Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02797:C77080'

360009

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C77080

Ensembl Gene

ENSMUSG00000050390

Gene Name

expressed sequence C77080

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

IGL02797

Quality Score

Status

Chromosome

Chromosomal Location

129219578-129261404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129223311 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 565 (R565H)

Ref Sequence

ENSEMBL: ENSMUSP00000062395 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000052602
AA Change: R565H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: R565H

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 benign
Transcript: ENSMUST00000097873
AA Change: R520H

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: R520H

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 damaging
Transcript: ENSMUST00000106051
AA Change: R508H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: R508H

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

noncoding transcript
Transcript: ENSMUST00000137591

Predicted Effect

probably benign
Transcript: ENSMUST00000145261

Predicted Effect

probably benign
Transcript: ENSMUST00000146376

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,368,464	M924T	probably benign	Het
B3gat2	A	G	1: 23,815,279	Y218C	probably damaging	Het
Bcs1l	T	C	1: 74,590,461		probably null	Het
Cd109	T	A	9: 78,661,713	I358N	probably damaging	Het
Cd276	T	C	9: 58,537,436	D84G	possibly damaging	Het
Chsy1	T	C	7: 66,171,664	F549S	probably damaging	Het
Clca2	T	C	3: 145,081,263	N549S	probably benign	Het
Cma1	A	G	14: 55,943,814	S32P	possibly damaging	Het
Col23a1	G	A	11: 51,561,916		probably null	Het
Ctps	A	T	4: 120,562,824	I131K	probably benign	Het
Cyp2w1	T	C	5: 139,356,873	L441P	probably damaging	Het
Dnajc21	A	G	15: 10,461,355	Y170H	probably damaging	Het
Eif3a	A	T	19: 60,772,726	L648Q	probably damaging	Het
Eif3l	T	A	15: 79,075,277	D6E	probably benign	Het
Fam228a	A	T	12: 4,731,484	L125Q	probably damaging	Het
Foxa2	A	G	2: 148,044,125	C263R	possibly damaging	Het
Gm17455	A	G	10: 60,403,328	E124G	possibly damaging	Het
Gm8882	T	A	6: 132,363,045		probably null	Het
Gpc6	T	G	14: 116,925,982	L16R	probably damaging	Het
Hdac9	A	G	12: 34,393,274		probably benign	Het
Herc3	A	G	6: 58,868,694	N400S	probably benign	Het
Herc4	G	A	10: 63,316,807		probably null	Het
Il12b	A	G	11: 44,410,353		probably null	Het
Lama4	A	G	10: 39,056,924	R599G	probably null	Het
Lrp1b	T	A	2: 41,671,057	E286V	probably benign	Het
Mink1	C	T	11: 70,610,350	P784S	probably damaging	Het
Musk	T	C	4: 58,366,921	F513S	probably benign	Het
Nfasc	T	A	1: 132,610,448	D474V	probably damaging	Het
Nos2	T	G	11: 78,940,344	F420V	probably damaging	Het
Olfr597	A	T	7: 103,320,851	I147L	probably benign	Het
Pcdhb14	A	G	18: 37,449,851	Y670C	probably damaging	Het
Polr1b	A	G	2: 129,102,979	E65G	probably damaging	Het
Ppp1r10	T	G	17: 35,928,012		probably null	Het
Prag1	C	T	8: 36,139,501	R799C	probably damaging	Het
Ptch1	T	C	13: 63,533,607	N485S	probably benign	Het
Rgsl1	T	C	1: 153,807,708	T19A	probably damaging	Het
Sgpl1	A	C	10: 61,101,728	S507A	probably benign	Het
Sgpp2	A	G	1: 78,417,182	D274G	probably benign	Het
Skap1	A	G	11: 96,713,017	D211G	possibly damaging	Het
Smc3	A	G	19: 53,638,758	T830A	probably benign	Het
Smpd2	G	A	10: 41,488,078	T215I	possibly damaging	Het
Sntg2	T	G	12: 30,226,892	Y387S	possibly damaging	Het
Sorl1	T	G	9: 42,037,059	D810A	probably damaging	Het
Spata5	A	G	3: 37,458,316		probably benign	Het
Spop	T	A	11: 95,482,083	I217N	probably damaging	Het
Stac2	T	C	11: 98,043,519	R120G	possibly damaging	Het
Stau1	A	T	2: 166,949,346	*496R	probably null	Het
Tmeff2	C	T	1: 50,928,047	R34C	probably damaging	Het
Treml2	C	T	17: 48,302,711	A57V	possibly damaging	Het
Vmn2r15	T	C	5: 109,297,384	D58G	probably benign	Het
Vmn2r7	T	C	3: 64,691,245	I721M	possibly damaging	Het
Vmn2r70	C	A	7: 85,559,087	M727I	probably benign	Het
Vwa8	T	A	14: 78,925,262	C161S	probably benign	Het

Other mutations in C77080

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:C77080	APN	4	129222796	unclassified	probably null
IGL02654:C77080	APN	4	129222319	missense	probably damaging	1.00
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
R5548:C77080	UTSW	4	129223980	frame shift	probably null
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
Z1088:C77080	UTSW	4	129222298	missense	probably damaging	1.00

Posted On

2015-12-18