Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:5730559C18Rik'

59681

Institutional Source

Beutler Lab

Gene Symbol

5730559C18Rik

Ensembl Gene

ENSMUSG00000041605

Gene Name

RIKEN cDNA 5730559C18 gene

Synonyms

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0632 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

136213531-136234264 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136227618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 83 (D83G)

Ref Sequence

ENSEMBL: ENSMUSP00000113785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120339] [ENSMUST00000144464] [ENSMUST00000150163] [ENSMUST00000153910] [ENSMUST00000195177]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000120339
AA Change: D83G

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113785
Gene: ENSMUSG00000041605
AA Change: D83G

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: ENSMUST00000144464

SMART Domains

Protein: ENSMUSP00000115554
Gene: ENSMUSG00000041605

Domain	Start	End	E-Value	Type
Pfam:DUF3338	1	132	5.7e-58	PFAM
low complexity region	174	194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150163

SMART Domains

Protein: ENSMUSP00000118074
Gene: ENSMUSG00000041605

Domain	Start	End	E-Value	Type
Pfam:DUF3338	1	132	6.8e-58	PFAM
low complexity region	174	194	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153910

SMART Domains

Protein: ENSMUSP00000120263
Gene: ENSMUSG00000041605

Domain	Start	End	E-Value	Type
low complexity region	25	65	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194374

Predicted Effect

probably benign
Transcript: ENSMUST00000195177

SMART Domains

Protein: ENSMUSP00000141506
Gene: ENSMUSG00000041605

Domain	Start	End	E-Value	Type
Pfam:DUF3338	1	78	5.2e-31	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably 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
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
R4256:5730559C18Rik	UTSW	1	136214350	missense	probably benign	0.00
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'- TCTGCTCCAGATAGGACAGGAACTC -3'
(R):5'- TAGGCTGAACCCTCCCTTGGAATG -3'

Sequencing Primer
(F):5'- CTTGAGGTGCCAGATCTTCCAG -3'
(R):5'- GGAATGCCTTCCCACCC -3'

Posted On

2013-07-11