Mutagenetix > Incidental Mutation

Incidental Mutation 'R5265:1700017B05Rik'

401664

Institutional Source

Beutler Lab

Gene Symbol

1700017B05Rik

Ensembl Gene

ENSMUSG00000032300

Gene Name

RIKEN cDNA 1700017B05 gene

Synonyms

D9Ertd278e

MMRRC Submission

042833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R5265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57253117-57262612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57258894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 66 (W66R)

Ref Sequence

ENSEMBL: ENSMUSP00000150884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034846] [ENSMUST00000213199] [ENSMUST00000215298] [ENSMUST00000217657]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034846
AA Change: W66R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: W66R

Domain	Start	End	E-Value	Type
low complexity region	265	284	N/A	INTRINSIC
low complexity region	293	299	N/A	INTRINSIC
low complexity region	334	347	N/A	INTRINSIC
low complexity region	649	675	N/A	INTRINSIC
low complexity region	692	728	N/A	INTRINSIC
low complexity region	785	799	N/A	INTRINSIC
low complexity region	933	951	N/A	INTRINSIC
low complexity region	963	977	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213199
AA Change: W66R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214583

Predicted Effect

probably benign
Transcript: ENSMUST00000215298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215426

Predicted Effect

probably damaging
Transcript: ENSMUST00000217657
AA Change: W66R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6574

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	A	G	5: 89,861,552	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228	E290*	probably null	Het
Cant1	G	A	11: 118,408,050	R296C	probably damaging	Het
Ccdc114	T	A	7: 45,947,435	D395E	probably damaging	Het
Cdh5	A	T	8: 104,142,739	H699L	probably benign	Het
Cfdp1	T	C	8: 111,830,985	T175A	probably benign	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270	V155D	probably damaging	Het
Dag1	A	G	9: 108,207,699	Y748H	possibly damaging	Het
Dmwd	T	A	7: 19,080,281	N285K	possibly damaging	Het
Dsp	A	G	13: 38,195,183	E1968G	possibly damaging	Het
Ednra	A	G	8: 77,667,375	I364T	probably damaging	Het
Elovl3	C	A	19: 46,134,681	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496		probably null	Het
H2-DMb2	G	T	17: 34,148,562	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523	M1R	probably null	Het
Naip2	G	A	13: 100,152,560	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530		probably null	Het
Palmd	A	T	3: 116,923,849	V333D	possibly damaging	Het
Pikfyve	A	G	1: 65,267,829	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434	I198T	probably damaging	Het
Slc45a3	T	A	1: 131,978,194	D318E	possibly damaging	Het
Sorl1	A	G	9: 42,106,516	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470		probably benign	Het
Syt5	C	T	7: 4,541,075		probably null	Het
Thrap3	A	G	4: 126,167,640	S774P	probably damaging	Het
Tnc	A	T	4: 63,993,206	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623	P210L	possibly damaging	Het

Other mutations in 1700017B05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:1700017B05Rik	APN	9	57258246	missense	probably damaging	1.00
IGL01287:1700017B05Rik	APN	9	57257757	missense	probably damaging	1.00
IGL01798:1700017B05Rik	APN	9	57256638	missense	probably benign	0.10
IGL01933:1700017B05Rik	APN	9	57257367	missense	possibly damaging	0.95
IGL02146:1700017B05Rik	APN	9	57256740	missense	possibly damaging	0.82
IGL02158:1700017B05Rik	APN	9	57256619	splice site	probably null
IGL02277:1700017B05Rik	APN	9	57258425	missense	probably benign	0.05
IGL02707:1700017B05Rik	APN	9	57258645	missense	probably benign
IGL02887:1700017B05Rik	APN	9	57258885	missense	probably damaging	1.00
IGL02936:1700017B05Rik	APN	9	57258404	missense	possibly damaging	0.69
R0583:1700017B05Rik	UTSW	9	57257643	missense	probably benign	0.04
R0926:1700017B05Rik	UTSW	9	57257549	missense	probably damaging	0.99
R1812:1700017B05Rik	UTSW	9	57257457	nonsense	probably null
R1903:1700017B05Rik	UTSW	9	57258352	missense	possibly damaging	0.69
R4542:1700017B05Rik	UTSW	9	57256592	missense	probably damaging	1.00
R4596:1700017B05Rik	UTSW	9	57257805	missense	probably benign	0.03
R4631:1700017B05Rik	UTSW	9	57257987	missense	probably damaging	1.00
R4869:1700017B05Rik	UTSW	9	57254205	missense	probably damaging	1.00
R5361:1700017B05Rik	UTSW	9	57257185	missense	probably damaging	1.00
R6216:1700017B05Rik	UTSW	9	57257627	missense	probably benign	0.33
R6356:1700017B05Rik	UTSW	9	57254009	missense	probably benign	0.11
R6579:1700017B05Rik	UTSW	9	57254224	missense	possibly damaging	0.89
R6774:1700017B05Rik	UTSW	9	57256625	missense	probably damaging	1.00
R6921:1700017B05Rik	UTSW	9	57258736	missense	probably damaging	1.00
R7089:1700017B05Rik	UTSW	9	57258758	missense	probably damaging	1.00
R7196:1700017B05Rik	UTSW	9	57258222	frame shift	probably null
R7197:1700017B05Rik	UTSW	9	57258222	frame shift	probably null
R7728:1700017B05Rik	UTSW	9	57256539	missense	probably damaging	1.00
R7770:1700017B05Rik	UTSW	9	57258611	missense	probably damaging	0.99
R7812:1700017B05Rik	UTSW	9	57257858	missense	probably damaging	0.99
R8141:1700017B05Rik	UTSW	9	57258405	missense	probably benign
R8144:1700017B05Rik	UTSW	9	57259105	start gained	probably benign
R8925:1700017B05Rik	UTSW	9	57258522	nonsense	probably null
R8927:1700017B05Rik	UTSW	9	57258522	nonsense	probably null
R9186:1700017B05Rik	UTSW	9	57257189	missense	probably damaging	0.99
R9194:1700017B05Rik	UTSW	9	57259088	start codon destroyed	probably null	1.00
R9299:1700017B05Rik	UTSW	9	57256509	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CGTAACACAAAGGGTTGCGG -3'
(R):5'- CCTTCATAGTAATGGCAGAGAAGC -3'

Sequencing Primer
(F):5'- TAGACAGGCTTGGGCGC -3'
(R):5'- AGAGAAGCGGCCCCTAG -3'

Posted On

2016-07-06