Mutagenetix > Incidental Mutations

Incidental Mutation 'R1412:9030624J02Rik'

159634

Institutional Source

Beutler Lab

Gene Symbol

9030624J02Rik

Ensembl Gene

ENSMUSG00000030982

Gene Name

RIKEN cDNA 9030624J02 gene

Synonyms

MMRRC Submission

039468-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R1412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118740226-118842966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118809971 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 612 (I612F)

Ref Sequence

ENSEMBL: ENSMUSP00000102162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033280] [ENSMUST00000059390] [ENSMUST00000106552] [ENSMUST00000106553]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033280
AA Change: I440F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000059390
AA Change: I703F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: I703F

Domain	Start	End	E-Value	Type
low complexity region	71	100	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106552
AA Change: I612F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: I612F

Domain	Start	End	E-Value	Type
low complexity region	47	76	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106553
AA Change: I652F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: I652F

Domain	Start	End	E-Value	Type
low complexity region	47	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149749

SMART Domains

Protein: ENSMUSP00000121323
Gene: ENSMUSG00000030982

Domain	Start	End	E-Value	Type
Pfam:Vps35	2	198	7.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176197

Meta Mutation Damage Score

0.234

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.5%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,889,995		probably benign	Het
Abca15	C	T	7: 120,345,323	R394C	possibly damaging	Het
Adamts9	T	C	6: 92,796,433	Q1152R	probably benign	Het
Adgrv1	C	T	13: 81,095,450	G6277E	probably damaging	Het
Agbl2	A	G	2: 90,788,954	N41S	probably benign	Het
Akap7	A	T	10: 25,289,597		probably null	Het
Arl6ip1	A	G	7: 118,120,368	I179T	possibly damaging	Het
Atp1a4	C	T	1: 172,232,009	D839N	probably damaging	Het
B3galt4	G	A	17: 33,950,839	R142C	probably damaging	Het
C1qtnf12	T	C	4: 155,962,733	V52A	probably benign	Het
C1qtnf2	A	G	11: 43,491,132	Y257C	probably damaging	Het
Cdc123	A	T	2: 5,803,965	D233E	possibly damaging	Het
Chdh	G	A	14: 30,034,723	E369K	probably benign	Het
D630045J12Rik	A	G	6: 38,195,760	V491A	probably benign	Het
Focad	T	C	4: 88,278,261		probably null	Het
Gabbr1	T	C	17: 37,054,913		probably null	Het
Hat1	G	T	2: 71,420,617	E170*	probably null	Het
Hs3st5	A	T	10: 36,832,676	H69L	probably benign	Het
Igsf10	T	C	3: 59,327,775		probably benign	Het
Itga2b	A	T	11: 102,457,005	L890Q	probably benign	Het
Olfr675	A	G	7: 105,024,195	F262L	probably damaging	Het
Olfr867	C	G	9: 20,055,415	G16A	possibly damaging	Het
Parp10	A	G	15: 76,243,084	L51P	probably damaging	Het
Pbld2	A	G	10: 63,047,522	T108A	probably damaging	Het
Pdlim2	A	T	14: 70,174,324		probably benign	Het
Pikfyve	T	C	1: 65,202,830	V243A	possibly damaging	Het
Pla2g12b	G	A	10: 59,403,982		probably null	Het
Raly	A	G	2: 154,857,395	T40A	possibly damaging	Het
Rasgrp3	G	T	17: 75,509,827		probably null	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Smim22	G	C	16: 5,007,785	E11D	possibly damaging	Het
Socs2	T	C	10: 95,414,918	S18G	probably benign	Het
Srgap2	T	C	1: 131,300,413	E720G	possibly damaging	Het
Tas2r135	A	G	6: 42,405,834	I102M	probably benign	Het
Tex19.2	A	G	11: 121,116,935	V229A	possibly damaging	Het
Vmn1r234	T	A	17: 21,229,250	I142N	probably benign	Het
Vwa3a	C	T	7: 120,780,154	T494I	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Zfhx3	A	G	8: 108,914,567	D1166G	possibly damaging	Het

