Mutagenetix > Incidental Mutation

Incidental Mutation 'R9376:Gpaa1'

709646

Institutional Source

Beutler Lab

Gene Symbol

Gpaa1

Ensembl Gene

ENSMUSG00000022561

Gene Name

GPI anchor attachment protein 1

Synonyms

mGAA1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76215494-76219099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76218826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 556 (T556K)

Ref Sequence

ENSEMBL: ENSMUSP00000023221 (fasta)

Gene Model

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

AlphaFold

Q9WTK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023221
AA Change: T556K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: T556K

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

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

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: ENSMUST00000170121

SMART Domains

Protein: ENSMUSP00000133173
Gene: ENSMUSG00000022561

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172281
AA Change: T496K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561
AA Change: T496K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230512

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,893,438 (GRCm39)	L1296H	probably damaging	Het
Abcb4	A	T	5: 9,008,988 (GRCm39)	D1215V	probably damaging	Het
Ache	A	C	5: 137,289,025 (GRCm39)	I244L	probably benign	Het
Ankrd13d	A	T	19: 4,332,250 (GRCm39)	V58D	probably damaging	Het
Ano3	A	G	2: 110,496,782 (GRCm39)	L789S	probably damaging	Het
Atp2a3	T	C	11: 72,863,290 (GRCm39)	V129A	probably damaging	Het
Cldn11	T	C	3: 31,217,410 (GRCm39)	S193P	possibly damaging	Het
Clpb	A	T	7: 101,360,625 (GRCm39)	R218S	probably benign	Het
Cntln	A	G	4: 84,875,258 (GRCm39)	S231G	probably benign	Het
Cntn4	T	C	6: 106,639,591 (GRCm39)	Y574H	probably damaging	Het
Col6a3	C	T	1: 90,709,523 (GRCm39)	R2498H	unknown	Het
Ctdnep1	T	C	11: 69,875,594 (GRCm39)	V108A	probably damaging	Het
Cyp2c67	A	T	19: 39,627,178 (GRCm39)	N217K	probably damaging	Het
Dao	T	A	5: 114,147,901 (GRCm39)	M1K	probably null	Het
Dchs1	A	G	7: 105,414,981 (GRCm39)		probably null	Het
Dennd4a	A	T	9: 64,819,974 (GRCm39)	I1809L	probably benign	Het
Dnah7a	T	A	1: 53,568,058 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,086,720 (GRCm39)		probably benign	Het
Erich1	A	G	8: 14,080,719 (GRCm39)	S267P	probably damaging	Het
Gm17732	G	T	18: 62,795,936 (GRCm39)	V41L	probably damaging	Het
Gpr65	T	A	12: 98,241,523 (GRCm39)	S59T	probably damaging	Het
Hydin	T	C	8: 111,124,695 (GRCm39)	V568A	possibly damaging	Het
Ifi205	T	C	1: 173,854,221 (GRCm39)	D144G	probably benign	Het
Itga1	T	C	13: 115,107,112 (GRCm39)	H993R	probably benign	Het
Itgax	T	C	7: 127,747,935 (GRCm39)	L1075P	possibly damaging	Het
Itpr1	T	A	6: 108,326,638 (GRCm39)	V120E	probably damaging	Het
Kdm3b	T	C	18: 34,970,718 (GRCm39)	S1762P	probably damaging	Het
Krt80	T	A	15: 101,247,978 (GRCm39)	T221S	unknown	Het
Lama2	T	C	10: 26,994,620 (GRCm39)	D1763G	probably benign	Het
Lrp5	T	C	19: 3,670,286 (GRCm39)	D606G	probably benign	Het
Map6d1	T	C	16: 20,059,933 (GRCm39)	D44G	probably benign	Het
Mtmr11	T	A	3: 96,072,372 (GRCm39)	I282K	probably benign	Het
Nalcn	G	A	14: 123,515,713 (GRCm39)	T1696M	possibly damaging	Het
Nup214	T	C	2: 31,924,244 (GRCm39)	V1591A	probably benign	Het
Oas1f	C	A	5: 120,986,243 (GRCm39)	Y65*	probably null	Het
Or1x6	T	A	11: 50,939,662 (GRCm39)	C243S	probably damaging	Het
Or2t43	T	A	11: 58,457,683 (GRCm39)	T163S	possibly damaging	Het
Or2t46	T	C	11: 58,472,636 (GRCm39)	V322A	probably benign	Het
Or51f1e	A	T	7: 102,746,971 (GRCm39)	T8S	probably benign	Het
Or5p58	A	T	7: 107,694,471 (GRCm39)	I102K	possibly damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pigyl	A	G	9: 22,069,324 (GRCm39)	I12V	probably benign	Het
Pno1	A	T	11: 17,158,791 (GRCm39)	D202E	probably benign	Het
Ppp5c	A	T	7: 16,743,849 (GRCm39)	M195K	probably damaging	Het
Prrc2a	A	T	17: 35,369,598 (GRCm39)	F1905Y	possibly damaging	Het
Ptpn11	C	A	5: 121,282,681 (GRCm39)	D435Y	probably damaging	Het
Rbm33	A	G	5: 28,544,164 (GRCm39)	Y140C	probably damaging	Het
Runx1t1	A	G	4: 13,865,225 (GRCm39)	E339G	possibly damaging	Het
Scube3	G	T	17: 28,383,670 (GRCm39)	K480N	possibly damaging	Het
Sephs1	T	A	2: 4,910,469 (GRCm39)	M313K	probably benign	Het
Tcaim	T	C	9: 122,655,995 (GRCm39)	W304R	probably damaging	Het
Terf2ip	C	T	8: 112,738,514 (GRCm39)	T134I	probably damaging	Het
Terf2ip	A	G	8: 112,744,528 (GRCm39)	T282A	probably benign	Het
Tnfrsf18	G	T	4: 156,112,448 (GRCm39)	A102S	probably benign	Het
Trim10	A	T	17: 37,184,168 (GRCm39)	I254F	probably benign	Het
Triqk	A	G	4: 12,962,987 (GRCm39)	T9A	probably benign	Het
Tshz2	G	A	2: 169,726,013 (GRCm39)	S203N	probably benign	Het
Zc3h13	G	A	14: 75,561,128 (GRCm39)	V573I	unknown	Het
Zfhx4	A	G	3: 5,306,833 (GRCm39)	K20E	probably damaging	Het
Zfhx4	A	G	3: 5,465,395 (GRCm39)	D1876G	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
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
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'- TCATCTACCTGGCACTGCAG -3'
(R):5'- GACACCTCACTTCCAGAAGAGG -3'

Sequencing Primer
(F):5'- CAGCTGGGTTGCATTGCTCTC -3'
(R):5'- TTCCAGAAGAGGACATTCCAG -3'

Posted On

2022-04-18