Mutagenetix > Incidental Mutation

Incidental Mutation 'R8941:2010315B03Rik'

680996

Institutional Source

Beutler Lab

Gene Symbol

2010315B03Rik

Ensembl Gene

ENSMUSG00000074829

Gene Name

RIKEN cDNA 2010315B03 gene

Synonyms

MMRRC Submission

068781-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8941 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

124054434-124075326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124056679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 103 (T103S)

Ref Sequence

ENSEMBL: ENSMUSP00000071269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071300] [ENSMUST00000177714] [ENSMUST00000185949] [ENSMUST00000189915]

AlphaFold

J3QK55

Predicted Effect

probably benign
Transcript: ENSMUST00000071300
AA Change: T103S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071269
Gene: ENSMUSG00000074829
AA Change: T103S

Domain	Start	End	E-Value	Type
KRAB	24	86	5.28e-14	SMART
ZnF_C2H2	95	117	5.9e-3	SMART
ZnF_C2H2	123	145	1.26e-2	SMART
ZnF_C2H2	151	173	2.95e-3	SMART
ZnF_C2H2	179	201	4.24e-4	SMART
ZnF_C2H2	207	229	1.38e-3	SMART
ZnF_C2H2	235	257	3.21e-4	SMART
ZnF_C2H2	263	285	1.26e-2	SMART
ZnF_C2H2	291	312	6.08e0	SMART
ZnF_C2H2	318	340	8.6e-5	SMART
ZnF_C2H2	346	368	1.36e-2	SMART
ZnF_C2H2	374	396	8.02e-5	SMART
ZnF_C2H2	402	424	9.58e-3	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000137258
Gene: ENSMUSG00000074829
AA Change: T82S

Domain	Start	End	E-Value	Type
KRAB	28	90	5.28e-14	SMART
ZnF_C2H2	99	121	5.9e-3	SMART
ZnF_C2H2	127	149	1.26e-2	SMART
ZnF_C2H2	155	177	2.95e-3	SMART
ZnF_C2H2	183	205	4.24e-4	SMART
ZnF_C2H2	211	233	1.38e-3	SMART
ZnF_C2H2	239	261	3.21e-4	SMART
ZnF_C2H2	267	289	1.26e-2	SMART
ZnF_C2H2	295	316	6.08e0	SMART
ZnF_C2H2	322	344	8.6e-5	SMART
ZnF_C2H2	350	372	1.36e-2	SMART
ZnF_C2H2	378	400	8.02e-5	SMART
ZnF_C2H2	406	428	9.58e-3	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000140144
Gene: ENSMUSG00000074829
AA Change: T107S

Domain	Start	End	E-Value	Type
KRAB	29	91	2.3e-16	SMART
ZnF_C2H2	100	122	2.5e-5	SMART
ZnF_C2H2	128	150	5.3e-5	SMART
ZnF_C2H2	156	175	5.1e-1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000140738
Gene: ENSMUSG00000074829
AA Change: T79S

