Mutagenetix > Incidental Mutation

Incidental Mutation 'R8263:G530012D18Rik'

639757

Institutional Source

Beutler Lab

Gene Symbol

G530012D18Rik

Ensembl Gene

ENSMUSG00000094127

Gene Name

RIKEN cDNA G530012D1 gene

Synonyms

MMRRC Submission

067688-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R8263 (G1)

Quality Score

144.008

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: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	T	A	1: 75,208,683 (GRCm39)	R12S	unknown	Het
Ankrd10	C	T	8: 11,665,707 (GRCm39)	V298I	probably benign	Het
Atg4d	T	A	9: 21,178,335 (GRCm39)	M151K	probably damaging	Het
Calhm5	C	A	10: 33,972,192 (GRCm39)	C81F	probably damaging	Het
Casp8ap2	T	A	4: 32,644,072 (GRCm39)	H1048Q	probably damaging	Het
Cd300ld2	A	G	11: 114,903,192 (GRCm39)	S218P	unknown	Het
Clec3a	T	C	8: 115,152,369 (GRCm39)	V125A	probably benign	Het
Cnot6	A	T	11: 49,573,002 (GRCm39)	Y241N	probably damaging	Het
Dnah1	A	T	14: 31,015,134 (GRCm39)	F1686Y	probably damaging	Het
Dnah12	A	G	14: 26,613,421 (GRCm39)	K1285E	noncoding transcript	Het
Dop1b	T	C	16: 93,559,083 (GRCm39)	S610P	possibly damaging	Het
Ehhadh	A	T	16: 21,592,295 (GRCm39)	L136H	probably damaging	Het
Epha7	A	G	4: 28,821,149 (GRCm39)	T105A	probably damaging	Het
Etl4	A	T	2: 20,748,965 (GRCm39)	E434D	probably benign	Het
Fastkd2	T	C	1: 63,770,968 (GRCm39)	V108A	probably benign	Het
Fat2	G	A	11: 55,174,962 (GRCm39)	T1917I	probably benign	Het
Fbxo45	A	G	16: 32,065,533 (GRCm39)	S33P	unknown	Het
Fig4	A	T	10: 41,143,711 (GRCm39)	Y249*	probably null	Het
Fryl	T	C	5: 73,238,348 (GRCm39)	Y1466C	probably damaging	Het
Glod4	T	C	11: 76,125,318 (GRCm39)	D147G	possibly damaging	Het
Gm12695	T	G	4: 96,651,046 (GRCm39)	M136L	probably benign	Het
Gm5422	A	G	10: 31,125,099 (GRCm39)	T313A	noncoding transcript	Het
Hydin	C	A	8: 111,178,705 (GRCm39)	A1100D	probably benign	Het
Ift172	G	A	5: 31,422,681 (GRCm39)	A923V	possibly damaging	Het
Irgc	G	A	7: 24,132,107 (GRCm39)	H237Y	probably damaging	Het
Itga11	T	C	9: 62,604,262 (GRCm39)	I50T	possibly damaging	Het
Itpr3	C	T	17: 27,334,887 (GRCm39)	Q2134*	probably null	Het
Kat8	A	T	7: 127,523,653 (GRCm39)	D292V	possibly damaging	Het
Kdm2a	A	G	19: 4,374,392 (GRCm39)	M913T	possibly damaging	Het
Larp4	T	C	15: 99,883,961 (GRCm39)	V66A	probably benign	Het
Loxhd1	A	G	18: 77,462,858 (GRCm39)	D899G	probably damaging	Het
Lrrc47	G	T	4: 154,100,486 (GRCm39)	R354L	probably damaging	Het
Lss	C	T	10: 76,367,739 (GRCm39)	R24C	probably damaging	Het
Mmp14	C	T	14: 54,673,244 (GRCm39)	R51C	probably damaging	Het
Mon1a	C	T	9: 107,775,993 (GRCm39)	T37I	probably benign	Het
Mtcl2	A	G	2: 156,869,510 (GRCm39)	W1042R	possibly damaging	Het
Nacc2	A	C	2: 25,952,240 (GRCm39)	V372G	probably damaging	Het
Ncapg	T	C	5: 45,849,134 (GRCm39)	V690A	probably benign	Het
Nhej1	A	G	1: 75,006,896 (GRCm39)	L152P	probably damaging	Het
Nol4l	A	T	2: 153,259,337 (GRCm39)	S522R	probably damaging	Het
