Mutagenetix > Incidental Mutations

Incidental Mutation 'R2033:G530012D18Rik'

221438

Institutional Source

Beutler Lab

Gene Symbol

G530012D18Rik

Ensembl Gene

ENSMUSG00000094127

Gene Name

RIKEN cDNA G530012D1 gene

Synonyms

MMRRC Submission

040040-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R2033 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

85575676-85577295 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CACAGA to CA at 85577154 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093508] [ENSMUST00000178024]

AlphaFold

J3QK25

Predicted Effect

probably benign
Transcript: ENSMUST00000093508

SMART Domains

Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034

Domain	Start	End	E-Value	Type
Pfam:Sp100	8	106	2.3e-41	PFAM
low complexity region	242	254	N/A	INTRINSIC
low complexity region	259	269	N/A	INTRINSIC
SAND	360	433	3.55e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131950

Predicted Effect

probably null
Transcript: ENSMUST00000178024

SMART Domains

Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127

Domain	Start	End	E-Value	Type
low complexity region	1	10	N/A	INTRINSIC
low complexity region	82	122	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186740

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,456,383	T172A	probably benign	Het
Atp6v1c1	T	C	15: 38,673,966		probably null	Het
Bpifc	G	A	10: 86,000,632	T3I	possibly damaging	Het
Car12	A	G	9: 66,717,558		probably null	Het
Ccrl2	A	G	9: 111,055,870	F187L	possibly damaging	Het
Cep250	G	A	2: 155,970,892	R544H	probably damaging	Het
Col4a3	T	G	1: 82,718,011		probably benign	Het
Cyb5r2	T	C	7: 107,756,907		probably null	Het
Elfn2	A	G	15: 78,671,896	V817A	probably damaging	Het
Eln	C	T	5: 134,710,106		probably null	Het
Eml5	T	C	12: 98,791,386	E1896G	possibly damaging	Het
Galnt11	C	T	5: 25,247,538	T16I	probably damaging	Het
Gars	C	T	6: 55,077,723	H672Y	probably benign	Het
Gpr155	T	A	2: 73,348,182	H726L	probably benign	Het
Inpp1	T	A	1: 52,790,173	N229I	possibly damaging	Het
Isg20	A	C	7: 78,916,533	I77L	probably damaging	Het
Kit	G	C	5: 75,637,317	D422H	possibly damaging	Het
Lonp2	A	G	8: 86,708,942	E602G	possibly damaging	Het
Mink1	T	C	11: 70,612,508	V1143A	probably damaging	Het
Myh6	A	C	14: 54,963,645	L120R	probably benign	Het
Myo18a	T	A	11: 77,843,099		probably null	Het
Nphs2	T	C	1: 156,323,738	V249A	probably damaging	Het
Npsr1	A	G	9: 24,313,352	K342E	probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nudt18	G	T	14: 70,579,616	G162V	possibly damaging	Het
Odam	A	G	5: 87,892,419	D248G	probably benign	Het
Olfr1224-ps1	A	G	2: 89,157,154	V7A	probably damaging	Het
Olfr147	G	T	9: 38,403,373	M166I	probably damaging	Het
Olfr390	T	C	11: 73,787,438	S167P	probably benign	Het
Olfr557	A	G	7: 102,699,162	E308G	probably benign	Het
Olfr572	T	C	7: 102,928,408	V260A	probably benign	Het
Pde4b	G	T	4: 102,605,295	D723Y	probably benign	Het
Pdzrn3	T	C	6: 101,150,954	E917G	probably damaging	Het
Ppip5k1	C	T	2: 121,337,627	R715H	probably damaging	Het
Prkdc	T	A	16: 15,687,352		probably benign	Het
Ptp4a3	A	G	15: 73,753,769	Y21C	probably damaging	Het
Ptprk	C	A	10: 28,592,767		probably benign	Het
Rfesd	C	A	13: 76,002,872		probably null	Het
Rtel1	A	T	2: 181,351,863	K592*	probably null	Het
Siah1a	T	A	8: 86,725,270	K195N	probably damaging	Het
Slc5a5	G	T	8: 70,888,587	D369E	probably damaging	Het
Slc6a6	A	T	6: 91,724,910	I100F	probably benign	Het
Smtn	T	C	11: 3,517,781	I913V	probably benign	Het
Stk17b	A	G	1: 53,761,076	S248P	probably damaging	Het
Sun1	C	T	5: 139,225,438	H149Y	probably damaging	Het
Taar5	T	C	10: 23,971,094	I130T	possibly damaging	Het
Tmem132b	G	T	5: 125,749,289	V448F	probably damaging	Het
Tmem94	C	A	11: 115,794,328	N888K	possibly damaging	Het
Trpc1	T	C	9: 95,706,843	N742S	probably damaging	Het
Ttbk2	T	C	2: 120,806,849	T112A	probably damaging	Het
Tubb2a	A	T	13: 34,075,456	L117Q	probably damaging	Het
Vmn1r60	T	A	7: 5,544,820	M94L	probably benign	Het
Vmn2r83	A	G	10: 79,491,819	T754A	probably benign	Het

