Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:9330182L06Rik'

160224

Institutional Source

Beutler Lab

Gene Symbol

9330182L06Rik

Ensembl Gene

ENSMUSG00000056004

Gene Name

RIKEN cDNA 9330182L06 gene

Synonyms

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9266118-9481825 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9380297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 69 (Y69C)

Ref Sequence

ENSEMBL: ENSMUSP00000120849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069538] [ENSMUST00000115348] [ENSMUST00000134991] [ENSMUST00000152095] [ENSMUST00000154662] [ENSMUST00000155764]

AlphaFold

Q3UZV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000069538
AA Change: Y69C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: Y69C

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
internal_repeat_1	58	334	1.12e-7	PROSPERO
internal_repeat_1	343	665	1.12e-7	PROSPERO
transmembrane domain	926	948	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104703

Predicted Effect

probably damaging
Transcript: ENSMUST00000115348
AA Change: Y69C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111005
Gene: ENSMUSG00000056004
AA Change: Y69C

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
low complexity region	213	224	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131626

Predicted Effect

probably damaging
Transcript: ENSMUST00000134991
AA Change: Y69C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: Y69C

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
internal_repeat_1	58	334	9.82e-8	PROSPERO
internal_repeat_1	343	665	9.82e-8	PROSPERO
transmembrane domain	926	948	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152095

SMART Domains

Protein: ENSMUSP00000116440
Gene: ENSMUSG00000056004

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000154662
AA Change: Y69C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004
AA Change: Y69C

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155764
AA Change: Y69C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: Y69C

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
internal_repeat_1	58	180	5.47e-6	PROSPERO
internal_repeat_1	343	476	5.47e-6	PROSPERO

Meta Mutation Damage Score

0.3952

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	T	1: 26,685,341	Q253K	possibly damaging	Het
Abca17	T	C	17: 24,328,537	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,256,736		probably null	Het
Anks1b	A	G	10: 90,050,029	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,295,296		probably benign	Het
C4b	T	A	17: 34,730,719		probably benign	Het
Cacna2d1	G	A	5: 16,357,766	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,781,971		probably benign	Het
Cep63	A	T	9: 102,603,086		probably benign	Het
Chil4	T	A	3: 106,219,509		probably null	Het
Cnot11	A	G	1: 39,545,180	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,638,625	S254P	probably damaging	Het
Dnah11	T	A	12: 118,057,106	K87*	probably null	Het
