Mutagenetix > Incidental Mutation

Incidental Mutation 'R5817:Rnf169'

449100

Institutional Source

Beutler Lab

Gene Symbol

Rnf169

Ensembl Gene

ENSMUSG00000058761

Gene Name

ring finger protein 169

Synonyms

2900057K09Rik

MMRRC Submission

043397-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R5817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99569461-99629655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99574976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 540 (S540P)

Ref Sequence

ENSEMBL: ENSMUSP00000079631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080817]

AlphaFold

E9Q7F2

Predicted Effect

probably benign
Transcript: ENSMUST00000080817
AA Change: S540P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000079631
Gene: ENSMUSG00000058761
AA Change: S540P

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	32	46	N/A	INTRINSIC
RING	61	96	3.16e-1	SMART
Blast:RING	133	176	7e-8	BLAST
low complexity region	302	314	N/A	INTRINSIC
low complexity region	649	661	N/A	INTRINSIC

Meta Mutation Damage Score

0.0597

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,349,497 (GRCm39)	I251M	probably benign	Het
Abcf3	T	C	16: 20,367,833 (GRCm39)	V63A	possibly damaging	Het
Agpat4	C	T	17: 12,434,097 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,890,720 (GRCm39)	V292M	probably damaging	Het
Ahnak2	A	T	12: 112,740,437 (GRCm39)	F406I	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef5	G	A	6: 43,252,038 (GRCm39)	D930N	probably benign	Het
Cc2d2a	G	A	5: 43,869,760 (GRCm39)	R887Q	probably damaging	Het
Ceacam18	A	G	7: 43,291,265 (GRCm39)	T236A	probably benign	Het
Chst15	A	T	7: 131,870,873 (GRCm39)	Y221N	probably damaging	Het
Chst15	G	A	7: 131,870,876 (GRCm39)	L220F	probably damaging	Het
Cntn2	G	A	1: 132,446,486 (GRCm39)	T784I	probably benign	Het
D630003M21Rik	A	G	2: 158,038,413 (GRCm39)	L1011P	probably damaging	Het
Dync2h1	T	A	9: 6,996,905 (GRCm39)	D3894V	probably damaging	Het
Eif1ad19	G	T	12: 87,740,201 (GRCm39)	D119E	probably benign	Het
Fam13b	T	C	18: 34,590,850 (GRCm39)	M443V	possibly damaging	Het
Fam20a	T	A	11: 109,564,244 (GRCm39)	Q503L	possibly damaging	Het
Ftdc2	T	C	16: 58,457,156 (GRCm39)	I89V	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5454	T	A	13: 103,493,140 (GRCm39)		noncoding transcript	Het
Gm5581	A	G	6: 131,144,132 (GRCm39)		noncoding transcript	Het
Gm6619	A	G	6: 131,463,400 (GRCm39)	I6V	unknown	Het
Gmcl1	A	G	6: 86,691,230 (GRCm39)	M255T	probably damaging	Het
Golm2	T	A	2: 121,736,525 (GRCm39)	S231T	probably benign	Het
Gprc5c	T	A	11: 114,754,450 (GRCm39)	C42*	probably null	Het
Hmcn1	T	A	1: 150,613,275 (GRCm39)	E1384V	possibly damaging	Het
Il6	A	G	5: 30,223,006 (GRCm39)	I91V	probably benign	Het
Kmt2d	A	T	15: 98,760,244 (GRCm39)	S1005T	unknown	Het
Map1a	A	T	2: 121,129,391 (GRCm39)	H143L	possibly damaging	Het
Mical2	A	T	7: 111,922,866 (GRCm39)	T624S	probably benign	Het
Msh3	A	T	13: 92,422,508 (GRCm39)	N549K	possibly damaging	Het
Ncr1	T	A	7: 4,343,894 (GRCm39)	I164N	possibly damaging	Het
Or10ak11	T	G	4: 118,687,296 (GRCm39)	T115P	probably damaging	Het
Or51a5	A	T	7: 102,771,115 (GRCm39)	M292K	possibly damaging	Het
Or52m1	A	G	7: 102,289,585 (GRCm39)	N44S	probably damaging	Het
Or8d2b	A	G	9: 38,788,673 (GRCm39)	D67G	probably damaging	Het
Palmd	T	C	3: 116,712,272 (GRCm39)	I541M	probably benign	Het
Pcsk7	A	T	9: 45,837,331 (GRCm39)	M552L	probably benign	Het
Plekhh2	A	G	17: 84,879,154 (GRCm39)	E626G	possibly damaging	Het
Pole	G	A	5: 110,460,838 (GRCm39)	D1176N	probably damaging	Het
Polr2f	T	C	15: 79,035,869 (GRCm39)	I110T	probably damaging	Het
Pomt1	A	T	2: 32,138,691 (GRCm39)	I436F	probably damaging	Het
Prag1	A	C	8: 36,570,857 (GRCm39)	Q480P	probably damaging	Het
Qars1	C	T	9: 108,387,441 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,175,406 (GRCm39)	S1797L	probably damaging	Het
Rbm26	T	C	14: 105,366,039 (GRCm39)	T832A	probably damaging	Het
Serpini1	T	A	3: 75,520,631 (GRCm39)	M76K	probably benign	Het
Shq1	A	G	6: 100,550,681 (GRCm39)	L419S	probably damaging	Het
Slc25a17	G	A	15: 81,211,261 (GRCm39)	T225M	probably damaging	Het
Slc6a5	C	A	7: 49,606,239 (GRCm39)	L716I	probably benign	Het
Smc1b	A	G	15: 84,951,984 (GRCm39)	V1149A	probably damaging	Het
Trappc1	A	T	11: 69,215,060 (GRCm39)	Q26L	possibly damaging	Het
Trpm2	C	A	10: 77,801,814 (GRCm39)	G84W	probably damaging	Het
Ttn	G	A	2: 76,573,010 (GRCm39)	T24215M	probably damaging	Het
Ubn2	C	A	6: 38,456,088 (GRCm39)	T337K	probably damaging	Het
Ubr4	A	G	4: 139,196,158 (GRCm39)	K1265E	probably damaging	Het
Vmn1r214	T	G	13: 23,219,491 (GRCm39)	I328M	probably damaging	Het
Xcr1	C	T	9: 123,684,922 (GRCm39)	C280Y	possibly damaging	Het
Zc3h13	A	G	14: 75,565,572 (GRCm39)	E895G	probably damaging	Het

