Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02063:BC005624'

185511

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 #

IGL02063

Quality Score

Status

Chromosome

Chromosomal Location

30862845-30872225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30868946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 76 (M76T)

Ref Sequence

ENSEMBL: ENSMUSP00000028205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028205] [ENSMUST00000061544] [ENSMUST00000102849] [ENSMUST00000138161] [ENSMUST00000142232]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028205
AA Change: M76T

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028205
Gene: ENSMUSG00000026851
AA Change: M76T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061544

SMART Domains

Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	95	3.2e-18	PFAM
low complexity region	128	138	N/A	INTRINSIC
Pfam:UCH	144	210	2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102849

SMART Domains

Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	95	4.3e-17	PFAM
low complexity region	128	138	N/A	INTRINSIC
Pfam:UCH	144	684	5e-63	PFAM
Pfam:UCH_1	145	669	8.8e-24	PFAM
DUSP	704	787	5.97e-28	SMART
DUSP	812	897	4.74e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138161

SMART Domains

Protein: ENSMUSP00000116696
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	77	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142232

SMART Domains

Protein: ENSMUSP00000115347
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
PDB:2UZG\|A	70	99	5e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192882

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	A	G	12: 105,614,581 (GRCm39)	Y1117H	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,480 (GRCm39)	R24G	probably damaging	Het
Blm	G	T	7: 80,159,167 (GRCm39)	S323*	probably null	Het
Card19	C	A	13: 49,356,607 (GRCm39)	G181*	probably null	Het
Cilp2	T	C	8: 70,335,515 (GRCm39)	I494M	probably damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,934,617 (GRCm39)	D1431G	probably benign	Het
Cped1	G	A	6: 22,138,701 (GRCm39)	C560Y	probably damaging	Het
Cyfip1	T	C	7: 55,576,096 (GRCm39)	S1091P	probably damaging	Het
Ddx24	A	G	12: 103,384,461 (GRCm39)	I466T	probably damaging	Het
Dlg2	T	A	7: 91,459,684 (GRCm39)		probably benign	Het
Esf1	C	A	2: 140,006,377 (GRCm39)	D257Y	possibly damaging	Het
Fgfr2	A	G	7: 129,769,485 (GRCm39)	F634S	probably damaging	Het
Flywch2	A	G	17: 23,996,081 (GRCm39)		probably benign	Het
Gbp10	A	T	5: 105,383,906 (GRCm39)	I32N	possibly damaging	Het
Gli3	A	G	13: 15,900,957 (GRCm39)	D1448G	possibly damaging	Het
Gm10335	T	C	10: 14,399,147 (GRCm39)		probably benign	Het
Golga5	A	T	12: 102,438,418 (GRCm39)	E44D	probably benign	Het
H2-M10.1	C	T	17: 36,634,901 (GRCm39)		probably benign	Het
Ino80b	A	T	6: 83,101,143 (GRCm39)	D141E	probably damaging	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Krt73	C	T	15: 101,704,204 (GRCm39)		probably benign	Het
Loxl4	G	T	19: 42,596,778 (GRCm39)	L78I	probably benign	Het
Mbd5	A	T	2: 49,164,779 (GRCm39)	N360I	probably damaging	Het
Nfat5	A	T	8: 108,088,450 (GRCm39)	M495L	probably benign	Het
Nrxn3	A	T	12: 88,762,565 (GRCm39)	E204V	possibly damaging	Het
Or8k21	G	T	2: 86,145,137 (GRCm39)	F164L	possibly damaging	Het
Paqr4	A	T	17: 23,958,886 (GRCm39)	C38*	probably null	Het
Pcdhb13	T	A	18: 37,577,282 (GRCm39)	N553K	probably damaging	Het
Pcdhb9	T	A	18: 37,534,810 (GRCm39)	M268K	probably benign	Het
Pdap1	A	T	5: 145,071,869 (GRCm39)		probably benign	Het
Phf2	A	T	13: 48,975,118 (GRCm39)	Y281N	unknown	Het
Phka2	T	A	X: 159,347,209 (GRCm39)	I664N	possibly damaging	Het
Plekha7	A	T	7: 115,739,936 (GRCm39)	D762E	possibly damaging	Het
Plekhg4	T	A	8: 106,105,884 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,740,706 (GRCm39)	Q1006L	probably null	Het
Pramel12	C	A	4: 143,144,421 (GRCm39)	Q256K	probably benign	Het
Prmt5	G	A	14: 54,748,477 (GRCm39)	Q197*	probably null	Het
Prodh	A	T	16: 17,897,049 (GRCm39)		probably null	Het
Ptgr3	T	A	18: 84,113,390 (GRCm39)	Y355*	probably null	Het
Rnft2	A	G	5: 118,380,587 (GRCm39)		probably benign	Het
Rp1l1	G	T	14: 64,266,985 (GRCm39)	S857I	probably damaging	Het
Samd9l	A	G	6: 3,372,992 (GRCm39)	F1423S	probably damaging	Het
Scn3a	A	G	2: 65,291,854 (GRCm39)	Y1631H	probably damaging	Het
Slc22a5	A	T	11: 53,765,899 (GRCm39)	I229K	probably damaging	Het
Slco1a7	T	C	6: 141,684,615 (GRCm39)	D280G	probably benign	Het
Snd1	T	A	6: 28,526,220 (GRCm39)		probably benign	Het
Srrm1	G	T	4: 135,074,518 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,874 (GRCm39)	V5252A	probably damaging	Het
Tek	A	G	4: 94,627,882 (GRCm39)	D2G	probably benign	Het
Uba1	T	C	X: 20,545,964 (GRCm39)	S803P	probably damaging	Het
Uggt2	A	G	14: 119,326,605 (GRCm39)	I202T	possibly damaging	Het
Umodl1	A	T	17: 31,206,888 (GRCm39)	I760F	probably benign	Het
Vgll1	A	G	X: 56,144,569 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,676,276 (GRCm39)	V347A	probably benign	Het
Zswim9	T	C	7: 12,994,608 (GRCm39)	E516G	probably damaging	Het

Other mutations in BC005624

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02350:BC005624	APN	2	30,863,779 (GRCm39)	missense	probably benign	0.22
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

2014-05-07