Mutagenetix > Incidental Mutation

Incidental Mutation 'R3719:Cypt14-ps'

258837

Institutional Source

Beutler Lab

Gene Symbol

Cypt14-ps

Ensembl Gene

ENSMUSG00000095240

Gene Name

cysteine-rich perinuclear theca 14, pseudogene

Synonyms

Cypt14

MMRRC Submission

042001-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.017) question?

Stock #

R3719 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

38951796-38952481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38952128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 52 (G52E)

Ref Sequence

ENSEMBL: ENSMUSP00000137274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179096]

AlphaFold

J3QPF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000179096
AA Change: G52E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	A	15: 94,259,719 (GRCm39)	R327C	probably damaging	Het
Atxn2l	G	A	7: 126,097,302 (GRCm39)	R335W	probably damaging	Het
Blk	A	G	14: 63,621,451 (GRCm39)	S93P	probably damaging	Het
Cdk11b	A	G	4: 155,711,343 (GRCm39)	D75G	probably damaging	Het
Chpf2	C	T	5: 24,795,310 (GRCm39)	Q278*	probably null	Het
Defb18	A	G	1: 18,306,813 (GRCm39)	S48P	possibly damaging	Het
Dync2h1	A	G	9: 7,006,882 (GRCm39)		probably benign	Het
Ero1b	T	G	13: 12,598,493 (GRCm39)		probably null	Het
Gcn1	T	C	5: 115,717,876 (GRCm39)	S254P	probably benign	Het
Hivep1	T	C	13: 42,311,203 (GRCm39)	S1148P	probably benign	Het
Kdm3b	C	T	18: 34,941,724 (GRCm39)	A405V	probably damaging	Het
Mcm7	G	A	5: 138,164,976 (GRCm39)	Q550*	probably null	Het
Or9m1	G	A	2: 87,733,447 (GRCm39)	T191I	probably benign	Het
Pcdh7	A	G	5: 58,286,374 (GRCm39)	E1150G	probably damaging	Het
Pcdhac2	A	G	18: 37,279,288 (GRCm39)	Y756C	possibly damaging	Het
Pclo	A	G	5: 14,571,175 (GRCm39)	T187A	probably benign	Het
Rbms3	C	T	9: 116,411,930 (GRCm39)	V421I	probably benign	Het
Selenbp2	T	C	3: 94,606,924 (GRCm39)	F190S	probably damaging	Het
Sema6a	G	A	18: 47,382,144 (GRCm39)	T801M	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Spen	G	T	4: 141,244,494 (GRCm39)	H180Q	unknown	Het
Tenm4	A	G	7: 96,512,770 (GRCm39)	K1339R	possibly damaging	Het
Trim30a	C	A	7: 104,060,370 (GRCm39)	D469Y	probably benign	Het
Trpm3	G	A	19: 22,964,354 (GRCm39)	R1283H	possibly damaging	Het
Trpm6	A	T	19: 18,749,757 (GRCm39)	R29*	probably null	Het
Ttc17	A	G	2: 94,194,672 (GRCm39)	V567A	probably benign	Het
Vmn2r101	A	G	17: 19,809,811 (GRCm39)	Y199C	possibly damaging	Het
Vmn2r73	A	T	7: 85,519,582 (GRCm39)	Y459N	probably damaging	Het
Vmn2r79	A	G	7: 86,651,245 (GRCm39)	I215V	probably benign	Het
Wdr48	C	T	9: 119,736,197 (GRCm39)	S162F	probably damaging	Het

Other mutations in Cypt14-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Z1176:Cypt14-ps	UTSW	X	38,952,432 (GRCm39)	missense	possibly damaging	0.66
Z1177:Cypt14-ps	UTSW	X	38,952,435 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGTCTTTGAACCCACGTAGG -3'
(R):5'- CCCAAGCTAAGCTCATTGTTCAG -3'

Sequencing Primer
(F):5'- CATGGAGCTAGCCAGGTATTC -3'
(R):5'- AGCTCATTGTTCAGCTTCTGTG -3'

Posted On

2015-01-23