Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:9330182L06Rik'

388531

Institutional Source

Beutler Lab

Gene Symbol

9330182L06Rik

Ensembl Gene

ENSMUSG00000056004

Gene Name

RIKEN cDNA 9330182L06 gene

Synonyms

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9266118-9481825 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9440897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 636 (C636S)

Ref Sequence

ENSEMBL: ENSMUSP00000121757 (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: C636S

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

SMART Domains

Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: C636S

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

probably benign
Transcript: ENSMUST00000115348

SMART Domains

Protein: ENSMUSP00000111005
Gene: ENSMUSG00000056004

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134991
AA Change: C636S

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

SMART Domains

Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: C636S

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 benign
Transcript: ENSMUST00000154662

SMART Domains

Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155764

SMART Domains

Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	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
R1398:9330182L06Rik	UTSW	5	9380297	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
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'- TTGCACTCCAAGGCAGATG -3'
(R):5'- TGAGAATTGCAGAGCATTTTCC -3'

Sequencing Primer
(F):5'- TGCTCTCTTTCTAGAACAGACG -3'
(R):5'- GCAGAGCATTTTCCAGCATCGATAG -3'

Posted On

2016-06-06