Mutagenetix > Incidental Mutation

Incidental Mutation 'R4806:2310022A10Rik'

406142

Institutional Source

Beutler Lab

Gene Symbol

2310022A10Rik

Ensembl Gene

ENSMUSG00000049643

Gene Name

RIKEN cDNA 2310022A10 gene

Synonyms

MMRRC Submission

042425-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R4806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27252658-27281524 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 27265070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067386] [ENSMUST00000187032] [ENSMUST00000187960] [ENSMUST00000191126]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000067386

SMART Domains

Protein: ENSMUSP00000066803
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	34	100	5e-20	BLAST
SCOP:d1b4fa_	54	100	7e-5	SMART
low complexity region	164	176	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186826

Predicted Effect

probably null
Transcript: ENSMUST00000187032

SMART Domains

Protein: ENSMUSP00000139423
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	28	92	4e-20	BLAST
SCOP:d1b4fa_	48	94	6e-5	SMART
low complexity region	158	170	N/A	INTRINSIC
low complexity region	262	271	N/A	INTRINSIC
low complexity region	294	319	N/A	INTRINSIC
low complexity region	378	386	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000187960

SMART Domains

Protein: ENSMUSP00000140651
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	34	98	4e-20	BLAST
SCOP:d1b4fa_	54	100	6e-5	SMART
low complexity region	164	176	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC
low complexity region	384	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190656

Predicted Effect

probably null
Transcript: ENSMUST00000191126

SMART Domains

Protein: ENSMUSP00000139696
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	8	74	1e-22	BLAST
SCOP:d1b4fa_	28	74	4e-5	SMART
low complexity region	138	150	N/A	INTRINSIC

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 37,289,746 (GRCm39)	H28L	probably benign	Het
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
Acd	A	G	8: 106,424,922 (GRCm39)	V406A	possibly damaging	Het
Acin1	A	T	14: 54,916,685 (GRCm39)		probably benign	Het
Agbl4	T	C	4: 110,812,834 (GRCm39)	V118A	probably damaging	Het
Arhgap5	A	G	12: 52,565,486 (GRCm39)	D819G	probably damaging	Het
BC049715	A	T	6: 136,816,927 (GRCm39)	I56F	possibly damaging	Het
C1rb	A	T	6: 124,551,908 (GRCm39)	Q270L	probably benign	Het
Cadps2	C	T	6: 23,688,859 (GRCm39)	R121Q	probably damaging	Het
Cd84	A	G	1: 171,679,688 (GRCm39)	Y122C	probably benign	Het
Cklf	C	A	8: 104,984,067 (GRCm39)	P77T	probably damaging	Het
Clrn2	T	C	5: 45,611,346 (GRCm39)	L65P	probably damaging	Het
Csde1	TCCTCGACCT	TCCT	3: 102,963,685 (GRCm39)		probably benign	Het
Csf2rb2	T	C	15: 78,169,490 (GRCm39)	D446G	probably benign	Het
Csmd3	T	C	15: 48,177,464 (GRCm39)	E358G	probably benign	Het
Dmkn	C	T	7: 30,470,667 (GRCm39)	T385I	possibly damaging	Het
Dnah10	A	G	5: 124,896,408 (GRCm39)	T3591A	probably damaging	Het
Dpp9	A	G	17: 56,497,030 (GRCm39)	L734P	probably damaging	Het
Edem2	A	G	2: 155,570,913 (GRCm39)	V39A	possibly damaging	Het
Glmp	A	C	3: 88,233,320 (GRCm39)		probably benign	Het
Gm20775	T	C	Y: 10,641,885 (GRCm39)		noncoding transcript	Het
Gpr179	T	G	11: 97,240,610 (GRCm39)	D271A	possibly damaging	Het
Gtf2ird1	A	G	5: 134,412,750 (GRCm39)	V587A	probably damaging	Het
Igfn1	T	A	1: 135,895,095 (GRCm39)	T1824S	probably benign	Het
Ighmbp2	A	T	19: 3,311,589 (GRCm39)	I942N	probably damaging	Het
Ints2	A	G	11: 86,147,035 (GRCm39)	L37P	probably benign	Het
Irgq	T	A	7: 24,233,470 (GRCm39)	L437Q	probably damaging	Het
Kcnq4	A	T	4: 120,570,291 (GRCm39)	W351R	probably damaging	Het
Kif3b	G	A	2: 153,162,288 (GRCm39)	A500T	probably damaging	Het
Lpp	A	G	16: 24,480,430 (GRCm39)	D66G	probably damaging	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mc4r	T	A	18: 66,992,559 (GRCm39)	I185F	probably damaging	Het
Mdga1	T	C	17: 30,061,128 (GRCm39)	D621G	probably benign	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Myh11	A	T	16: 14,018,947 (GRCm39)		probably null	Het
Naip1	G	A	13: 100,562,129 (GRCm39)	A1012V	probably benign	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Plb1	G	A	5: 32,447,196 (GRCm39)	G321D	probably damaging	Het
Plxnd1	A	G	6: 115,937,816 (GRCm39)	V1510A	probably damaging	Het
Polr1e	T	A	4: 45,024,482 (GRCm39)	M131K	probably benign	Het
Prdm10	T	A	9: 31,241,237 (GRCm39)	*342R	probably null	Het
Prex2	T	C	1: 11,138,244 (GRCm39)	F108L	probably damaging	Het
Psmg2	T	A	18: 67,781,992 (GRCm39)	I186N	probably benign	Het
Ros1	T	A	10: 51,972,271 (GRCm39)	E1614D	probably damaging	Het
Sin3a	G	A	9: 56,994,026 (GRCm39)	V44M	probably damaging	Het
Slco1a1	G	A	6: 141,854,735 (GRCm39)	L639F	possibly damaging	Het
Smr2	T	G	5: 88,246,289 (GRCm39)	L101*	probably null	Het
Spata31d1b	C	T	13: 59,863,535 (GRCm39)	P228S	probably benign	Het
Stat5b	G	T	11: 100,681,623 (GRCm39)	H544N	probably benign	Het
Syk	A	T	13: 52,786,963 (GRCm39)	Y319F	probably benign	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tsc22d1	A	G	14: 76,654,428 (GRCm39)		probably null	Het
Vmn2r52	T	A	7: 9,893,169 (GRCm39)	T657S	probably damaging	Het
Vmn2r63	A	T	7: 42,576,314 (GRCm39)	S500T	probably benign	Het
Vps45	A	C	3: 95,953,725 (GRCm39)	V209G	probably benign	Het
Xrcc1	C	A	7: 24,269,905 (GRCm39)	A442E	probably benign	Het
Ythdc1	T	A	5: 86,970,704 (GRCm39)	V430E	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp422	A	T	6: 116,603,623 (GRCm39)	N125K	probably damaging	Het
Zfp53	T	A	17: 21,725,263 (GRCm39)	D58E	possibly damaging	Het
Zfp707	C	T	15: 75,845,000 (GRCm39)	Q66*	probably null	Het

