Mutagenetix > Incidental Mutations

Incidental Mutation 'R4256:5730559C18Rik'

321807

Institutional Source

Beutler Lab

Gene Symbol

5730559C18Rik

Ensembl Gene

ENSMUSG00000041605

Gene Name

RIKEN cDNA 5730559C18 gene

Synonyms

MMRRC Submission

041069-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136213531-136234264 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 136214350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 670 (N670K)

Ref Sequence

ENSEMBL: ENSMUSP00000113785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120339] [ENSMUST00000168561] [ENSMUST00000212798]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000120339
AA Change: N670K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113785
Gene: ENSMUSG00000041605
AA Change: N670K

Domain	Start	End	E-Value	Type
low complexity region	25	65	N/A	INTRINSIC
Pfam:DUF3338	101	230	6.2e-57	PFAM
low complexity region	273	316	N/A	INTRINSIC
low complexity region	353	362	N/A	INTRINSIC
low complexity region	466	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168561

SMART Domains

Protein: ENSMUSP00000130772
Gene: ENSMUSG00000087230

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	126	669	2e-7	SMART
low complexity region	677	684	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180496

Predicted Effect

probably benign
Transcript: ENSMUST00000212798

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (41/44)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
Arsi	T	C	18: 60,917,316	W424R	probably damaging	Het
Atad2	A	G	15: 58,116,856	S411P	probably damaging	Het
Cdhr2	G	A	13: 54,714,005	V72I	probably damaging	Het
Celf4	T	C	18: 25,491,201	I414V	probably damaging	Het
Cfap43	G	A	19: 47,782,405	T689I	probably benign	Het
Cpne9	C	T	6: 113,283,023		probably benign	Het
Cyp3a11	A	T	5: 145,869,195	S121T	probably benign	Het
Dip2c	C	A	13: 9,609,056	Q864K	probably damaging	Het
Fbxo3	A	G	2: 104,051,165	T281A	probably damaging	Het
Gm5148	T	A	3: 37,714,609	H154L	unknown	Het
Gm906	A	C	13: 50,250,105	S54A	probably benign	Het
Gsdma2	T	A	11: 98,651,932		probably null	Het
Hfm1	T	C	5: 106,904,797	I273M	possibly damaging	Het
Hspa4l	A	G	3: 40,746,003	E14G	probably benign	Het
Lgals12	T	G	19: 7,606,716	E5D	possibly damaging	Het
Lsg1	T	G	16: 30,573,243	I237L	probably benign	Het
Mettl14	T	C	3: 123,383,605	E49G	probably damaging	Het
Nbeal1	A	G	1: 60,330,948	I2675V	probably benign	Het
Olfr1272	A	T	2: 90,282,062	V171E	probably damaging	Het
Olfr1391	A	T	11: 49,327,477	Q22L	probably benign	Het
Olfr178	T	G	16: 58,889,780	S147R	probably benign	Het
Padi1	A	T	4: 140,814,778	L611Q	probably damaging	Het
Pcdhac2	A	G	18: 37,144,711	D248G	probably damaging	Het
Plekhm1	C	A	11: 103,370,934	R940L	probably damaging	Het
Rasa3	A	G	8: 13,614,532		probably null	Het
Rspo2	C	A	15: 43,075,911	R161L	probably benign	Het
Sacs	A	G	14: 61,206,337	Y1944C	probably damaging	Het
Slc7a10	G	T	7: 35,198,715	M297I	probably damaging	Het
Ssh2	A	G	11: 77,408,183	T112A	possibly damaging	Het
Ttc7	A	T	17: 87,321,401		probably null	Het
Vmn1r64	T	A	7: 5,883,896	H216L	probably benign	Het
Vmn2r112	A	G	17: 22,618,412	K618R	probably damaging	Het
Vmp1	T	A	11: 86,661,188	I117L	probably benign	Het
Vsnl1	A	T	12: 11,332,055	Y108*	probably null	Het
Wdr31	A	G	4: 62,457,438		probably null	Het
Zfp329	A	G	7: 12,807,913	V284A	probably benign	Het
Zfp551	G	A	7: 12,416,391	H364Y	possibly damaging	Het

Other mutations in 5730559C18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:5730559C18Rik	APN	1	136219775	missense	probably damaging	1.00
IGL02466:5730559C18Rik	APN	1	136216435	splice site	probably null
IGL03408:5730559C18Rik	APN	1	136214405	missense	probably benign
R0053:5730559C18Rik	UTSW	1	136227550	missense	probably benign	0.01
R0053:5730559C18Rik	UTSW	1	136227550	missense	probably benign	0.01
R0632:5730559C18Rik	UTSW	1	136227618	missense	probably benign	0.06
R1218:5730559C18Rik	UTSW	1	136214402	missense	probably damaging	1.00
R1611:5730559C18Rik	UTSW	1	136216117	missense	probably damaging	1.00
R3618:5730559C18Rik	UTSW	1	136214372	missense	probably benign	0.11
R4348:5730559C18Rik	UTSW	1	136226208	missense	probably damaging	1.00
R4350:5730559C18Rik	UTSW	1	136226208	missense	probably damaging	1.00
R4353:5730559C18Rik	UTSW	1	136226208	missense	probably damaging	1.00
R5343:5730559C18Rik	UTSW	1	136225442	missense	probably benign	0.01
R6296:5730559C18Rik	UTSW	1	136221071	critical splice donor site	probably null
R6597:5730559C18Rik	UTSW	1	136226189	missense	probably damaging	1.00
R6983:5730559C18Rik	UTSW	1	136220156	missense	possibly damaging	0.59
R7060:5730559C18Rik	UTSW	1	136220197	missense	possibly damaging	0.75
R7503:5730559C18Rik	UTSW	1	136215937	missense	possibly damaging	0.76
R7527:5730559C18Rik	UTSW	1	136214384	missense	possibly damaging	0.67
R7602:5730559C18Rik	UTSW	1	136225397	nonsense	probably null
R7675:5730559C18Rik	UTSW	1	136216003	missense	probably benign	0.04
R7756:5730559C18Rik	UTSW	1	136216433	missense	probably benign	0.01
R7912:5730559C18Rik	UTSW	1	136227541	missense	probably benign	0.03
R8261:5730559C18Rik	UTSW	1	136225477	missense	probably damaging	1.00
R9402:5730559C18Rik	UTSW	1	136227610	missense	probably benign
X0017:5730559C18Rik	UTSW	1	136220182	missense	probably damaging	1.00
Z1176:5730559C18Rik	UTSW	1	136219783	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- AAATCCTCAGGTCAGGACTTCTG -3'
(R):5'- AGCACCAGGGCTTCACTATC -3'

Sequencing Primer
(F):5'- CTCAGGTCAGGACTTCTGGGAAAC -3'
(R):5'- ACCAGGGCTTCACTATCGATGATG -3'

Posted On

2015-06-20