Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03168:Aph1c'

411743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aph1c

Ensembl Gene

ENSMUSG00000053040

Gene Name

aph1 homolog C, gamma secretase subunit

Synonyms

0610008A10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03168

Quality Score

Status

Chromosome

Chromosomal Location

66722276-66741953 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 66740619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057261] [ENSMUST00000169282]

AlphaFold

Q9DCZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000057261

SMART Domains

Protein: ENSMUSP00000056476
Gene: ENSMUSG00000053040

Domain	Start	End	E-Value	Type
Pfam:Aph-1	1	196	3.2e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166507

Predicted Effect

probably benign
Transcript: ENSMUST00000169282

SMART Domains

Protein: ENSMUSP00000130359
Gene: ENSMUSG00000053040

Domain	Start	End	E-Value	Type
Pfam:Aph-1	2	239	3.2e-91	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable and fertile and do not show any significant aberrations in the brain, kidney, or testis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	T	C	13: 4,486,280 (GRCm39)	V29A	probably benign	Het
Ankk1	C	A	9: 49,327,068 (GRCm39)	A704S	possibly damaging	Het
Arglu1	T	A	8: 8,733,960 (GRCm39)	I119L	probably benign	Het
Brwd1	A	T	16: 95,818,877 (GRCm39)	S1318R	possibly damaging	Het
Calhm4	C	T	10: 33,917,552 (GRCm39)	V300I	probably benign	Het
Chd3	A	G	11: 69,239,741 (GRCm39)		probably benign	Het
Colq	T	C	14: 31,246,377 (GRCm39)	Y445C	probably damaging	Het
Cyp2a4	A	T	7: 26,012,975 (GRCm39)		probably benign	Het
Cyp2j7	C	T	4: 96,118,274 (GRCm39)	M106I	probably benign	Het
Erfe	T	G	1: 91,299,164 (GRCm39)	N302K	probably damaging	Het
Fggy	A	T	4: 95,815,046 (GRCm39)		probably benign	Het
Gata3	A	G	2: 9,873,625 (GRCm39)	Y290H	probably damaging	Het
Grik4	T	C	9: 42,582,539 (GRCm39)	T136A	probably damaging	Het
Hc	G	T	2: 34,914,210 (GRCm39)	N832K	probably benign	Het
Jhy	A	T	9: 40,828,848 (GRCm39)	S353T	possibly damaging	Het
Krt40	T	A	11: 99,433,854 (GRCm39)	Q44L	possibly damaging	Het
Ksr2	T	C	5: 117,886,846 (GRCm39)	F794S	probably damaging	Het
Or2l13	A	T	16: 19,305,969 (GRCm39)	H127L	probably benign	Het
Or2n1e	A	C	17: 38,585,682 (GRCm39)	S7R	probably damaging	Het
Or4p7	A	G	2: 88,221,938 (GRCm39)	M116V	probably damaging	Het
Or5ac16	A	G	16: 59,022,610 (GRCm39)	Y60H	probably damaging	Het
Or5t9	A	G	2: 86,659,607 (GRCm39)	I170M	possibly damaging	Het
Or8b1c	A	G	9: 38,384,315 (GRCm39)	T91A	probably benign	Het
Pcdhb17	A	G	18: 37,618,825 (GRCm39)	E205G	probably benign	Het
Pon3	A	T	6: 5,256,177 (GRCm39)	I17K	possibly damaging	Het
Prkd2	A	G	7: 16,584,188 (GRCm39)	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,652,030 (GRCm39)	I3806V	probably benign	Het
Qpct	C	A	17: 79,359,753 (GRCm39)	A20E	unknown	Het
Rap1a	A	G	3: 105,657,587 (GRCm39)	S11P	probably damaging	Het
Rnf145	C	A	11: 44,445,985 (GRCm39)	T273K	probably damaging	Het
Speg	T	C	1: 75,364,831 (GRCm39)	I298T	probably damaging	Het
Syt6	G	A	3: 103,494,943 (GRCm39)	V303M	probably damaging	Het
Tpr	A	G	1: 150,284,508 (GRCm39)	I324M	probably benign	Het
Uggt2	A	G	14: 119,315,080 (GRCm39)	F330L	probably damaging	Het
Unc45a	A	T	7: 79,982,881 (GRCm39)	L348Q	probably damaging	Het
Vmn1r17	T	A	6: 57,337,583 (GRCm39)	I212F	probably benign	Het
Vmn2r68	A	C	7: 84,870,972 (GRCm39)	N770K	probably damaging	Het
Zfhx3	T	C	8: 109,673,132 (GRCm39)	V1394A	probably damaging	Het

Other mutations in Aph1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02615:Aph1c	APN	9	66,726,688 (GRCm39)	missense	possibly damaging	0.94
R0598:Aph1c	UTSW	9	66,740,601 (GRCm39)	missense	probably damaging	1.00
R1519:Aph1c	UTSW	9	66,740,547 (GRCm39)	missense	probably benign	0.07
R2084:Aph1c	UTSW	9	66,726,579 (GRCm39)	missense	probably damaging	1.00
R2853:Aph1c	UTSW	9	66,741,764 (GRCm39)	splice site	probably null
R4233:Aph1c	UTSW	9	66,740,603 (GRCm39)	missense	probably damaging	1.00
R4472:Aph1c	UTSW	9	66,735,051 (GRCm39)	missense	probably damaging	1.00
R4865:Aph1c	UTSW	9	66,735,120 (GRCm39)	missense	probably damaging	1.00
R5435:Aph1c	UTSW	9	66,741,783 (GRCm39)	missense	possibly damaging	0.95
R6710:Aph1c	UTSW	9	66,741,802 (GRCm39)	missense	probably benign	0.00
R6748:Aph1c	UTSW	9	66,740,577 (GRCm39)	missense	probably damaging	1.00
R8182:Aph1c	UTSW	9	66,740,549 (GRCm39)	missense	possibly damaging	0.91

Posted On

2016-08-02