Mutagenetix > Incidental Mutation

Incidental Mutation 'R9583:2310057J18Rik'

722665

Institutional Source

Beutler Lab

Gene Symbol

2310057J18Rik

Ensembl Gene

ENSMUSG00000015519

Gene Name

RIKEN cDNA 2310057J18 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9583 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28848284-28862299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28862092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 66 (I66N)

Ref Sequence

ENSEMBL: ENSMUSP00000015663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015663] [ENSMUST00000140558] [ENSMUST00000152363]

AlphaFold

Q8C6C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000015663
AA Change: I66N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015663
Gene: ENSMUSG00000015519
AA Change: I66N

Domain	Start	End	E-Value	Type
Pfam:DUF781	8	337	4.5e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140558

SMART Domains

Protein: ENSMUSP00000121044
Gene: ENSMUSG00000015519

Domain	Start	End	E-Value	Type
Pfam:DUF781	1	228	5.1e-100	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118049
Gene: ENSMUSG00000015519
AA Change: I66N

Domain	Start	End	E-Value	Type
Pfam:DUF781	1	237	1.9e-116	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	T	8: 95,760,071 (GRCm39)	I97F	probably benign	Het
AI987944	T	A	7: 41,023,937 (GRCm39)	R350S	probably benign	Het
Arap3	T	C	18: 38,109,096 (GRCm39)	T1214A	probably damaging	Het
Arid5a	A	G	1: 36,356,739 (GRCm39)	E127G	possibly damaging	Het
Bbx	T	C	16: 50,044,920 (GRCm39)	E547G	possibly damaging	Het
Ceacam16	T	C	7: 19,587,803 (GRCm39)	I322V	probably damaging	Het
Chd2	G	T	7: 73,130,230 (GRCm39)	N808K	probably damaging	Het
Copg2	A	C	6: 30,787,399 (GRCm39)	L615*	probably null	Het
Cyp21a1	A	G	17: 35,022,017 (GRCm39)	L221P	probably damaging	Het
Dnah9	C	A	11: 65,856,507 (GRCm39)	V2885L	probably damaging	Het
Dnajb13	A	G	7: 100,152,446 (GRCm39)	L290P	probably damaging	Het
Eif3e	A	G	15: 43,128,957 (GRCm39)	V221A	probably damaging	Het
Evc	G	A	5: 37,473,701 (GRCm39)	R511*	probably null	Het
Far2	C	T	6: 148,059,434 (GRCm39)	P250S	probably damaging	Het
Fmo1	T	A	1: 162,686,996 (GRCm39)	T44S		Het
Grid1	A	G	14: 35,302,492 (GRCm39)	E919G	possibly damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hoxb2	A	G	11: 96,242,725 (GRCm39)	E30G	probably damaging	Het
Il5ra	G	A	6: 106,689,331 (GRCm39)	P75L	unknown	Het
Il5ra	T	A	6: 106,721,297 (GRCm39)	M1L	possibly damaging	Het
Inpp4b	T	C	8: 82,497,555 (GRCm39)		probably null	Het
Itgb8	T	A	12: 119,153,708 (GRCm39)	H269L	possibly damaging	Het
Jrk	G	A	15: 74,578,403 (GRCm39)	A294V	probably damaging	Het
Knl1	A	T	2: 118,887,782 (GRCm39)	D2V	probably damaging	Het
Lrrc71	T	C	3: 87,650,258 (GRCm39)	I272V	possibly damaging	Het
Mdn1	T	C	4: 32,741,372 (GRCm39)	S3825P	probably damaging	Het
Mex3d	C	A	10: 80,218,129 (GRCm39)	V363L		Het
Mfsd13b	C	A	7: 120,598,134 (GRCm39)	H347N	possibly damaging	Het
Mllt1	G	T	17: 57,209,572 (GRCm39)	H179Q	probably benign	Het
Mmp14	A	T	14: 54,678,069 (GRCm39)	R563S	probably benign	Het
Ms4a18	T	C	19: 10,974,714 (GRCm39)	T326A	probably benign	Het
Muc16	T	C	9: 18,549,973 (GRCm39)	D5440G	probably benign	Het
Muc2	A	T	7: 141,300,559 (GRCm39)	E294V		Het
Myh7b	A	G	2: 155,459,641 (GRCm39)	N241S	probably damaging	Het
Myo1b	T	C	1: 51,796,404 (GRCm39)	I1007V	possibly damaging	Het
Or10j5	T	C	1: 172,784,893 (GRCm39)	F177S	probably damaging	Het
Or4a77	A	G	2: 89,487,005 (GRCm39)	V260A	possibly damaging	Het
Or8g33	T	A	9: 39,337,851 (GRCm39)	D172V	possibly damaging	Het
Pan2	T	C	10: 128,140,135 (GRCm39)	S19P	probably benign	Het
Pkn3	A	G	2: 29,976,723 (GRCm39)	D588G	probably null	Het
Pkp4	A	G	2: 59,178,104 (GRCm39)	N988D	possibly damaging	Het
Plxdc1	T	C	11: 97,824,844 (GRCm39)	D344G	probably damaging	Het
Plxna4	C	T	6: 32,192,169 (GRCm39)	R807H	possibly damaging	Het
Potefam3b	T	A	8: 21,174,962 (GRCm39)	F285I	possibly damaging	Het
Prdm15	A	T	16: 97,623,142 (GRCm39)	S237T	probably benign	Het
Sanbr	A	C	11: 23,531,642 (GRCm39)	M661R	possibly damaging	Het
Slc9a2	G	A	1: 40,721,061 (GRCm39)	V10M	probably benign	Het
Sytl2	T	C	7: 90,024,800 (GRCm39)	S263P	probably benign	Het
Taf7l2	A	T	10: 115,948,931 (GRCm39)	D198E	probably benign	Het
Trrap	G	A	5: 144,777,330 (GRCm39)	V3043M	probably damaging	Het
Tshz3	C	T	7: 36,470,492 (GRCm39)	T827I	possibly damaging	Het
Ttll1	T	C	15: 83,384,226 (GRCm39)	T134A	possibly damaging	Het
Vmn1r196	G	T	13: 22,477,920 (GRCm39)	M186I	probably damaging	Het
Vrk2	C	T	11: 26,433,157 (GRCm39)		probably null	Het
Zfp59	T	A	7: 27,554,483 (GRCm39)	V645E	probably benign	Het

