Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02350:BC005624'

289748

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC005624

Ensembl Gene

ENSMUSG00000026851

Gene Name

cDNA sequence BC005624

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

IGL02350

Quality Score

Status

Chromosome

Chromosomal Location

30862845-30872225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30863779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 235 (P235S)

Ref Sequence

ENSEMBL: ENSMUSP00000028205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028205]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028205
AA Change: P235S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028205
Gene: ENSMUSG00000026851
AA Change: P235S

Domain	Start	End	E-Value	Type
coiled coil region	10	37	N/A	INTRINSIC
Pfam:Hep_59	101	197	3e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152007

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	G	8: 71,914,121 (GRCm39)	V169A	probably benign	Het
Adamts16	T	A	13: 70,886,704 (GRCm39)	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,418,974 (GRCm39)	C6007F	probably benign	Het
Ak8	A	T	2: 28,590,225 (GRCm39)	H8L	probably benign	Het
Apol7b	A	G	15: 77,307,832 (GRCm39)	V221A	probably benign	Het
Cd96	A	G	16: 45,890,139 (GRCm39)		probably benign	Het
Celf1	A	T	2: 90,828,933 (GRCm39)	K27I	probably damaging	Het
Cfap65	A	T	1: 74,967,507 (GRCm39)	C190*	probably null	Het
Cib2	A	T	9: 54,457,170 (GRCm39)	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,016,152 (GRCm39)	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,039,558 (GRCm39)	M2104V	possibly damaging	Het
Dph3b-ps	A	G	13: 106,683,453 (GRCm39)		noncoding transcript	Het
Emb	A	G	13: 117,386,007 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,237,067 (GRCm39)	N645K	possibly damaging	Het
Fes	T	C	7: 80,033,578 (GRCm39)		probably null	Het
Flnc	A	T	6: 29,438,492 (GRCm39)	K129*	probably null	Het
Gckr	C	A	5: 31,465,134 (GRCm39)	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,790,702 (GRCm39)	I27F	probably damaging	Het
Hecw1	A	G	13: 14,422,923 (GRCm39)		probably null	Het
Hivep3	T	G	4: 119,980,222 (GRCm39)	C1753W	probably damaging	Het
Hook2	C	T	8: 85,721,614 (GRCm39)	Q291*	probably null	Het
Jakmip2	T	C	18: 43,680,192 (GRCm39)	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,279,007 (GRCm39)	I53V	probably benign	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,216,547 (GRCm39)	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,941,482 (GRCm39)	N338S	probably benign	Het
Mrpl23	T	A	7: 142,089,802 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,741,073 (GRCm39)	N1442S	probably benign	Het
Ngdn	T	A	14: 55,259,393 (GRCm39)	V179E	probably damaging	Het
Nxn	A	G	11: 76,165,480 (GRCm39)		probably benign	Het
Or10am5	T	A	7: 6,518,225 (GRCm39)	M68L	probably damaging	Het
Or2b7	A	G	13: 21,739,772 (GRCm39)	L140P	probably damaging	Het
Osmr	A	T	15: 6,858,144 (GRCm39)	N441K	probably benign	Het
Plcb3	A	C	19: 6,935,546 (GRCm39)	L789R	probably damaging	Het
Plek	C	T	11: 16,931,846 (GRCm39)	R335H	probably damaging	Het
Pmp22	G	T	11: 63,049,134 (GRCm39)	V126F	probably benign	Het
Prom1	A	G	5: 44,186,946 (GRCm39)		probably benign	Het
Prss1	C	A	6: 41,440,139 (GRCm39)	Q159K	probably damaging	Het
Psd3	G	T	8: 68,416,521 (GRCm39)	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351 (GRCm39)	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,210,415 (GRCm39)	I362V	probably benign	Het
Slc22a22	A	G	15: 57,110,844 (GRCm39)	V461A	probably benign	Het
Slc35e4	C	T	11: 3,862,640 (GRCm39)	R183Q	probably benign	Het
Spen	T	C	4: 141,204,890 (GRCm39)	T1246A	unknown	Het
Syt16	T	C	12: 74,313,616 (GRCm39)	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,559,735 (GRCm39)	V79A	possibly damaging	Het
Ttn	A	G	2: 76,539,963 (GRCm39)	V34341A	probably benign	Het
Vxn	T	C	1: 9,683,544 (GRCm39)	I44T	possibly damaging	Het
Wwox	T	C	8: 115,438,882 (GRCm39)	V316A	possibly damaging	Het

Other mutations in BC005624

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:BC005624	APN	2	30,868,946 (GRCm39)	missense	probably benign	0.37
IGL02357:BC005624	APN	2	30,863,779 (GRCm39)	missense	probably benign	0.22
IGL02887:BC005624	APN	2	30,863,317 (GRCm39)	splice site	probably benign
R0401:BC005624	UTSW	2	30,870,021 (GRCm39)	missense	probably benign	0.12
R0732:BC005624	UTSW	2	30,863,949 (GRCm39)	missense	possibly damaging	0.87
R1629:BC005624	UTSW	2	30,864,020 (GRCm39)	missense	probably damaging	1.00
R1706:BC005624	UTSW	2	30,868,922 (GRCm39)	missense	possibly damaging	0.63
R1712:BC005624	UTSW	2	30,864,020 (GRCm39)	missense	probably damaging	1.00
R5840:BC005624	UTSW	2	30,871,869 (GRCm39)	missense	probably benign	0.01
R5844:BC005624	UTSW	2	30,866,023 (GRCm39)	missense	probably benign	0.02
R6932:BC005624	UTSW	2	30,868,940 (GRCm39)	missense	possibly damaging	0.76
R7836:BC005624	UTSW	2	30,864,032 (GRCm39)	missense	probably damaging	1.00
R8032:BC005624	UTSW	2	30,865,901 (GRCm39)	critical splice donor site	probably null
R8333:BC005624	UTSW	2	30,863,748 (GRCm39)	missense	probably benign	0.00
R8463:BC005624	UTSW	2	30,871,817 (GRCm39)	missense	possibly damaging	0.80
R8488:BC005624	UTSW	2	30,871,857 (GRCm39)	missense	possibly damaging	0.83

Posted On

2015-04-16