Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:G530012D18Rik'

639708

Institutional Source

Beutler Lab

Gene Symbol

G530012D18Rik

Ensembl Gene

ENSMUSG00000094127

Gene Name

RIKEN cDNA G530012D1 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R8264 (G1)

Quality Score

109.008

Status

Validated

Chromosome

Chromosomal Location

85575676-85577295 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 85577214 bp (GRCm38)

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

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,067,782	C911S	probably damaging	Het
Abcc4	T	A	14: 118,594,842	N792I	possibly damaging	Het
Acacb	A	T	5: 114,207,366	H960L	probably benign	Het
Aox1	A	G	1: 58,053,714	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,473,566	S18G	probably benign	Het
Chfr	T	A	5: 110,152,434	I348N	possibly damaging	Het
Cntln	G	A	4: 85,098,411	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,807,527	S136P	possibly damaging	Het
Dnah14	T	A	1: 181,744,792	M2896K	probably damaging	Het
Elp6	A	G	9: 110,319,687	T215A	probably damaging	Het
Esyt2	A	C	12: 116,365,920	Q699H	probably benign	Het
Fbxo25	A	G	8: 13,929,393	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,455,032	S294P	probably damaging	Het
Galnt10	A	G	11: 57,782,206	I463V	probably benign	Het
Glce	A	G	9: 62,060,430	F480L	probably benign	Het
H2-Aa	A	G	17: 34,287,735	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,146,526	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,104,112		silent	Het
Izumo4	G	T	10: 80,702,738	G8V		Het
Klk1b5	T	A	7: 44,220,030	L178H	probably damaging	Het
Lama2	T	C	10: 27,467,222	N85D	probably benign	Het
Liph	A	C	16: 21,983,971	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,081,502	V62D	probably damaging	Het
Map3k19	T	A	1: 127,823,791	I303F		Het
Mymk	A	G	2: 27,067,856		probably benign	Het
Myo10	G	A	15: 25,800,109	V1424M	probably damaging	Het
Myof	T	G	19: 37,921,433	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,094,742		probably benign	Het
Nup214	T	A	2: 31,994,726	Y500N	possibly damaging	Het
Olfr1040	T	C	2: 86,146,194	D180G	probably damaging	Het
Papd4	C	T	13: 93,175,569	G208S	probably damaging	Het
Pappa2	T	C	1: 158,854,973	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,756,581	E95G	probably damaging	Het
Phf3	A	T	1: 30,831,057	N303K	possibly damaging	Het
Pnn	C	T	12: 59,072,577	H649Y	unknown	Het
Rab11fip1	G	A	8: 27,152,480	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,333,450	M1762K	possibly damaging	Het
Rif1	G	A	2: 52,090,278	A496T	noncoding transcript	Het
Rnase13	A	T	14: 51,922,457	V75D	probably damaging	Het
Sema3c	G	A	5: 17,676,539		probably benign	Het
Sema4c	C	G	1: 36,552,885	G266R	probably damaging	Het
Slfn5	A	T	11: 82,956,550	D87V	probably damaging	Het
Smpd3	T	C	8: 106,264,658	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,378,074	V188A	probably benign	Het
Srms	A	G	2: 181,212,550	Y75H	probably benign	Het
Tex15	T	C	8: 33,582,362	S2646P	probably benign	Het
Togaram1	A	G	12: 64,995,556	I1130V	probably benign	Het
Ttf1	A	G	2: 29,064,677	K18E	possibly damaging	Het
Unc5b	G	T	10: 60,768,334	T827K	probably benign	Het
Zfhx2	T	A	14: 55,065,512	T1672S	possibly 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
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
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
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'- ACATCGTGAGCGTGTACCAC -3'
(R):5'- ACAGGTGTTTCCTAAAGGGG -3'

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

Posted On

2020-07-28