Mutagenetix > Incidental Mutation

Incidental Mutation 'R9194:1700017B05Rik'

697861

Institutional Source

Beutler Lab

Gene Symbol

1700017B05Rik

Ensembl Gene

ENSMUSG00000032300

Gene Name

RIKEN cDNA 1700017B05 gene

Synonyms

D9Ertd278e

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R9194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57253117-57262612 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 57259088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000034846 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000034846
AA Change: M1K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: M1K

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 null
Transcript: ENSMUST00000213199
AA Change: M1K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably null
Transcript: ENSMUST00000215298
AA Change: M1K

Predicted Effect

probably null
Transcript: ENSMUST00000217657
AA Change: M1K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1b	A	T	11: 43,835,436	V218D	probably damaging	Het
Ank1	A	G	8: 23,116,239	S1216G	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cfap44	G	T	16: 44,468,461	D1525Y	probably damaging	Het
Chd8	A	T	14: 52,202,193	M2341K	probably benign	Het
Chst11	A	G	10: 83,191,485	T249A	probably damaging	Het
Cttnbp2	A	G	6: 18,434,851	V336A	probably benign	Het
Dennd3	T	C	15: 73,547,304	L648P	probably benign	Het
Dgcr14	A	T	16: 17,910,164	D79E	probably damaging	Het
Dhx16	T	C	17: 35,889,281	V864A	probably benign	Het
Enpp3	G	A	10: 24,799,194	H362Y	possibly damaging	Het
Fam83c	T	A	2: 155,829,379	Y712F	probably damaging	Het
Helz	C	T	11: 107,670,287	Q1392*	probably null	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Iqch	T	C	9: 63,572,679	H143R	probably benign	Het
Itgb5	A	G	16: 33,900,511	D315G	probably damaging	Het
Kcnmb2	A	G	3: 32,182,025	K141R	probably benign	Het
Lrrc37a	G	A	11: 103,500,850	P1250S	probably benign	Het
Mcm5	T	G	8: 75,110,334	V110G	probably damaging	Het
Med27	G	A	2: 29,471,300	D163N	probably damaging	Het
Mms22l	C	A	4: 24,600,185	Y1129*	probably null	Het
Mov10l1	G	A	15: 89,046,820	R1081H	probably damaging	Het
Mtpap	C	G	18: 4,380,833	N170K	probably benign	Het
Mtpap	C	T	18: 4,380,834	Q171*	probably null	Het
Myo6	T	A	9: 80,246,554	F271I	unknown	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nfatc1	C	T	18: 80,708,043	A26T	probably benign	Het
Olfr867	C	A	9: 20,055,247	C72F	probably damaging	Het
Piezo2	G	C	18: 63,117,744	T428S	probably benign	Het
Prkch	A	G	12: 73,721,842	E462G	probably damaging	Het
Rbm20	A	G	19: 53,834,700	Y576C	probably damaging	Het
Riok3	TTTCATT	TTT	18: 12,149,585		probably null	Het
Rpp40	C	T	13: 35,896,915	D302N	probably benign	Het
Sash1	A	G	10: 8,740,205	V631A	probably damaging	Het
Sstr2	A	G	11: 113,624,377	T41A	probably benign	Het
Thsd7b	T	A	1: 129,915,634	V861E	possibly damaging	Het
Tomm70a	A	G	16: 57,152,707	K603E	possibly damaging	Het
Tpd52l2	T	A	2: 181,499,890	M22K	possibly damaging	Het
Tpst1	T	A	5: 130,102,019	L110Q	possibly damaging	Het
Tram1l1	A	G	3: 124,321,488	Y99C	possibly damaging	Het
Ttc39b	A	G	4: 83,263,740	F81L	possibly damaging	Het
Ubr1	A	G	2: 120,947,844	Y238H	probably damaging	Het
Vmn1r202	G	T	13: 22,502,146	H34N	possibly damaging	Het
Vmn1r36	G	A	6: 66,716,052	Q280*	probably null	Het
Xpnpep1	A	T	19: 53,011,858	V187E	possibly damaging	Het
Zfp592	A	G	7: 81,024,601	I438V	probably benign	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
R5265:1700017B05Rik	UTSW	9	57258894	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
R9299:1700017B05Rik	UTSW	9	57256509	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGTCAGTAGGTTGTCACCCC -3'
(R):5'- TGCAAGTGTCACTTCTGCAC -3'

Sequencing Primer
(F):5'- GCTCAGATCCTGCCTTCGAAG -3'
(R):5'- AAGTGTCACTTCTGCACGGAGTC -3'

Posted On

2022-02-07