Mutagenetix > Incidental Mutation

Incidental Mutation 'BB001:G530012D18Rik'

642066

Institutional Source

Beutler Lab

Gene Symbol

G530012D18Rik

Ensembl Gene

ENSMUSG00000094127

Gene Name

RIKEN cDNA G530012D1 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

BB001

Quality Score

116.008

Status

Not validated

Chromosome

Chromosomal Location

85503397-85505016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 85504935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 113 (D113E)

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

unknown
Transcript: ENSMUST00000178024
AA Change: D113E

SMART Domains

Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127
AA Change: D113E

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,383,281 (GRCm39)	K2155E	possibly damaging	Het
Adgre5	G	A	8: 84,456,029 (GRCm39)	P256S	possibly damaging	Het
Adipor1	T	A	1: 134,353,731 (GRCm39)	V172D	probably damaging	Het
Ahsa1	T	C	12: 87,317,230 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,622,641 (GRCm39)	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,658,602 (GRCm39)	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,605,515 (GRCm39)	S65P	unknown	Het
Bbx	A	T	16: 50,044,671 (GRCm39)	L630H	probably damaging	Het
Cars1	T	C	7: 143,123,608 (GRCm39)	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,486,824 (GRCm39)	H450Q	probably benign	Het
Cdt1	T	C	8: 123,296,091 (GRCm39)	L135P	probably damaging	Het
Cfap206	T	A	4: 34,728,833 (GRCm39)	H24L	probably benign	Het
Cilk1	T	C	9: 78,062,746 (GRCm39)	L260P	probably damaging	Het
Cnga4	T	A	7: 105,057,028 (GRCm39)	V480E	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,449 (GRCm39)	T271I	possibly damaging	Het
Dlc1	T	C	8: 37,038,570 (GRCm39)	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,258,590 (GRCm39)	D1927G	probably benign	Het
Dscc1	A	T	15: 54,945,572 (GRCm39)	D374E	probably benign	Het
Eci2	G	A	13: 35,177,053 (GRCm39)	Q69*	probably null	Het
Ep300	C	A	15: 81,533,703 (GRCm39)	P1920Q	unknown	Het
Epha5	A	G	5: 84,232,705 (GRCm39)	Y629H	possibly damaging	Het
Fat2	G	A	11: 55,153,613 (GRCm39)	T3533I	probably benign	Het
Fat3	T	C	9: 15,910,593 (GRCm39)	N1803S	probably damaging	Het
Fcrl2	T	C	3: 87,166,840 (GRCm39)	Y51C	probably damaging	Het
Gcnt2	A	T	13: 41,072,040 (GRCm39)	K228*	probably null	Het
Gucy2c	A	T	6: 136,740,053 (GRCm39)	V258E	probably benign	Het
Hecw1	C	A	13: 14,497,113 (GRCm39)	L298F	probably damaging	Het
Hydin	T	G	8: 111,145,103 (GRCm39)	V818G	possibly damaging	Het
Hykk	A	G	9: 54,829,524 (GRCm39)	Y131C	probably damaging	Het
Mpo	A	G	11: 87,685,666 (GRCm39)	D48G	probably damaging	Het
Mrps10	T	C	17: 47,689,208 (GRCm39)	*202Q	probably null	Het
Mrps14	T	C	1: 160,024,559 (GRCm39)	V30A	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Muc2	G	T	7: 141,281,631 (GRCm39)	G497W	probably damaging	Het
Nnt	A	T	13: 119,523,181 (GRCm39)	V237D	probably damaging	Het
Nox4	G	T	7: 87,023,589 (GRCm39)	V492L	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Or5ak23	T	C	2: 85,244,563 (GRCm39)	Y220C	probably benign	Het
Or6aa1	A	G	7: 86,043,938 (GRCm39)	I256T	probably damaging	Het
Pard3	A	G	8: 128,137,231 (GRCm39)	N861S	probably benign	Het
Pdlim4	G	A	11: 53,946,048 (GRCm39)	R230*	probably null	Het
Pinlyp	C	T	7: 24,241,550 (GRCm39)	V159M	possibly damaging	Het
Pla2g4d	T	C	2: 120,119,645 (GRCm39)		probably benign	Het
Plcb1	A	T	2: 135,201,613 (GRCm39)	T855S	probably benign	Het
Pot1a	T	A	6: 25,753,309 (GRCm39)	D409V	possibly damaging	Het
Prom1	T	C	5: 44,187,111 (GRCm39)	D382G	probably benign	Het
Prss16	A	T	13: 22,192,834 (GRCm39)	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,804,884 (GRCm39)	D133G	probably benign	Het
Rasef	C	T	4: 73,659,166 (GRCm39)		probably null	Het
Rbak	A	G	5: 143,160,241 (GRCm39)	S271P	probably damaging	Het
Rbm20	A	T	19: 53,666,016 (GRCm39)	I60F	possibly damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Serpinb3c	A	G	1: 107,200,904 (GRCm39)	L171P	probably damaging	Het
Slc25a19	T	C	11: 115,506,376 (GRCm39)	Y211C	unknown	Het
Sorbs2	C	T	8: 46,248,507 (GRCm39)	S586L	probably damaging	Het
Spesp1	A	T	9: 62,180,733 (GRCm39)	S58R	probably benign	Het
Spryd3	A	G	15: 102,026,762 (GRCm39)	I329T	probably benign	Het
St8sia2	G	A	7: 73,616,700 (GRCm39)	L113F	probably damaging	Het
Star	T	C	8: 26,299,883 (GRCm39)	I75T	possibly damaging	Het
Tasor2	A	T	13: 3,644,331 (GRCm39)	F129Y	possibly damaging	Het
Tdrd6	T	A	17: 43,938,697 (GRCm39)	I784F	possibly damaging	Het
Tex55	G	A	16: 38,632,826 (GRCm39)	Q369*	probably null	Het
Tsc22d4	A	G	5: 137,766,273 (GRCm39)	I144V	unknown	Het
Tspan8	T	C	10: 115,669,229 (GRCm39)		probably null	Het
Ttll9	C	T	2: 152,804,407 (GRCm39)		probably benign	Het
Ubr4	T	G	4: 139,194,587 (GRCm39)	L1160R	unknown	Het
Ufd1	A	G	16: 18,642,035 (GRCm39)	Y162C	possibly damaging	Het
Unc13c	A	T	9: 73,641,690 (GRCm39)	F1268I	probably benign	Het
Uvssa	T	C	5: 33,568,295 (GRCm39)	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,434,254 (GRCm39)	S817T	probably damaging	Het
Ybx1	T	C	4: 119,139,476 (GRCm39)	E173G	probably damaging	Het
Zc3h6	T	C	2: 128,857,400 (GRCm39)	S640P	possibly damaging	Het

