Mutagenetix > Incidental Mutation

Incidental Mutation 'R5664:0610030E20Rik'

444256

Institutional Source

Beutler Lab

Gene Symbol

0610030E20Rik

Ensembl Gene

ENSMUSG00000058706

Gene Name

RIKEN cDNA 0610030E20 gene

Synonyms

MMRRC Submission

043307-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72347317-72353148 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 72348994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070345] [ENSMUST00000077783]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070345

SMART Domains

Protein: ENSMUSP00000064515
Gene: ENSMUSG00000056305

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	48	73	N/A	INTRINSIC
ZnF_C2H2	133	154	5.07e0	SMART
Pfam:UCH	223	551	3.9e-45	PFAM
Pfam:UCH_1	224	533	1.3e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000077783

SMART Domains

Protein: ENSMUSP00000076957
Gene: ENSMUSG00000058706

Domain	Start	End	E-Value	Type
Pfam:UPF0561	1	126	4.4e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206838

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810032O08Rik	A	T	11: 116,672,664 (GRCm38)	T27S	possibly damaging	Het
4930432K21Rik	A	T	8: 84,166,659 (GRCm38)	I152F	probably benign	Het
9430015G10Rik	T	A	4: 156,123,559 (GRCm38)	L112H	probably damaging	Het
Acaca	T	C	11: 84,243,384 (GRCm38)	L441P	probably damaging	Het
Ank3	G	A	10: 70,002,565 (GRCm38)	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,438,657 (GRCm38)	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,107,620 (GRCm38)	T373A	probably damaging	Het
Atr	C	A	9: 95,905,813 (GRCm38)	N1486K	probably benign	Het
Avl9	T	C	6: 56,753,839 (GRCm38)	S583P	probably damaging	Het
Bptf	A	T	11: 107,073,699 (GRCm38)	D1493E	probably benign	Het
C2cd2l	T	C	9: 44,313,772 (GRCm38)	E548G	probably damaging	Het
Capn3	G	A	2: 120,477,025 (GRCm38)	R15Q	probably benign	Het
Ccl3	A	G	11: 83,649,213 (GRCm38)	F22S	probably benign	Het
Clcf1	T	C	19: 4,222,096 (GRCm38)	F69S	probably damaging	Het
Col13a1	T	C	10: 61,851,116 (GRCm38)	E170G	probably damaging	Het
Dhx29	T	A	13: 112,946,879 (GRCm38)	F489L	probably damaging	Het
Dhx8	A	T	11: 101,740,751 (GRCm38)	N390I	probably damaging	Het
Dkk1	T	A	19: 30,548,789 (GRCm38)	Y135F	probably benign	Het
Edil3	G	T	13: 89,319,713 (GRCm38)	V446F	probably damaging	Het
Epha5	T	A	5: 84,331,866 (GRCm38)	E93V	probably damaging	Het
Epsti1	C	T	14: 77,963,664 (GRCm38)	T196I	possibly damaging	Het
Fras1	T	C	5: 96,728,535 (GRCm38)	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,652,490 (GRCm38)	V1532A	probably benign	Het
Fsip2	T	A	2: 82,988,095 (GRCm38)	M4724K	probably benign	Het
Gcat	T	A	15: 79,043,073 (GRCm38)	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,702,275 (GRCm38)	K276E	probably benign	Het
Gjb5	T	A	4: 127,355,929 (GRCm38)	I141F	probably benign	Het
Glt6d1	T	C	2: 25,814,180 (GRCm38)	I7V	probably benign	Het
Gm37596	A	G	3: 93,692,687 (GRCm38)	F125S	probably benign	Het
Gm5771	C	T	6: 41,394,671 (GRCm38)	P17L	probably benign	Het
Gm6169	C	A	13: 97,099,121 (GRCm38)	L39F	probably damaging	Het
