Mutagenetix > Incidental Mutation

Incidental Mutation 'R4775:Gpaa1'

367875

Institutional Source

Beutler Lab

Gene Symbol

Gpaa1

Ensembl Gene

ENSMUSG00000022561

Gene Name

GPI anchor attachment protein 1

Synonyms

mGAA1

MMRRC Submission

041991-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4775 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76215494-76219099 bp(+) (GRCm39)

Type of Mutation

splice site (2205 bp from exon)

DNA Base Change (assembly)

T to A at 76218891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000172281] [ENSMUST00000230512] [ENSMUST00000169378] [ENSMUST00000170121]

AlphaFold

Q9WTK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000023221
AA Change: W578R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: W578R

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	68	81	N/A	INTRINSIC
Pfam:Gaa1	125	615	3.8e-155	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000059045

SMART Domains

Protein: ENSMUSP00000050940
Gene: ENSMUSG00000034259

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	21	152	5.1e-37	PFAM
Pfam:RNase_PH_C	155	220	1.9e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000074205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164680

Predicted Effect

probably benign
Transcript: ENSMUST00000164972

SMART Domains

Protein: ENSMUSP00000127108
Gene: ENSMUSG00000022561

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165179

Predicted Effect

probably damaging
Transcript: ENSMUST00000172281
AA Change: W518R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561
AA Change: W518R

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Gaa1	64	560	3e-205	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171005

Predicted Effect

probably benign
Transcript: ENSMUST00000230512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230818

Predicted Effect

probably null
Transcript: ENSMUST00000169378

SMART Domains

Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168948

SMART Domains

Protein: ENSMUSP00000126326
Gene: ENSMUSG00000022561

Domain	Start	End	E-Value	Type
Pfam:Gaa1	1	129	1.9e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230683

Predicted Effect

probably benign
Transcript: ENSMUST00000170121

SMART Domains

Protein: ENSMUSP00000133173
Gene: ENSMUSG00000022561

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,134,165 (GRCm39)	Y426C	probably damaging	Het
Adam7	A	G	14: 68,745,361 (GRCm39)	I621T	probably benign	Het
Adamts1	A	T	16: 85,597,278 (GRCm39)	Y260*	probably null	Het
Adgrf1	C	T	17: 43,622,054 (GRCm39)	L764F	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Atp9b	A	G	18: 80,808,984 (GRCm39)		probably null	Het
C5ar2	A	C	7: 15,971,540 (GRCm39)	L129R	probably damaging	Het
Ccdc174	G	A	6: 91,867,875 (GRCm39)		probably null	Het
Cidec	T	C	6: 113,411,695 (GRCm39)	M1V	probably null	Het
Clec16a	G	T	16: 10,456,778 (GRCm39)	R663L	probably damaging	Het
Col25a1	T	C	3: 129,976,468 (GRCm39)	C118R	possibly damaging	Het
Cox6b2	A	G	7: 4,755,074 (GRCm39)	C67R	probably damaging	Het
Cspg4b	A	T	13: 113,454,229 (GRCm39)	I92F	possibly damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
Dapk1	T	A	13: 60,897,156 (GRCm39)	S792T	probably benign	Het
Dis3l	T	A	9: 64,238,190 (GRCm39)	N101Y	probably benign	Het
Dsg4	A	G	18: 20,604,184 (GRCm39)	T884A	possibly damaging	Het
Dvl1	T	C	4: 155,942,584 (GRCm39)	W617R	probably benign	Het
Eml5	A	G	12: 98,768,566 (GRCm39)	V1503A	probably benign	Het
Engase	A	T	11: 118,373,497 (GRCm39)	D280V	probably benign	Het
F11r	T	C	1: 171,289,209 (GRCm39)	S224P	probably damaging	Het
Fanca	A	G	8: 124,023,045 (GRCm39)	V564A	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gle1	T	C	2: 29,826,073 (GRCm39)	W51R	possibly damaging	Het
Gm94	A	G	18: 43,925,836 (GRCm39)		probably null	Het
Gm9830	A	T	9: 44,375,721 (GRCm39)		noncoding transcript	Het
Grin1	C	T	2: 25,182,475 (GRCm39)	A929T	possibly damaging	Het
Grm7	T	A	6: 110,891,332 (GRCm39)	D188E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,970 (GRCm39)	F395L	probably benign	Het
Lipo3	C	A	19: 33,757,795 (GRCm39)	G225C	probably damaging	Het
Lonrf2	T	A	1: 38,857,140 (GRCm39)		probably null	Het
Marveld2	A	G	13: 100,753,303 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,305,777 (GRCm39)	L416P	probably damaging	Het
Mppe1	A	G	18: 67,359,930 (GRCm39)	L312P	possibly damaging	Het
Mpzl3	T	A	9: 44,977,730 (GRCm39)	S113T	probably damaging	Het
Mylk3	G	A	8: 86,085,689 (GRCm39)	Q149*	probably null	Het
Myt1	T	A	2: 181,464,470 (GRCm39)	I968N	probably damaging	Het
Ndc80	A	G	17: 71,821,265 (GRCm39)	Y228H	probably damaging	Het
Nelfcd	T	G	2: 174,268,369 (GRCm39)	C520G	probably damaging	Het
Nfrkb	C	A	9: 31,330,345 (GRCm39)	T1199K	possibly damaging	Het
Nipa2	A	G	7: 55,585,611 (GRCm39)	I109T	probably benign	Het
Nlrp4e	A	G	7: 23,042,525 (GRCm39)	T804A	probably benign	Het
Nsf	A	T	11: 103,763,419 (GRCm39)	I395K	possibly damaging	Het
Nt5c1b	G	A	12: 10,425,449 (GRCm39)	V331I	probably damaging	Het
Or13a28	A	T	7: 140,217,829 (GRCm39)	I72F	probably damaging	Het
Or1e29	A	G	11: 73,667,377 (GRCm39)	Y259H	probably damaging	Het
Pask	T	C	1: 93,265,246 (GRCm39)	D3G	probably damaging	Het
Pglyrp3	T	C	3: 91,933,037 (GRCm39)	V110A	possibly damaging	Het
Ppp4r3a	C	T	12: 101,019,825 (GRCm39)	V377M	probably damaging	Het
Prr12	A	G	7: 44,700,749 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,135,922 (GRCm39)		probably null	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rph3a	T	A	5: 121,092,551 (GRCm39)	Y350F	probably benign	Het
Skint4	A	T	4: 111,993,261 (GRCm39)	H328L	probably damaging	Het
Smyd4	G	A	11: 75,282,018 (GRCm39)	C497Y	probably damaging	Het
Stk11ip	T	C	1: 75,510,497 (GRCm39)	W864R	possibly damaging	Het
Stkld1	T	A	2: 26,841,757 (GRCm39)	V543E	probably damaging	Het
Taok2	A	G	7: 126,469,940 (GRCm39)	S963P	probably damaging	Het
Tars2	A	G	3: 95,653,959 (GRCm39)	L354P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn2	A	G	7: 144,821,079 (GRCm39)	L325P	probably damaging	Het
Trappc3l	C	G	10: 33,974,807 (GRCm39)	H96Q	probably benign	Het
Trim66	A	T	7: 109,056,796 (GRCm39)	Y1120*	probably null	Het
Trio	G	A	15: 27,881,428 (GRCm39)	Q548*	probably null	Het
Wipf2	T	A	11: 98,781,558 (GRCm39)	D32E	probably benign	Het

