Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Aph1b'

287919

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aph1b

Ensembl Gene

ENSMUSG00000032375

Gene Name

aph1 homolog B, gamma secretase subunit

Synonyms

2310057K14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

66682484-66702772 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 66697955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034934] [ENSMUST00000113730] [ENSMUST00000168309]

AlphaFold

Q8C7N7

Predicted Effect

probably benign
Transcript: ENSMUST00000034934

SMART Domains

Protein: ENSMUSP00000034934
Gene: ENSMUSG00000032375

Domain	Start	End	E-Value	Type
Pfam:Aph-1	2	238	4.1e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113730

SMART Domains

Protein: ENSMUSP00000109359
Gene: ENSMUSG00000032375

Domain	Start	End	E-Value	Type
Pfam:Aph-1	2	119	2.7e-48	PFAM
Pfam:Aph-1	110	204	1.4e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168309

SMART Domains

Protein: ENSMUSP00000125816
Gene: ENSMUSG00000032375

Domain	Start	End	E-Value	Type
Pfam:Aph-1	2	172	7.8e-67	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,653,571 (GRCm39)	N136K	probably damaging	Het
Atf7ip	A	G	6: 136,583,718 (GRCm39)	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,857,160 (GRCm39)	N400S	probably damaging	Het
Brca2	C	A	5: 150,462,126 (GRCm39)	S630Y	probably damaging	Het
Chd6	T	A	2: 160,807,595 (GRCm39)	E1873V	probably damaging	Het
Chrna10	T	C	7: 101,761,236 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,739,328 (GRCm39)	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,639,770 (GRCm39)	N264S	probably damaging	Het
Cyria	A	G	12: 12,414,752 (GRCm39)	T248A	possibly damaging	Het
Dgkg	A	G	16: 22,388,980 (GRCm39)		probably benign	Het
Dpysl2	T	G	14: 67,061,839 (GRCm39)	M256L	probably benign	Het
Dsp	G	T	13: 38,380,499 (GRCm39)	E1816*	probably null	Het
Fam13b	T	C	18: 34,587,709 (GRCm39)	K530E	probably damaging	Het
Fastk	T	C	5: 24,648,090 (GRCm39)	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,166,420 (GRCm39)	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,669,718 (GRCm39)	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,343,617 (GRCm39)	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,235,700 (GRCm39)	T167A	probably benign	Het
Igsf10	A	G	3: 59,238,111 (GRCm39)	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,865 (GRCm39)		probably null	Het
Krt31	A	G	11: 99,939,222 (GRCm39)	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,493,070 (GRCm39)		probably benign	Het
Mfn2	T	A	4: 147,969,947 (GRCm39)	I375F	probably damaging	Het
Mfrp	A	T	9: 44,014,171 (GRCm39)	I180F	probably damaging	Het
Msh3	T	C	13: 92,485,820 (GRCm39)	E168G	possibly damaging	Het
Naa16	A	T	14: 79,622,108 (GRCm39)	V77D	probably damaging	Het
Nav2	T	C	7: 49,208,521 (GRCm39)	S1570P	probably damaging	Het
Niban3	A	G	8: 72,055,504 (GRCm39)	R305G	possibly damaging	Het
Numa1	C	T	7: 101,649,439 (GRCm39)	R1057*	probably null	Het
Nup210l	G	A	3: 90,030,099 (GRCm39)	A271T	probably damaging	Het
Ogdh	T	C	11: 6,305,400 (GRCm39)	V965A	probably damaging	Het
Or10h28	C	A	17: 33,488,639 (GRCm39)	Q314K	probably benign	Het
Or4m1	A	T	14: 50,557,473 (GRCm39)	V273E	probably damaging	Het
Or6c219	A	G	10: 129,781,772 (GRCm39)	L53P	probably damaging	Het
Or7g21	A	T	9: 19,032,671 (GRCm39)	N140I	probably damaging	Het
Or8b51	T	A	9: 38,569,362 (GRCm39)	I109F	probably damaging	Het
Pdp2	A	T	8: 105,321,531 (GRCm39)	Q460L	probably benign	Het
Pex5l	T	C	3: 33,047,141 (GRCm39)	T270A	probably benign	Het
Pkp4	C	T	2: 59,140,598 (GRCm39)	Q435*	probably null	Het
Prss32	G	A	17: 24,075,096 (GRCm39)	V149M	probably benign	Het
Riox2	C	A	16: 59,309,780 (GRCm39)	P378Q	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,781,521 (GRCm39)	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,652,321 (GRCm39)	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,894,387 (GRCm39)	G54*	probably null	Het
Slc24a5	C	T	2: 124,927,567 (GRCm39)		probably benign	Het
Tex101	C	T	7: 24,367,750 (GRCm39)	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,501,956 (GRCm39)	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,492,388 (GRCm39)	E382G	probably damaging	Het
Uggt1	A	T	1: 36,223,565 (GRCm39)	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,214,376 (GRCm39)	I259V	probably damaging	Het
Xpo1	T	A	11: 23,227,065 (GRCm39)	N131K	probably damaging	Het
Zfp579	C	T	7: 4,997,432 (GRCm39)	V160M	probably benign	Het
Zfp697	A	G	3: 98,332,766 (GRCm39)	D64G	probably benign	Het
Zfp974	T	C	7: 27,611,678 (GRCm39)	T16A	possibly damaging	Het

Other mutations in Aph1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0497:Aph1b	UTSW	9	66,697,900 (GRCm39)	nonsense	probably null
R0621:Aph1b	UTSW	9	66,686,616 (GRCm39)	missense	possibly damaging	0.94
R1253:Aph1b	UTSW	9	66,697,931 (GRCm39)	nonsense	probably null
R1864:Aph1b	UTSW	9	66,701,395 (GRCm39)	missense	probably benign	0.05
R2221:Aph1b	UTSW	9	66,691,921 (GRCm39)	missense	probably damaging	1.00
R2223:Aph1b	UTSW	9	66,691,921 (GRCm39)	missense	probably damaging	1.00
R3788:Aph1b	UTSW	9	66,701,348 (GRCm39)	splice site	probably benign
R4874:Aph1b	UTSW	9	66,697,878 (GRCm39)	critical splice donor site	probably null
R7497:Aph1b	UTSW	9	66,701,401 (GRCm39)	missense	probably damaging	0.98
R7652:Aph1b	UTSW	9	66,691,823 (GRCm39)	missense	probably benign	0.09
R8217:Aph1b	UTSW	9	66,686,554 (GRCm39)	missense	possibly damaging	0.75
R8420:Aph1b	UTSW	9	66,701,503 (GRCm39)	missense	probably damaging	1.00
R8480:Aph1b	UTSW	9	66,695,709 (GRCm39)	intron	probably benign
R9129:Aph1b	UTSW	9	66,686,595 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16