Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03242:BC027072'

414902

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC027072

Ensembl Gene

ENSMUSG00000044375

Gene Name

cDNA sequence BC027072

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL03242

Quality Score

Status

Chromosome

Chromosomal Location

71743557-71752885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71750271 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 804 (S804P)

Ref Sequence

ENSEMBL: ENSMUSP00000051871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057405]

Predicted Effect

probably benign
Transcript: ENSMUST00000057405
AA Change: S804P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: S804P

Domain	Start	End	E-Value	Type
Pfam:Retinal	1	1255	N/A	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe early-onset retinal degeneration associated with a disorganized outer segment, progressive thinning of the outer nuclear layer, microglia activation, decreased a- and b-wave amplitudes, and nearly undetectable ERG responses by 8 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,932,545	F575L	possibly damaging	Het
4930562C15Rik	T	C	16: 4,849,325	W221R	unknown	Het
Ank2	A	G	3: 126,928,805	F1000L	possibly damaging	Het
Bahcc1	T	C	11: 120,268,300		probably benign	Het
BC024139	T	C	15: 76,120,320	M679V	probably benign	Het
Carmil2	A	G	8: 105,691,320		probably benign	Het
Catsperg2	A	G	7: 29,725,479		probably benign	Het
Chrnb4	A	T	9: 55,035,528	I154K	probably damaging	Het
Clec2e	A	C	6: 129,095,026	L130W	probably damaging	Het
Coro2b	G	T	9: 62,428,961	Y281*	probably null	Het
Dlk2	A	G	17: 46,302,977	Y386C	probably benign	Het
Dnah7a	A	T	1: 53,620,723	F709I	probably benign	Het
Exoc1	T	C	5: 76,559,007	L467P	probably damaging	Het
Fkbp2	A	G	19: 6,978,612	V75A	probably benign	Het
Glud1	T	C	14: 34,334,280	F304L	probably benign	Het
Gm11639	A	C	11: 105,106,404	E140A	probably damaging	Het
Gsr	T	A	8: 33,685,599	V291E	probably benign	Het
Kap	A	G	6: 133,851,800		probably benign	Het
Kmt2a	G	T	9: 44,848,392	T720N	probably damaging	Het
Lrrtm4	T	C	6: 80,022,088	I161T	probably benign	Het
Lyst	T	A	13: 13,656,881	L1630*	probably null	Het
Med13l	A	G	5: 118,747,445	S1488G	probably benign	Het
Mlxip	A	G	5: 123,440,061	K147E	probably damaging	Het
Nalcn	T	C	14: 123,321,487	E810G	possibly damaging	Het
Olfr474	T	C	7: 107,955,481	V280A	possibly damaging	Het
Olfr683	G	A	7: 105,144,266	S15F	probably benign	Het
Olfr710	A	G	7: 106,944,918	F28L	possibly damaging	Het
Piezo2	T	C	18: 63,011,538		probably benign	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Serpina3j	G	A	12: 104,319,701	A372T	possibly damaging	Het
Slc28a3	G	A	13: 58,574,249	Q274*	probably null	Het
Ssfa2	C	T	2: 79,643,471	R189*	probably null	Het
Stk36	T	C	1: 74,623,352	F543S	possibly damaging	Het
Tfrc	T	C	16: 32,630,112	S690P	probably damaging	Het
Tg	C	A	15: 66,683,798	Q780K	probably damaging	Het
Top1	T	A	2: 160,715,733	H578Q	probably damaging	Het
Treh	A	G	9: 44,685,337	T463A	possibly damaging	Het
Treml1	G	A	17: 48,365,988		probably benign	Het
Trpm2	A	G	10: 77,917,734	V1312A	probably benign	Het
Ttc41	T	A	10: 86,776,819	*1319K	probably null	Het
Tulp2	A	G	7: 45,521,858	I354M	probably damaging	Het
Ugt2b35	T	C	5: 87,007,395	L363P	probably damaging	Het
Usp13	A	T	3: 32,902,069	M496L	probably benign	Het
Virma	T	C	4: 11,527,669	S1187P	possibly damaging	Het
Wdr76	T	A	2: 121,542,470	C593S	probably damaging	Het
Zfp446	G	A	7: 12,979,325	A97T	probably damaging	Het

