Mutagenetix > Incidental Mutation

Incidental Mutation 'R5548:C77080'

434977

Institutional Source

Beutler Lab

Gene Symbol

C77080

Ensembl Gene

ENSMUSG00000050390

Gene Name

expressed sequence C77080

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R5548 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

129219578-129261404 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGTG to GGTGTG at 129223980 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052602] [ENSMUST00000097873] [ENSMUST00000106051] [ENSMUST00000106054] [ENSMUST00000145261] [ENSMUST00000146376]

AlphaFold

A2A7S8

Predicted Effect

probably null
Transcript: ENSMUST00000052602

SMART Domains

Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
low complexity region	39	80	N/A	INTRINSIC
low complexity region	209	215	N/A	INTRINSIC
low complexity region	273	286	N/A	INTRINSIC
low complexity region	365	382	N/A	INTRINSIC
low complexity region	393	418	N/A	INTRINSIC
low complexity region	449	464	N/A	INTRINSIC
low complexity region	492	499	N/A	INTRINSIC
low complexity region	532	550	N/A	INTRINSIC
low complexity region	555	588	N/A	INTRINSIC
low complexity region	621	634	N/A	INTRINSIC
low complexity region	657	690	N/A	INTRINSIC
low complexity region	724	739	N/A	INTRINSIC
low complexity region	743	773	N/A	INTRINSIC
low complexity region	810	833	N/A	INTRINSIC
low complexity region	916	930	N/A	INTRINSIC
low complexity region	988	1020	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000097873

SMART Domains

Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390

Domain	Start	End	E-Value	Type
low complexity region	164	170	N/A	INTRINSIC
low complexity region	228	241	N/A	INTRINSIC
low complexity region	320	337	N/A	INTRINSIC
low complexity region	348	373	N/A	INTRINSIC
low complexity region	404	419	N/A	INTRINSIC
low complexity region	447	454	N/A	INTRINSIC
low complexity region	487	505	N/A	INTRINSIC
low complexity region	510	543	N/A	INTRINSIC
low complexity region	576	589	N/A	INTRINSIC
low complexity region	612	645	N/A	INTRINSIC
low complexity region	679	694	N/A	INTRINSIC
low complexity region	698	728	N/A	INTRINSIC
low complexity region	765	788	N/A	INTRINSIC
low complexity region	871	885	N/A	INTRINSIC
low complexity region	943	975	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106051

SMART Domains

Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390

Domain	Start	End	E-Value	Type
low complexity region	152	158	N/A	INTRINSIC
low complexity region	216	229	N/A	INTRINSIC
low complexity region	308	325	N/A	INTRINSIC
low complexity region	336	361	N/A	INTRINSIC
low complexity region	392	407	N/A	INTRINSIC
low complexity region	435	442	N/A	INTRINSIC
low complexity region	475	493	N/A	INTRINSIC
low complexity region	498	531	N/A	INTRINSIC
low complexity region	564	577	N/A	INTRINSIC
low complexity region	600	633	N/A	INTRINSIC
low complexity region	667	682	N/A	INTRINSIC
low complexity region	686	716	N/A	INTRINSIC
low complexity region	753	776	N/A	INTRINSIC
low complexity region	859	873	N/A	INTRINSIC
low complexity region	931	963	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106054

SMART Domains

Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:tRNA-synt_1b	67	358	1e-78	PFAM
Pfam:tRNA_bind	406	502	7.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145261

Predicted Effect

probably benign
Transcript: ENSMUST00000146376

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,973,867	D191G	probably benign	Het
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Cdh12	C	T	15: 21,492,654	T253I	probably damaging	Het
Cox4i2	C	T	2: 152,757,091	T56I	possibly damaging	Het
Cpsf1	A	C	15: 76,597,327	D1141E	possibly damaging	Het
D3Ertd254e	C	G	3: 36,165,491	H554Q	possibly damaging	Het
Dennd5b	T	C	6: 149,019,349		probably null	Het
Dnah6	A	T	6: 73,151,689	D1194E	probably damaging	Het
Dst	C	A	1: 34,189,328	H1676N	probably benign	Het
Fitm1	A	G	14: 55,575,697	T6A	probably benign	Het
Galnt5	T	A	2: 58,014,910	V495E	probably damaging	Het
Gm8994	T	C	6: 136,329,570	V343A	probably damaging	Het
Gtf2h2	C	A	13: 100,481,036	R206L	possibly damaging	Het
Heatr5a	A	T	12: 51,958,951	Y80*	probably null	Het
Il17ra	A	G	6: 120,478,473	R348G	probably benign	Het
Mmp28	A	T	11: 83,443,907	Y340*	probably null	Het
Mrgprb8	A	T	7: 48,389,030	T150S	probably benign	Het
Ms4a10	A	T	19: 10,968,120		probably null	Het
Muc5b	A	T	7: 141,863,942	I3542F	probably benign	Het
Mybbp1a	T	C	11: 72,446,172	L578P	probably damaging	Het
N4bp2l1	G	A	5: 150,572,955	R65*	probably null	Het
Nup188	T	A	2: 30,326,493	Y770N	probably damaging	Het
Olfr284	T	A	15: 98,340,372	T206S	probably benign	Het
Olfr918	T	C	9: 38,673,304	I60V	probably benign	Het
Pbrm1	T	A	14: 31,105,424	C1257S	probably damaging	Het
Pcdh8	T	C	14: 79,767,502	T1028A	probably damaging	Het
Pramef25	C	T	4: 143,949,980	E185K	probably benign	Het
Qars	C	T	9: 108,512,918	P348S	possibly damaging	Het
Qrfpr	T	A	3: 36,221,926	Q105L	possibly damaging	Het
Slc10a5	A	T	3: 10,334,317	Y428N	probably benign	Het
Slc16a5	A	T	11: 115,469,804	Y271F	probably benign	Het
Slc1a4	T	A	11: 20,304,429	Q479L	possibly damaging	Het
Slc38a1	C	T	15: 96,590,474	G143S	probably damaging	Het
Susd1	G	A	4: 59,369,577	T364M	probably benign	Het
Tmem132c	T	A	5: 127,551,523	Y496*	probably null	Het
Tmem63b	A	G	17: 45,664,958	I523T	probably damaging	Het
Tnrc6c	T	C	11: 117,760,843	S1731P	possibly damaging	Het
Ttll3	T	A	6: 113,393,117	W139R	probably damaging	Het
Ubr4	C	T	4: 139,460,090	T3823M	probably damaging	Het
Vangl1	T	A	3: 102,184,446	D108V	possibly damaging	Het
Vmn1r120	T	C	7: 21,053,557	I76M	probably benign	Het
Wdr17	A	G	8: 54,703,851	Y17H	probably damaging	Het
Xkr4	C	T	1: 3,216,930	A346T	probably damaging	Het
Zfp600	T	A	4: 146,196,449	S562R	possibly damaging	Het

