Mutagenetix > Incidental Mutation

Incidental Mutation 'R6748:Aph1c'

530649

Institutional Source

Beutler Lab

Gene Symbol

Aph1c

Ensembl Gene

ENSMUSG00000053040

Gene Name

aph1 homolog C, gamma secretase subunit

Synonyms

0610008A10Rik

MMRRC Submission

044865-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66722276-66741953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66740577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 50 (S50P)

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 damaging
Transcript: ENSMUST00000169282
AA Change: S50P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130359
Gene: ENSMUSG00000053040
AA Change: S50P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	C	A	1: 38,574,327 (GRCm39)	R178I	probably damaging	Het
Agr3	A	G	12: 35,997,594 (GRCm39)		probably null	Het
Aoc1	C	T	6: 48,883,228 (GRCm39)	T368I	possibly damaging	Het
Arhgap30	A	G	1: 171,232,378 (GRCm39)	E341G	possibly damaging	Het
Atp8b3	A	T	10: 80,361,058 (GRCm39)	M926K	possibly damaging	Het
C1qtnf9	A	G	14: 61,017,276 (GRCm39)	N269D	probably damaging	Het
Cdc42bpb	T	C	12: 111,261,273 (GRCm39)		probably benign	Het
Clec4a1	T	C	6: 122,910,856 (GRCm39)	I237T	possibly damaging	Het
Clpx	A	G	9: 65,217,441 (GRCm39)	N3S	probably benign	Het
Col19a1	A	G	1: 24,573,151 (GRCm39)	I207T	unknown	Het
Cyp2j8	T	A	4: 96,363,782 (GRCm39)	T294S	probably benign	Het
Dnah1	A	G	14: 31,021,945 (GRCm39)	I1186T	probably damaging	Het
Dnhd1	T	G	7: 105,369,844 (GRCm39)	V4423G	probably benign	Het
Dock4	A	T	12: 40,754,465 (GRCm39)	I485F	probably benign	Het
Drd2	T	A	9: 49,314,502 (GRCm39)	C244*	probably null	Het
Frmpd1	T	A	4: 45,274,397 (GRCm39)	I435K	probably benign	Het
Fzd5	A	G	1: 64,774,723 (GRCm39)	M346T	possibly damaging	Het
Gc	T	C	5: 89,583,431 (GRCm39)	T371A	probably benign	Het
Gm12185	T	A	11: 48,807,123 (GRCm39)	T23S	possibly damaging	Het
Hbq1a	A	G	11: 32,250,169 (GRCm39)		probably null	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Il1rap	A	T	16: 26,541,106 (GRCm39)	N449I	probably benign	Het
Itgb5	T	A	16: 33,719,667 (GRCm39)	D279E	probably damaging	Het
Mat2b	T	A	11: 40,571,021 (GRCm39)	I268F	probably benign	Het
Mtor	T	C	4: 148,634,641 (GRCm39)	F2421L	probably damaging	Het
Myo5b	G	A	18: 74,834,574 (GRCm39)	R878Q	possibly damaging	Het
Nkx2-6	A	G	14: 69,412,555 (GRCm39)	D241G	probably benign	Het
Or4f14	T	A	2: 111,742,702 (GRCm39)	N191I	possibly damaging	Het
Or5h23	T	A	16: 58,906,253 (GRCm39)	M198L	probably benign	Het
Pcdhb22	A	C	18: 37,651,799 (GRCm39)	D89A	probably damaging	Het
Pcnx2	C	T	8: 126,577,074 (GRCm39)	R986Q	probably damaging	Het
Plxna2	A	G	1: 194,476,490 (GRCm39)		probably null	Het
Ppwd1	A	T	13: 104,344,538 (GRCm39)	Y527*	probably null	Het
Pramel35	T	C	5: 94,000,072 (GRCm39)	W38R	probably benign	Het
Rnf126	A	G	10: 79,597,970 (GRCm39)	L131P	probably benign	Het
Rsl1	T	A	13: 67,330,688 (GRCm39)	C379S	probably benign	Het
Sec23b	A	G	2: 144,408,714 (GRCm39)	Y133C	probably damaging	Het
Slc25a24	T	A	3: 109,056,823 (GRCm39)	V112D	possibly damaging	Het
Slc35f3	A	T	8: 127,121,377 (GRCm39)	R413*	probably null	Het
Tas1r2	T	C	4: 139,396,922 (GRCm39)	F754L	probably damaging	Het
Tbc1d14	A	G	5: 36,652,598 (GRCm39)	S615P	probably damaging	Het
Ttc17	T	C	2: 94,216,447 (GRCm39)	K80R	probably benign	Het
Ttn	T	C	2: 76,576,428 (GRCm39)	T24822A	possibly damaging	Het
Vmn1r222	C	A	13: 23,417,117 (GRCm39)	R32L	probably benign	Het
Zfp354b	G	A	11: 50,813,659 (GRCm39)	T422M	probably damaging	Het
Zfp407	G	A	18: 84,226,955 (GRCm39)	T2218M	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
IGL03168:Aph1c	APN	9	66,740,619 (GRCm39)	splice site	probably benign
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
R8182:Aph1c	UTSW	9	66,740,549 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTCAGGCTAGAAATGTAACAACCAC -3'
(R):5'- ATCTGACGTTCCTCTTGGACTG -3'

Sequencing Primer
(F):5'- GCTAGAAATGTAACAACCACCAAATC -3'
(R):5'- CATGTGAAGGGGTTCTTTC -3'

Posted On

2018-08-01