Domain	Start	End	E-Value	Type
KRAB	1	63	2.3e-16	SMART
ZnF_C2H2	72	94	2.5e-5	SMART
ZnF_C2H2	100	122	5.3e-5	SMART
ZnF_C2H2	128	150	1.2e-5	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	A	G	3: 59,784,400 (GRCm39)	Y291C	probably damaging	Het
Aass	A	T	6: 23,075,261 (GRCm39)		probably benign	Het
Adgrb3	A	T	1: 25,133,235 (GRCm39)	C1284S	probably damaging	Het
Adora2a	G	A	10: 75,169,559 (GRCm39)	W341*	probably null	Het
Afg2a	T	A	3: 37,486,142 (GRCm39)	L288H	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Asic5	A	T	3: 81,913,915 (GRCm39)		probably benign	Het
Canx	T	C	11: 50,195,270 (GRCm39)	D266G	possibly damaging	Het
Cfap57	A	T	4: 118,426,799 (GRCm39)	Y1080N	probably damaging	Het
Chat	C	T	14: 32,130,963 (GRCm39)	M559I	probably benign	Het
Chd5	G	A	4: 152,463,305 (GRCm39)	S1425N	possibly damaging	Het
Cog8	T	C	8: 107,783,202 (GRCm39)	D29G	probably damaging	Het
Cox15	A	G	19: 43,732,172 (GRCm39)	S215P	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Dbt	T	C	3: 116,339,698 (GRCm39)	V362A	probably damaging	Het
Dio1	C	A	4: 107,164,147 (GRCm39)	A57S	probably benign	Het
F5	C	A	1: 164,026,440 (GRCm39)	H1671N	probably benign	Het
Gm6309	A	G	5: 146,107,155 (GRCm39)	Y64H	probably damaging	Het
Hipk1	A	G	3: 103,660,743 (GRCm39)	C731R	probably damaging	Het
Hmgcl	G	A	4: 135,683,015 (GRCm39)	A156T	probably damaging	Het
Il15ra	A	T	2: 11,737,995 (GRCm39)	T210S	possibly damaging	Het
Kat8	T	C	7: 127,524,400 (GRCm39)	L426P	probably damaging	Het
Lrrc39	G	T	3: 116,359,496 (GRCm39)	V14L	probably damaging	Het
Lrrc7	T	C	3: 157,869,593 (GRCm39)	M709V	probably benign	Het
Mdm4	T	C	1: 132,919,671 (GRCm39)	H398R	probably benign	Het
Mroh2b	A	T	15: 4,991,606 (GRCm39)	Q1568L	possibly damaging	Het
Myo18b	G	A	5: 113,022,795 (GRCm39)		probably benign	Het
Nr4a3	C	A	4: 48,051,756 (GRCm39)	P170Q	possibly damaging	Het
Ntrk2	A	G	13: 59,208,109 (GRCm39)	M652V	probably damaging	Het
Or10n7-ps1	A	T	9: 39,597,812 (GRCm39)	*143K	probably null	Het
Or5b95	G	A	19: 12,657,471 (GRCm39)		probably benign	Het
Paxbp1	T	C	16: 90,832,815 (GRCm39)	I325V	possibly damaging	Het
Pcare	T	C	17: 72,059,137 (GRCm39)	H180R	probably benign	Het
Pi4ka	G	T	16: 17,114,807 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,825,380 (GRCm39)	S421P	probably damaging	Het
Pou6f1	T	A	15: 100,489,742 (GRCm39)	D74V	probably damaging	Het
Prpsap2	C	A	11: 61,627,870 (GRCm39)	R202L	probably damaging	Het
Ptprn	A	T	1: 75,228,407 (GRCm39)	L890Q	probably damaging	Het
Ramp1	C	G	1: 91,134,137 (GRCm39)	P97A	probably benign	Het
Rapgefl1	A	G	11: 98,731,101 (GRCm39)	D179G	probably damaging	Het
Rbp3	T	A	14: 33,678,486 (GRCm39)	F811L	possibly damaging	Het
Rnf213	C	A	11: 119,305,250 (GRCm39)	L494M	probably damaging	Het
Rpl4	A	G	9: 64,082,245 (GRCm39)	N48S	probably benign	Het
Rsbn1l	A	G	5: 21,110,841 (GRCm39)	V499A	probably damaging	Het
Sacs	A	G	14: 61,430,022 (GRCm39)	T691A	probably benign	Het
Sass6	T	C	3: 116,407,709 (GRCm39)	V275A	probably benign	Het
Sdcbp	T	C	4: 6,393,661 (GRCm39)	S259P	probably benign	Het
Sephs2	A	G	7: 126,872,206 (GRCm39)	F296L	probably benign	Het
Slc12a4	C	T	8: 106,673,322 (GRCm39)		probably null	Het
Snrk	G	A	9: 121,989,597 (GRCm39)	V314I	probably benign	Het
Tas1r3	C	T	4: 155,947,600 (GRCm39)		probably null	Het
Tle3	T	A	9: 61,320,195 (GRCm39)	V560E	probably damaging	Het
Trdmt1	A	G	2: 13,526,918 (GRCm39)	Y144H	probably benign	Het
Trim42	T	C	9: 97,245,100 (GRCm39)	T567A	probably benign	Het
Tsbp1	A	C	17: 34,678,973 (GRCm39)	R228S	possibly damaging	Het
Tuba4a	T	C	1: 75,193,945 (GRCm39)	D74G	probably benign	Het
Ube3c	G	A	5: 29,842,769 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,375,311 (GRCm39)	D375G	probably benign	Het
Zfp729b	A	G	13: 67,741,218 (GRCm39)	M349T	possibly damaging	Het

