Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:D630023F18Rik'

543629

Institutional Source

Beutler Lab

Gene Symbol

D630023F18Rik

Ensembl Gene

ENSMUSG00000044816

Gene Name

RIKEN cDNA D630023F18 gene

Synonyms

MMRRC Submission

044918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65144444-65162373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65156365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 43 (S43G)

Ref Sequence

ENSEMBL: ENSMUSP00000115574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050047] [ENSMUST00000144760] [ENSMUST00000148020] [ENSMUST00000153330]

AlphaFold

no structure available at present

Predicted Effect

silent
Transcript: ENSMUST00000050047

SMART Domains

Protein: ENSMUSP00000056196
Gene: ENSMUSG00000044816

Domain	Start	End	E-Value	Type
low complexity region	165	179	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000144760

SMART Domains

Protein: ENSMUSP00000140504
Gene: ENSMUSG00000100846

Domain	Start	End	E-Value	Type
low complexity region	97	111	N/A	INTRINSIC
low complexity region	124	150	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000148020

SMART Domains

Protein: ENSMUSP00000120090
Gene: ENSMUSG00000044816

Domain	Start	End	E-Value	Type
low complexity region	159	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153330
AA Change: S43G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,946,744 (GRCm39)	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,415,810 (GRCm39)		probably benign	Het
Aadac	A	C	3: 59,944,757 (GRCm39)	D143A	probably benign	Het
Acot10	T	G	15: 20,665,452 (GRCm39)	T430P	probably benign	Het
Adgrb3	T	C	1: 25,865,253 (GRCm39)	T197A	possibly damaging	Het
Bbs1	A	G	19: 4,950,643 (GRCm39)	I200T	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103 (GRCm38)	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,838,673 (GRCm39)	E48G	probably damaging	Het
Clca3a1	A	T	3: 144,724,428 (GRCm39)	C211S	probably damaging	Het
Col18a1	A	G	10: 76,890,073 (GRCm39)	L1429P	probably damaging	Het
Cplane1	T	C	15: 8,273,790 (GRCm39)	V2591A	probably benign	Het
Cul2	T	G	18: 3,421,263 (GRCm39)	Y196D	probably damaging	Het
Ddx39a	G	A	8: 84,449,766 (GRCm39)	R427Q	probably damaging	Het
Def6	A	G	17: 28,442,691 (GRCm39)	T285A	probably damaging	Het
Defb21	T	A	2: 152,416,789 (GRCm39)	D88E	probably benign	Het
Defb6	A	G	8: 19,278,117 (GRCm39)	K63R	probably benign	Het
Dnph1	T	C	17: 46,809,670 (GRCm39)	S112P	probably damaging	Het
Dock10	T	A	1: 80,564,407 (GRCm39)	I467L	probably benign	Het
Dspp	C	A	5: 104,323,716 (GRCm39)	H286Q	probably benign	Het
Eya1	T	A	1: 14,253,501 (GRCm39)	T459S	probably benign	Het
Faf1	T	C	4: 109,719,049 (GRCm39)	L385P	probably damaging	Het
Fbxw21	C	A	9: 108,986,633 (GRCm39)	R82L	probably damaging	Het
Fryl	A	G	5: 73,222,437 (GRCm39)	V2048A	probably benign	Het
Galnt5	A	T	2: 57,925,311 (GRCm39)	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460 (GRCm39)	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,250,946 (GRCm39)	R434L	probably damaging	Het
Gga3	A	G	11: 115,476,588 (GRCm39)	F709L	probably damaging	Het
Hcar1	A	G	5: 124,017,193 (GRCm39)	V166A	probably benign	Het
Hexa	T	A	9: 59,471,220 (GRCm39)	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,282,760 (GRCm39)	C164*	probably null	Het
Ifi202b	T	C	1: 173,802,555 (GRCm39)	Y93C	probably damaging	Het
Iftap	T	C	2: 101,396,804 (GRCm39)	K192E	probably benign	Het
Iscu	T	A	5: 113,913,304 (GRCm39)	I79N	probably damaging	Het
Jmjd7	T	A	2: 119,861,804 (GRCm39)	Y182*	probably null	Het
Jup	A	T	11: 100,274,284 (GRCm39)	D135E	probably benign	Het
Kit	T	A	5: 75,813,468 (GRCm39)	I881N	probably damaging	Het
Llgl1	T	A	11: 60,593,691 (GRCm39)	S55T	probably benign	Het
Lonp2	G	A	8: 87,435,724 (GRCm39)	M653I	probably benign	Het
Lrp8	T	C	4: 107,711,517 (GRCm39)	Y307H	probably damaging	Het
Med13	A	T	11: 86,169,622 (GRCm39)	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,230,537 (GRCm39)		probably null	Het
Naip1	A	G	13: 100,563,849 (GRCm39)	S439P	probably benign	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Or10ag59	T	A	2: 87,405,262 (GRCm39)		probably null	Het
Or7g20	G	T	9: 18,946,597 (GRCm39)	M59I	probably damaging	Het
Pds5b	T	A	5: 150,729,026 (GRCm39)		probably null	Het
Phf12	G	A	11: 77,918,199 (GRCm39)	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,414,074 (GRCm39)	T234A		Het
Prune2	A	T	19: 17,097,954 (GRCm39)	I1153L	probably benign	Het
Ptprc	C	T	1: 137,995,623 (GRCm39)		probably null	Het
Qpctl	T	C	7: 18,883,079 (GRCm39)	Q11R	probably benign	Het
Rfx4	A	G	10: 84,676,092 (GRCm39)	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,442,806 (GRCm39)		probably null	Het
St6galnac1	G	T	11: 116,659,770 (GRCm39)	A181D	probably damaging	Het
Stk36	T	C	1: 74,661,398 (GRCm39)	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,268,571 (GRCm39)	T263A	possibly damaging	Het
Tex24	A	T	8: 27,835,028 (GRCm39)	K185N	probably damaging	Het
Tnxb	T	A	17: 34,917,127 (GRCm39)	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,444,582 (GRCm39)	S57P	probably benign	Het
Zbtb49	A	G	5: 38,370,585 (GRCm39)		probably benign	Het
Zfp758	A	G	17: 22,580,650 (GRCm39)	T30A	probably benign	Het

Other mutations in D630023F18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0167:D630023F18Rik	UTSW	1	65,156,340 (GRCm39)	missense	possibly damaging	0.94
R7814:D630023F18Rik	UTSW	1	65,155,850 (GRCm39)	missense	possibly damaging	0.54
R8293:D630023F18Rik	UTSW	1	65,147,939 (GRCm39)	missense	probably benign	0.17
R8948:D630023F18Rik	UTSW	1	65,147,899 (GRCm39)	missense	probably damaging	0.99
R9145:D630023F18Rik	UTSW	1	65,160,371 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AATCCAAGGCATTTAGAAGCGAC -3'
(R):5'- GTGTCACACCTTAGCTTGTGTC -3'

Sequencing Primer
(F):5'- GGCATTTAGAAGCGACATTAAAAAC -3'
(R):5'- AGGTCTCAGTCAGTCAGCACTTAG -3'

Posted On

2019-04-08