Other mutations in 2310057J18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:2310057J18Rik	APN	10	28,849,954 (GRCm39)	nonsense	probably null
IGL01123:2310057J18Rik	APN	10	28,849,934 (GRCm39)	missense	probably damaging	1.00
IGL01989:2310057J18Rik	APN	10	28,862,266 (GRCm39)	missense	probably damaging	0.99
IGL02268:2310057J18Rik	APN	10	28,862,242 (GRCm39)	missense	probably benign	0.09
R0114:2310057J18Rik	UTSW	10	28,861,978 (GRCm39)	splice site	probably benign
R1585:2310057J18Rik	UTSW	10	28,858,518 (GRCm39)	missense	possibly damaging	0.95
R1642:2310057J18Rik	UTSW	10	28,862,233 (GRCm39)	missense	probably benign	0.44
R2271:2310057J18Rik	UTSW	10	28,857,575 (GRCm39)	missense	probably damaging	0.98
R4692:2310057J18Rik	UTSW	10	28,849,882 (GRCm39)	nonsense	probably null
R4801:2310057J18Rik	UTSW	10	28,859,922 (GRCm39)	critical splice donor site	probably null
R4802:2310057J18Rik	UTSW	10	28,859,922 (GRCm39)	critical splice donor site	probably null
R5548:2310057J18Rik	UTSW	10	28,849,863 (GRCm39)	missense	probably benign	0.06
R5677:2310057J18Rik	UTSW	10	28,862,225 (GRCm39)	missense	probably benign	0.00
R7260:2310057J18Rik	UTSW	10	28,849,882 (GRCm39)	missense	probably benign	0.07
R8024:2310057J18Rik	UTSW	10	28,862,213 (GRCm39)	missense	possibly damaging	0.62
R8024:2310057J18Rik	UTSW	10	28,858,591 (GRCm39)	nonsense	probably null
R8685:2310057J18Rik	UTSW	10	28,862,140 (GRCm39)	missense	probably damaging	1.00
R9326:2310057J18Rik	UTSW	10	28,849,882 (GRCm39)	nonsense	probably null
X0060:2310057J18Rik	UTSW	10	28,858,506 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- TGGGCAGTTCCTGTCATCATATG -3'
(R):5'- AGTTTGGCACCATGGCTGTC -3'

Sequencing Primer
(F):5'- AATGAGTTAGGCCTGCTCAC -3'
(R):5'- ACCATGGCTGTCCTGGC -3'

Posted On

2022-08-09