Mutagenetix > Incidental Mutation

Incidental Mutation 'R7770:1700017B05Rik'

598537

Institutional Source

Beutler Lab

Gene Symbol

1700017B05Rik

Ensembl Gene

ENSMUSG00000032300

Gene Name

RIKEN cDNA 1700017B05 gene

Synonyms

D9Ertd278e

MMRRC Submission

045826-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57160400-57169895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57165894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 160 (V160E)

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 damaging
Transcript: ENSMUST00000034846
AA Change: V160E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: V160E

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: V160E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000215298

Predicted Effect

probably benign
Transcript: ENSMUST00000217657

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	T	8: 71,910,894 (GRCm39)	G305S	probably benign	Het
Adamts20	A	G	15: 94,231,579 (GRCm39)	V870A	probably benign	Het
Agl	A	G	3: 116,551,886 (GRCm39)		probably null	Het
Cav3	A	T	6: 112,449,147 (GRCm39)	D55V	probably damaging	Het
Ccser2	T	A	14: 36,648,831 (GRCm39)	D556V	probably damaging	Het
Cdc20b	T	C	13: 113,215,193 (GRCm39)	Y254H	probably benign	Het
Commd8	A	G	5: 72,317,223 (GRCm39)	L182S	probably damaging	Het
Cyp1b1	G	A	17: 80,020,728 (GRCm39)	A338V	probably damaging	Het
Def8	C	A	8: 124,186,798 (GRCm39)	D459E	unknown	Het
Dennd5b	T	C	6: 148,943,214 (GRCm39)	Y554C	probably damaging	Het
Dnah7c	A	T	1: 46,665,460 (GRCm39)		probably null	Het
Dnajc5b	T	A	3: 19,633,181 (GRCm39)	C135S	probably benign	Het
Dnpep	G	A	1: 75,293,890 (GRCm39)		probably benign	Het
Drc1	C	T	5: 30,507,856 (GRCm39)	Q293*	probably null	Het
Glmp	A	G	3: 88,233,077 (GRCm39)	S72G	probably benign	Het
Gm5431	A	T	11: 48,779,285 (GRCm39)	S546T	probably benign	Het
Gnptab	T	A	10: 88,247,782 (GRCm39)	C70S	probably benign	Het
Gpr83	G	A	9: 14,778,170 (GRCm39)	R180Q	probably damaging	Het
Gucy1a1	A	T	3: 82,016,112 (GRCm39)	L292Q	possibly damaging	Het
Gzmd	T	C	14: 56,368,720 (GRCm39)	D58G	probably damaging	Het
Hoxa10	A	G	6: 52,211,245 (GRCm39)	S224P	possibly damaging	Het
Hoxa13	G	A	6: 52,237,247 (GRCm39)		probably benign	Het
Igsf6	A	G	7: 120,667,548 (GRCm39)	V156A	probably benign	Het
Il6st	A	T	13: 112,639,338 (GRCm39)	I649F	probably damaging	Het
Kcnh3	G	A	15: 99,131,147 (GRCm39)	V507M	probably damaging	Het
Lgr5	A	G	10: 115,307,899 (GRCm39)	I253T	probably damaging	Het
Met	T	A	6: 17,491,406 (GRCm39)	V56D	possibly damaging	Het
Mettl22	A	T	16: 8,303,764 (GRCm39)	I277F	possibly damaging	Het
Nadsyn1	G	A	7: 143,359,740 (GRCm39)	R411W	probably damaging	Het
Nrros	T	G	16: 31,962,346 (GRCm39)	E557A	probably benign	Het
Or10ak14	A	T	4: 118,611,254 (GRCm39)	H162Q	probably benign	Het
Or5w1	T	C	2: 87,486,813 (GRCm39)	I151V	not run	Het
Or8j3b	C	T	2: 86,205,604 (GRCm39)	V51M	possibly damaging	Het
Pih1d2	G	A	9: 50,533,101 (GRCm39)	R243Q	not run	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,977 (GRCm39)	V90A	probably benign	Het
Prmt9	T	A	8: 78,285,814 (GRCm39)		probably null	Het
Rapgef4	T	A	2: 72,028,739 (GRCm39)	N385K	possibly damaging	Het
Rbm28	G	A	6: 29,164,627 (GRCm39)		probably benign	Het
Rhobtb3	A	T	13: 76,065,934 (GRCm39)	S150T	probably damaging	Het
Serpinb6b	T	C	13: 33,161,512 (GRCm39)	V195A	probably benign	Het
Sesn1	T	A	10: 41,770,054 (GRCm39)	I99N	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Slc22a19	T	A	19: 7,681,360 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,640,123 (GRCm39)	I305T	probably damaging	Het
Smg6	T	A	11: 74,884,687 (GRCm39)	N3K	unknown	Het
Spta1	C	A	1: 174,023,547 (GRCm39)	Y651*	probably null	Het
Tatdn3	G	A	1: 190,791,053 (GRCm39)	P74S	probably benign	Het
Tet2	C	T	3: 133,186,056 (GRCm39)	R1127Q	possibly damaging	Het
Tgfbi	T	A	13: 56,780,657 (GRCm39)		probably null	Het
Tmprss9	A	G	10: 80,733,903 (GRCm39)		probably null	Het
Tox4	T	C	14: 52,517,299 (GRCm39)	Y10H	probably damaging	Het
Trappc10	A	T	10: 78,046,679 (GRCm39)	S407T	probably damaging	Het
Vmn2r59	A	G	7: 41,708,336 (GRCm39)	C24R	probably damaging	Het
Wdr24	C	A	17: 26,046,070 (GRCm39)	A465D	probably benign	Het
Wfdc8	A	G	2: 164,439,594 (GRCm39)	S263P	unknown	Het
Zc3h15	T	A	2: 83,488,476 (GRCm39)	I138N	possibly damaging	Het

