Mutagenetix > Incidental Mutation

Incidental Mutation 'R6774:1700017B05Rik'

532293

Institutional Source

Beutler Lab

Gene Symbol

1700017B05Rik

Ensembl Gene

ENSMUSG00000032300

Gene Name

RIKEN cDNA 1700017B05 gene

Synonyms

D9Ertd278e

MMRRC Submission

044890-MU

Accession Numbers

Essential gene?

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

Stock #

R6774 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

57160400-57169895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57163908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 822 (I822N)

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: I822N

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

SMART Domains

Protein: ENSMUSP00000034846
Gene: ENSMUSG00000032300
AA Change: I822N

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: I822N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215298

Predicted Effect

probably benign
Transcript: ENSMUST00000217657

Meta Mutation Damage Score

0.3631

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,143 (GRCm39)	S815P	possibly damaging	Het
A430033K04Rik	A	G	5: 138,644,712 (GRCm39)	Y199C	probably benign	Het
Adam34l	T	A	8: 44,078,220 (GRCm39)	H668L	probably benign	Het
Afap1l1	A	T	18: 61,888,732 (GRCm39)	V113E	probably benign	Het
Ahnak2	C	T	12: 112,740,172 (GRCm39)	C494Y	possibly damaging	Het
Atr	A	T	9: 95,809,266 (GRCm39)	E1981D	probably benign	Het
Bmp7	A	G	2: 172,714,751 (GRCm39)	Y353H	probably damaging	Het
Capn11	C	T	17: 45,968,256 (GRCm39)		probably benign	Het
Ccdc103	T	C	11: 102,773,519 (GRCm39)	F47S	probably damaging	Het
Cmas	A	G	6: 142,710,147 (GRCm39)	Y130C	possibly damaging	Het
Cntn5	T	C	9: 10,144,222 (GRCm39)	Y149C	probably damaging	Het
Col12a1	A	C	9: 79,613,619 (GRCm39)	S75R	possibly damaging	Het
Crat	G	A	2: 30,303,195 (GRCm39)	H31Y	probably damaging	Het
Dnah7a	A	G	1: 53,737,810 (GRCm39)	V41A	probably benign	Het
F5	C	T	1: 164,014,447 (GRCm39)	R573C	probably damaging	Het
Gcc2	A	G	10: 58,117,261 (GRCm39)	N1170S	possibly damaging	Het
Gm29666	A	T	15: 84,798,260 (GRCm39)	C100*	probably null	Het
Gm3573	A	T	14: 42,009,472 (GRCm39)	Y158N	possibly damaging	Het
Gtf3c1	G	T	7: 125,240,793 (GRCm39)	A1968E	possibly damaging	Het
Heg1	C	A	16: 33,558,638 (GRCm39)	T815K	probably damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Kif17	A	G	4: 138,002,306 (GRCm39)	Y170C	probably damaging	Het
Kti12	G	A	4: 108,705,652 (GRCm39)	G189R	probably benign	Het
Lrp4	G	A	2: 91,341,849 (GRCm39)	A1821T	probably benign	Het
Mamdc4	T	C	2: 25,456,948 (GRCm39)	I610V	probably benign	Het
Mmp1b	T	C	9: 7,387,914 (GRCm39)	K27E	probably benign	Het
Mob4	A	G	1: 55,187,588 (GRCm39)		probably null	Het
Myc	G	A	15: 61,860,128 (GRCm39)		probably null	Het
Myo5c	A	T	9: 75,196,468 (GRCm39)	I1305F	probably benign	Het
Nprl3	A	G	11: 32,187,381 (GRCm39)	V292A	probably damaging	Het
Ntng2	T	C	2: 29,087,102 (GRCm39)	T373A	probably damaging	Het
Or1f19	T	A	16: 3,410,380 (GRCm39)	V40D	probably damaging	Het
Or4a67	C	T	2: 88,598,228 (GRCm39)	V144I	probably benign	Het
Or5p50	T	A	7: 107,422,395 (GRCm39)	T94S	probably benign	Het
Or7e171-ps1	A	T	9: 19,853,070 (GRCm39)	L222H	unknown	Het
Pard3	T	C	8: 128,137,228 (GRCm39)	L859P	probably damaging	Het
Ppcs	T	C	4: 119,276,285 (GRCm39)	D100G	probably damaging	Het
Prkdc	G	T	16: 15,543,325 (GRCm39)		probably null	Het
Pwwp2b	T	C	7: 138,835,903 (GRCm39)	V448A	probably benign	Het
Rapgef4	A	G	2: 72,056,119 (GRCm39)	K624R	probably benign	Het
Spata31e5	A	T	1: 28,815,974 (GRCm39)	I686N	probably benign	Het
Synj2	C	T	17: 6,088,290 (GRCm39)	S1447L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tnxb	C	A	17: 34,928,606 (GRCm39)	Y2673*	probably null	Het
Trim27	T	A	13: 21,376,624 (GRCm39)	H457Q	probably damaging	Het
Trim72	T	G	7: 127,609,558 (GRCm39)	F453L	probably damaging	Het
Ubr5	A	T	15: 38,015,379 (GRCm39)	M877K	probably damaging	Het
Usp10	T	C	8: 120,678,711 (GRCm39)	L564P	probably benign	Het
Usp54	A	G	14: 20,627,296 (GRCm39)	V454A	probably damaging	Het
Uspl1	T	A	5: 149,150,904 (GRCm39)	D701E	probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Zfp35	G	A	18: 24,136,015 (GRCm39)	V120I	possibly damaging	Het
Zfp712	T	C	13: 67,189,568 (GRCm39)	T320A	probably benign	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
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
R7770:1700017B05Rik	UTSW	9	57,165,894 (GRCm39)	missense	probably damaging	0.99
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'- TCAGGATAGATGTCAGGCAGCTG -3'
(R):5'- CTCTGTGATGCCATCTCAGG -3'

Sequencing Primer
(F):5'- TCAGGCAGCTGACGCAG -3'
(R):5'- TCCACCAGAGAAACTGCGGG -3'

Posted On

2018-08-29