Mutagenetix > Incidental Mutation

Incidental Mutation 'R2398:4930568D16Rik'

248581

Institutional Source

Beutler Lab

Gene Symbol

4930568D16Rik

Ensembl Gene

ENSMUSG00000026882

Gene Name

RIKEN cDNA 4930568D16 gene

Synonyms

MMRRC Submission

040365-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R2398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35244230-35257741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35244872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 160 (D160G)

Ref Sequence

ENSEMBL: ENSMUSP00000028243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028243]

AlphaFold

A2AUQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028243
AA Change: D160G

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028243
Gene: ENSMUSG00000026882
AA Change: D160G

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	11	319	1.3e-101	PFAM

Meta Mutation Damage Score

0.6551

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	T	C	13: 4,499,035 (GRCm39)	S208P	probably benign	Het
Ap3b2	A	G	7: 81,126,943 (GRCm39)	F269S	probably damaging	Het
Ap3d1	G	A	10: 80,555,006 (GRCm39)	Q440*	probably null	Het
Cog2	T	C	8: 125,256,665 (GRCm39)	I137T	probably benign	Het
Cse1l	A	G	2: 166,770,917 (GRCm39)	Y369C	probably damaging	Het
Dnah9	T	C	11: 65,806,029 (GRCm39)	N3357D	probably damaging	Het
Fam83b	T	C	9: 76,409,500 (GRCm39)	T209A	probably damaging	Het
Gbp2	G	A	3: 142,339,123 (GRCm39)	A392T	probably benign	Het
Grsf1	G	A	5: 88,821,695 (GRCm39)	T123I	probably damaging	Het
Gzmc	T	A	14: 56,470,228 (GRCm39)	I90F	possibly damaging	Het
Hook2	T	A	8: 85,717,928 (GRCm39)	N42K	probably damaging	Het
Hsp90aa1	T	C	12: 110,658,755 (GRCm39)	M629V	possibly damaging	Het
Ifna14	T	C	4: 88,489,863 (GRCm39)	D58G	possibly damaging	Het
Krtap4-8	T	C	11: 99,671,103 (GRCm39)		probably benign	Het
Mocs1	T	C	17: 49,759,862 (GRCm39)	I381T	probably damaging	Het
Nbas	A	G	12: 13,482,946 (GRCm39)	T1408A	probably damaging	Het
Or6c219	A	G	10: 129,781,076 (GRCm39)	F285S	probably benign	Het
Or8j3b	T	A	2: 86,205,183 (GRCm39)	D191V	probably damaging	Het
Orc1	C	T	4: 108,459,166 (GRCm39)	T445I	possibly damaging	Het
Pdik1l	T	C	4: 134,005,710 (GRCm39)	K411E	probably benign	Het
Pias3	A	G	3: 96,611,129 (GRCm39)	I443V	probably benign	Het
Psmd2	T	C	16: 20,478,222 (GRCm39)	S536P	possibly damaging	Het
Rnf10	C	T	5: 115,385,332 (GRCm39)	R554H	probably benign	Het
Smarcc2	C	T	10: 128,305,551 (GRCm39)	T325I	possibly damaging	Het
Smchd1	C	A	17: 71,667,136 (GRCm39)	C1752F	probably damaging	Het
Smchd1	G	A	17: 71,733,431 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,060,613 (GRCm39)		probably null	Het
Tex52	T	C	6: 128,356,540 (GRCm39)	S78P	probably damaging	Het
Tmem63c	T	G	12: 87,103,307 (GRCm39)	V27G	probably damaging	Het
Ttc41	A	G	10: 86,549,250 (GRCm39)	N148S	possibly damaging	Het
Vmn2r67	T	C	7: 84,785,921 (GRCm39)	I695V	probably damaging	Het
Wipf2	T	A	11: 98,789,543 (GRCm39)		probably null	Het
Zc3h18	A	G	8: 123,140,605 (GRCm39)		probably benign	Het
Zfp804a	T	A	2: 82,089,013 (GRCm39)	N947K	possibly damaging	Het
Zfyve26	T	C	12: 79,329,573 (GRCm39)		probably null	Het
Zic2	G	T	14: 122,716,329 (GRCm39)	E422*	probably null	Het
Zmym4	A	T	4: 126,816,929 (GRCm39)	D4E	probably damaging	Het

Other mutations in 4930568D16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:4930568D16Rik	APN	2	35,245,640 (GRCm39)	missense	probably benign	0.36
IGL01701:4930568D16Rik	APN	2	35,254,776 (GRCm39)	missense	possibly damaging	0.95
IGL02049:4930568D16Rik	APN	2	35,254,801 (GRCm39)	missense	probably benign	0.03
R0112:4930568D16Rik	UTSW	2	35,244,815 (GRCm39)	missense	probably benign	0.06
R1778:4930568D16Rik	UTSW	2	35,244,995 (GRCm39)	missense	probably damaging	1.00
R3846:4930568D16Rik	UTSW	2	35,244,570 (GRCm39)	missense	probably damaging	1.00
R4648:4930568D16Rik	UTSW	2	35,244,458 (GRCm39)	missense	probably damaging	1.00
R5239:4930568D16Rik	UTSW	2	35,244,848 (GRCm39)	missense	probably benign	0.38
R5418:4930568D16Rik	UTSW	2	35,244,738 (GRCm39)	missense	probably damaging	1.00
R5889:4930568D16Rik	UTSW	2	35,244,461 (GRCm39)	missense	probably damaging	1.00
R5951:4930568D16Rik	UTSW	2	35,244,811 (GRCm39)	missense	probably damaging	1.00
R6014:4930568D16Rik	UTSW	2	35,244,881 (GRCm39)	missense	probably benign	0.00
R6091:4930568D16Rik	UTSW	2	35,252,348 (GRCm39)	missense	possibly damaging	0.77
R7363:4930568D16Rik	UTSW	2	35,244,782 (GRCm39)	missense	probably damaging	1.00
R7773:4930568D16Rik	UTSW	2	35,244,606 (GRCm39)	missense	probably damaging	1.00
R8776:4930568D16Rik	UTSW	2	35,245,002 (GRCm39)	missense	probably benign	0.01
R8776-TAIL:4930568D16Rik	UTSW	2	35,245,002 (GRCm39)	missense	probably benign	0.01
R9108:4930568D16Rik	UTSW	2	35,244,942 (GRCm39)	missense	probably damaging	1.00
R9367:4930568D16Rik	UTSW	2	35,244,939 (GRCm39)	missense	probably benign	0.03
R9566:4930568D16Rik	UTSW	2	35,244,645 (GRCm39)	nonsense	probably null
R9673:4930568D16Rik	UTSW	2	35,244,399 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGATGAAAGCTGCAGATTTAGTTC -3'
(R):5'- AGCTTTTCAAAAGAGCCCCTG -3'

Sequencing Primer
(F):5'- AGTTCTTCTCTCATAGGGGAAGTCTC -3'
(R):5'- CTGAGACGCTTCATAAAGTCTGCTG -3'

Posted On

2014-11-11