Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01869:Gpaa1'

178661

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpaa1

Ensembl Gene

ENSMUSG00000022561

Gene Name

GPI anchor attachment protein 1

Synonyms

mGAA1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01869

Quality Score

Status

Chromosome

Chromosomal Location

76215494-76219099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76217198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 178 (T178A)

Ref Sequence

ENSEMBL: ENSMUSP00000132986 (fasta)

Gene Model

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

AlphaFold

Q9WTK3

Predicted Effect

probably benign
Transcript: ENSMUST00000023221
AA Change: T238A

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

SMART Domains

Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: T238A

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: 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 benign
Transcript: ENSMUST00000172281
AA Change: T178A

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

SMART Domains

Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561
AA Change: T178A

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

noncoding transcript
Transcript: ENSMUST00000167515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171005

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: 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

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: ENSMUST00000230512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230683

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700026F02Rik	A	G	8: 71,495,689 (GRCm39)		noncoding transcript	Het
Adam29	T	C	8: 56,324,732 (GRCm39)	H574R	probably damaging	Het
Arap1	C	A	7: 101,049,490 (GRCm39)	T984K	probably damaging	Het
Ccdc146	A	T	5: 21,521,837 (GRCm39)	S396T	probably benign	Het
Col6a3	T	C	1: 90,700,770 (GRCm39)	K2587E	unknown	Het
Cyp3a44	A	G	5: 145,727,496 (GRCm39)	S278P	probably damaging	Het
Daw1	T	G	1: 83,159,965 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,943,502 (GRCm39)	K3200R	probably benign	Het
Efhd2	A	G	4: 141,601,913 (GRCm39)	F89S	probably damaging	Het
Fras1	A	G	5: 96,856,642 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,979 (GRCm39)	D68G	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm3604	A	T	13: 62,517,954 (GRCm39)	C134S	probably damaging	Het
Lama3	A	G	18: 12,657,820 (GRCm39)	N312S	possibly damaging	Het
Npepps	T	C	11: 97,126,948 (GRCm39)	I437M	probably damaging	Het
Or10q12	A	G	19: 13,746,534 (GRCm39)	D276G	probably benign	Het
Or11i1	C	T	3: 106,729,342 (GRCm39)	D178N	probably benign	Het
Rcor1	C	A	12: 111,070,193 (GRCm39)	T330K	possibly damaging	Het
Sbno2	A	G	10: 79,896,226 (GRCm39)		probably null	Het
Sema3g	A	G	14: 30,945,624 (GRCm39)	E478G	probably damaging	Het
Smg9	A	G	7: 24,115,949 (GRCm39)	D280G	probably damaging	Het
Smtnl1	A	T	2: 84,641,741 (GRCm39)	*460R	probably null	Het
Syde1	A	G	10: 78,424,753 (GRCm39)	C360R	possibly damaging	Het
Szt2	A	G	4: 118,256,268 (GRCm39)	V197A	possibly damaging	Het
Tnrc6c	T	C	11: 117,646,274 (GRCm39)	V1405A	possibly damaging	Het
Ttbk1	A	G	17: 46,757,989 (GRCm39)	S882P	probably damaging	Het
Tubgcp4	T	A	2: 121,006,269 (GRCm39)	H116Q	possibly damaging	Het
Vmn1r192	T	A	13: 22,371,750 (GRCm39)	N157Y	probably damaging	Het
Vmn1r60	C	T	7: 5,547,228 (GRCm39)	V291M	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo5	C	T	17: 46,553,133 (GRCm39)	P1184L	possibly damaging	Het
Zfp946	T	G	17: 22,673,684 (GRCm39)	I146S	probably benign	Het

Other mutations in Gpaa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07