Other mutations in BC027072

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02010:BC027072	APN	17	71749464	missense	probably benign	0.38
IGL02033:BC027072	APN	17	71751081	missense	probably damaging	1.00
IGL02711:BC027072	APN	17	71749382	missense	probably benign	0.15
IGL03185:BC027072	APN	17	71749337	missense	probably damaging	0.98
R0367:BC027072	UTSW	17	71750476	missense	probably damaging	1.00
R0413:BC027072	UTSW	17	71752217	missense	probably benign	0.38
R0465:BC027072	UTSW	17	71750160	missense	probably benign	0.42
R0535:BC027072	UTSW	17	71752439	missense	probably benign	0.01
R0681:BC027072	UTSW	17	71749514	missense	probably benign	0.00
R0736:BC027072	UTSW	17	71744664	missense	probably benign	0.00
R1406:BC027072	UTSW	17	71749161	missense	probably benign	0.18
R1406:BC027072	UTSW	17	71749161	missense	probably benign	0.18
R1530:BC027072	UTSW	17	71749478	missense	probably benign	0.01
R1723:BC027072	UTSW	17	71750378	missense	probably damaging	1.00
R1941:BC027072	UTSW	17	71752068	missense	probably damaging	1.00
R2179:BC027072	UTSW	17	71752526	missense	probably damaging	1.00
R2232:BC027072	UTSW	17	71749284	missense	probably benign	0.00
R2519:BC027072	UTSW	17	71751647	missense	probably damaging	1.00
R2997:BC027072	UTSW	17	71744711	critical splice acceptor site	probably benign
R3899:BC027072	UTSW	17	71750160	missense	probably benign	0.00
R4890:BC027072	UTSW	17	71752311	missense	possibly damaging	0.50
R4898:BC027072	UTSW	17	71751071	missense	probably damaging	1.00
R5347:BC027072	UTSW	17	71749935	missense	probably benign	0.00
R5436:BC027072	UTSW	17	71750842	missense	probably damaging	1.00
R5527:BC027072	UTSW	17	71752640	missense	probably damaging	1.00
R5556:BC027072	UTSW	17	71752425	missense	possibly damaging	0.81
R5625:BC027072	UTSW	17	71751326	missense	probably damaging	1.00
R5707:BC027072	UTSW	17	71751572	missense	possibly damaging	0.90
R5932:BC027072	UTSW	17	71751753	missense	probably damaging	1.00
R6043:BC027072	UTSW	17	71750042	missense	probably damaging	1.00
R6314:BC027072	UTSW	17	71752457	missense	probably benign	0.04
R6513:BC027072	UTSW	17	71744706	missense	probably damaging	1.00
R7575:BC027072	UTSW	17	71750855	missense	probably damaging	1.00
R7638:BC027072	UTSW	17	71750885	missense	probably damaging	1.00
R7848:BC027072	UTSW	17	71749193	missense	probably benign	0.04
R8317:BC027072	UTSW	17	71749202	missense	probably benign	0.10
R8530:BC027072	UTSW	17	71752106	missense	probably damaging	1.00
R8671:BC027072	UTSW	17	71751377	missense	probably benign	0.34
R8831:BC027072	UTSW	17	71752310	missense	probably benign	0.01
R8854:BC027072	UTSW	17	71749331	missense	probably benign
X0035:BC027072	UTSW	17	71744711	critical splice acceptor site	probably benign
Z1177:BC027072	UTSW	17	71750403	missense	probably damaging	1.00

Posted On

2016-08-02