Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03090:Clba1'

418356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clba1

Ensembl Gene

ENSMUSG00000037594

Gene Name

clathrin binding box of aftiphilin containing 1

Synonyms

C130001I08Rik, BC022687, Flj20080

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL03090

Quality Score

Status

Chromosome

Chromosomal Location

112772595-112779865 bp(+) (GRCm39)

Type of Mutation

splice site (2 bp from exon)

DNA Base Change (assembly)

T to C at 112779340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037014] [ENSMUST00000062092] [ENSMUST00000177808] [ENSMUST00000220899]

AlphaFold

Q8BHN9

Predicted Effect

probably benign
Transcript: ENSMUST00000037014

SMART Domains

Protein: ENSMUSP00000038002
Gene: ENSMUSG00000037594

Domain	Start	End	E-Value	Type
Pfam:Clathrin_bdg	189	268	3.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000062092

SMART Domains

Protein: ENSMUSP00000058901
Gene: ENSMUSG00000047832

Domain	Start	End	E-Value	Type
Pfam:SERTA	33	70	9.1e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000177808

SMART Domains

Protein: ENSMUSP00000137263
Gene: ENSMUSG00000037594

Domain	Start	End	E-Value	Type
Pfam:Clathrin_bdg	188	268	3.8e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220899

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
Adam20	A	G	8: 41,247,965 (GRCm39)	Y25C	probably benign	Het
Agap3	A	C	5: 24,706,204 (GRCm39)	T823P	possibly damaging	Het
Arap3	T	C	18: 38,122,165 (GRCm39)	E641G	probably benign	Het
Armc6	C	T	8: 70,684,004 (GRCm39)	R16Q	probably benign	Het
Asb15	T	A	6: 24,567,185 (GRCm39)	I502K	possibly damaging	Het
Atp8b3	T	A	10: 80,366,438 (GRCm39)	N275I	probably damaging	Het
Calr	G	A	8: 85,573,373 (GRCm39)	P19S	possibly damaging	Het
Cdc6	T	A	11: 98,810,122 (GRCm39)	L477*	probably null	Het
Cnnm4	A	G	1: 36,510,952 (GRCm39)	D60G	probably benign	Het
Col12a1	G	T	9: 79,585,652 (GRCm39)	Q1242K	probably damaging	Het
Dusp18	T	A	11: 3,847,466 (GRCm39)	I152N	probably damaging	Het
Eef1akmt1	T	C	14: 57,795,543 (GRCm39)	T69A	probably damaging	Het
Efhb	T	C	17: 53,769,958 (GRCm39)	Q117R	probably benign	Het
Fancd2	T	A	6: 113,514,558 (GRCm39)		probably null	Het
Fat3	C	T	9: 16,288,535 (GRCm39)	W329*	probably null	Het
Frem3	A	G	8: 81,344,858 (GRCm39)	Y1727C	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gatb	C	A	3: 85,526,330 (GRCm39)		probably benign	Het
Gpr33	A	T	12: 52,070,809 (GRCm39)	S77T	probably damaging	Het
Gramd1c	A	T	16: 43,802,463 (GRCm39)	D649E	probably benign	Het
Herc2	T	A	7: 55,854,221 (GRCm39)	L3745H	probably damaging	Het
Klk1b11	T	A	7: 43,426,977 (GRCm39)	M87K	probably benign	Het
Krt39	T	G	11: 99,409,833 (GRCm39)		probably benign	Het
Lamc3	T	A	2: 31,798,710 (GRCm39)		probably benign	Het
Lars2	T	G	9: 123,285,025 (GRCm39)	M786R	probably damaging	Het
Lmcd1	T	A	6: 112,287,460 (GRCm39)	S49T	probably benign	Het
Lrba	T	C	3: 86,680,448 (GRCm39)	Y2689H	probably benign	Het
Map3k6	T	C	4: 132,970,677 (GRCm39)	V188A	probably benign	Het
Mbd6	A	C	10: 127,123,013 (GRCm39)	L49W	probably damaging	Het
Myo5a	A	T	9: 75,028,115 (GRCm39)	Y100F	probably damaging	Het
Myo9a	T	A	9: 59,801,418 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,538,396 (GRCm39)	D663G	probably damaging	Het
Nup214	A	T	2: 31,908,254 (GRCm39)	M1075L	probably benign	Het
Pkd1l3	C	A	8: 110,382,165 (GRCm39)	Y240*	probably null	Het
Pomk	T	A	8: 26,473,338 (GRCm39)	N205I	probably damaging	Het
Sdr16c5	A	G	4: 4,006,575 (GRCm39)		probably benign	Het
Setd1a	A	G	7: 127,385,672 (GRCm39)	E250G	possibly damaging	Het
Slc26a6	A	G	9: 108,737,890 (GRCm39)	E541G	probably benign	Het
Slc4a3	A	G	1: 75,531,661 (GRCm39)	E876G	probably benign	Het
Srrm4	A	G	5: 116,587,643 (GRCm39)		probably benign	Het
Stx12	A	G	4: 132,590,540 (GRCm39)	V119A	probably benign	Het
Tmem8b	T	A	4: 43,689,721 (GRCm39)	S333T	probably damaging	Het
Usp31	T	C	7: 121,278,753 (GRCm39)		probably benign	Het
Utp18	T	C	11: 93,759,245 (GRCm39)	R410G	probably damaging	Het
Vmn1r172	T	C	7: 23,359,463 (GRCm39)	I116T	probably damaging	Het
Vwa8	T	A	14: 79,172,041 (GRCm39)	L274Q	possibly damaging	Het
Wdfy3	A	T	5: 102,014,142 (GRCm39)	F2655I	probably damaging	Het
Zfp423	A	T	8: 88,508,071 (GRCm39)	Y737N	probably damaging	Het
Zyx	C	A	6: 42,334,276 (GRCm39)	S500*	probably null	Het

Other mutations in Clba1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Clba1	APN	12	112,773,264 (GRCm39)	missense	probably damaging	0.99
IGL01813:Clba1	APN	12	112,779,179 (GRCm39)	missense	probably damaging	1.00
IGL03225:Clba1	APN	12	112,779,211 (GRCm39)	missense	probably damaging	0.98
R1239:Clba1	UTSW	12	112,773,123 (GRCm39)	missense	probably benign	0.15
R6123:Clba1	UTSW	12	112,774,530 (GRCm39)	missense	probably damaging	0.99
R6756:Clba1	UTSW	12	112,775,820 (GRCm39)	missense	probably damaging	0.99
R6975:Clba1	UTSW	12	112,773,217 (GRCm39)	missense	possibly damaging	0.93
R7211:Clba1	UTSW	12	112,774,632 (GRCm39)	critical splice donor site	probably null
R8912:Clba1	UTSW	12	112,779,323 (GRCm39)	missense	possibly damaging	0.59
R9337:Clba1	UTSW	12	112,775,898 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02