb9d	A	G	13: 33,387,030 (GRCm39)	N366S	possibly damaging	Het
Sf3b1	A	G	1: 55,046,792 (GRCm39)	S251P	probably benign	Het
Slc45a1	T	C	4: 150,722,708 (GRCm39)	Y392C	probably benign	Het
Tlr4	T	A	4: 66,758,220 (GRCm39)	C338S	possibly damaging	Het
Trio	A	G	15: 27,824,061 (GRCm39)		probably null	Het
Vnn1	A	T	10: 23,773,299 (GRCm39)	I109L	probably benign	Het
Wnk1	A	G	6: 119,925,528 (GRCm39)	V1312A	probably benign	Het
Zbed6	A	G	1: 133,585,817 (GRCm39)	S507P	probably damaging	Het
Zfp28	A	G	7: 6,397,497 (GRCm39)	H644R	probably damaging	Het
Zfp286	A	G	11: 62,671,287 (GRCm39)	V262A	probably damaging	Het
Zfp292	A	T	4: 34,807,962 (GRCm39)	M1694K	probably benign	Het

Other mutations in 2310033P09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:2310033P09Rik	APN	11	59,099,674 (GRCm39)	missense	probably damaging	0.99
PIT4378001:2310033P09Rik	UTSW	11	59,099,802 (GRCm39)	missense	probably benign	0.04
R1476:2310033P09Rik	UTSW	11	59,099,528 (GRCm39)	unclassified	probably benign
R1834:2310033P09Rik	UTSW	11	59,099,313 (GRCm39)	missense	probably damaging	1.00
R5120:2310033P09Rik	UTSW	11	59,101,061 (GRCm39)	missense	probably benign
R6025:2310033P09Rik	UTSW	11	59,101,139 (GRCm39)	frame shift	probably null
R7657:2310033P09Rik	UTSW	11	59,099,337 (GRCm39)	missense	possibly damaging	0.88
R9112:2310033P09Rik	UTSW	11	59,100,806 (GRCm39)	missense	possibly damaging	0.85
Z1190:2310033P09Rik	UTSW	11	59,099,193 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GATTGATAAGGCCCTCGGATAC -3'
(R):5'- GGAATGCTCATCAAGGGTCTG -3'

Sequencing Primer
(F):5'- CGGGCACGTTAGCGAGAG -3'
(R):5'- TGTGCCCCGCCCACATC -3'

Posted On

2014-10-02