Other mutations in G530012D18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
BB001:G530012D18Rik	UTSW	1	85577214	missense	unknown
BB003:G530012D18Rik	UTSW	1	85577214	missense	unknown
BB005:G530012D18Rik	UTSW	1	85577214	missense	unknown
BB006:G530012D18Rik	UTSW	1	85577214	missense	unknown
BB011:G530012D18Rik	UTSW	1	85577214	missense	unknown
BB013:G530012D18Rik	UTSW	1	85577214	missense	unknown
BB015:G530012D18Rik	UTSW	1	85577214	missense	unknown
BB016:G530012D18Rik	UTSW	1	85577214	missense	unknown
FR4340:G530012D18Rik	UTSW	1	85577152	small deletion	probably benign
FR4449:G530012D18Rik	UTSW	1	85577180	small deletion	probably benign
FR4737:G530012D18Rik	UTSW	1	85577178	frame shift	probably null
IGL03050:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
PIT4142001:G530012D18Rik	UTSW	1	85577204	utr 3 prime	probably benign
R0707:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R0730:G530012D18Rik	UTSW	1	85577036	utr 3 prime	probably benign
R0819:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R1053:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R1155:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R1236:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R1245:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R1880:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R1961:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R2055:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R2510:G530012D18Rik	UTSW	1	85577204	utr 3 prime	probably benign
R2903:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R2989:G530012D18Rik	UTSW	1	85577216	frame shift	probably null
R3000:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R3757:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R3914:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R4358:G530012D18Rik	UTSW	1	85577202	utr 3 prime	probably benign
R4407:G530012D18Rik	UTSW	1	85577202	utr 3 prime	probably benign
R4417:G530012D18Rik	UTSW	1	85577202	utr 3 prime	probably benign
R5086:G530012D18Rik	UTSW	1	85577220	utr 3 prime	probably benign
R5389:G530012D18Rik	UTSW	1	85577202	utr 3 prime	probably benign
R7212:G530012D18Rik	UTSW	1	85577143	missense	unknown
R7823:G530012D18Rik	UTSW	1	85577202	utr 3 prime	probably benign
R7924:G530012D18Rik	UTSW	1	85577214	missense	unknown
R7926:G530012D18Rik	UTSW	1	85577214	missense	unknown
R7927:G530012D18Rik	UTSW	1	85577214	missense	unknown
R7928:G530012D18Rik	UTSW	1	85577214	missense	unknown
R7929:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8162:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8163:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8164:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8263:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8264:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8265:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8491:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8492:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8524:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8742:G530012D18Rik	UTSW	1	85577214	missense	unknown
R8744:G530012D18Rik	UTSW	1	85577214	missense	unknown
X0023:G530012D18Rik	UTSW	1	85577224	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CACTTTGCCATTGTAAGTCAGC -3'
(R):5'- ACTCCCAGAATAATCTCACTTGTC -3'

Sequencing Primer
(F):5'- GCCATTGTAAGTCAGCTGTGAAC -3'
(R):5'- AACCTCTTCTCTTTCAGAAAGGAC -3'

Posted On

2014-08-25