Other mutations in Rnf169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Rnf169	APN	7	99,604,691 (GRCm39)	missense	probably damaging	1.00
IGL02344:Rnf169	APN	7	99,575,642 (GRCm39)	missense	probably damaging	1.00
IGL03066:Rnf169	APN	7	99,574,760 (GRCm39)	missense	possibly damaging	0.85
R0201:Rnf169	UTSW	7	99,575,210 (GRCm39)	missense	possibly damaging	0.85
R1087:Rnf169	UTSW	7	99,592,204 (GRCm39)	missense	probably benign	0.01
R1289:Rnf169	UTSW	7	99,574,943 (GRCm39)	missense	probably benign	0.01
R1476:Rnf169	UTSW	7	99,574,535 (GRCm39)	missense	possibly damaging	0.72
R1912:Rnf169	UTSW	7	99,575,461 (GRCm39)	missense	probably damaging	1.00
R1964:Rnf169	UTSW	7	99,574,732 (GRCm39)	missense	probably damaging	1.00
R2057:Rnf169	UTSW	7	99,574,615 (GRCm39)	missense	probably damaging	1.00
R2342:Rnf169	UTSW	7	99,574,652 (GRCm39)	missense	possibly damaging	0.87
R4755:Rnf169	UTSW	7	99,574,930 (GRCm39)	missense	probably benign	0.01
R4801:Rnf169	UTSW	7	99,575,653 (GRCm39)	missense	probably damaging	1.00
R4802:Rnf169	UTSW	7	99,575,653 (GRCm39)	missense	probably damaging	1.00
R5391:Rnf169	UTSW	7	99,584,367 (GRCm39)	critical splice donor site	probably null
R5395:Rnf169	UTSW	7	99,584,367 (GRCm39)	critical splice donor site	probably null
R5643:Rnf169	UTSW	7	99,576,338 (GRCm39)	missense	possibly damaging	0.85
R5952:Rnf169	UTSW	7	99,574,840 (GRCm39)	missense	probably damaging	1.00
R6009:Rnf169	UTSW	7	99,576,330 (GRCm39)	missense	possibly damaging	0.92
R6453:Rnf169	UTSW	7	99,584,434 (GRCm39)	missense	probably benign	0.01
R7238:Rnf169	UTSW	7	99,574,954 (GRCm39)	missense	probably benign	0.10
R7500:Rnf169	UTSW	7	99,629,445 (GRCm39)	missense	probably damaging	0.99
R8194:Rnf169	UTSW	7	99,575,651 (GRCm39)	missense	probably damaging	1.00
R9227:Rnf169	UTSW	7	99,574,699 (GRCm39)	missense	possibly damaging	0.82
R9469:Rnf169	UTSW	7	99,575,567 (GRCm39)	missense	possibly damaging	0.92
R9548:Rnf169	UTSW	7	99,574,690 (GRCm39)	missense	probably damaging	1.00
R9729:Rnf169	UTSW	7	99,575,477 (GRCm39)	missense	probably damaging	1.00
Z1177:Rnf169	UTSW	7	99,575,068 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- CTGTTGACCAGAATGCCATTACC -3'
(R):5'- CGTCTCTGGCCTTTAATACAAGG -3'

Sequencing Primer
(F):5'- GCCATTACCCAGATCAAAATGATTG -3'
(R):5'- CCTTTAATACAAGGCTGTCCAGGG -3'

Posted On

2016-12-20