Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01024:C87977'

53556

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C87977

Ensembl Gene

ENSMUSG00000046262

Gene Name

expressed sequence C87977

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL01024

Quality Score

Status

Chromosome

Chromosomal Location

144206775-144213318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144208475 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 232 (I232K)

Ref Sequence

ENSEMBL: ENSMUSP00000101379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105753
AA Change: I232K

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000105754

Predicted Effect

probably benign
Transcript: ENSMUST00000105755
AA Change: I62K

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: I62K

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	52	250	9e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105757
AA Change: I232K

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: I232K

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	420	1e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132946

Predicted Effect

probably benign
Transcript: ENSMUST00000146836

Predicted Effect

probably benign
Transcript: ENSMUST00000147855

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,717,040	V209A	probably benign	Het
Abca6	T	A	11: 110,197,142	Y1053F	probably benign	Het
Acot12	C	T	13: 91,781,211	Q386*	probably null	Het
Adamts16	A	G	13: 70,795,484	V336A	probably benign	Het
Ankrd49	A	G	9: 14,782,803	F23L	probably damaging	Het
Aspm	A	T	1: 139,478,124	H1583L	possibly damaging	Het
Atp6v0a1	A	G	11: 101,048,439	I677V	probably benign	Het
BC005561	T	G	5: 104,521,746	V1378G	probably benign	Het
Brinp1	A	T	4: 68,762,494	W600R	probably damaging	Het
Ccdc185	T	C	1: 182,747,423	E567G	possibly damaging	Het
Clip2	T	C	5: 134,510,212	D445G	probably damaging	Het
Elp5	T	C	11: 69,968,422		probably benign	Het
Gm9376	A	G	14: 118,267,158	M1V	probably null	Het
Gtf2a1l	A	G	17: 88,671,291	K40R	probably damaging	Het
Hdc	A	G	2: 126,603,846	V246A	probably benign	Het
Hectd2	T	A	19: 36,606,393	F479L	probably damaging	Het
Hipk1	G	T	3: 103,760,636	N538K	probably benign	Het
Kif27	T	A	13: 58,288,201	E1259D	possibly damaging	Het
Klhdc2	T	A	12: 69,305,836	N256K	probably benign	Het
Krt71	C	T	15: 101,736,674	A401T	probably damaging	Het
Mapk3	A	T	7: 126,764,774	K312*	probably null	Het
Med12l	G	T	3: 59,073,341	S365I	probably damaging	Het
Mgam	A	G	6: 40,643,010	K11R	probably benign	Het
Nox3	A	T	17: 3,683,015	I187N	probably damaging	Het
Nudcd1	T	A	15: 44,420,826	M55L	probably benign	Het
Olfr1312	A	T	2: 112,042,371	F220L	probably benign	Het
Olfr43	A	T	11: 74,206,655	L187Q	probably damaging	Het
Olfr983	A	G	9: 40,092,733	S78P	probably damaging	Het
Pard6g	T	C	18: 80,079,822		probably benign	Het
Pbrm1	G	A	14: 31,052,260	R461H	probably damaging	Het
Ppm1f	C	A	16: 16,923,769	T369K	probably benign	Het
Ppp1r16b	C	T	2: 158,740,816		probably benign	Het
Prom2	T	C	2: 127,541,139	N61S	probably benign	Het
Psmc2	T	C	5: 21,801,198		probably benign	Het
Psme2	A	G	14: 55,588,436		probably benign	Het
Ptprc	T	C	1: 138,080,912	H655R	probably damaging	Het
Pxdn	A	C	12: 29,987,099	N292T	probably damaging	Het
Rapgef2	T	C	3: 79,070,138	I1301V	probably benign	Het
Rnase11	T	C	14: 51,049,864	I78V	probably benign	Het
Rpl41	A	G	10: 128,548,377		probably benign	Het
Sgf29	G	A	7: 126,664,931	R56Q	possibly damaging	Het
Sis	A	G	3: 72,911,876	L1449S	probably damaging	Het
Slc34a2	T	A	5: 53,067,630	V371D	possibly damaging	Het
Son	C	A	16: 91,655,910	T515K	probably damaging	Het
Tbx15	A	T	3: 99,316,246	D250V	probably damaging	Het
Tmem171	T	A	13: 98,686,518		probably null	Het
Ugt2b36	C	T	5: 87,080,869		probably null	Het
Vill	G	A	9: 119,070,350		probably null	Het
Vmn2r22	A	G	6: 123,638,053	F193L	probably damaging	Het
Vmn2r95	C	T	17: 18,452,328		probably benign	Het
Vstm2a	T	A	11: 16,281,874	V223D	possibly damaging	Het

Other mutations in C87977

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02950:C87977	APN	4	144212961	missense	probably benign	0.06
IGL03174:C87977	APN	4	144208430	missense	probably benign
IGL03178:C87977	APN	4	144208251	critical splice donor site	probably null
PIT4812001:C87977	UTSW	4	144209516	missense	probably benign
R0622:C87977	UTSW	4	144213013	unclassified	probably benign
R0634:C87977	UTSW	4	144209340	critical splice donor site	probably null
R1127:C87977	UTSW	4	144207124	missense	probably damaging	1.00
R1341:C87977	UTSW	4	144207559	missense	probably damaging	1.00
R1697:C87977	UTSW	4	144208592	missense	probably damaging	1.00
R1827:C87977	UTSW	4	144209610	missense	probably damaging	0.99
R1857:C87977	UTSW	4	144208521	missense	possibly damaging	0.74
R2859:C87977	UTSW	4	144209622	missense	probably benign	0.11
R4063:C87977	UTSW	4	144208695	missense	possibly damaging	0.87
R4114:C87977	UTSW	4	144209603	missense	probably damaging	1.00
R4130:C87977	UTSW	4	144208809	missense	probably damaging	0.99
R4255:C87977	UTSW	4	144207484	missense	possibly damaging	0.68
R4704:C87977	UTSW	4	144208592	missense	probably damaging	1.00
R4840:C87977	UTSW	4	144208574	missense	probably damaging	0.98
R5267:C87977	UTSW	4	144213005	unclassified	probably benign
R5670:C87977	UTSW	4	144209622	missense	probably benign	0.11
R6149:C87977	UTSW	4	144207413	missense	probably damaging	0.98
R6508:C87977	UTSW	4	144207601	nonsense	probably null
R6528:C87977	UTSW	4	144208811	missense	probably damaging	0.99
R7252:C87977	UTSW	4	144212940	missense	possibly damaging	0.95
R7564:C87977	UTSW	4	144212955	missense	probably damaging	1.00
R7704:C87977	UTSW	4	144208521	missense	possibly damaging	0.74
Z1176:C87977	UTSW	4	144207461	missense	probably benign	0.03

Posted On

2013-06-28