Mutagenetix > Incidental Mutation

Incidental Mutation 'R7747:2010109A12Rik'

628408

Institutional Source

Beutler Lab

Gene Symbol

2010109A12Rik

Ensembl Gene

ENSMUSG00000029384

Gene Name

RIKEN cDNA 2010109A12 gene

Synonyms

MMRRC Submission

045803-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7747 (G1)

Quality Score

201.009

Status

Validated

Chromosome

Chromosomal Location

93354377-93361333 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 93354416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031330] [ENSMUST00000058550] [ENSMUST00000144514] [ENSMUST00000151568]

AlphaFold

Q9D875

Predicted Effect

probably null
Transcript: ENSMUST00000031330

Predicted Effect

probably benign
Transcript: ENSMUST00000058550

SMART Domains

Protein: ENSMUSP00000050189
Gene: ENSMUSG00000063015

Domain	Start	End	E-Value	Type
CYCLIN	50	136	1.18e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144514

SMART Domains

Protein: ENSMUSP00000122434
Gene: ENSMUSG00000063015

Domain	Start	End	E-Value	Type
Pfam:Cyclin_N	14	81	2.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151568

SMART Domains

Protein: ENSMUSP00000116224
Gene: ENSMUSG00000063015

Domain	Start	End	E-Value	Type
CYCLIN	50	136	1.18e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	C	T	12: 17,057,149 (GRCm39)	S116N	probably damaging	Het
3425401B19Rik	T	C	14: 32,385,026 (GRCm39)	D313G	possibly damaging	Het
AA986860	A	G	1: 130,671,284 (GRCm39)	E502G	possibly damaging	Het
Adamts20	T	A	15: 94,189,468 (GRCm39)	K1462*	probably null	Het
Adgrg6	A	C	10: 14,326,321 (GRCm39)		probably null	Het
Ankrd13d	G	A	19: 4,331,013 (GRCm39)	H165Y	probably damaging	Het
Arap3	T	C	18: 38,121,941 (GRCm39)		probably null	Het
Arhgap33	A	G	7: 30,223,560 (GRCm39)	V823A	probably damaging	Het
Aup1	C	A	6: 83,031,776 (GRCm39)	P34T	unknown	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bicc1	T	C	10: 70,782,823 (GRCm39)	T515A	probably benign	Het
Ccdc73	A	C	2: 104,759,901 (GRCm39)	K106Q	probably damaging	Het
Celsr3	G	A	9: 108,707,177 (GRCm39)	R1220Q	possibly damaging	Het
Cep290	C	T	10: 100,394,038 (GRCm39)	Q2082*	probably null	Het
Cercam	A	G	2: 29,761,298 (GRCm39)	D104G	probably benign	Het
Champ1	A	G	8: 13,929,990 (GRCm39)	H716R	probably damaging	Het
Cntrl	A	T	2: 35,006,810 (GRCm39)	I159F	probably damaging	Het
Col11a1	T	C	3: 113,896,221 (GRCm39)	I507T	unknown	Het
Cped1	T	C	6: 22,143,973 (GRCm39)	I573T	probably damaging	Het
Crot	C	T	5: 9,018,869 (GRCm39)		probably null	Het
D1Pas1	T	A	1: 186,700,874 (GRCm39)	S268T	probably benign	Het
Efcab3	T	G	11: 104,733,429 (GRCm39)	I2011S	probably damaging	Het
Erich6	A	G	3: 58,526,349 (GRCm39)	V551A	probably damaging	Het
Fbxo32	T	C	15: 58,054,757 (GRCm39)	N192S	probably damaging	Het
Fgd6	T	C	10: 93,880,778 (GRCm39)	V544A	probably damaging	Het
Fnbp1	C	T	2: 30,926,159 (GRCm39)	G552E	probably damaging	Het
Gjb5	A	T	4: 127,249,955 (GRCm39)	V63D	probably damaging	Het
Gm10053	T	C	19: 24,853,403 (GRCm39)	I96T	probably benign	Het
Gm38119	T	C	3: 92,645,328 (GRCm39)	S89G	unknown	Het
Gpn2	A	G	4: 133,313,356 (GRCm39)	I183V	probably benign	Het
Greb1	C	T	12: 16,724,796 (GRCm39)	V1793M	probably benign	Het
H2-Q7	A	G	17: 35,659,037 (GRCm39)	I163V	probably benign	Het
Hrh2	T	C	13: 54,368,549 (GRCm39)	V175A	possibly damaging	Het
Hsd3b3	C	T	3: 98,651,214 (GRCm39)	V79I	possibly damaging	Het
Itgb7	T	C	15: 102,125,039 (GRCm39)	I727M	possibly damaging	Het
Kcnj16	T	A	11: 110,915,569 (GRCm39)	F77Y	probably damaging	Het
Lilra6	T	A	7: 3,915,995 (GRCm39)	Q288L	probably benign	Het
Lrrc37	A	T	11: 103,505,081 (GRCm39)	S2296T	probably damaging	Het