Other mutations in C77080

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:C77080	APN	4	129222796	splice site	probably null
IGL02654:C77080	APN	4	129222319	missense	probably damaging	1.00
IGL02797:C77080	APN	4	129223311	missense	probably damaging	0.99
IGL03231:C77080	APN	4	129223681	missense	possibly damaging	0.73
IGL03134:C77080	UTSW	4	129222487	missense	possibly damaging	0.53
R0078:C77080	UTSW	4	129227723	splice site	probably null
R0418:C77080	UTSW	4	129223684	missense	probably damaging	1.00
R1374:C77080	UTSW	4	129222289	missense	possibly damaging	0.83
R1632:C77080	UTSW	4	129222666	missense	possibly damaging	0.94
R1735:C77080	UTSW	4	129223577	missense	probably damaging	1.00
R1970:C77080	UTSW	4	129226017	splice site	probably benign
R2018:C77080	UTSW	4	129222355	missense	probably damaging	0.96
R2157:C77080	UTSW	4	129224124	missense	possibly damaging	0.76
R2201:C77080	UTSW	4	129222639	missense	probably benign
R2316:C77080	UTSW	4	129223747	missense	probably damaging	1.00
R3751:C77080	UTSW	4	129224322	unclassified	probably benign
R4648:C77080	UTSW	4	129221940	missense	probably benign	0.00
R4790:C77080	UTSW	4	129223302	missense	probably damaging	1.00
R4885:C77080	UTSW	4	129224445	missense	probably damaging	1.00
R5217:C77080	UTSW	4	129222685	missense	probably damaging	0.99
R5270:C77080	UTSW	4	129224212	missense	possibly damaging	0.48
R5272:C77080	UTSW	4	129224212	missense	possibly damaging	0.48
R5273:C77080	UTSW	4	129224212	missense	possibly damaging	0.48
R5314:C77080	UTSW	4	129224212	missense	possibly damaging	0.48
R5752:C77080	UTSW	4	129223980	frame shift	probably null
R5908:C77080	UTSW	4	129222148	missense	probably damaging	0.98
R5960:C77080	UTSW	4	129222072	missense	probably damaging	0.99
R7024:C77080	UTSW	4	129225408	missense	probably null	0.73
R7296:C77080	UTSW	4	129225418	missense	probably damaging	1.00
R7447:C77080	UTSW	4	129222042	missense	possibly damaging	0.63
R7638:C77080	UTSW	4	129221941	missense	probably benign
R7689:C77080	UTSW	4	129223773	missense	probably benign	0.25
R7819:C77080	UTSW	4	129222483	missense	probably benign	0.31
R8213:C77080	UTSW	4	129221459	missense	possibly damaging	0.64
R8219:C77080	UTSW	4	129248153	missense	possibly damaging	0.55
R8348:C77080	UTSW	4	129223906	missense	probably damaging	1.00
R8360:C77080	UTSW	4	129224202	missense	possibly damaging	0.89
R8788:C77080	UTSW	4	129225950	missense	probably benign
R9252:C77080	UTSW	4	129223476	missense	probably benign	0.01
R9652:C77080	UTSW	4	129224169	missense	possibly damaging	0.90
Z1088:C77080	UTSW	4	129222298	missense	probably damaging	1.00
Z1176:C77080	UTSW	4	129223704	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAATGGTCTCGGAGGACTG -3'
(R):5'- CAGATGCAGAGGCTGTCATC -3'

Sequencing Primer
(F):5'- AGAGTGGCTCCAGTTGTCAC -3'
(R):5'- TGTCATCCAGCGCCACATC -3'

Posted On

2016-10-24