Gtf2h5	G	A	17: 6,084,524 (GRCm38)	G30R	probably damaging	Het
Herc6	C	A	6: 57,618,684 (GRCm38)	T449K	probably benign	Het
Hpn	A	T	7: 31,099,262 (GRCm38)	Y132N	probably damaging	Het
Hpx	A	T	7: 105,595,148 (GRCm38)	M190K	probably benign	Het
Inf2	A	G	12: 112,611,728 (GRCm38)	H1151R	unknown	Het
Krt74	A	G	15: 101,760,579 (GRCm38)		noncoding transcript	Het
Loxl3	G	A	6: 83,049,882 (GRCm38)	S564N	probably benign	Het
Map7	T	A	10: 20,267,359 (GRCm38)	V418E	unknown	Het
Mrpl37	T	C	4: 107,064,391 (GRCm38)	N214D	probably benign	Het
Mthfr	T	C	4: 148,055,466 (GRCm38)	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,359,882 (GRCm38)	D2099G	probably benign	Het
Nktr	T	A	9: 121,749,417 (GRCm38)	C825*	probably null	Het
Nomo1	A	G	7: 46,076,157 (GRCm38)	E1029G	probably benign	Het
Nup133	T	C	8: 123,906,281 (GRCm38)	D1037G	probably benign	Het
Olfr1271	A	G	2: 90,265,615 (GRCm38)	F272L	probably damaging	Het
Olfr153	T	C	2: 87,532,834 (GRCm38)	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,448,996 (GRCm38)	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,737,007 (GRCm38)	L38P	probably damaging	Het
Pkd1	A	T	17: 24,569,371 (GRCm38)	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,537,478 (GRCm38)	T1070A	probably damaging	Het
Ppl	T	C	16: 5,106,055 (GRCm38)	D185G	probably benign	Het
Prune1	A	T	3: 95,258,178 (GRCm38)	L261Q	probably damaging	Het
Qser1	A	T	2: 104,778,196 (GRCm38)	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,654,467 (GRCm38)	C8G	probably damaging	Het
Sla2	A	T	2: 156,874,999 (GRCm38)	D180E	probably benign	Het
Slc4a4	C	T	5: 89,028,244 (GRCm38)	L25F	probably damaging	Het
Tbx3	A	G	5: 119,678,731 (GRCm38)	K311R	possibly damaging	Het
Thbs2	A	T	17: 14,689,837 (GRCm38)	C167S	probably damaging	Het
Trak1	T	A	9: 121,472,307 (GRCm38)	C710S	possibly damaging	Het
Tsks	G	A	7: 44,953,784 (GRCm38)	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,746,379 (GRCm38)	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,592,765 (GRCm38)	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,713,074 (GRCm38)	T303M	probably damaging	Het
Vmn2r68	A	T	7: 85,233,770 (GRCm38)	M258K	probably benign	Het
Vmn2r76	A	G	7: 86,245,994 (GRCm38)		probably null	Het
Wap	A	G	11: 6,638,609 (GRCm38)	I5T	possibly damaging	Het
Zfp235	A	C	7: 24,142,151 (GRCm38)	H665P	probably damaging	Het

Other mutations in 0610030E20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6170:0610030E20Rik	UTSW	6	72,348,572 (GRCm38)	missense	probably benign	0.00
R6284:0610030E20Rik	UTSW	6	72,347,454 (GRCm38)	missense	probably damaging	1.00
R7988:0610030E20Rik	UTSW	6	72,347,652 (GRCm38)	missense	probably damaging	1.00
R8228:0610030E20Rik	UTSW	6	72,347,517 (GRCm38)	critical splice donor site	probably null
R9681:0610030E20Rik	UTSW	6	72,347,467 (GRCm38)	missense	probably damaging	1.00
R9726:0610030E20Rik	UTSW	6	72,348,667 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACATAGAGATTCCTAGTTGGGG -3'
(R):5'- ATGGACTCATCCTGACACCC -3'

Sequencing Primer
(F):5'- ATTCCTAGTTGGGGGAACAGG -3'
(R):5'- CCAAACTAGGGGTGAGCTC -3'

Posted On

2016-11-09