Malrd1	G	A	2: 16,079,646 (GRCm39)	V1788M	unknown	Het
Mau2	T	C	8: 70,479,373 (GRCm39)	I349V	possibly damaging	Het
Mbnl3	C	T	X: 50,219,211 (GRCm39)	R181H	probably damaging	Het
Mfsd6	T	C	1: 52,715,706 (GRCm39)	T524A	probably benign	Het
Mical2	G	T	7: 111,933,046 (GRCm39)	R740L	probably benign	Het
Mknk1	G	A	4: 115,735,269 (GRCm39)	C379Y	possibly damaging	Het
Mta3	A	T	17: 84,099,165 (GRCm39)	K410*	probably null	Het
Myb	A	C	10: 21,032,324 (GRCm39)	I19S	possibly damaging	Het
Ncor2	A	G	5: 125,104,102 (GRCm39)	F996S		Het
Nlrp1a	T	C	11: 71,014,234 (GRCm39)	M339V	possibly damaging	Het
Or2n1d	C	T	17: 38,646,285 (GRCm39)	P79L	probably benign	Het
Or56b35	A	G	7: 104,963,654 (GRCm39)	K148E	probably damaging	Het
Pcdhga5	C	T	18: 37,829,835 (GRCm39)	T761I	possibly damaging	Het
Pcmtd2	T	C	2: 181,493,452 (GRCm39)	L219P	possibly damaging	Het
Pfdn1	C	T	18: 36,565,358 (GRCm39)		probably null	Het
Pkn3	G	A	2: 29,980,596 (GRCm39)	C829Y	probably benign	Het
Pld1	T	C	3: 28,141,338 (GRCm39)	S634P	possibly damaging	Het
Pofut2	T	G	10: 77,098,304 (GRCm39)	V139G	possibly damaging	Het
Prdm12	C	A	2: 31,543,883 (GRCm39)		probably null	Het
Prkar2b	C	A	12: 32,110,937 (GRCm39)	A49S	probably benign	Het
Prmt1	A	T	7: 44,633,560 (GRCm39)		probably null	Het
Rab39	A	T	9: 53,597,700 (GRCm39)	D188E	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scgb1b19	A	G	7: 32,986,923 (GRCm39)	I25V	probably benign	Het
Scn9a	A	T	2: 66,314,642 (GRCm39)	I1692N	probably damaging	Het
Sdk1	G	T	5: 142,070,246 (GRCm39)	G1137V	probably damaging	Het
Sec16b	A	G	1: 157,393,042 (GRCm39)	T950A	possibly damaging	Het
Senp2	G	T	16: 21,857,372 (GRCm39)	R398L	probably damaging	Het
Sfswap	G	T	5: 129,627,657 (GRCm39)		probably null	Het
Sh3rf1	A	G	8: 61,806,787 (GRCm39)	T362A	probably damaging	Het
Slc17a1	A	T	13: 24,072,035 (GRCm39)	I418F	probably benign	Het
Slc1a4	A	T	11: 20,258,587 (GRCm39)	M284K	probably damaging	Het
Slc5a2	A	T	7: 127,865,567 (GRCm39)		probably null	Het
Slco5a1	A	G	1: 13,060,346 (GRCm39)	V125A	probably benign	Het
Smu1	A	G	4: 40,748,600 (GRCm39)	V230A	probably benign	Het
Sp4	A	G	12: 118,218,139 (GRCm39)		probably null	Het
Stbd1	A	G	5: 92,753,416 (GRCm39)	K302R	probably damaging	Het
Stx2	A	T	5: 129,063,481 (GRCm39)	V268D	probably benign	Het
Tbc1d9b	G	A	11: 50,052,447 (GRCm39)	A885T	probably benign	Het
Tbce	T	A	13: 14,181,063 (GRCm39)	D267V	possibly damaging	Het
Tert	T	C	13: 73,775,725 (GRCm39)	Y159H	probably damaging	Het
Thbs2	T	A	17: 14,890,301 (GRCm39)	I1102F	possibly damaging	Het
Tmprss7	G	C	16: 45,503,873 (GRCm39)	A183G	probably benign	Het
Top3b	C	A	16: 16,705,585 (GRCm39)	P450Q	probably benign	Het
Trpm6	A	T	19: 18,727,409 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,837,271 (GRCm39)	D988G	probably damaging	Het
Vmn1r158	A	T	7: 22,489,725 (GRCm39)	S161R	probably benign	Het
Vps41	T	C	13: 19,025,422 (GRCm39)		probably null	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp617	T	A	8: 72,682,033 (GRCm39)		probably null	Het
Zfp808	C	T	13: 62,319,319 (GRCm39)	H183Y	probably benign	Het
Zfy1	A	T	Y: 725,496 (GRCm39)	C756*	probably null	Het
Zswim2	A	T	2: 83,745,951 (GRCm39)	Y496N	probably damaging	Het

Other mutations in 2010109A12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R6727:2010109A12Rik	UTSW	5	93,354,434 (GRCm39)	unclassified	probably benign
R7675:2010109A12Rik	UTSW	5	93,361,233 (GRCm39)	missense	unknown
R9776:2010109A12Rik	UTSW	5	93,361,305 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTAGTTCCATGATGACCCTGGG -3'
(R):5'- AAAGAGTCCGCGCACCTTTC -3'

Sequencing Primer
(F):5'- CCTCCGAGGGGAAATGGTG -3'
(R):5'- GCGCACCTTTCCTTCTCTTTGTG -3'

Posted On

2020-03-19