Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01064:Pgap4'

50837

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgap4

Ensembl Gene

ENSMUSG00000039611

Gene Name

post-GPI attachment to proteins GalNAc transferase 4

Synonyms

2810432L12Rik, Tmem246, 9330170P15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL01064

Quality Score

Status

Chromosome

Chromosomal Location

49584506-49597876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49586860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 103 (V103M)

Ref Sequence

ENSEMBL: ENSMUSP00000115100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042750] [ENSMUST00000150664] [ENSMUST00000151542]

AlphaFold

Q91YV9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042750
AA Change: V103M

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040885
Gene: ENSMUSG00000039611
AA Change: V103M

Domain	Start	End	E-Value	Type
low complexity region	11	18	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	262	280	N/A	INTRINSIC
transmembrane domain	287	309	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150664
AA Change: V103M

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115100
Gene: ENSMUSG00000039611
AA Change: V103M

Domain	Start	End	E-Value	Type
low complexity region	11	18	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151542

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,433,855 (GRCm39)	T4137S	probably benign	Het
Abcb1a	T	C	5: 8,782,388 (GRCm39)	Y924H	possibly damaging	Het
Ash1l	T	G	3: 88,979,791 (GRCm39)	C2772G	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cpne6	T	C	14: 55,750,187 (GRCm39)	F106S	probably damaging	Het
Cysltr1	A	T	X: 105,622,342 (GRCm39)	I48N	probably damaging	Het
Dsg1a	A	T	18: 20,473,263 (GRCm39)	I779F	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,779 (GRCm39)	L262H	probably damaging	Het
Gart	G	A	16: 91,419,895 (GRCm39)	R871C	probably damaging	Het
Get4	C	T	5: 139,238,277 (GRCm39)	R20C	probably damaging	Het
Gm13030	G	A	4: 138,600,869 (GRCm39)		probably benign	Het
Gm17654	A	T	14: 43,816,455 (GRCm39)	H49Q	unknown	Het
Gpnmb	A	G	6: 49,032,593 (GRCm39)	I506V	probably benign	Het
Ist1	T	C	8: 110,409,243 (GRCm39)	I86V	probably damaging	Het
Kcnip1	C	T	11: 33,583,192 (GRCm39)	D198N	probably damaging	Het
Kif5c	A	G	2: 49,584,828 (GRCm39)	I184V	possibly damaging	Het
Mink1	A	T	11: 70,494,307 (GRCm39)	M236L	probably benign	Het
Muc5ac	A	T	7: 141,361,210 (GRCm39)	N1507I	probably benign	Het
Nrxn2	G	T	19: 6,567,083 (GRCm39)	E1326D	probably damaging	Het
Or10ak8	A	T	4: 118,774,091 (GRCm39)	M191K	possibly damaging	Het
Or51q1	A	T	7: 103,628,999 (GRCm39)	Y200F	probably benign	Het
Or5b3	T	C	19: 13,388,590 (GRCm39)	I219T	probably benign	Het
Patj	T	C	4: 98,385,210 (GRCm39)	S326P	possibly damaging	Het
Pdha2	T	C	3: 140,916,776 (GRCm39)	H244R	possibly damaging	Het
Pkhd1	C	T	1: 20,604,754 (GRCm39)		probably benign	Het
Ptk7	A	T	17: 46,884,492 (GRCm39)	L746*	probably null	Het
Rad54b	G	A	4: 11,604,866 (GRCm39)	G438D	probably damaging	Het
Rbm27	T	C	18: 42,452,879 (GRCm39)	V536A	possibly damaging	Het
Rundc3b	T	A	5: 8,619,553 (GRCm39)	M135L	probably damaging	Het
Sorcs2	T	C	5: 36,222,696 (GRCm39)	Y353C	probably damaging	Het
Srcap	T	C	7: 127,159,064 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,771,834 (GRCm39)	H66R	probably benign	Het
Tlr7	T	A	X: 166,091,207 (GRCm39)	E93V	probably damaging	Het
Tmem156	A	G	5: 65,237,327 (GRCm39)	L76S	probably damaging	Het
Tomm70a	T	C	16: 56,972,975 (GRCm39)	F571S	probably damaging	Het
Trmt10b	A	G	4: 45,314,347 (GRCm39)	Y261C	possibly damaging	Het

Other mutations in Pgap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02210:Pgap4	APN	4	49,586,686 (GRCm39)	missense	probably benign
IGL03239:Pgap4	APN	4	49,586,034 (GRCm39)	missense	probably damaging	0.99
R0344:Pgap4	UTSW	4	49,586,566 (GRCm39)	missense	probably benign
R1134:Pgap4	UTSW	4	49,586,832 (GRCm39)	missense	probably benign
R1392:Pgap4	UTSW	4	49,586,919 (GRCm39)	missense	probably damaging	1.00
R1392:Pgap4	UTSW	4	49,586,919 (GRCm39)	missense	probably damaging	1.00
R2247:Pgap4	UTSW	4	49,586,209 (GRCm39)	missense	probably benign	0.05
R2288:Pgap4	UTSW	4	49,586,445 (GRCm39)	missense	probably damaging	1.00
R4630:Pgap4	UTSW	4	49,586,254 (GRCm39)	missense	probably benign	0.40
R5530:Pgap4	UTSW	4	49,586,226 (GRCm39)	missense	probably benign	0.04
R5939:Pgap4	UTSW	4	49,586,412 (GRCm39)	missense	probably damaging	0.98
R5955:Pgap4	UTSW	4	49,586,613 (GRCm39)	missense	probably damaging	1.00
R7009:Pgap4	UTSW	4	49,586,325 (GRCm39)	missense	probably benign
R7837:Pgap4	UTSW	4	49,586,262 (GRCm39)	missense	probably damaging	0.96
R8792:Pgap4	UTSW	4	49,587,067 (GRCm39)	missense	possibly damaging	0.86
R9120:Pgap4	UTSW	4	49,587,093 (GRCm39)	missense	probably benign	0.00
R9409:Pgap4	UTSW	4	49,586,043 (GRCm39)	missense	probably damaging	1.00
R9781:Pgap4	UTSW	4	49,586,890 (GRCm39)	missense	probably benign	0.09
Z1088:Pgap4	UTSW	4	49,587,135 (GRCm39)	missense	probably damaging	0.97
Z1177:Pgap4	UTSW	4	49,586,872 (GRCm39)	missense	possibly damaging	0.77

Posted On

2013-06-21