Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01813:Clba1'

154325

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: 0.058) question?

Stock #

IGL01813

Quality Score

Status

Chromosome

Chromosomal Location

112772595-112779865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112779179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 272 (T272M)

Ref Sequence

ENSEMBL: ENSMUSP00000137263 (fasta)

Gene Model

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

AlphaFold

Q8BHN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037014
AA Change: T272M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038002
Gene: ENSMUSG00000037594
AA Change: T272M

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 damaging
Transcript: ENSMUST00000177808
AA Change: T272M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137263
Gene: ENSMUSG00000037594
AA Change: T272M

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,117,936 (GRCm39)		probably benign	Het
Adgrb2	T	C	4: 129,906,359 (GRCm39)	V929A	probably benign	Het
Aldh2	T	C	5: 121,710,136 (GRCm39)	I400V	probably benign	Het
Atxn2l	T	C	7: 126,099,425 (GRCm39)	D84G	probably damaging	Het
Avpr1a	T	A	10: 122,284,916 (GRCm39)	N69K	probably damaging	Het
BC034090	G	A	1: 155,102,085 (GRCm39)	Q60*	probably null	Het
Bltp1	G	A	3: 36,982,669 (GRCm39)	S778N	possibly damaging	Het
Bub3	T	C	7: 131,170,362 (GRCm39)	S295P	probably benign	Het
Cacna1b	T	C	2: 24,499,902 (GRCm39)	S161G	probably damaging	Het
Col6a4	T	A	9: 105,954,452 (GRCm39)	S296C	probably damaging	Het
Cyp4f15	G	A	17: 32,905,131 (GRCm39)	R38H	probably benign	Het
Dync2h1	T	C	9: 7,122,799 (GRCm39)	I2052M	probably damaging	Het
Gm11627	T	C	11: 102,469,634 (GRCm39)		probably benign	Het
Jmjd8	A	T	17: 26,048,212 (GRCm39)		probably null	Het
Kmt2c	A	G	5: 25,495,802 (GRCm39)	V629A	possibly damaging	Het
Kremen1	T	C	11: 5,149,667 (GRCm39)	T335A	probably benign	Het
Oosp2	T	C	19: 11,628,847 (GRCm39)	T85A	probably benign	Het
Or12d17	A	G	17: 37,777,649 (GRCm39)	E184G	probably damaging	Het
Or8s10	A	G	15: 98,335,530 (GRCm39)	Y60C	possibly damaging	Het
Pex5l	T	C	3: 33,136,204 (GRCm39)	E5G	probably benign	Het
Pigk	A	T	3: 152,448,156 (GRCm39)	Q173L	probably damaging	Het
Pik3c2g	T	A	6: 139,599,407 (GRCm39)	N174K	possibly damaging	Het
Plb1	C	T	5: 32,486,429 (GRCm39)	H893Y	probably damaging	Het
Pus7	T	C	5: 23,965,302 (GRCm39)		probably benign	Het
R3hdm1	G	A	1: 128,102,970 (GRCm39)		probably null	Het
Samd7	C	T	3: 30,808,435 (GRCm39)	P83S	probably benign	Het
Supt5	T	A	7: 28,023,400 (GRCm39)	Y293F	probably damaging	Het
Tbc1d30	T	C	10: 121,102,956 (GRCm39)	D692G	probably benign	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Tnn	A	T	1: 159,916,008 (GRCm39)	H1236Q	probably damaging	Het
Ubr3	T	C	2: 69,781,914 (GRCm39)	I667T	probably benign	Het
Vmn1r183	T	A	7: 23,754,985 (GRCm39)	F263I	probably benign	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
IGL03090:Clba1	APN	12	112,779,340 (GRCm39)	splice site	probably null
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

2014-02-04