Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:BC030867'

278855

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 essential (E-score: 0.588) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

102248882-102265187 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102255596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 233 (C233R)

Ref Sequence

ENSEMBL: ENSMUSP00000137686 (fasta)

Gene Model

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

AlphaFold

Q32P12

Predicted Effect

probably benign
Transcript: ENSMUST00000100392
AA Change: C233R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: C233R

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
AA Change: C233R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: C233R

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: ENSMUST00000148867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152897

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,835,799 (GRCm38)	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,081,139 (GRCm38)	I277N	probably damaging	Het
Ap1b1	C	T	11: 5,019,433 (GRCm38)	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335 (GRCm38)	V313L	probably damaging	Het
Car2	G	A	3: 14,895,628 (GRCm38)		probably null	Het
Cdh17	T	A	4: 11,771,262 (GRCm38)		probably benign	Het
Cep295	A	G	9: 15,323,559 (GRCm38)		probably null	Het
Cep97	T	C	16: 55,930,573 (GRCm38)	K27E	probably damaging	Het
Cops5	A	T	1: 10,027,249 (GRCm38)	N258K	probably damaging	Het
Dchs1	T	A	7: 105,755,302 (GRCm38)	T2678S	probably benign	Het
Dnah10	T	A	5: 124,755,786 (GRCm38)	F861Y	probably benign	Het
Dock10	T	C	1: 80,526,273 (GRCm38)	E1777G	probably damaging	Het
Dock5	G	A	14: 67,881,259 (GRCm38)	Q23*	probably null	Het
Ermp1	T	C	19: 29,615,836 (GRCm38)	K752R	probably benign	Het
Fam160a1	A	C	3: 85,688,447 (GRCm38)	I377S	probably damaging	Het
Gjd2	T	A	2: 114,011,106 (GRCm38)	I297L	probably benign	Het
Gm1123	T	C	9: 99,023,254 (GRCm38)	M68V	probably benign	Het
Gm28372	C	T	2: 130,406,898 (GRCm38)	R59W	probably damaging	Het
Gm9912	A	C	3: 149,185,438 (GRCm38)	F20V	unknown	Het
Gpat2	T	C	2: 127,430,896 (GRCm38)	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,055,665 (GRCm38)	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,696,420 (GRCm38)	D40V	probably damaging	Het
Jakmip3	A	T	7: 139,020,904 (GRCm38)	Q331L	probably damaging	Het
Kif5b	A	G	18: 6,225,647 (GRCm38)	V179A	probably damaging	Het
Kif5b	A	T	18: 6,211,019 (GRCm38)		probably benign	Het
Krt14	A	T	11: 100,204,416 (GRCm38)		probably benign	Het
L3mbtl3	A	G	10: 26,331,900 (GRCm38)	F307S	unknown	Het
Laptm4a	T	C	12: 8,934,687 (GRCm38)		probably benign	Het
Marveld3	T	C	8: 109,948,087 (GRCm38)	S366G	possibly damaging	Het
Mga	C	A	2: 119,951,195 (GRCm38)	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,592,331 (GRCm38)	N54S	probably benign	Het
Mras	T	C	9: 99,411,495 (GRCm38)	I31V	probably damaging	Het
Myh1	A	G	11: 67,219,906 (GRCm38)	D1518G	probably damaging	Het
Myoz2	A	T	3: 123,013,781 (GRCm38)	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,013,962 (GRCm38)	W273L	probably benign	Het
Nol9	C	T	4: 152,046,043 (GRCm38)		probably benign	Het
Nrxn2	T	C	19: 6,509,929 (GRCm38)	V1206A	probably damaging	Het
Olfr180	A	T	16: 58,915,928 (GRCm38)	F238I	probably damaging	Het
Olfr523	T	C	7: 140,176,534 (GRCm38)	I138T	probably benign	Het
Olfr694	T	C	7: 106,689,333 (GRCm38)	T133A	probably benign	Het
Olfr774	T	A	10: 129,239,072 (GRCm38)	F308I	probably benign	Het
Olfr971	T	A	9: 39,839,611 (GRCm38)	M59K	probably damaging	Het
Pappa	T	C	4: 65,205,158 (GRCm38)		probably null	Het
Pfkl	A	G	10: 78,000,731 (GRCm38)	S151P	probably damaging	Het
Pgbd5	C	T	8: 124,384,379 (GRCm38)	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,253,353 (GRCm38)	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,348,316 (GRCm38)	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,175,932 (GRCm38)	V386L	probably benign	Het
S1pr3	G	A	13: 51,419,512 (GRCm38)	R243Q	probably damaging	Het
Slc44a4	A	G	17: 34,921,243 (GRCm38)	D208G	probably benign	Het
Slc6a4	T	C	11: 77,013,288 (GRCm38)	S190P	probably damaging	Het
Snapc5	A	T	9: 64,180,497 (GRCm38)		probably null	Het
Tbc1d14	C	A	5: 36,571,569 (GRCm38)	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,931,392 (GRCm38)		probably benign	Het
Tmem219	G	A	7: 126,897,138 (GRCm38)	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951 (GRCm38)	R51G	probably null	Het
Ugp2	T	C	11: 21,353,447 (GRCm38)	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,034,492 (GRCm38)	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,064,068 (GRCm38)	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,789 (GRCm38)	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,655 (GRCm38)	D679G	probably damaging	Het
Zhx3	T	C	2: 160,780,714 (GRCm38)	N511S	probably damaging	Het