Other mutations in 1700017B05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:1700017B05Rik	APN	9	57,165,529 (GRCm39)	missense	probably damaging	1.00
IGL01287:1700017B05Rik	APN	9	57,165,040 (GRCm39)	missense	probably damaging	1.00
IGL01798:1700017B05Rik	APN	9	57,163,921 (GRCm39)	missense	probably benign	0.10
IGL01933:1700017B05Rik	APN	9	57,164,650 (GRCm39)	missense	possibly damaging	0.95
IGL02146:1700017B05Rik	APN	9	57,164,023 (GRCm39)	missense	possibly damaging	0.82
IGL02158:1700017B05Rik	APN	9	57,163,902 (GRCm39)	splice site	probably null
IGL02277:1700017B05Rik	APN	9	57,165,708 (GRCm39)	missense	probably benign	0.05
IGL02707:1700017B05Rik	APN	9	57,165,928 (GRCm39)	missense	probably benign
IGL02887:1700017B05Rik	APN	9	57,166,168 (GRCm39)	missense	probably damaging	1.00
IGL02936:1700017B05Rik	APN	9	57,165,687 (GRCm39)	missense	possibly damaging	0.69
R0583:1700017B05Rik	UTSW	9	57,164,926 (GRCm39)	missense	probably benign	0.04
R0926:1700017B05Rik	UTSW	9	57,164,832 (GRCm39)	missense	probably damaging	0.99
R1812:1700017B05Rik	UTSW	9	57,164,740 (GRCm39)	nonsense	probably null
R1903:1700017B05Rik	UTSW	9	57,165,635 (GRCm39)	missense	possibly damaging	0.69
R4542:1700017B05Rik	UTSW	9	57,163,875 (GRCm39)	missense	probably damaging	1.00
R4596:1700017B05Rik	UTSW	9	57,165,088 (GRCm39)	missense	probably benign	0.03
R4631:1700017B05Rik	UTSW	9	57,165,270 (GRCm39)	missense	probably damaging	1.00
R4869:1700017B05Rik	UTSW	9	57,161,488 (GRCm39)	missense	probably damaging	1.00
R5265:1700017B05Rik	UTSW	9	57,166,177 (GRCm39)	missense	probably damaging	1.00
R5361:1700017B05Rik	UTSW	9	57,164,468 (GRCm39)	missense	probably damaging	1.00
R6216:1700017B05Rik	UTSW	9	57,164,910 (GRCm39)	missense	probably benign	0.33
R6356:1700017B05Rik	UTSW	9	57,161,292 (GRCm39)	missense	probably benign	0.11
R6579:1700017B05Rik	UTSW	9	57,161,507 (GRCm39)	missense	possibly damaging	0.89
R6774:1700017B05Rik	UTSW	9	57,163,908 (GRCm39)	missense	probably damaging	1.00
R6921:1700017B05Rik	UTSW	9	57,166,019 (GRCm39)	missense	probably damaging	1.00
R7089:1700017B05Rik	UTSW	9	57,166,041 (GRCm39)	missense	probably damaging	1.00
R7196:1700017B05Rik	UTSW	9	57,165,505 (GRCm39)	frame shift	probably null
R7197:1700017B05Rik	UTSW	9	57,165,505 (GRCm39)	frame shift	probably null
R7728:1700017B05Rik	UTSW	9	57,163,822 (GRCm39)	missense	probably damaging	1.00
R7812:1700017B05Rik	UTSW	9	57,165,141 (GRCm39)	missense	probably damaging	0.99
R8141:1700017B05Rik	UTSW	9	57,165,688 (GRCm39)	missense	probably benign
R8144:1700017B05Rik	UTSW	9	57,166,388 (GRCm39)	start gained	probably benign
R8925:1700017B05Rik	UTSW	9	57,165,805 (GRCm39)	nonsense	probably null
R8927:1700017B05Rik	UTSW	9	57,165,805 (GRCm39)	nonsense	probably null
R9186:1700017B05Rik	UTSW	9	57,164,472 (GRCm39)	missense	probably damaging	0.99
R9194:1700017B05Rik	UTSW	9	57,166,371 (GRCm39)	start codon destroyed	probably null	1.00
R9299:1700017B05Rik	UTSW	9	57,163,792 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACCTGTGCTTTGGATAGTTCGATAC -3'
(R):5'- AAACTGCCTGCTCTACCGTC -3'

Sequencing Primer
(F):5'- GATACTTCTCCAAGAATGCCTGG -3'
(R):5'- AGGCTCTGAAAAGATACAAGACTC -3'

Posted On

2019-11-26