Mutagenetix > Incidental Mutation

Incidental Mutation 'R1681:Gpaa1'

188548

Institutional Source

Beutler Lab

Gene Symbol

Gpaa1

Ensembl Gene

ENSMUSG00000022561

Gene Name

GPI anchor attachment protein 1

Synonyms

mGAA1

MMRRC Submission

039717-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1681 (G1)

Quality Score

129

Status

Not validated

Chromosome

Chromosomal Location

76215494-76219099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76215653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 22 (T22A)

Ref Sequence

ENSEMBL: ENSMUSP00000132986 (fasta)

Gene Model

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

AlphaFold

Q9WTK3

Predicted Effect

probably benign
Transcript: ENSMUST00000023221
AA Change: T22A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: T22A

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

unknown
Transcript: ENSMUST00000164972
AA Change: T22A

SMART Domains

Protein: ENSMUSP00000127108
Gene: ENSMUSG00000022561
AA Change: T22A

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: ENSMUST00000172281
AA Change: T22A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561
AA Change: T22A

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

noncoding transcript
Transcript: ENSMUST00000167515

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230818

Predicted Effect

probably benign
Transcript: ENSMUST00000169378

SMART Domains

Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230512

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,117,011 (GRCm39)	I247N	probably damaging	Het
Ankle1	G	T	8: 71,860,262 (GRCm39)	S260I	probably benign	Het
Aoc2	T	C	11: 101,216,018 (GRCm39)	S34P	probably benign	Het
Ap1m1	A	C	8: 73,009,966 (GRCm39)	I397L	possibly damaging	Het
Apba1	C	A	19: 23,913,925 (GRCm39)	D649E	probably damaging	Het
Aptx	C	T	4: 40,697,274 (GRCm39)	V25M	probably benign	Het
Arhgef18	G	A	8: 3,489,645 (GRCm39)	G326R	probably damaging	Het
Atm	A	C	9: 53,433,455 (GRCm39)	I265S	possibly damaging	Het
B3galt4	A	T	17: 34,170,187 (GRCm39)	V17E	probably benign	Het
Bcl7a	T	A	5: 123,494,086 (GRCm39)	M86K	possibly damaging	Het
Calhm6	A	G	10: 34,003,896 (GRCm39)	F4L	probably benign	Het
Cela3a	T	A	4: 137,129,995 (GRCm39)		probably null	Het
Cep85	T	A	4: 133,876,039 (GRCm39)	K456*	probably null	Het
Ces1f	C	A	8: 94,002,042 (GRCm39)	A29S	probably benign	Het
Chd9	A	T	8: 91,699,763 (GRCm39)	I598F	probably damaging	Het
Cntln	T	C	4: 84,865,872 (GRCm39)	L176S	probably damaging	Het
Cntn3	A	T	6: 102,147,629 (GRCm39)	N909K	probably damaging	Het
Cntnap5b	T	C	1: 100,003,832 (GRCm39)	S271P	probably damaging	Het
Col6a3	T	A	1: 90,701,224 (GRCm39)	H2564L	unknown	Het
Cyp2b19	C	A	7: 26,462,765 (GRCm39)		probably null	Het
Dapk1	G	T	13: 60,866,278 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,363,872 (GRCm39)	Y3497*	probably null	Het
Duoxa2	T	C	2: 122,129,643 (GRCm39)		probably null	Het
Eny2	T	C	15: 44,295,874 (GRCm39)	W42R	probably damaging	Het
Epha3	A	G	16: 63,416,091 (GRCm39)	V635A	probably damaging	Het
Fam167b	G	C	4: 129,472,069 (GRCm39)	Q34E	probably benign	Het
Fancm	T	C	12: 65,152,430 (GRCm39)	M962T	probably benign	Het
Gimap8	T	A	6: 48,633,345 (GRCm39)	I388N	probably benign	Het
Hoxc11	T	C	15: 102,863,591 (GRCm39)	S211P	possibly damaging	Het
Hsd17b12	T	C	2: 93,863,906 (GRCm39)	N312S	unknown	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kank1	T	C	19: 25,387,668 (GRCm39)	V447A	possibly damaging	Het
Kif1b	T	A	4: 149,279,958 (GRCm39)		probably null	Het