Other mutations in G530012D18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
BB003:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
BB005:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
BB006:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
BB011:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
BB013:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
BB015:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
BB016:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
FR4340:G530012D18Rik	UTSW	1	85,504,873 (GRCm39)	small deletion	probably benign
FR4449:G530012D18Rik	UTSW	1	85,504,901 (GRCm39)	small deletion	probably benign
FR4737:G530012D18Rik	UTSW	1	85,504,899 (GRCm39)	frame shift	probably null
IGL03050:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
PIT4142001:G530012D18Rik	UTSW	1	85,504,925 (GRCm39)	utr 3 prime	probably benign
R0707:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R0730:G530012D18Rik	UTSW	1	85,504,757 (GRCm39)	utr 3 prime	probably benign
R0819:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R1053:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R1155:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R1236:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R1245:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R1880:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R1961:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R2033:G530012D18Rik	UTSW	1	85,504,875 (GRCm39)	frame shift	probably null
R2055:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R2510:G530012D18Rik	UTSW	1	85,504,925 (GRCm39)	utr 3 prime	probably benign
R2903:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R2989:G530012D18Rik	UTSW	1	85,504,937 (GRCm39)	frame shift	probably null
R3000:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R3757:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R3914:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null
R4358:G530012D18Rik	UTSW	1	85,504,923 (GRCm39)	utr 3 prime	probably benign
R4407:G530012D18Rik	UTSW	1	85,504,923 (GRCm39)	utr 3 prime	probably benign
R4417:G530012D18Rik	UTSW	1	85,504,923 (GRCm39)	utr 3 prime	probably benign
R5086:G530012D18Rik	UTSW	1	85,504,941 (GRCm39)	utr 3 prime	probably benign
R5389:G530012D18Rik	UTSW	1	85,504,923 (GRCm39)	utr 3 prime	probably benign
R7212:G530012D18Rik	UTSW	1	85,504,864 (GRCm39)	missense	unknown
R7823:G530012D18Rik	UTSW	1	85,504,923 (GRCm39)	utr 3 prime	probably benign
R7924:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R7926:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R7927:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R7928:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R7929:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8162:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8163:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8164:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8263:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8264:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8265:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8491:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8492:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8524:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8742:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
R8744:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
X0023:G530012D18Rik	UTSW	1	85,504,945 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGGACATCGTGAGCGTGTAC -3'
(R):5'- ACAGGTGTTTCCTAAAGGGG -3'

Sequencing Primer
(F):5'- ATCGTGAGCGTGTACCACAGTG -3'
(R):5'- GGGGGAAACATCAATATTCACAAG -3'

Posted On

2020-08-01