Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02159:BC030867'

282385

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC030867

Ensembl Gene

ENSMUSG00000034773

Gene Name

cDNA sequence BC030867

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.460) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

102248882-102265187 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 102260165 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100392] [ENSMUST00000100392] [ENSMUST00000133930]

AlphaFold

Q32P12

Predicted Effect

probably null
Transcript: ENSMUST00000100392

SMART Domains

Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	100	108	N/A	INTRINSIC
low complexity region	302	317	N/A	INTRINSIC
Pfam:DUF4539	458	541	4.4e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000100392

SMART Domains

Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	100	108	N/A	INTRINSIC
low complexity region	302	317	N/A	INTRINSIC
Pfam:DUF4539	458	541	4.4e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133930

SMART Domains

Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	100	108	N/A	INTRINSIC
low complexity region	302	317	N/A	INTRINSIC
Pfam:DUF4539	457	542	3.2e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152897

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,610,665	L257S	probably damaging	Het
2210010C04Rik	T	C	6: 41,032,957	T148A	probably benign	Het
Abca13	A	G	11: 9,314,545	S2976G	probably benign	Het
Afmid	T	C	11: 117,836,426	W267R	probably damaging	Het
Ahi1	A	G	10: 21,058,177	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,594,656		probably benign	Het
Ank3	A	G	10: 69,808,892	H62R	probably damaging	Het
Arid2	T	C	15: 96,358,912		probably benign	Het
Caps2	G	A	10: 112,204,023	V457M	probably benign	Het
Capza1	T	C	3: 104,864,371	D3G	possibly damaging	Het
Cav1	T	A	6: 17,307,972	V41E	possibly damaging	Het
Celf2	G	T	2: 6,604,177	C264*	probably null	Het
Clec4a2	C	T	6: 123,139,326	S150L	probably benign	Het
D7Ertd443e	A	T	7: 134,349,400	D181E	possibly damaging	Het
Epyc	A	G	10: 97,670,631	E100G	probably benign	Het
Hdac11	A	G	6: 91,173,102	I294M	probably damaging	Het
Hsdl1	A	G	8: 119,566,414	V73A	probably benign	Het
Kmt2c	A	T	5: 25,311,343	S2501T	probably benign	Het
Lrrc41	T	A	4: 116,088,486	F133I	probably benign	Het
Map3k19	C	A	1: 127,823,170	G815C	probably benign	Het
Muc13	C	A	16: 33,799,479	T199K	unknown	Het
Nif3l1	G	T	1: 58,447,946		probably null	Het
Nlrp12	A	T	7: 3,249,545		probably benign	Het
Nup205	T	C	6: 35,189,178	S244P	probably damaging	Het
Olfr1353	A	T	10: 78,969,901	N84I	probably damaging	Het
Parl	G	A	16: 20,280,088		probably benign	Het
Pax8	A	G	2: 24,440,788	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,730,853	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,380,231	L478P	probably benign	Het
Serpina1a	C	T	12: 103,854,706	G338R	probably damaging	Het
Serpina5	T	C	12: 104,105,298	L388P	possibly damaging	Het
Sorbs1	A	G	19: 40,327,596	V367A	probably damaging	Het
Srgap2	A	G	1: 131,319,666		probably benign	Het
Surf1	A	G	2: 26,915,651	L26P	probably damaging	Het
Taf4	A	G	2: 179,938,470	S486P	probably benign	Het
Tdrd6	A	T	17: 43,628,390	V589E	probably damaging	Het
Tuba3b	T	G	6: 145,619,666	S287A	probably benign	Het
Txnrd3	G	A	6: 89,669,324	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,379		probably benign	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Usp32	A	G	11: 85,005,802		probably null	Het
Utp23	G	A	15: 51,882,365	R87K	probably benign	Het
Vps8	T	C	16: 21,466,484	I405T	possibly damaging	Het

Other mutations in BC030867

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:BC030867	APN	11	102255957	missense	possibly damaging	0.95
IGL01645:BC030867	APN	11	102255186	missense	probably damaging	1.00
IGL01750:BC030867	APN	11	102254951	splice site	probably benign
IGL01759:BC030867	APN	11	102255596	missense	probably benign
IGL01760:BC030867	APN	11	102255596	missense	probably benign
IGL01761:BC030867	APN	11	102255596	missense	probably benign
IGL01762:BC030867	APN	11	102255596	missense	probably benign
IGL01764:BC030867	APN	11	102255596	missense	probably benign
IGL01769:BC030867	APN	11	102255596	missense	probably benign
IGL01778:BC030867	APN	11	102255596	missense	probably benign
IGL02156:BC030867	APN	11	102255039	missense	probably damaging	1.00
IGL02284:BC030867	APN	11	102255596	missense	probably benign
IGL02522:BC030867	APN	11	102257920	missense	possibly damaging	0.94
IGL02989:BC030867	APN	11	102255299	missense	probably benign	0.00
R2376:BC030867	UTSW	11	102250716	missense	probably benign	0.05
R2504:BC030867	UTSW	11	102255296	missense	possibly damaging	0.48
R3731:BC030867	UTSW	11	102257906	missense	possibly damaging	0.95
R5566:BC030867	UTSW	11	102255833	missense	probably damaging	0.99
R5774:BC030867	UTSW	11	102255669	missense	possibly damaging	0.82
R5864:BC030867	UTSW	11	102255146	missense	probably benign	0.00
R6013:BC030867	UTSW	11	102255033	missense	probably benign	0.00
R6250:BC030867	UTSW	11	102255062	missense	probably benign
R7264:BC030867	UTSW	11	102255596	missense	probably benign	0.00
R8013:BC030867	UTSW	11	102257899	missense	probably benign	0.02
R8014:BC030867	UTSW	11	102257899	missense	probably benign	0.02
R8266:BC030867	UTSW	11	102262220	missense	possibly damaging	0.94
R8770:BC030867	UTSW	11	102255150	missense	probably benign	0.00
R8982:BC030867	UTSW	11	102255284	missense	probably benign	0.22
R9058:BC030867	UTSW	11	102255560	missense	probably benign	0.03
R9498:BC030867	UTSW	11	102259341	missense	probably benign	0.03
R9646:BC030867	UTSW	11	102255760	missense	possibly damaging	0.84
R9647:BC030867	UTSW	11	102255760	missense	possibly damaging	0.84
R9766:BC030867	UTSW	11	102255760	missense	possibly damaging	0.84
X0062:BC030867	UTSW	11	102255755	missense	possibly damaging	0.89
X0065:BC030867	UTSW	11	102250727	missense	probably damaging	1.00

Posted On

2015-04-16