Nr0b2	A	G	4: 133,281,241 (GRCm39)	Y169C	probably damaging	Het
Numa1	A	G	7: 101,648,491 (GRCm39)	M741V	probably benign	Het
Or10d1b	A	G	9: 39,613,453 (GRCm39)	M204T	possibly damaging	Het
Or8g28	A	G	9: 39,169,899 (GRCm39)	L26P	probably damaging	Het
Pebp1	C	A	5: 117,425,473 (GRCm39)		probably null	Het
Pik3ip1	A	T	11: 3,291,581 (GRCm39)	I217F	probably damaging	Het
Plekhg1	T	A	10: 3,907,651 (GRCm39)	I911N		Het
Pnpla8	T	C	12: 44,342,846 (GRCm39)	I534T	probably damaging	Het
Ppp2r2a	A	T	14: 67,261,205 (GRCm39)	F172I	probably damaging	Het
Rab7	C	T	6: 87,989,292 (GRCm39)	M59I	probably benign	Het
Rbm34	T	C	8: 127,692,139 (GRCm39)	N201S	probably benign	Het
Rfx1	G	T	8: 84,821,483 (GRCm39)	R764L	probably damaging	Het
Rnase12	T	A	14: 51,294,580 (GRCm39)	D33V	probably damaging	Het
Rnf121	A	G	7: 101,684,532 (GRCm39)	L127P	probably damaging	Het
Rtl1	C	A	12: 109,560,180 (GRCm39)	R553L	probably damaging	Het
Scn8a	T	C	15: 100,881,736 (GRCm39)	L601P	probably damaging	Het
Scyl2	G	T	10: 89,476,525 (GRCm39)	Q867K	possibly damaging	Het
Sgtb	T	C	13: 104,268,692 (GRCm39)	F213L	probably benign	Het
Slc35f4	A	G	14: 49,551,084 (GRCm39)	V260A	probably damaging	Het
Slfn14	A	G	11: 83,174,299 (GRCm39)	Y231H	possibly damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Stard13	G	A	5: 151,157,106 (GRCm39)	A25V	possibly damaging	Het
Stk38	C	T	17: 29,203,161 (GRCm39)	R135H	probably damaging	Het
Svil	A	G	18: 5,108,679 (GRCm39)	D1939G	probably damaging	Het
Tasor2	C	T	13: 3,625,286 (GRCm39)	V1555I	possibly damaging	Het
Tasor2	G	T	13: 3,640,016 (GRCm39)	P374T	probably benign	Het
Tbc1d7	A	G	13: 43,323,340 (GRCm39)	V17A	possibly damaging	Het
Trpc4	T	C	3: 54,129,756 (GRCm39)	V174A	probably damaging	Het
Ttn	G	T	2: 76,619,028 (GRCm39)	T16117K	probably damaging	Het
Tubb3	T	A	8: 124,147,868 (GRCm39)	M267K	possibly damaging	Het
Upk1b	T	C	16: 38,604,585 (GRCm39)	T147A	probably damaging	Het
Vmn2r107	G	T	17: 20,580,614 (GRCm39)	C517F	probably damaging	Het
Vmn2r112	A	G	17: 22,824,140 (GRCm39)	D465G	probably damaging	Het
Vmn2r73	A	T	7: 85,507,619 (GRCm39)	H564Q	probably benign	Het
Vmn2r79	A	G	7: 86,686,726 (GRCm39)	I702M	possibly damaging	Het
Vmn2r84	A	G	10: 130,227,037 (GRCm39)	V267A	probably damaging	Het
Zfp445	T	C	9: 122,681,878 (GRCm39)	I688V	probably benign	Het
Zfp955a	C	T	17: 33,463,087 (GRCm39)	V15M	probably damaging	Het
Zfp960	T	A	17: 17,308,202 (GRCm39)	C305*	probably null	Het
Zfp964	A	G	8: 70,116,345 (GRCm39)	D315G	possibly damaging	Het
Zmynd10	T	A	9: 107,426,516 (GRCm39)	I183K	possibly damaging	Het

Other mutations in G530012D18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
BB001:G530012D18Rik	UTSW	1	85,504,935 (GRCm39)	missense	unknown
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
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'- ATCGTGAGCGTGTACCACAG -3'
(R):5'- AGATACAGGTGTTTCCTAAAGGG -3'

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

Posted On

2020-07-28