Mutagenetix > Incidental Mutations

Incidental Mutation 'R1245:G530012D18Rik'

152110

Institutional Source

Beutler Lab

Gene Symbol

G530012D18Rik

Ensembl Gene

ENSMUSG00000094127

Gene Name

RIKEN cDNA G530012D1 gene

Synonyms

MMRRC Submission

039312-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R1245 (G1)

Quality Score

110

Status

Validated

Chromosome

Chromosomal Location

85575676-85577295 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAGAGAGA to CAGAGAGAGA at 85577224 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136816 (fasta)

Gene Model

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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,169,410		probably benign	Het
Ahnak	A	G	19: 9,004,169	N939S	probably benign	Het
Cblb	C	A	16: 52,047,187		probably benign	Het
Cd22	A	G	7: 30,869,883	S603P	probably damaging	Het
Col6a6	G	A	9: 105,748,910	R1515C	possibly damaging	Het
Csf1r	C	A	18: 61,114,812	D317E	probably benign	Het
Dlg2	T	C	7: 92,442,595		probably benign	Het
Enpp3	G	A	10: 24,784,953		probably benign	Het
Gm5828	A	T	1: 16,769,129		noncoding transcript	Het
Gpr137c	T	C	14: 45,279,065		probably benign	Het
Ibtk	A	G	9: 85,720,742		probably null	Het
Kctd7	A	G	5: 130,148,217	H96R	possibly damaging	Het
Lmcd1	T	A	6: 112,315,712	V175E	probably benign	Het
Lrfn2	A	T	17: 49,096,249		probably null	Het
Ltbp1	C	T	17: 75,327,194		probably benign	Het
Myc	A	G	15: 61,987,897	I140V	probably damaging	Het
Nckap1l	A	G	15: 103,455,925	E100G	probably damaging	Het
Ncs1	A	G	2: 31,284,693	N143S	probably benign	Het
Nmnat2	A	G	1: 153,112,203	D238G	probably benign	Het
Olfr1122	T	A	2: 87,388,209	V168E	probably benign	Het
Ppp2r3a	G	A	9: 101,194,394	T675I	probably damaging	Het
Psma2	A	G	13: 14,613,291	Y6C	probably damaging	Het
Rspo4	G	A	2: 151,867,926	E84K	probably damaging	Het
Shank2	G	A	7: 144,411,720	V1015I	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Smg8	T	C	11: 87,083,610	D632G	possibly damaging	Het
Sppl2a	A	T	2: 126,913,521		probably benign	Het
Svep1	A	G	4: 58,066,427		probably null	Het
Ttn	T	A	2: 76,945,700	K1666M	probably damaging	Het
Ulk1	A	G	5: 110,789,340		probably null	Het
Unc80	A	G	1: 66,555,095	D1211G	possibly damaging	Het
Vmn2r112	A	G	17: 22,603,247	Q302R	probably benign	Het
Vmn2r6	A	G	3: 64,556,790	S208P	possibly damaging	Het
Wnk1	C	T	6: 119,948,457	V1847I	probably benign	Het
Zfp653	A	T	9: 22,056,422	I529N	probably damaging	Het
Zfp948	T	C	17: 21,586,842	S99P	probably damaging	Het
Zfyve9	A	G	4: 108,693,311		probably benign	Het
Zscan29	T	C	2: 121,166,503	T246A	probably damaging	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
R1880:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R1961:G530012D18Rik	UTSW	1	85577224	frame shift	probably null
R2033:G530012D18Rik	UTSW	1	85577154	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
X0023:G530012D18Rik	UTSW	1	85577224	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACATCGTGAGCGTGTACCACAG -3'
(R):5'- GGGTTTTACCTGGAGAGGATGAACG -3'

Sequencing Primer
(F):5'- CTGGGTCAGTTGTGATGAGGAC -3'
(R):5'- GAGTTACCTTATCACTAAGGGGAAAC -3'

Posted On

2014-01-29