Other mutations in 9030624J02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:9030624J02Rik	APN	7	118797047	critical splice donor site	probably null
IGL00229:9030624J02Rik	APN	7	118804191	splice site	probably benign
IGL01066:9030624J02Rik	APN	7	118773011	splice site	probably null
IGL01433:9030624J02Rik	APN	7	118774051	splice site	probably null
IGL02381:9030624J02Rik	APN	7	118775375	missense	probably damaging	1.00
IGL02566:9030624J02Rik	APN	7	118752832	missense	probably benign	0.04
IGL03199:9030624J02Rik	APN	7	118766388	missense	probably benign	0.18
IGL03224:9030624J02Rik	APN	7	118792553	unclassified	probably benign
R0535:9030624J02Rik	UTSW	7	118748181	missense	possibly damaging	0.95
R1109:9030624J02Rik	UTSW	7	118775329	missense	probably damaging	0.97
R1378:9030624J02Rik	UTSW	7	118794572	nonsense	probably null
R1378:9030624J02Rik	UTSW	7	118794573	missense	probably damaging	1.00
R1474:9030624J02Rik	UTSW	7	118760213	missense	probably damaging	1.00
R1586:9030624J02Rik	UTSW	7	118809972	missense	probably damaging	1.00
R1785:9030624J02Rik	UTSW	7	118794575	missense	probably damaging	1.00
R1786:9030624J02Rik	UTSW	7	118794575	missense	probably damaging	1.00
R1921:9030624J02Rik	UTSW	7	118833748	missense	probably damaging	0.98
R1971:9030624J02Rik	UTSW	7	118775334	missense	probably damaging	1.00
R2038:9030624J02Rik	UTSW	7	118811874	missense	probably damaging	0.98
R2107:9030624J02Rik	UTSW	7	118794539	unclassified	probably benign
R2130:9030624J02Rik	UTSW	7	118794575	missense	probably damaging	1.00
R2131:9030624J02Rik	UTSW	7	118794575	missense	probably damaging	1.00
R2132:9030624J02Rik	UTSW	7	118794575	missense	probably damaging	1.00
R2133:9030624J02Rik	UTSW	7	118794575	missense	probably damaging	1.00
R2405:9030624J02Rik	UTSW	7	118792595	missense	probably damaging	1.00
R2411:9030624J02Rik	UTSW	7	118792595	missense	probably damaging	1.00
R3910:9030624J02Rik	UTSW	7	118746390	missense	possibly damaging	0.86
R3911:9030624J02Rik	UTSW	7	118746390	missense	possibly damaging	0.86
R3912:9030624J02Rik	UTSW	7	118746390	missense	possibly damaging	0.86
R3971:9030624J02Rik	UTSW	7	118833799	missense	probably damaging	0.98
R4697:9030624J02Rik	UTSW	7	118791448	missense	probably damaging	1.00
R4964:9030624J02Rik	UTSW	7	118780268	missense	possibly damaging	0.84
R4980:9030624J02Rik	UTSW	7	118807009	missense	probably damaging	1.00
R5034:9030624J02Rik	UTSW	7	118791388	missense	probably damaging	0.99
R5309:9030624J02Rik	UTSW	7	118813576	missense	probably damaging	1.00
R5312:9030624J02Rik	UTSW	7	118813576	missense	probably damaging	1.00
R5743:9030624J02Rik	UTSW	7	118797011	missense	possibly damaging	0.89
R6017:9030624J02Rik	UTSW	7	118809921	missense	probably damaging	1.00
R6089:9030624J02Rik	UTSW	7	118746435	missense	possibly damaging	0.76
R6320:9030624J02Rik	UTSW	7	118753849	missense	probably benign	0.08
R6415:9030624J02Rik	UTSW	7	118792646	missense	probably damaging	1.00
R6861:9030624J02Rik	UTSW	7	118743675	missense	probably damaging	1.00
X0028:9030624J02Rik	UTSW	7	118800452	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGGACTTCTTGTCCTAGCCCAGAG -3'
(R):5'- AACGTAAGCCAAGCTGTGGACC -3'

Sequencing Primer
(F):5'- GGACATGAGACTTTCATAGTCAAG -3'
(R):5'- agaggcaggaggaccag -3'

Posted On

2014-03-14