Mutagenetix > Incidental Mutation

Incidental Mutation 'R2247:Pgap4'

240890

Institutional Source

Beutler Lab

Gene Symbol

Pgap4

Ensembl Gene

ENSMUSG00000039611

Gene Name

post-GPI attachment to proteins GalNAc transferase 4

Synonyms

2810432L12Rik, Tmem246, 9330170P15Rik

MMRRC Submission

040247-MU

Accession Numbers

Essential gene?

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

Stock #

R2247 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49584506-49597876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49586209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 320 (S320G)

Ref Sequence

ENSEMBL: ENSMUSP00000040885 (fasta)

Gene Model

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

AlphaFold

Q91YV9

Predicted Effect

probably benign
Transcript: ENSMUST00000042750
AA Change: S320G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000040885
Gene: ENSMUSG00000039611
AA Change: S320G

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

probably benign
Transcript: ENSMUST00000150664

SMART Domains

Protein: ENSMUSP00000115100
Gene: ENSMUSG00000039611

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,184,435 (GRCm39)	E70G	possibly damaging	Het
Ash1l	C	A	3: 88,914,674 (GRCm39)	P1768Q	possibly damaging	Het
Bicra	C	A	7: 15,723,159 (GRCm39)	E119D	probably benign	Het
Brd2	A	G	17: 34,333,389 (GRCm39)	F421L	probably damaging	Het
Cspp1	A	T	1: 10,136,685 (GRCm39)	Q182L	possibly damaging	Het
Dnah7b	A	G	1: 46,316,223 (GRCm39)	D3112G	probably damaging	Het
Dsc2	T	A	18: 20,168,369 (GRCm39)	I697F	probably damaging	Het
Ephb1	A	T	9: 101,874,010 (GRCm39)	S555T	probably damaging	Het
Fat4	A	T	3: 38,946,198 (GRCm39)	D1697V	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Impg2	A	G	16: 56,088,627 (GRCm39)	K1160R	probably damaging	Het
Jak2	T	C	19: 29,261,036 (GRCm39)	V344A	probably benign	Het
Kcnab3	A	G	11: 69,221,016 (GRCm39)	T168A	probably damaging	Het
Kctd18	A	T	1: 58,006,801 (GRCm39)	H16Q	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh11	A	G	16: 14,095,423 (GRCm39)	L113P	probably damaging	Het
Myh13	A	T	11: 67,225,384 (GRCm39)	I250F	probably damaging	Het
Nin	T	C	12: 70,101,319 (GRCm39)	Y426C	probably damaging	Het
Or10ab4	C	T	7: 107,654,989 (GRCm39)	R267C	probably benign	Het
Or51ab3	T	A	7: 103,201,097 (GRCm39)		probably null	Het
Pbrm1	A	G	14: 30,796,850 (GRCm39)	H897R	probably damaging	Het
Plcl2	T	C	17: 50,913,873 (GRCm39)	V294A	probably damaging	Het
Psapl1	A	G	5: 36,362,410 (GRCm39)	E334G	probably benign	Het
Pwwp3a	A	G	10: 80,076,259 (GRCm39)	Y483C	probably damaging	Het
Raly	A	G	2: 154,705,953 (GRCm39)	H277R	possibly damaging	Het
Ranbp9	T	C	13: 43,565,901 (GRCm39)	K462E	probably damaging	Het
Rptn	A	G	3: 93,304,136 (GRCm39)	T490A	probably benign	Het
Rtl1	T	C	12: 109,561,413 (GRCm39)	H142R	possibly damaging	Het
Scart2	G	A	7: 139,829,042 (GRCm39)	G234S	probably null	Het
Shisa3	G	A	5: 67,768,666 (GRCm39)	V189M	probably benign	Het
Slc25a36	A	T	9: 96,982,191 (GRCm39)	L28Q	probably damaging	Het
Slc38a8	A	G	8: 120,212,389 (GRCm39)	M318T	probably benign	Het
Slc4a11	A	T	2: 130,529,721 (GRCm39)	M328K	probably benign	Het
Sp2	A	C	11: 96,852,844 (GRCm39)		probably null	Het
Sult2b1	A	T	7: 45,384,734 (GRCm39)	I114N	probably damaging	Het
Synrg	T	C	11: 83,900,202 (GRCm39)	S803P	probably damaging	Het
Tenm4	T	A	7: 96,555,216 (GRCm39)	D2603E	probably benign	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,179,912 (GRCm39)		probably null	Het
Zfp189	T	A	4: 49,530,393 (GRCm39)	C499S	possibly damaging	Het
Zfp236	A	G	18: 82,622,423 (GRCm39)	F1621S	possibly damaging	Het

Other mutations in Pgap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Pgap4	APN	4	49,586,860 (GRCm39)	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCACAAGGTTGGGCTCCAC -3'
(R):5'- GAGAGGCTACAGCACTACATC -3'

Sequencing Primer
(F):5'- AAGGTTGGGCTCCACCACATAG -3'
(R):5'- CCTATGCGGATCCTGGAGTG -3'

Posted On

2014-10-15