Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03018:Pate12'

407968

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pate12

Ensembl Gene

ENSMUSG00000023093

Gene Name

prostate and testis expressed 12

Synonyms

Gm7257

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL03018

Quality Score

Status

Chromosome

Chromosomal Location

36343180-36346234 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36344723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 84 (T84A)

Ref Sequence

ENSEMBL: ENSMUSP00000048154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041537]

AlphaFold

D3YX25

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041537
AA Change: T84A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048154
Gene: ENSMUSG00000023093
AA Change: T84A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,752,451 (GRCm39)	V474E	probably damaging	Het
Cpsf6	A	T	10: 117,203,861 (GRCm39)	D30E	probably benign	Het
Dnai7	A	G	6: 145,129,031 (GRCm39)	F394S	probably damaging	Het
Edem1	T	C	6: 108,806,103 (GRCm39)	F135L	probably damaging	Het
Elf3	C	T	1: 135,183,803 (GRCm39)	E239K	possibly damaging	Het
Farp1	C	T	14: 121,339,581 (GRCm39)	A53V	probably benign	Het
Gli3	T	A	13: 15,834,717 (GRCm39)	L400Q	probably damaging	Het
Gtf2i	T	A	5: 134,318,189 (GRCm39)	I109F	possibly damaging	Het
Lat2	A	T	5: 134,631,445 (GRCm39)	I191N	probably damaging	Het
Mtf1	G	A	4: 124,732,456 (GRCm39)	A505T	probably benign	Het
Naa30	G	T	14: 49,410,697 (GRCm39)	E208D	probably benign	Het
Nlrp5	T	C	7: 23,117,172 (GRCm39)	Y299H	probably benign	Het
Npc1	T	A	18: 12,347,436 (GRCm39)	N195Y	probably damaging	Het
Or2f1	A	G	6: 42,721,748 (GRCm39)	Y259C	probably damaging	Het
Or4p21	T	C	2: 88,277,163 (GRCm39)	N40D	probably damaging	Het
Or5t16	T	G	2: 86,819,349 (GRCm39)	Y57S	probably damaging	Het
Or7g18	T	C	9: 18,787,523 (GRCm39)	M300T	probably benign	Het
Or7g19	A	T	9: 18,856,177 (GRCm39)	I78F	probably damaging	Het
Pcdh9	G	A	14: 93,253,012 (GRCm39)	A1217V	probably null	Het
Pdhb	C	T	14: 8,171,537 (GRCm38)		probably benign	Het
Pknox2	A	G	9: 36,865,993 (GRCm39)	Y75H	probably damaging	Het
Ptprn2	T	C	12: 117,175,563 (GRCm39)	S748P	probably damaging	Het
Ranbp6	A	G	19: 29,788,789 (GRCm39)	V521A	probably damaging	Het
Samd7	A	G	3: 30,816,294 (GRCm39)	K347E	probably damaging	Het
Selenom	A	G	11: 3,466,508 (GRCm39)	D63G	probably damaging	Het
Sema6d	T	C	2: 124,501,520 (GRCm39)	V487A	possibly damaging	Het
Tapt1	A	T	5: 44,361,666 (GRCm39)	M109K	probably damaging	Het
Trib1	T	C	15: 59,526,333 (GRCm39)	F301S	probably damaging	Het
Tspyl1	T	C	10: 34,159,112 (GRCm39)	V279A	probably damaging	Het
Ubr2	C	T	17: 47,264,972 (GRCm39)	V1184I	possibly damaging	Het
Urb1	T	C	16: 90,585,044 (GRCm39)	I526V	probably benign	Het
Vtcn1	A	G	3: 100,791,226 (GRCm39)	D88G	probably damaging	Het
Yod1	T	G	1: 130,646,695 (GRCm39)	L191V	probably benign	Het

Other mutations in Pate12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Pate12	APN	9	36,344,198 (GRCm39)	splice site	probably benign
IGL01799:Pate12	APN	9	36,344,179 (GRCm39)	missense	possibly damaging	0.59
IGL03178:Pate12	APN	9	36,344,132 (GRCm39)	missense	probably benign
IGL03284:Pate12	APN	9	36,344,759 (GRCm39)	missense	probably damaging	1.00
R1157:Pate12	UTSW	9	36,344,143 (GRCm39)	missense	probably benign	0.01
R2032:Pate12	UTSW	9	36,344,195 (GRCm39)	critical splice donor site	probably null
R4879:Pate12	UTSW	9	36,344,089 (GRCm39)	missense	probably damaging	1.00
R4954:Pate12	UTSW	9	36,344,156 (GRCm39)	missense	probably benign	0.28
R5019:Pate12	UTSW	9	36,343,198 (GRCm39)	missense	probably benign	0.05

Posted On

2016-08-02