Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01532:Gpalpp1'

89787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpalpp1

Ensembl Gene

ENSMUSG00000022008

Gene Name

GPALPP motifs containing 1

Synonyms

1200011I18Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

76323676-76348200 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76339942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 124 (K124E)

Ref Sequence

ENSEMBL: ENSMUSP00000022585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022585]

AlphaFold

Q69ZC8

Predicted Effect

probably benign
Transcript: ENSMUST00000022585
AA Change: K124E

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

SMART Domains

Protein: ENSMUSP00000022585
Gene: ENSMUSG00000022008
AA Change: K124E

Domain	Start	End	E-Value	Type
low complexity region	41	67	N/A	INTRINSIC
low complexity region	105	117	N/A	INTRINSIC
Pfam:DUF3752	202	338	8.9e-25	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,558,349 (GRCm39)	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,842,416 (GRCm39)	T260I	probably damaging	Het
Ambra1	G	T	2: 91,715,977 (GRCm39)	K769N	probably damaging	Het
Arel1	A	G	12: 84,980,936 (GRCm39)	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,903,651 (GRCm39)	C76*	probably null	Het
AW112010	C	A	19: 11,025,433 (GRCm39)		noncoding transcript	Het
Bfar	A	T	16: 13,505,251 (GRCm39)		probably benign	Het
Ccdc70	T	G	8: 22,463,299 (GRCm39)	L30V	probably damaging	Het
Cep20	A	G	16: 14,122,375 (GRCm39)	S130P	probably benign	Het
Chrm5	C	T	2: 112,309,577 (GRCm39)	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732 (GRCm39)	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,689,928 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,208,660 (GRCm39)	T849A	probably benign	Het
Dock8	G	T	19: 25,146,805 (GRCm39)	G1428V	probably damaging	Het
Eomes	T	C	9: 118,311,317 (GRCm39)	I380T	probably damaging	Het
Fam13a	T	C	6: 58,917,280 (GRCm39)	D532G	probably damaging	Het
Gm10061	G	T	16: 88,948,190 (GRCm39)	*55L	probably null	Het
Gm27438	T	G	2: 87,083,269 (GRCm39)		probably benign	Het
Hgs	T	A	11: 120,368,335 (GRCm39)		probably null	Het
Hpn	T	A	7: 30,802,938 (GRCm39)	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,334,088 (GRCm39)		probably null	Het
Jag2	A	T	12: 112,877,983 (GRCm39)	C583S	probably damaging	Het
Katnal2	T	C	18: 77,099,696 (GRCm39)	H146R	probably benign	Het
Ldah	T	C	12: 8,270,596 (GRCm39)		probably benign	Het
Lvrn	T	A	18: 47,033,551 (GRCm39)	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,423,743 (GRCm39)	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,450,551 (GRCm39)	S518G	probably benign	Het
Ncf1	T	C	5: 134,255,447 (GRCm39)	N148S	probably benign	Het
Nes	T	G	3: 87,885,654 (GRCm39)	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,062,981 (GRCm39)		probably benign	Het
Or52b4i	T	C	7: 102,191,863 (GRCm39)	L240P	probably damaging	Het
Rnf31	C	A	14: 55,840,080 (GRCm39)	Q968K	probably damaging	Het
Ros1	A	G	10: 51,967,034 (GRCm39)		probably benign	Het
Ryk	T	C	9: 102,774,465 (GRCm39)	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,250,022 (GRCm39)		probably null	Het
Sptssb	A	G	3: 69,728,202 (GRCm39)		probably benign	Het
Sstr5	T	C	17: 25,710,305 (GRCm39)	D308G	probably damaging	Het
Taf2	A	G	15: 54,912,882 (GRCm39)	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Vti1b	A	C	12: 79,211,912 (GRCm39)	L1W	probably null	Het
Wdr1	T	C	5: 38,692,530 (GRCm39)	Y125C	probably damaging	Het

Other mutations in Gpalpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2019:Gpalpp1	UTSW	14	76,348,131 (GRCm39)	splice site	probably null
R2327:Gpalpp1	UTSW	14	76,336,031 (GRCm39)	missense	probably benign	0.08
R3196:Gpalpp1	UTSW	14	76,336,063 (GRCm39)	splice site	probably null
R6394:Gpalpp1	UTSW	14	76,344,852 (GRCm39)	missense	possibly damaging	0.53
R7153:Gpalpp1	UTSW	14	76,332,451 (GRCm39)	missense	probably damaging	1.00
R9067:Gpalpp1	UTSW	14	76,344,792 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03