Other mutations in 2310022A10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02292:2310022A10Rik	APN	7	27,263,982 (GRCm39)	missense	probably benign	0.05
IGL03261:2310022A10Rik	APN	7	27,279,863 (GRCm39)	nonsense	probably null
R0305:2310022A10Rik	UTSW	7	27,274,061 (GRCm39)	missense	probably damaging	1.00
R1080:2310022A10Rik	UTSW	7	27,265,109 (GRCm39)	missense	probably benign
R1696:2310022A10Rik	UTSW	7	27,260,022 (GRCm39)	missense	possibly damaging	0.94
R1773:2310022A10Rik	UTSW	7	27,280,020 (GRCm39)	missense	probably damaging	0.98
R4171:2310022A10Rik	UTSW	7	27,265,109 (GRCm39)	missense	probably benign
R4583:2310022A10Rik	UTSW	7	27,274,017 (GRCm39)	missense	unknown
R4781:2310022A10Rik	UTSW	7	27,271,076 (GRCm39)	missense	probably damaging	1.00
R4998:2310022A10Rik	UTSW	7	27,271,088 (GRCm39)	missense	probably damaging	1.00
R5000:2310022A10Rik	UTSW	7	27,255,946 (GRCm39)	missense	probably benign	0.04
R5007:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R5008:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R5364:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R6119:2310022A10Rik	UTSW	7	27,265,138 (GRCm39)	nonsense	probably null
R6991:2310022A10Rik	UTSW	7	27,279,871 (GRCm39)	missense	probably damaging	1.00
R7014:2310022A10Rik	UTSW	7	27,278,198 (GRCm39)	nonsense	probably null
R7519:2310022A10Rik	UTSW	7	27,274,155 (GRCm39)	missense
R7787:2310022A10Rik	UTSW	7	27,263,926 (GRCm39)	missense	probably damaging	1.00
R8244:2310022A10Rik	UTSW	7	27,271,004 (GRCm39)	missense	probably damaging	1.00
R8525:2310022A10Rik	UTSW	7	27,255,936 (GRCm39)	missense	possibly damaging	0.64
R9246:2310022A10Rik	UTSW	7	27,279,961 (GRCm39)	missense	probably benign	0.06
R9500:2310022A10Rik	UTSW	7	27,265,091 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AGCAGAATAGTACTAAGTTGAGCCG -3'
(R):5'- TATGAGCAGCCACTCCTCACTAG -3'

Sequencing Primer
(F):5'- CCGTGGCTCAGACGTTAAGTG -3'
(R):5'- CCTTACAGGGGGCTTCAGTG -3'

Posted On

2016-07-28