Mutagenetix > Incidental Mutation

Incidental Mutation 'R6975:Clba1'

542431

Institutional Source

Beutler Lab

Gene Symbol

Clba1

Ensembl Gene

ENSMUSG00000037594

Gene Name

clathrin binding box of aftiphilin containing 1

Synonyms

C130001I08Rik, BC022687, Flj20080

MMRRC Submission

045085-MU

Accession Numbers

Essential gene?

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

Stock #

R6975 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112772595-112779865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112773217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 70 (P70L)

Ref Sequence

ENSEMBL: ENSMUSP00000137263 (fasta)

Gene Model

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

AlphaFold

Q8BHN9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037014
AA Change: P70L

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038002
Gene: ENSMUSG00000037594
AA Change: P70L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177808
AA Change: P70L

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137263
Gene: ENSMUSG00000037594
AA Change: P70L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,687 (GRCm39)	H100L	probably benign	Het
Apaf1	A	T	10: 90,856,596 (GRCm39)	H870Q	probably damaging	Het
Aplf	T	C	6: 87,623,068 (GRCm39)	D358G	probably damaging	Het
Atp10a	A	T	7: 58,423,733 (GRCm39)	S233C	probably damaging	Het
Ccdc158	A	T	5: 92,814,579 (GRCm39)	Y82*	probably null	Het
Cubn	T	C	2: 13,491,600 (GRCm39)	D149G	probably damaging	Het
Cyp4f14	T	C	17: 33,133,608 (GRCm39)	T83A	probably benign	Het
Endog	A	G	2: 30,061,648 (GRCm39)		probably benign	Het
Extl3	T	C	14: 65,304,246 (GRCm39)	E721G	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	A	G	5: 115,751,518 (GRCm39)	H2033R	probably damaging	Het
Gm12830	T	C	4: 114,702,246 (GRCm39)	M136T		Het
Gm6871	T	C	7: 41,196,202 (GRCm39)		silent	Het
Hoxc4	T	C	15: 102,944,098 (GRCm39)	S159P	probably damaging	Het
Ift70a2	T	C	2: 75,806,752 (GRCm39)	R587G	probably damaging	Het
Ift70a2	A	T	2: 75,808,004 (GRCm39)	Y169*	probably null	Het
Igf2bp2	T	A	16: 21,880,611 (GRCm39)	Q494L	probably null	Het
Igfn1	T	A	1: 135,896,183 (GRCm39)	N1461I	probably damaging	Het
Il23r	C	A	6: 67,400,352 (GRCm39)	K659N	probably damaging	Het
Map3k11	A	G	19: 5,740,755 (GRCm39)	S161G	possibly damaging	Het
Naip6	T	A	13: 100,452,773 (GRCm39)	Q96L	probably damaging	Het
Nup133	T	C	8: 124,642,057 (GRCm39)	E802G	probably damaging	Het
Nutm1	G	A	2: 112,086,563 (GRCm39)	S56F	probably damaging	Het
Or10x4	T	A	1: 174,219,243 (GRCm39)	S203T	probably benign	Het
Or51a24	T	C	7: 103,734,002 (GRCm39)	N95S	probably benign	Het
Otop2	A	T	11: 115,220,152 (GRCm39)	S331C	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Pkd1l3	A	G	8: 110,387,539 (GRCm39)	R1818G	possibly damaging	Het
Pms1	A	T	1: 53,228,590 (GRCm39)	I886N	probably damaging	Het
Pnpla6	A	G	8: 3,588,068 (GRCm39)	Y1107C	probably damaging	Het
Ppp3ca	A	G	3: 136,611,062 (GRCm39)	T362A	probably damaging	Het
Rarb	A	G	14: 16,574,942 (GRCm38)	S25P	possibly damaging	Het
Rnf121	A	T	7: 101,673,218 (GRCm39)		probably null	Het
Sae1	T	C	7: 16,070,712 (GRCm39)	Y266C	probably damaging	Het
Scpep1	A	T	11: 88,838,031 (GRCm39)	F85L	probably damaging	Het
Shank1	T	A	7: 43,962,530 (GRCm39)		probably null	Het
Slc40a1	T	C	1: 45,948,652 (GRCm39)	K543E	probably benign	Het
Slc9a9	A	G	9: 94,842,499 (GRCm39)	Y350C	probably damaging	Het
Sun2	G	T	15: 79,618,420 (GRCm39)	Y246*	probably null	Het
Tas1r2	T	A	4: 139,397,031 (GRCm39)	I790N	probably damaging	Het
Tmtc2	T	C	10: 105,158,863 (GRCm39)	T577A	probably benign	Het
Trim24	T	G	6: 37,896,427 (GRCm39)		probably null	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Zbtb22	A	C	17: 34,136,938 (GRCm39)	D361A	probably damaging	Het
Zfp276	T	A	8: 123,983,570 (GRCm39)	C324*	probably null	Het
Zfp536	A	G	7: 37,267,952 (GRCm39)	L488P	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACACCAAGATGCAAGGCG -3'
(R):5'- ATACCTCTGAAGATGGGCCAG -3'

Sequencing Primer
(F):5'- CAAGATGCAAGGCGGGCAG -3'
(R):5'- AGCAGCAGTTCCTGTCAC -3'

Posted On

2018-11-28