Other mutations in Gpaa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Gpaa1	APN	15	76,217,198 (GRCm39)	missense	probably benign
IGL02040:Gpaa1	APN	15	76,218,495 (GRCm39)	missense	probably benign	0.17
IGL02162:Gpaa1	APN	15	76,216,353 (GRCm39)	unclassified	probably benign
IGL02430:Gpaa1	APN	15	76,216,388 (GRCm39)	missense	possibly damaging	0.93
IGL02951:Gpaa1	APN	15	76,217,019 (GRCm39)	unclassified	probably benign
PIT4466001:Gpaa1	UTSW	15	76,218,940 (GRCm39)	missense	probably benign	0.03
PIT4472001:Gpaa1	UTSW	15	76,218,940 (GRCm39)	missense	probably benign	0.03
R0137:Gpaa1	UTSW	15	76,218,981 (GRCm39)	missense	probably damaging	1.00
R0458:Gpaa1	UTSW	15	76,216,233 (GRCm39)	missense	probably benign	0.06
R0760:Gpaa1	UTSW	15	76,216,119 (GRCm39)	missense	probably benign	0.01
R1681:Gpaa1	UTSW	15	76,215,653 (GRCm39)	missense	probably benign
R1691:Gpaa1	UTSW	15	76,216,416 (GRCm39)	missense	probably damaging	0.99
R2124:Gpaa1	UTSW	15	76,217,552 (GRCm39)	missense	probably damaging	1.00
R4165:Gpaa1	UTSW	15	76,216,667 (GRCm39)	unclassified	probably benign
R4166:Gpaa1	UTSW	15	76,216,667 (GRCm39)	unclassified	probably benign
R4844:Gpaa1	UTSW	15	76,216,508 (GRCm39)	unclassified	probably benign
R5007:Gpaa1	UTSW	15	76,215,868 (GRCm39)	nonsense	probably null
R5331:Gpaa1	UTSW	15	76,216,511 (GRCm39)	unclassified	probably benign
R5804:Gpaa1	UTSW	15	76,216,826 (GRCm39)	missense	probably damaging	1.00
R5828:Gpaa1	UTSW	15	76,216,471 (GRCm39)	unclassified	probably benign
R6221:Gpaa1	UTSW	15	76,218,032 (GRCm39)	missense	probably benign	0.00
R7408:Gpaa1	UTSW	15	76,217,193 (GRCm39)	missense	probably damaging	1.00
R8255:Gpaa1	UTSW	15	76,217,438 (GRCm39)	missense	probably damaging	1.00
R8309:Gpaa1	UTSW	15	76,216,160 (GRCm39)	missense	possibly damaging	0.81
R9376:Gpaa1	UTSW	15	76,218,826 (GRCm39)	missense	possibly damaging	0.88
R9402:Gpaa1	UTSW	15	76,216,418 (GRCm39)	missense	probably benign	0.00
Z1088:Gpaa1	UTSW	15	76,216,742 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGCTGGGTTGCATTGCTCTC -3'
(R):5'- ATTTCCCAGGGAGGAGGTAG -3'

Sequencing Primer
(F):5'- TTACCGGATGGCTAGCCCTC -3'
(R):5'- TAGAACGGAGGCTTGGGG -3'

Posted On

2015-12-29