Other mutations in 2010315B03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01872:2010315B03Rik	APN	9	124,058,120 (GRCm39)	splice site	probably benign
P4748:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0090:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0122:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0140:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0164:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0164:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0388:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0775:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0798:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R1467:2010315B03Rik	UTSW	9	124,058,093 (GRCm39)	missense	possibly damaging	0.91
R1569:2010315B03Rik	UTSW	9	124,056,427 (GRCm39)	nonsense	probably null
R2566:2010315B03Rik	UTSW	9	124,055,783 (GRCm39)	missense	probably damaging	0.99
R2566:2010315B03Rik	UTSW	9	124,055,701 (GRCm39)	missense	probably damaging	0.97
R3853:2010315B03Rik	UTSW	9	124,055,976 (GRCm39)	missense	probably damaging	1.00
R4092:2010315B03Rik	UTSW	9	124,055,903 (GRCm39)	missense	probably benign	0.03
R4109:2010315B03Rik	UTSW	9	124,057,733 (GRCm39)	missense	probably benign	0.01
R4646:2010315B03Rik	UTSW	9	124,056,228 (GRCm39)	missense	probably benign	0.00
R4648:2010315B03Rik	UTSW	9	124,056,228 (GRCm39)	missense	probably benign	0.00
R4705:2010315B03Rik	UTSW	9	124,056,631 (GRCm39)	missense	possibly damaging	0.86
R4764:2010315B03Rik	UTSW	9	124,056,396 (GRCm39)	missense	probably benign	0.01
R5110:2010315B03Rik	UTSW	9	124,057,987 (GRCm39)	critical splice donor site	probably null
R5117:2010315B03Rik	UTSW	9	124,055,715 (GRCm39)	missense	probably benign	0.00
R5162:2010315B03Rik	UTSW	9	124,056,301 (GRCm39)	missense	probably benign	0.08
R5226:2010315B03Rik	UTSW	9	124,056,706 (GRCm39)	missense	possibly damaging	0.91
R5426:2010315B03Rik	UTSW	9	124,056,633 (GRCm39)	missense	probably damaging	1.00
R6793:2010315B03Rik	UTSW	9	124,058,052 (GRCm39)	missense	possibly damaging	0.85
R6975:2010315B03Rik	UTSW	9	124,056,687 (GRCm39)	missense	probably benign	0.02
R7213:2010315B03Rik	UTSW	9	124,056,530 (GRCm39)	nonsense	probably null
R8011:2010315B03Rik	UTSW	9	124,056,529 (GRCm39)	missense
R8086:2010315B03Rik	UTSW	9	124,055,808 (GRCm39)	missense
R8117:2010315B03Rik	UTSW	9	124,058,078 (GRCm39)	missense
R8363:2010315B03Rik	UTSW	9	124,055,800 (GRCm39)	missense
R9523:2010315B03Rik	UTSW	9	124,056,652 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ACAATGACTTGCAAAGGCTGTAC -3'
(R):5'- GAAGATATCTAGTAGTCCCCACTTTGA -3'

Sequencing Primer
(F):5'- AAGGCTGTACCGCATTGATC -3'
(R):5'- AGTAGTCCCCACTTTGAGTAGAC -3'

Posted On

2021-08-31