Mutagenetix > Incidental Mutation

Incidental Mutation 'R9326:2310057J18Rik'

706534

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 #

R9326 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28848284-28862299 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 28849882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 230 (Y230*)

Ref Sequence

ENSEMBL: ENSMUSP00000118049 (fasta)

Gene Model

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

AlphaFold

Q8C6C9

Predicted Effect

probably benign
Transcript: ENSMUST00000015663
AA Change: S293T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015663
Gene: ENSMUSG00000015519
AA Change: S293T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140558
AA Change: S185T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121044
Gene: ENSMUSG00000015519
AA Change: S185T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141350

Predicted Effect

probably null
Transcript: ENSMUST00000152363
AA Change: Y230*

SMART Domains

Protein: ENSMUSP00000118049
Gene: ENSMUSG00000015519
AA Change: Y230*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

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

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,036,238 (GRCm39)	S1015P	probably benign	Het
Adamts8	A	G	9: 30,854,886 (GRCm39)	T252A	probably benign	Het
Adamtsl1	T	A	4: 86,150,804 (GRCm39)	S149T	possibly damaging	Het
Afp	A	G	5: 90,652,205 (GRCm39)	K399E	probably damaging	Het
Atp8b1	T	A	18: 64,706,344 (GRCm39)	S222C	probably damaging	Het
Ccdc88c	C	A	12: 100,995,109 (GRCm39)		probably benign	Het
Cfap276	C	T	3: 108,451,931 (GRCm39)	R159W	probably damaging	Het
Cip2a	G	A	16: 48,834,235 (GRCm39)		probably null	Het
Cluh	A	G	11: 74,554,902 (GRCm39)	K780R	probably benign	Het
Cope	C	A	8: 70,755,516 (GRCm39)	F20L	possibly damaging	Het
Cps1	G	T	1: 67,248,795 (GRCm39)	R1174L	probably damaging	Het
Csmd1	G	A	8: 16,049,803 (GRCm39)	T2271I	probably benign	Het
Ctbp2	A	G	7: 132,616,359 (GRCm39)	I192T	probably benign	Het
Dcun1d4	A	G	5: 73,680,018 (GRCm39)	T106A	probably benign	Het
Ddb2	A	T	2: 91,047,559 (GRCm39)	M240K	probably benign	Het
Ddx20	A	T	3: 105,591,735 (GRCm39)	V145D	probably damaging	Het
Ddx31	A	G	2: 28,749,008 (GRCm39)	D268G	probably damaging	Het
Drc7	A	G	8: 95,801,886 (GRCm39)	I716V	probably benign	Het
Epb41l4a	G	T	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Exog	A	G	9: 119,291,554 (GRCm39)	N277S	probably damaging	Het
Fzd7	T	C	1: 59,522,837 (GRCm39)	L240P	possibly damaging	Het
Gpr87	T	C	3: 59,086,609 (GRCm39)	T299A	probably damaging	Het
Hecw2	A	G	1: 54,079,369 (GRCm39)	Y95H	probably damaging	Het
Idh1	T	C	1: 65,205,416 (GRCm39)	Y183C	probably damaging	Het
Ighv14-4	T	A	12: 114,140,469 (GRCm39)	I7F	possibly damaging	Het
Il1rap	A	T	16: 26,495,641 (GRCm39)	I83F	probably damaging	Het
Jag1	A	G	2: 136,931,745 (GRCm39)	S609P	probably benign	Het
Klhl33	T	C	14: 51,134,615 (GRCm39)	E9G	possibly damaging	Het
Lama2	A	G	10: 26,906,193 (GRCm39)	F2421L	probably benign	Het
Lmod2	A	T	6: 24,597,999 (GRCm39)	I40F	probably damaging	Het
Lsm5	A	T	6: 56,681,616 (GRCm39)	L13Q	possibly damaging	Het
Man2c1	G	T	9: 57,042,904 (GRCm39)	C258F	probably damaging	Het
Mgst1	T	C	6: 138,120,023 (GRCm39)	S28P	probably benign	Het
Msh3	A	T	13: 92,400,307 (GRCm39)	V744E	probably benign	Het
Mtx2	C	T	2: 74,656,287 (GRCm39)		probably benign	Het
N4bp3	C	T	11: 51,535,313 (GRCm39)	R292H	probably benign	Het
Neto2	A	T	8: 86,369,063 (GRCm39)	W354R	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nutm1	A	T	2: 112,078,692 (GRCm39)	S1074R	possibly damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or10ag56	T	A	2: 87,139,730 (GRCm39)	M219K	probably benign	Het
Or5aq1	T	C	2: 86,966,647 (GRCm39)	H6R	probably benign	Het
Or7g29	A	T	9: 19,286,346 (GRCm39)	M277K	probably damaging	Het
Or8s8	T	C	15: 98,354,935 (GRCm39)	V248A	probably damaging	Het
Pi4kb	T	A	3: 94,900,506 (GRCm39)		probably null	Het
Rgsl1	C	T	1: 153,679,768 (GRCm39)	D103N	probably benign	Het
Rrbp1	G	A	2: 143,806,744 (GRCm39)	T958M	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Setd2	T	C	9: 110,378,671 (GRCm39)	C829R	probably benign	Het
Snd1	A	T	6: 28,795,842 (GRCm39)	R562*	probably null	Het
Snx27	A	T	3: 94,409,369 (GRCm39)	Y526N	probably damaging	Het
Stab2	A	G	10: 86,791,010 (GRCm39)	L483P	probably damaging	Het
Sybu	A	G	15: 44,537,019 (GRCm39)	S436P	probably damaging	Het
Thy1	A	G	9: 43,957,983 (GRCm39)	D37G	probably damaging	Het
Tmed8	A	T	12: 87,221,395 (GRCm39)	I126N	probably damaging	Het
Tmem161b	T	A	13: 84,440,602 (GRCm39)	L340*	probably null	Het
Tpr	C	T	1: 150,301,407 (GRCm39)	A1331V	possibly damaging	Het
Tprg1	G	A	16: 25,136,107 (GRCm39)	E33K	probably benign	Het
Vps26b	T	C	9: 26,930,627 (GRCm39)	N123D	probably damaging	Het
Wdr7	G	A	18: 63,872,260 (GRCm39)	S398N	probably benign	Het
Zbtb48	T	C	4: 152,111,509 (GRCm39)	D2G	probably damaging	Het
Zfp975	G	A	7: 42,311,837 (GRCm39)	R259*	probably null	Het
Zfp986	T	A	4: 145,626,451 (GRCm39)	H370Q	probably damaging	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
R9583:2310057J18Rik	UTSW	10	28,862,092 (GRCm39)	missense	probably damaging	1.00
X0060:2310057J18Rik	UTSW	10	28,858,506 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GGCATTTAAATGAAGGGTCACATC -3'
(R):5'- TGAGGAAAACTGGGCTATTGCTG -3'

Sequencing Primer
(F):5'- AAATGTGGTTGATCATTGGTTTTACC -3'
(R):5'- CTGTGAACTATTTAGCGGCAGCC -3'

Posted On

2022-04-18