Mutagenetix > Incidental Mutations

Incidental Mutation 'R5734:2310035C23Rik'

451567

Institutional Source

Beutler Lab

Gene Symbol

2310035C23Rik

Ensembl Gene

ENSMUSG00000026319

Gene Name

RIKEN cDNA 2310035C23 gene

Synonyms

MMRRC Submission

043348-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R5734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105663861-105755191 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 105703883 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039173] [ENSMUST00000086721] [ENSMUST00000186807] [ENSMUST00000190501]

Predicted Effect

probably benign
Transcript: ENSMUST00000039173

SMART Domains

Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
LisH	231	263	1.25e-3	SMART
coiled coil region	334	372	N/A	INTRINSIC
SCOP:d1b3ua_	532	1069	4e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086721

SMART Domains

Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
coiled coil region	197	232	N/A	INTRINSIC
LisH	255	287	1.25e-3	SMART
coiled coil region	358	396	N/A	INTRINSIC
SCOP:d1b3ua_	556	1093	5e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185692

Predicted Effect

probably benign
Transcript: ENSMUST00000186807

SMART Domains

Protein: ENSMUSP00000140699
Gene: ENSMUSG00000026319

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
coiled coil region	197	232	N/A	INTRINSIC
LisH	255	287	3.9e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188969

Predicted Effect

probably benign
Transcript: ENSMUST00000190501

SMART Domains

Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
LisH	231	263	1.25e-3	SMART
coiled coil region	334	372	N/A	INTRINSIC
SCOP:d1b3ua_	532	1069	4e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192363

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,304,005		probably benign	Het
Abcc9	A	G	6: 142,625,731		probably benign	Het
Adamts2	G	A	11: 50,788,667	G825R	probably damaging	Het
Adgre1	A	T	17: 57,443,990	R555W	probably benign	Het
Apob	T	A	12: 7,988,781	V398D	probably damaging	Het
Arid4b	A	G	13: 14,160,271	N355S	probably benign	Het
Asb3	G	T	11: 31,029,021	D143Y	probably damaging	Het
Birc6	G	A	17: 74,618,424		probably benign	Het
Cacna1a	A	G	8: 84,583,731	M1425V	probably damaging	Het
Capn9	A	G	8: 124,605,844	E474G	probably damaging	Het
Capza2	T	C	6: 17,660,765	S155P	probably damaging	Het
Ccdc125	A	G	13: 100,687,114	N202S	possibly damaging	Het
Chrm5	T	A	2: 112,480,100	T224S	probably benign	Het
Chtop	C	T	3: 90,502,115		probably null	Het
Clip1	T	C	5: 123,615,154		probably benign	Het
Cyr61	A	G	3: 145,648,268	C256R	probably damaging	Het
Dbx2	T	C	15: 95,654,723	T14A	possibly damaging	Het
Dcaf8	T	C	1: 172,172,911	V212A	possibly damaging	Het
Fam114a1	T	C	5: 65,009,046	M240T	probably damaging	Het
Fat1	T	C	8: 45,051,209	Y4580H	probably damaging	Het
Glipr1	G	A	10: 111,985,793	R200*	probably null	Het
Gm6408	A	T	5: 146,482,382	Y69F	probably benign	Het
Gpt2	T	C	8: 85,523,256	S456P	probably benign	Het
Kat8	T	C	7: 127,920,579	F225S	probably benign	Het
Lactb2	T	A	1: 13,660,387	N22Y	probably damaging	Het
Lin28a	A	T	4: 134,007,973	C67*	probably null	Het
Marc2	T	C	1: 184,832,589	E155G	probably benign	Het
Myoz3	G	A	18: 60,579,471	T104M	possibly damaging	Het
Nek9	C	T	12: 85,303,515	M928I	probably benign	Het
Nlrp9a	G	C	7: 26,570,640	A831P	probably damaging	Het
Nop53	T	C	7: 15,945,962		probably null	Het
Ofcc1	T	A	13: 40,087,849	T728S	probably damaging	Het
Pabpc4l	T	A	3: 46,446,689		probably null	Het
Rbm34	T	C	8: 126,970,130		probably null	Het
Robo2	C	T	16: 74,352,784	C52Y	probably damaging	Het
Rpgr	G	A	X: 10,166,272	P857L	probably benign	Het
Scn2a	A	G	2: 65,717,722	Y57C	possibly damaging	Het
Selp	C	T	1: 164,143,891		probably benign	Het
Skp2	T	C	15: 9,139,479	D43G	possibly damaging	Het
Smad5	T	A	13: 56,723,804	S71T	probably damaging	Het
Sorcs1	G	T	19: 50,182,775	H892N	probably benign	Het
Sox6	C	T	7: 115,541,621		probably null	Het
St3gal1	A	T	15: 67,106,673	I333N	probably damaging	Het
Tex15	C	A	8: 33,546,336	Q97K	probably benign	Het
Tnxb	A	T	17: 34,698,910	T2266S	possibly damaging	Het
Tpbgl	C	A	7: 99,625,742	G303C	probably damaging	Het
Trat1	A	T	16: 48,734,941	S143T	possibly damaging	Het
Trpm8	T	A	1: 88,355,280	V763E	probably benign	Het
Ttc21a	G	A	9: 119,966,666	D1189N	probably benign	Het
Usp7	T	C	16: 8,701,981	N178D	possibly damaging	Het
Zfp217	T	C	2: 170,119,144	D421G	possibly damaging	Het
Zfp382	T	C	7: 30,134,430	F502S	probably damaging	Het

