Mutagenetix > Incidental Mutation

Incidental Mutation 'R3759:Ct45a'

270490

Institutional Source

Beutler Lab

Gene Symbol

Ct45a

Ensembl Gene

ENSMUSG00000064016

Gene Name

cancer/testis antigen 45

Synonyms

LOC270599, Gm648

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3759 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

55589234-55594966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55590568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 78 (V78I)

Ref Sequence

ENSEMBL: ENSMUSP00000079908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081133]

AlphaFold

Q3UJ22

Predicted Effect

probably benign
Transcript: ENSMUST00000081133
AA Change: V78I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079908
Gene: ENSMUSG00000064016
AA Change: V78I

Domain	Start	End	E-Value	Type
Pfam:INT_SG_DDX_CT_C	136	198	4.9e-31	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Barx1	G	C	13: 48,818,649 (GRCm39)	R124P	probably damaging	Het
Capn13	T	A	17: 73,629,072 (GRCm39)	R578S	probably benign	Het
Erc2	A	G	14: 27,747,120 (GRCm39)	Q684R	possibly damaging	Het
Grm4	G	A	17: 27,654,273 (GRCm39)	T559I	probably benign	Het
Heatr5b	G	T	17: 79,131,969 (GRCm39)	A378D	possibly damaging	Het
Ppfia1	A	G	7: 144,069,739 (GRCm39)	V398A	probably benign	Het
Ppip5k2	C	T	1: 97,683,610 (GRCm39)		probably null	Het
Pramel23	C	A	4: 143,423,721 (GRCm39)	C356F	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Tbc1d8	T	C	1: 39,415,546 (GRCm39)	N913S	probably damaging	Het

Other mutations in Ct45a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02889:Ct45a	APN	X	55,592,551 (GRCm39)	missense	probably damaging	1.00
R0626:Ct45a	UTSW	X	55,590,399 (GRCm39)	missense	probably benign	0.00
R3760:Ct45a	UTSW	X	55,590,568 (GRCm39)	missense	probably benign
R3761:Ct45a	UTSW	X	55,590,568 (GRCm39)	missense	probably benign
R3763:Ct45a	UTSW	X	55,590,568 (GRCm39)	missense	probably benign
R4212:Ct45a	UTSW	X	55,590,568 (GRCm39)	missense	probably benign
R4213:Ct45a	UTSW	X	55,590,568 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTACGTCGTCCAAAGCGTCG -3'
(R):5'- AGAGCTCAGCCTTGTCACAG -3'

Sequencing Primer
(F):5'- CAAAGCGTCGGATTTCTGTCATCAG -3'
(R):5'- AGCCTTGTCACAGCTCAGC -3'

Posted On

2015-03-18