Klc4	A	T	17: 46,947,696 (GRCm39)	D335E	probably damaging	Het
Klhl33	T	A	14: 51,130,534 (GRCm39)	D320V	probably benign	Het
Krt73	A	T	15: 101,710,482 (GRCm39)	M84K	possibly damaging	Het
Kti12	T	A	4: 108,706,055 (GRCm39)	I323N	probably damaging	Het
Kynu	T	C	2: 43,569,837 (GRCm39)	L373P	probably damaging	Het
Lats1	T	C	10: 7,581,678 (GRCm39)	M821T	probably damaging	Het
Lnx1	A	T	5: 74,846,071 (GRCm39)	H126Q	probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc4b	T	A	7: 44,110,601 (GRCm39)	Y158N	probably damaging	Het
Lrrc74b	C	A	16: 17,377,617 (GRCm39)	R87L	probably damaging	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Mrpl38	G	A	11: 116,029,255 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,872,450 (GRCm39)	T966A	possibly damaging	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Nlrp1a	T	A	11: 71,033,184 (GRCm39)	E3D	unknown	Het
Nphs2	T	A	1: 156,148,468 (GRCm39)	D110E	probably damaging	Het
Nxn	T	A	11: 76,163,290 (GRCm39)	K244N	probably benign	Het
Oas3	A	T	5: 120,907,973 (GRCm39)	F322L	probably benign	Het
Obscn	T	A	11: 58,994,151 (GRCm39)	Y1577F	probably damaging	Het
Or10ag57	G	A	2: 87,218,964 (GRCm39)	R305K	possibly damaging	Het
Or8b47	T	A	9: 38,435,413 (GRCm39)	N128K	probably benign	Het
Or8b50	G	A	9: 38,518,244 (GRCm39)	G161D	probably damaging	Het
Or8b52	A	G	9: 38,576,616 (GRCm39)	Y175H	probably benign	Het
Or8d2	T	C	9: 38,759,809 (GRCm39)	M133T	probably damaging	Het
Panx1	T	C	9: 14,919,079 (GRCm39)	D260G	probably benign	Het
Pcdhb15	T	C	18: 37,606,866 (GRCm39)	Y33H	probably damaging	Het
Pik3ap1	C	A	19: 41,296,968 (GRCm39)	V461F	probably damaging	Het
Plpp3	G	A	4: 105,066,002 (GRCm39)		probably null	Het
Prtn3	A	T	10: 79,716,375 (GRCm39)	T61S	probably benign	Het
Psen1	T	A	12: 83,771,394 (GRCm39)	Y225N	probably damaging	Het
Rab44	T	A	17: 29,359,098 (GRCm39)	S429T	possibly damaging	Het
Ralgapa1	T	C	12: 55,809,388 (GRCm39)	I462M	probably benign	Het
Rbfox3	T	C	11: 118,396,495 (GRCm39)	N105S	probably damaging	Het
Rbm7	A	C	9: 48,401,021 (GRCm39)	Y236D	possibly damaging	Het
Samhd1	T	C	2: 156,943,652 (GRCm39)	T621A	probably benign	Het
Samt3	C	A	X: 85,090,256 (GRCm39)	D49E	probably benign	Het
Sass6	T	C	3: 116,397,122 (GRCm39)	V26A	possibly damaging	Het
Scn11a	C	T	9: 119,633,478 (GRCm39)	M418I	possibly damaging	Het
Scrib	T	C	15: 75,936,416 (GRCm39)	E480G	probably damaging	Het
Sec24a	T	G	11: 51,586,016 (GRCm39)	T1071P	probably damaging	Het
Siglecg	A	C	7: 43,058,365 (GRCm39)	E84A	probably benign	Het
Slc6a17	C	T	3: 107,381,702 (GRCm39)	V419I	probably damaging	Het
Ssr2	T	C	3: 88,488,349 (GRCm39)	M75T	possibly damaging	Het
Tbc1d22b	A	G	17: 29,794,151 (GRCm39)	T275A	possibly damaging	Het
Tbx15	T	A	3: 99,259,140 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,538,585 (GRCm39)	L353R	possibly damaging	Het
Tlr4	C	T	4: 66,759,342 (GRCm39)	P712S	probably damaging	Het
Tmem145	T	A	7: 25,014,159 (GRCm39)	F424L	possibly damaging	Het
Tnrc18	T	C	5: 142,759,572 (GRCm39)	K755E	unknown	Het
Trmt44	A	G	5: 35,727,321 (GRCm39)	I298T	probably benign	Het
Vmn1r69	A	G	7: 10,314,179 (GRCm39)	V184A	probably benign	Het
Zfp84	T	C	7: 29,476,825 (GRCm39)	C506R	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
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
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'- CCAGCCTACCTCAGTTTTGAGCAC -3'
(R):5'- TGGTCCAAGCCATTAAGAACCCG -3'

Sequencing Primer
(F):5'- AGTTTTGAGCACGCGCAG -3'
(R):5'- cagcattcagggggcag -3'

Posted On

2014-05-09