Mutagenetix > Incidental Mutation

Incidental Mutation 'R5548:2310057J18Rik'

434997

Institutional Source

Beutler Lab

Gene Symbol

2310057J18Rik

Ensembl Gene

ENSMUSG00000015519

Gene Name

RIKEN cDNA 2310057J18 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5548 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28848284-28862299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28849863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 191 (D191G)

Ref Sequence

ENSEMBL: ENSMUSP00000121044 (fasta)

Gene Model

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

AlphaFold

Q8C6C9

Predicted Effect

probably benign
Transcript: ENSMUST00000015663
AA Change: D299G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000015663
Gene: ENSMUSG00000015519
AA Change: D299G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140558
AA Change: D191G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121044
Gene: ENSMUSG00000015519
AA Change: D191G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141350

Predicted Effect

probably benign
Transcript: ENSMUST00000152363
AA Change: I237V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118049
Gene: ENSMUSG00000015519
AA Change: I237V

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Cdh12	C	T	15: 21,492,740 (GRCm39)	T253I	probably damaging	Het
Cox4i2	C	T	2: 152,599,011 (GRCm39)	T56I	possibly damaging	Het
Cpsf1	A	C	15: 76,481,527 (GRCm39)	D1141E	possibly damaging	Het
Dennd5b	T	C	6: 148,920,847 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,128,672 (GRCm39)	D1194E	probably damaging	Het
Dst	C	A	1: 34,228,409 (GRCm39)	H1676N	probably benign	Het
Eif4a3l1	T	C	6: 136,306,568 (GRCm39)	V343A	probably damaging	Het
Fitm1	A	G	14: 55,813,154 (GRCm39)	T6A	probably benign	Het
Galnt5	T	A	2: 57,904,922 (GRCm39)	V495E	probably damaging	Het
Gtf2h2	C	A	13: 100,617,544 (GRCm39)	R206L	possibly damaging	Het
Heatr5a	A	T	12: 52,005,734 (GRCm39)	Y80*	probably null	Het
Il17ra	A	G	6: 120,455,434 (GRCm39)	R348G	probably benign	Het
Mmp28	A	T	11: 83,334,733 (GRCm39)	Y340*	probably null	Het
Mrgprb8	A	T	7: 48,038,778 (GRCm39)	T150S	probably benign	Het
Ms4a10	A	T	19: 10,945,484 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Mybbp1a	T	C	11: 72,336,998 (GRCm39)	L578P	probably damaging	Het
N4bp2l1	G	A	5: 150,496,420 (GRCm39)	R65*	probably null	Het
Nhsl3	GGTG	GGTGTG	4: 129,117,773 (GRCm39)		probably null	Het
Nup188	T	A	2: 30,216,505 (GRCm39)	Y770N	probably damaging	Het
Or8b3b	T	C	9: 38,584,600 (GRCm39)	I60V	probably benign	Het
Or8s5	T	A	15: 98,238,253 (GRCm39)	T206S	probably benign	Het
Pbrm1	T	A	14: 30,827,381 (GRCm39)	C1257S	probably damaging	Het
Pcdh8	T	C	14: 80,004,942 (GRCm39)	T1028A	probably damaging	Het
Pramel16	C	T	4: 143,676,550 (GRCm39)	E185K	probably benign	Het
Qars1	C	T	9: 108,390,117 (GRCm39)	P348S	possibly damaging	Het
Qrfpr	T	A	3: 36,276,075 (GRCm39)	Q105L	possibly damaging	Het
Slc10a5	A	T	3: 10,399,377 (GRCm39)	Y428N	probably benign	Het
Slc16a5	A	T	11: 115,360,630 (GRCm39)	Y271F	probably benign	Het
Slc1a4	T	A	11: 20,254,429 (GRCm39)	Q479L	possibly damaging	Het
Slc38a1	C	T	15: 96,488,355 (GRCm39)	G143S	probably damaging	Het
Susd1	G	A	4: 59,369,577 (GRCm39)	T364M	probably benign	Het
Tmem132c	T	A	5: 127,628,587 (GRCm39)	Y496*	probably null	Het
Tmem63b	A	G	17: 45,975,884 (GRCm39)	I523T	probably damaging	Het
Tnrc6c	T	C	11: 117,651,669 (GRCm39)	S1731P	possibly damaging	Het
Ttll3	T	A	6: 113,370,078 (GRCm39)	W139R	probably damaging	Het
Ubr4	C	T	4: 139,187,401 (GRCm39)	T3823M	probably damaging	Het
Vangl1	T	A	3: 102,091,762 (GRCm39)	D108V	possibly damaging	Het
Vmn1r120	T	C	7: 20,787,482 (GRCm39)	I76M	probably benign	Het
Wdr17	A	G	8: 55,156,886 (GRCm39)	Y17H	probably damaging	Het
Xkr4	C	T	1: 3,287,153 (GRCm39)	A346T	probably damaging	Het
Zfp267	C	G	3: 36,219,640 (GRCm39)	H554Q	possibly damaging	Het
Zfp600	T	A	4: 146,133,019 (GRCm39)	S562R	possibly 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
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
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'- GCTGTGAACTATTTAGCGGCAG -3'

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

Posted On

2016-10-24