Other mutations in 2310035C23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:2310035C23Rik	APN	1	105696599	splice site	probably benign
IGL02393:2310035C23Rik	APN	1	105687368	missense	probably damaging	1.00
IGL02655:2310035C23Rik	APN	1	105678246	missense	probably damaging	1.00
IGL02992:2310035C23Rik	APN	1	105719464	missense	possibly damaging	0.89
IGL03170:2310035C23Rik	APN	1	105735955	missense	probably damaging	0.99
IGL03050:2310035C23Rik	UTSW	1	105726381	missense	probably damaging	0.98
R0022:2310035C23Rik	UTSW	1	105691902	splice site	probably benign
R0399:2310035C23Rik	UTSW	1	105750959	splice site	probably benign
R1243:2310035C23Rik	UTSW	1	105750364	missense	probably damaging	1.00
R1563:2310035C23Rik	UTSW	1	105719534	missense	probably damaging	1.00
R1760:2310035C23Rik	UTSW	1	105719444	splice site	probably benign
R1894:2310035C23Rik	UTSW	1	105664576	missense	probably benign	0.12
R2036:2310035C23Rik	UTSW	1	105743254	missense	probably damaging	1.00
R2428:2310035C23Rik	UTSW	1	105746126	missense	possibly damaging	0.88
R2905:2310035C23Rik	UTSW	1	105691994	missense	probably benign	0.04
R3121:2310035C23Rik	UTSW	1	105725799	missense	probably benign	0.15
R3750:2310035C23Rik	UTSW	1	105753577	missense	probably damaging	1.00
R3886:2310035C23Rik	UTSW	1	105692213	missense	probably benign	0.14
R4284:2310035C23Rik	UTSW	1	105721287	missense	probably damaging	0.98
R4671:2310035C23Rik	UTSW	1	105718859	missense	probably benign	0.00
R4706:2310035C23Rik	UTSW	1	105692279	missense	probably benign	0.28
R4760:2310035C23Rik	UTSW	1	105721305	missense	probably benign	0.17
R4776:2310035C23Rik	UTSW	1	105719535	nonsense	probably null
R5031:2310035C23Rik	UTSW	1	105664514	missense	probably damaging	1.00
R5051:2310035C23Rik	UTSW	1	105691986	missense	possibly damaging	0.85
R5085:2310035C23Rik	UTSW	1	105678180	missense	probably damaging	0.99
R5104:2310035C23Rik	UTSW	1	105731240	missense	probably benign	0.45
R5187:2310035C23Rik	UTSW	1	105718809	nonsense	probably null
R5259:2310035C23Rik	UTSW	1	105721376	missense	probably benign	0.01
R5435:2310035C23Rik	UTSW	1	105741250	intron	probably benign
R5444:2310035C23Rik	UTSW	1	105726384	missense	possibly damaging	0.60
R5490:2310035C23Rik	UTSW	1	105719501	missense	probably damaging	0.99
R5513:2310035C23Rik	UTSW	1	105750973	missense	probably damaging	0.99
R5556:2310035C23Rik	UTSW	1	105693167	missense	probably benign
R5779:2310035C23Rik	UTSW	1	105687347	missense	probably damaging	1.00
R5822:2310035C23Rik	UTSW	1	105718856	missense	probably damaging	1.00
R5878:2310035C23Rik	UTSW	1	105692960	missense	probably benign
R6015:2310035C23Rik	UTSW	1	105691958	missense	probably damaging	1.00
R6051:2310035C23Rik	UTSW	1	105721272	missense	probably damaging	1.00
R6266:2310035C23Rik	UTSW	1	105731282	critical splice donor site	probably null
R6556:2310035C23Rik	UTSW	1	105726440	missense	probably damaging	1.00
R6571:2310035C23Rik	UTSW	1	105692982	missense	probably benign
R6612:2310035C23Rik	UTSW	1	105692007	missense	possibly damaging	0.72
R6852:2310035C23Rik	UTSW	1	105753595	missense	probably damaging	1.00
R7209:2310035C23Rik	UTSW	1	105750357	missense	probably damaging	1.00
R7284:2310035C23Rik	UTSW	1	105734583	missense	probably benign	0.01
R7292:2310035C23Rik	UTSW	1	105721416	critical splice donor site	probably null
R7534:2310035C23Rik	UTSW	1	105741023	missense	probably benign	0.01
R7740:2310035C23Rik	UTSW	1	105731261	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCCTAGTGGAACATTGGAC -3'
(R):5'- GGAACTAACATTATGTCAGCATTGC -3'

Sequencing Primer
(F):5'- CCTAGTGGAACATTGGACAATACC -3'
(R):5'- GCATTTTGTATCCCCAAAGCAG -3'

Posted On

2017-01-03