Mutagenetix > Incidental Mutation

Incidental Mutation 'R1113:Pate6'

96942

Institutional Source

Beutler Lab

Gene Symbol

Pate6

Ensembl Gene

ENSMUSG00000032108

Gene Name

prostate and testis expressed 6

Synonyms

mANLP2, Pate-A, 9230110F15Rik, Pate-C, D730048I06Rik, Anlp3

MMRRC Submission

039186-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35699346-35701408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35700385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 67 (T67A)

Ref Sequence

ENSEMBL: ENSMUSP00000034619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034619] [ENSMUST00000184431]

AlphaFold

Q9CQB8

Predicted Effect

probably benign
Transcript: ENSMUST00000034619
AA Change: T67A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034619
Gene: ENSMUSG00000032108
AA Change: T67A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184431

SMART Domains

Protein: ENSMUSP00000139380
Gene: ENSMUSG00000098847

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	64	81	N/A	INTRINSIC

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 93.0%
20x: 82.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,982,984 (GRCm39)	E1423K	probably benign	Het
Angpt2	C	T	8: 18,742,134 (GRCm39)	W474*	probably null	Het
Cln6	A	G	9: 62,758,143 (GRCm39)	T301A	probably damaging	Het
G6pc2	A	T	2: 69,050,570 (GRCm39)	D65V	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Map3k6	T	C	4: 132,973,126 (GRCm39)	S395P	probably damaging	Het
Myo6	G	A	9: 80,152,996 (GRCm39)	V210I	probably damaging	Het
Otoa	C	A	7: 120,724,666 (GRCm39)	C448*	probably null	Het
Prkcg	G	C	7: 3,377,622 (GRCm39)	K525N	probably damaging	Het
Pros1	G	A	16: 62,734,228 (GRCm39)	D345N	probably damaging	Het
Prss47	T	C	13: 65,199,630 (GRCm39)	H83R	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Tekt2	A	T	4: 126,218,711 (GRCm39)	L14H	probably damaging	Het
Tnpo2	T	C	8: 85,781,982 (GRCm39)	F857S	probably damaging	Het
Try4	G	T	6: 41,282,308 (GRCm39)	Q209H	possibly damaging	Het
Wdfy4	G	A	14: 32,693,695 (GRCm39)	S2710L	possibly damaging	Het

Other mutations in Pate6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1308:Pate6	UTSW	9	35,700,385 (GRCm39)	missense	probably benign	0.03
R1971:Pate6	UTSW	9	35,700,309 (GRCm39)	missense	probably benign	0.00
R2132:Pate6	UTSW	9	35,701,039 (GRCm39)	splice site	probably benign
R4700:Pate6	UTSW	9	35,701,021 (GRCm39)	missense	probably damaging	0.98
R5809:Pate6	UTSW	9	35,700,297 (GRCm39)	missense	probably damaging	0.99
R6662:Pate6	UTSW	9	35,701,296 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GTCCCCAGGTTCTATGACTTGCAC -3'
(R):5'- CCTTCAGGATTCCAAGCACCATCTC -3'

Sequencing Primer
(F):5'- AAGTCAATGAAAGAAAATGGAGAATG -3'
(R):5'- TCATGGCTAAGTGCCTGC -3'

Posted On

2014-01-05