Mutagenetix > Incidental Mutation

Incidental Mutation 'R3967:1700018B08Rik'

312399

Institutional Source

Beutler Lab

Gene Symbol

1700018B08Rik

Ensembl Gene

ENSMUSG00000031809

Gene Name

RIKEN cDNA 1700018B08 gene

Synonyms

MMRRC Submission

040838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R3967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122257519-122271059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122266719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 56 (Q56K)

Ref Sequence

ENSEMBL: ENSMUSP00000138106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034265] [ENSMUST00000127664] [ENSMUST00000182460] [ENSMUST00000182739] [ENSMUST00000183280]

AlphaFold

Q9DA83

Predicted Effect

probably benign
Transcript: ENSMUST00000034265
AA Change: Q37K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034265
Gene: ENSMUSG00000031809
AA Change: Q37K

Domain	Start	End	E-Value	Type
Pfam:DUF4568	3	213	1.4e-118	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182145

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182460
AA Change: Q56K

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138106
Gene: ENSMUSG00000031809
AA Change: Q56K

Domain	Start	End	E-Value	Type
Pfam:DUF4568	23	188	7.2e-90	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000182739
AA Change: P38Q

Predicted Effect

silent
Transcript: ENSMUST00000183280

SMART Domains

Protein: ENSMUSP00000138141
Gene: ENSMUSG00000031809

Domain	Start	End	E-Value	Type
Pfam:DUF4568	3	48	2.1e-6	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	A	8: 25,119,726 (GRCm39)	V518L	probably benign	Het
Akap6	A	T	12: 53,188,236 (GRCm39)	K1883N	probably damaging	Het
Arhgef12	C	A	9: 42,916,847 (GRCm39)	R432L	probably damaging	Het
Armcx6	G	T	X: 133,650,505 (GRCm39)	H109N	possibly damaging	Het
Ctnnd2	C	A	15: 30,647,075 (GRCm39)	A257E	possibly damaging	Het
Depdc5	T	A	5: 33,101,459 (GRCm39)	C322*	probably null	Het
Enpp7	T	C	11: 118,881,827 (GRCm39)	I324T	probably damaging	Het
Gm14401	T	C	2: 176,778,789 (GRCm39)	Y292H	possibly damaging	Het
Gm6871	A	T	7: 41,196,148 (GRCm39)	H196Q	probably damaging	Het
Gm9964	T	C	11: 79,187,202 (GRCm39)	T82A	unknown	Het
Gria2	T	A	3: 80,618,084 (GRCm39)	Q317L	possibly damaging	Het
Grtp1	G	A	8: 13,239,705 (GRCm39)	T134I	probably benign	Het
Itpkb	A	T	1: 180,155,363 (GRCm39)		probably benign	Het
Kbtbd12	A	G	6: 88,595,488 (GRCm39)	V114A	probably benign	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Ly75	T	C	2: 60,158,217 (GRCm39)	I1023V	possibly damaging	Het
Myof	C	T	19: 37,889,711 (GRCm39)	V1287M	probably damaging	Het
Myof	T	G	19: 38,011,058 (GRCm39)	D60A	possibly damaging	Het
Narf	A	T	11: 121,129,247 (GRCm39)	E10D	possibly damaging	Het
Nlrx1	A	T	9: 44,166,722 (GRCm39)		probably benign	Het
Or10a3m	A	G	7: 108,313,060 (GRCm39)	M155V	probably benign	Het
Or8b54	A	G	9: 38,686,664 (GRCm39)	T38A	probably benign	Het
Pabpc5	A	G	X: 118,838,321 (GRCm39)	E212G	probably benign	Het
Pidd1	A	G	7: 141,018,995 (GRCm39)	F829L	possibly damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Pkn2	A	G	3: 142,515,438 (GRCm39)	C658R	probably damaging	Het
Psd	C	T	19: 46,312,845 (GRCm39)	R175H	probably benign	Het
Rab39	G	A	9: 53,597,932 (GRCm39)	A111V	possibly damaging	Het
Rb1cc1	T	A	1: 6,318,494 (GRCm39)		probably benign	Het
Rnf39	C	A	17: 37,254,035 (GRCm39)	T19K	probably damaging	Het
Slc16a3	C	T	11: 120,846,251 (GRCm39)	T60M	possibly damaging	Het
Slc26a4	G	T	12: 31,578,686 (GRCm39)	H656N	probably damaging	Het
Slc27a1	A	G	8: 72,032,431 (GRCm39)	E184G	probably damaging	Het
Smc6	T	C	12: 11,348,327 (GRCm39)	V742A	probably benign	Het
Thoc1	T	A	18: 9,968,787 (GRCm39)	V186D	probably damaging	Het
Uhrf2	T	C	19: 30,057,315 (GRCm39)	V491A	probably damaging	Het
Uri1	A	G	7: 37,664,927 (GRCm39)	V253A	possibly damaging	Het
Vmn2r83	T	A	10: 79,327,154 (GRCm39)	N587K	probably benign	Het
Vmn2r88	A	T	14: 51,650,647 (GRCm39)	Y120F	probably benign	Het
Wwox	G	A	8: 115,215,673 (GRCm39)	A149T	probably damaging	Het
Zfp536	T	C	7: 37,173,255 (GRCm39)	*282W	probably null	Het

Other mutations in 1700018B08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02700:1700018B08Rik	APN	8	122,262,161 (GRCm39)	critical splice donor site	probably null
IGL03124:1700018B08Rik	APN	8	122,268,449 (GRCm39)	splice site	probably benign
R1475:1700018B08Rik	UTSW	8	122,267,327 (GRCm39)	splice site	probably benign
R2883:1700018B08Rik	UTSW	8	122,266,644 (GRCm39)	missense	probably damaging	1.00
R6281:1700018B08Rik	UTSW	8	122,258,620 (GRCm39)	missense	probably damaging	1.00
R6490:1700018B08Rik	UTSW	8	122,267,293 (GRCm39)	missense	probably benign	0.06
R6920:1700018B08Rik	UTSW	8	122,262,160 (GRCm39)	critical splice donor site	probably null
R6934:1700018B08Rik	UTSW	8	122,266,712 (GRCm39)	missense	probably benign	0.05
R8995:1700018B08Rik	UTSW	8	122,257,764 (GRCm39)	makesense	probably null
Z1177:1700018B08Rik	UTSW	8	122,266,721 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTTCAATGGGCTCTGGACC -3'
(R):5'- AGGATTCCCCACAAGCTAGC -3'

Sequencing Primer
(F):5'- TCTGGACCAGGACAGGTGTC -3'
(R):5'- ACAGCCATGTAGCCGCAG -3'

Posted On

2015-04-29