Other mutations in BC030867

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:BC030867	APN	11	102,255,957 (GRCm38)	missense	possibly damaging	0.95
IGL01645:BC030867	APN	11	102,255,186 (GRCm38)	missense	probably damaging	1.00
IGL01750:BC030867	APN	11	102,254,951 (GRCm38)	splice site	probably benign
IGL01760:BC030867	APN	11	102,255,596 (GRCm38)	missense	probably benign
IGL01761:BC030867	APN	11	102,255,596 (GRCm38)	missense	probably benign
IGL01762:BC030867	APN	11	102,255,596 (GRCm38)	missense	probably benign
IGL01764:BC030867	APN	11	102,255,596 (GRCm38)	missense	probably benign
IGL01769:BC030867	APN	11	102,255,596 (GRCm38)	missense	probably benign
IGL01778:BC030867	APN	11	102,255,596 (GRCm38)	missense	probably benign
IGL02156:BC030867	APN	11	102,255,039 (GRCm38)	missense	probably damaging	1.00
IGL02159:BC030867	APN	11	102,260,165 (GRCm38)	critical splice donor site	probably null
IGL02284:BC030867	APN	11	102,255,596 (GRCm38)	missense	probably benign
IGL02522:BC030867	APN	11	102,257,920 (GRCm38)	missense	possibly damaging	0.94
IGL02989:BC030867	APN	11	102,255,299 (GRCm38)	missense	probably benign	0.00
R2376:BC030867	UTSW	11	102,250,716 (GRCm38)	missense	probably benign	0.05
R2504:BC030867	UTSW	11	102,255,296 (GRCm38)	missense	possibly damaging	0.48
R3731:BC030867	UTSW	11	102,257,906 (GRCm38)	missense	possibly damaging	0.95
R5566:BC030867	UTSW	11	102,255,833 (GRCm38)	missense	probably damaging	0.99
R5774:BC030867	UTSW	11	102,255,669 (GRCm38)	missense	possibly damaging	0.82
R5864:BC030867	UTSW	11	102,255,146 (GRCm38)	missense	probably benign	0.00
R6013:BC030867	UTSW	11	102,255,033 (GRCm38)	missense	probably benign	0.00
R6250:BC030867	UTSW	11	102,255,062 (GRCm38)	missense	probably benign
R7264:BC030867	UTSW	11	102,255,596 (GRCm38)	missense	probably benign	0.00
R8013:BC030867	UTSW	11	102,257,899 (GRCm38)	missense	probably benign	0.02
R8014:BC030867	UTSW	11	102,257,899 (GRCm38)	missense	probably benign	0.02
R8266:BC030867	UTSW	11	102,262,220 (GRCm38)	missense	possibly damaging	0.94
R8770:BC030867	UTSW	11	102,255,150 (GRCm38)	missense	probably benign	0.00
R8982:BC030867	UTSW	11	102,255,284 (GRCm38)	missense	probably benign	0.22
R9058:BC030867	UTSW	11	102,255,560 (GRCm38)	missense	probably benign	0.03
R9498:BC030867	UTSW	11	102,259,341 (GRCm38)	missense	probably benign	0.03
R9646:BC030867	UTSW	11	102,255,760 (GRCm38)	missense	possibly damaging	0.84
R9647:BC030867	UTSW	11	102,255,760 (GRCm38)	missense	possibly damaging	0.84
R9766:BC030867	UTSW	11	102,255,760 (GRCm38)	missense	possibly damaging	0.84
X0062:BC030867	UTSW	11	102,255,755 (GRCm38)	missense	possibly damaging	0.89
X0065:BC030867	UTSW	11	102,250,727 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16