Dpy19l2	T	A	9: 24,581,263		probably benign	Het
Dsc1	A	T	18: 20,088,336	I694N	probably damaging	Het
Ehd4	A	T	2: 120,127,600	I168K	probably benign	Het
Eif4e	A	T	3: 138,546,375	N25Y	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam160b1	T	A	19: 57,372,926		probably benign	Het
Fgfrl1	T	A	5: 108,706,281		probably benign	Het
Gm3159	T	A	14: 4,398,586	Y92*	probably null	Het
Gm4922	T	A	10: 18,783,748	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,714,262		probably benign	Het
Grsf1	A	G	5: 88,665,847	Y231H	probably benign	Het
Heatr4	T	A	12: 83,967,621	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Isg20l2	C	A	3: 87,938,754	L325I	probably benign	Het
Kalrn	A	G	16: 34,212,820	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,436,226	W318L	probably damaging	Het
Kctd1	T	C	18: 15,062,597	E323G	possibly damaging	Het
Kif4	G	T	X: 100,689,097	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,627,732	T151A	unknown	Het
Ldlr	A	T	9: 21,739,542	Q449L	probably benign	Het
Lepr	T	A	4: 101,792,019	D872E	probably damaging	Het
Lgals12	C	T	19: 7,603,957		probably benign	Het
Lrig3	C	T	10: 126,003,088	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,462,452	I583L	probably benign	Het
Lyst	T	C	13: 13,740,536	S3272P	possibly damaging	Het
March2	T	C	17: 33,696,122	H166R	probably damaging	Het
Mtbp	C	A	15: 55,577,537	Y373*	probably null	Het
Myh2	C	T	11: 67,185,287	H767Y	probably benign	Het
Ncam1	G	A	9: 49,517,589		probably benign	Het
Neb	T	A	2: 52,289,646	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,448,756	Y428H	possibly damaging	Het
Nrros	A	T	16: 32,143,144	I649N	probably damaging	Het
Nvl	A	T	1: 181,097,126		probably benign	Het
Olfr495	T	A	7: 108,395,501	V127E	probably damaging	Het
Pms1	A	T	1: 53,207,276	V368E	possibly damaging	Het
Polq	T	A	16: 37,062,495	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,542,879	V31A	probably damaging	Het
Rev3l	T	A	10: 39,821,583	V692E	probably benign	Het
Robo4	T	C	9: 37,408,076		probably null	Het
Rps6kc1	T	C	1: 190,800,015	I597V	probably damaging	Het
Rtel1	T	A	2: 181,335,865		probably null	Het
Scn9a	A	G	2: 66,484,586	M1587T	probably benign	Het
Sec31b	T	A	19: 44,523,665	I597F	probably benign	Het
Skint5	T	C	4: 113,779,071	N650S	unknown	Het
Slc22a28	G	T	19: 8,130,202	S167*	probably null	Het
Slfn1	T	A	11: 83,121,142	M28K	probably damaging	Het
Smc6	T	C	12: 11,271,879		probably benign	Het
Sox8	T	C	17: 25,567,883	H282R	probably benign	Het
Syngr3	C	A	17: 24,686,440	V161L	probably benign	Het
Trak1	C	T	9: 121,454,359	S397F	probably damaging	Het
Uso1	C	T	5: 92,181,468	A405V	probably benign	Het
Uvrag	G	T	7: 99,065,820	Y190*	probably null	Het
Vps13d	A	T	4: 145,099,983	L1726Q	probably null	Het
Vwf	A	T	6: 125,603,457	Q556L	probably benign	Het
Wdr70	T	A	15: 8,035,844	M246L	probably benign	Het
Yipf3	T	C	17: 46,251,446	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,826,873	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,627,297	F125L	probably benign	Het

