Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Gpaa1'

41335

Institutional Source

Beutler Lab

Gene Symbol

Gpaa1

Ensembl Gene

ENSMUSG00000022561

Gene Name

GPI anchor attachment protein 1

Synonyms

mGAA1

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76215494-76219099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76216233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 12 (R12L)

Ref Sequence

ENSEMBL: ENSMUSP00000133173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000165279] [ENSMUST00000170121] [ENSMUST00000169378] [ENSMUST00000172281] [ENSMUST00000230512]

AlphaFold

Q9WTK3

Predicted Effect

probably benign
Transcript: ENSMUST00000023221
AA Change: R71L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: R71L

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 benign
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: 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 benign
Transcript: ENSMUST00000165279

SMART Domains

Protein: ENSMUSP00000127955
Gene: ENSMUSG00000022562

Domain	Start	End	E-Value	Type
Pfam:Hydant_A_N	9	53	8.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170121
AA Change: R12L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133173
Gene: ENSMUSG00000022561
AA Change: R12L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169378
AA Change: R22L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561
AA Change: R22L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167515

Predicted Effect

probably benign
Transcript: ENSMUST00000172281

SMART Domains

Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561

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: ENSMUST00000168948

SMART Domains

Protein: ENSMUSP00000126326
Gene: ENSMUSG00000022561

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230818

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	A	G	1: 85,856,747 (GRCm39)	E8G	unknown	Het
9130008F23Rik	T	C	17: 41,191,127 (GRCm39)	T101A	probably benign	Het
Abcb8	C	T	5: 24,611,231 (GRCm39)	T455I	probably benign	Het
Abcb9	C	A	5: 124,220,209 (GRCm39)		probably null	Het
Akp3	T	G	1: 87,054,259 (GRCm39)	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,729,390 (GRCm39)	D109V	probably damaging	Het
Aurka	C	A	2: 172,212,366 (GRCm39)	E4*	probably null	Het
Cacna1g	T	A	11: 94,300,266 (GRCm39)	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,600,722 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,850,837 (GRCm39)	V325A	probably benign	Het
Clasp2	T	A	9: 113,735,292 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,620,655 (GRCm39)	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,001,610 (GRCm39)	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,147,633 (GRCm39)	V399A	possibly damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,502,513 (GRCm39)	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,197,104 (GRCm39)		probably benign	Het
Epn2	C	A	11: 61,437,281 (GRCm39)	R97L	possibly damaging	Het
Fam243	T	C	16: 92,117,995 (GRCm39)	I98V	probably benign	Het
Fzd6	G	A	15: 38,894,676 (GRCm39)	A281T	probably damaging	Het
Garem2	T	A	5: 30,319,180 (GRCm39)	I214N	probably damaging	Het
Glg1	A	G	8: 111,887,238 (GRCm39)		probably benign	Het
Golm1	T	C	13: 59,812,178 (GRCm39)	E48G	probably damaging	Het
Gstm1	T	A	3: 107,924,679 (GRCm39)	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,383,663 (GRCm39)	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icam1	A	G	9: 20,939,157 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,510,096 (GRCm39)		probably null	Het
Kif15	T	C	9: 122,838,424 (GRCm39)	F1121L	probably benign	Het
Klhl30	T	A	1: 91,288,718 (GRCm39)		probably benign	Het
Ldlrad1	T	C	4: 107,073,387 (GRCm39)	C141R	probably damaging	Het
Lemd2	T	C	17: 27,409,627 (GRCm39)	D508G	probably damaging	Het
Lilra5	A	C	7: 4,241,218 (GRCm39)	T52P	probably benign	Het
Lrtm2	G	A	6: 119,294,229 (GRCm39)	P301S	probably damaging	Het
Mcoln2	A	G	3: 145,855,768 (GRCm39)		probably benign	Het
Mkrn2os	A	G	6: 115,563,631 (GRCm39)	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,162,224 (GRCm39)	V607A	probably benign	Het
Mmadhc	T	C	2: 50,171,173 (GRCm39)	Y213C	probably benign	Het
Mpo	C	A	11: 87,687,123 (GRCm39)	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,168,036 (GRCm39)	I310M	probably damaging	Het
Muc5b	C	A	7: 141,418,709 (GRCm39)	A3885D	probably benign	Het
Mvp	A	G	7: 126,597,663 (GRCm39)	W152R	probably damaging	Het
Nmur2	A	T	11: 55,931,394 (GRCm39)	F106I	possibly damaging	Het
Nr3c2	T	A	8: 77,636,167 (GRCm39)	F423I	probably damaging	Het
Or1l8	A	G	2: 36,817,349 (GRCm39)	V259A	probably damaging	Het
Or5m5	A	G	2: 85,814,600 (GRCm39)	S139G	probably benign	Het
Or8c16	G	A	9: 38,130,344 (GRCm39)	C75Y	probably damaging	Het
Or9q1	G	T	19: 13,805,593 (GRCm39)	H56N	probably benign	Het
Pappa	A	G	4: 65,074,119 (GRCm39)	I224M	probably damaging	Het
Prex1	A	C	2: 166,427,743 (GRCm39)	S800A	probably damaging	Het
Prkaca	T	C	8: 84,721,911 (GRCm39)		probably benign	Het
Ptpru	A	T	4: 131,526,986 (GRCm39)	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,777,824 (GRCm39)		probably null	Het
Rbms2	C	T	10: 127,987,058 (GRCm39)	C50Y	probably damaging	Het
Rd3	C	T	1: 191,709,414 (GRCm39)	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,256 (GRCm39)	I247L	probably benign	Het
Sf3b3	A	G	8: 111,538,768 (GRCm39)		probably benign	Het
Slc35c1	A	T	2: 92,284,858 (GRCm39)	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,193,813 (GRCm39)		probably null	Het
Snx6	G	T	12: 54,814,921 (GRCm39)	Y17*	probably null	Het
Sox6	C	A	7: 115,089,029 (GRCm39)	R611L	probably damaging	Het
Spata13	G	A	14: 60,929,492 (GRCm39)	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,746,879 (GRCm39)	A483D	probably damaging	Het
Stat1	C	T	1: 52,188,211 (GRCm39)		probably benign	Het
Tab2	A	T	10: 7,795,319 (GRCm39)	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 155,906,153 (GRCm39)	N213S	probably damaging	Het
Trim39	T	C	17: 36,572,404 (GRCm39)	K300E	probably damaging	Het
Tubal3	T	C	13: 3,983,137 (GRCm39)	S306P	probably damaging	Het
Ufm1	A	G	3: 53,768,655 (GRCm39)	L33P	probably damaging	Het
Washc4	G	A	10: 83,382,663 (GRCm39)	V26I	possibly damaging	Het
Wfs1	A	G	5: 37,126,013 (GRCm39)	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,351,214 (GRCm39)	V109A	probably damaging	Het
Zfp667	T	C	7: 6,307,844 (GRCm39)	S171P	probably benign	Het
Zkscan5	T	A	5: 145,142,281 (GRCm39)	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,768,965 (GRCm39)	R1128W	probably damaging	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
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
R4775:Gpaa1	UTSW	15	76,218,891 (GRCm39)	splice site	probably null
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'- TTAATGGCTTGGACCATCCCGC -3'
(R):5'- AGACCATCCCTCCCAGAGTTTCTTG -3'

Sequencing Primer
(F):5'- GTTCCAGGTCGGGCTAATTCC -3'
(R):5'- GTTTCAGGGCACTTCAACAAG -3'

Posted On

2013-05-23