Other mutations in 9330182L06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:9330182L06Rik	APN	5	9422367	missense	probably damaging	0.99
IGL00909:9330182L06Rik	APN	5	9380282	missense	probably damaging	1.00
IGL01477:9330182L06Rik	APN	5	9437756	missense	probably damaging	1.00
IGL02486:9330182L06Rik	APN	5	9422323	missense	probably benign	0.00
IGL02863:9330182L06Rik	APN	5	9461399	nonsense	probably null
IGL02939:9330182L06Rik	APN	5	9461478	missense	probably damaging	1.00
IGL03039:9330182L06Rik	APN	5	9418055	missense	probably benign	0.12
IGL03395:9330182L06Rik	APN	5	9422359	missense	probably damaging	0.97
R0063:9330182L06Rik	UTSW	5	9440709	intron	probably benign
R0063:9330182L06Rik	UTSW	5	9440709	intron	probably benign
R0193:9330182L06Rik	UTSW	5	9422359	missense	probably damaging	0.97
R0265:9330182L06Rik	UTSW	5	9434681	missense	probably damaging	1.00
R0398:9330182L06Rik	UTSW	5	9445367	missense	probably benign	0.00
R0432:9330182L06Rik	UTSW	5	9440966	nonsense	probably null
R0494:9330182L06Rik	UTSW	5	9420723	critical splice donor site	probably null
R0736:9330182L06Rik	UTSW	5	9441745	missense	probably damaging	1.00
R0850:9330182L06Rik	UTSW	5	9417993	missense	probably damaging	1.00
R1709:9330182L06Rik	UTSW	5	9440726	nonsense	probably null
R1720:9330182L06Rik	UTSW	5	9428407	missense	probably damaging	1.00
R1770:9330182L06Rik	UTSW	5	9418021	missense	probably benign	0.01
R1782:9330182L06Rik	UTSW	5	9421620	missense	possibly damaging	0.62
R1803:9330182L06Rik	UTSW	5	9427832	missense	probably benign	0.05
R1868:9330182L06Rik	UTSW	5	9479251	missense	probably damaging	1.00
R1870:9330182L06Rik	UTSW	5	9418007	missense	probably damaging	0.97
R1871:9330182L06Rik	UTSW	5	9418007	missense	probably damaging	0.97
R1913:9330182L06Rik	UTSW	5	9266275	missense	probably damaging	0.97
R2054:9330182L06Rik	UTSW	5	9463030	missense	possibly damaging	0.81
R2170:9330182L06Rik	UTSW	5	9479206	missense	probably damaging	1.00
R2381:9330182L06Rik	UTSW	5	9380342	missense	probably damaging	1.00
R2396:9330182L06Rik	UTSW	5	9435395	missense	possibly damaging	0.92
R4003:9330182L06Rik	UTSW	5	9440877	missense	probably benign	0.05
R5030:9330182L06Rik	UTSW	5	9428502	missense	probably damaging	1.00
R5049:9330182L06Rik	UTSW	5	9428488	missense	probably damaging	1.00
R5069:9330182L06Rik	UTSW	5	9440897	missense	probably damaging	1.00
R5219:9330182L06Rik	UTSW	5	9461486	missense	probably damaging	1.00
R5400:9330182L06Rik	UTSW	5	9479247	missense	probably damaging	1.00
R5555:9330182L06Rik	UTSW	5	9422296	splice site	probably null
R5593:9330182L06Rik	UTSW	5	9266350	missense	probably benign	0.07
R5681:9330182L06Rik	UTSW	5	9459308	critical splice donor site	probably null
R5707:9330182L06Rik	UTSW	5	9441698	missense	probably damaging	1.00
R5756:9330182L06Rik	UTSW	5	9462995	missense	probably damaging	0.98
R6087:9330182L06Rik	UTSW	5	9399255	missense	probably damaging	1.00
R6252:9330182L06Rik	UTSW	5	9410693	missense	probably damaging	1.00
R7067:9330182L06Rik	UTSW	5	9266295	missense	possibly damaging	0.81
R7078:9330182L06Rik	UTSW	5	9410709	missense	probably benign	0.10
R7079:9330182L06Rik	UTSW	5	9399253	missense	probably damaging	1.00
R7117:9330182L06Rik	UTSW	5	9445384	nonsense	probably null
R7265:9330182L06Rik	UTSW	5	9446975	missense	possibly damaging	0.65
R7996:9330182L06Rik	UTSW	5	9462881	missense	probably damaging	1.00
R8199:9330182L06Rik	UTSW	5	9420657	missense	probably damaging	1.00
R8246:9330182L06Rik	UTSW	5	9446966	missense	probably benign	0.07
R8928:9330182L06Rik	UTSW	5	9446979	missense	possibly damaging	0.86
R8935:9330182L06Rik	UTSW	5	9441764	missense	probably damaging	1.00
R8963:9330182L06Rik	UTSW	5	9437792	missense	probably damaging	1.00
R9140:9330182L06Rik	UTSW	5	9399226	missense	probably benign	0.00
R9244:9330182L06Rik	UTSW	5	9410700	missense	probably damaging	1.00
R9272:9330182L06Rik	UTSW	5	9410699	missense	probably damaging	0.99
R9395:9330182L06Rik	UTSW	5	9427822	missense	probably benign	0.19
R9548:9330182L06Rik	UTSW	5	9440859	missense	probably damaging	1.00
X0019:9330182L06Rik	UTSW	5	9399231	missense	probably damaging	0.97
X0052:9330182L06Rik	UTSW	5	9440908	missense	possibly damaging	0.87
X0063:9330182L06Rik	UTSW	5	9399239	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCAGCTACTTAGATCCCAAGCCC -3'
(R):5'- TACACTGTCGCCAGGTCTCTTGTG -3'

Sequencing Primer
(F):5'- GCTGTAGTGTTTCAGAAGATAGAC -3'
(R):5'- CACAACATACTGCATTCTTTGCCTT -3'

Posted On

2014-03-14