Mutagenetix > Incidental Mutation

Incidental Mutation 'R8845:Acer3'

674655

Institutional Source

Beutler Lab

Gene Symbol

Acer3

Ensembl Gene

ENSMUSG00000030760

Gene Name

alkaline ceramidase 3

Synonyms

1110057L18Rik, 5430429L08Rik, Phca

MMRRC Submission

068734-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R8845 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97863015-97970415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97910832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 77 (S77P)

Ref Sequence

ENSEMBL: ENSMUSP00000033020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033020] [ENSMUST00000120520] [ENSMUST00000137899] [ENSMUST00000151258]

AlphaFold

Q9D099

Predicted Effect

probably damaging
Transcript: ENSMUST00000033020
AA Change: S77P

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

SMART Domains

Protein: ENSMUSP00000033020
Gene: ENSMUSG00000030760
AA Change: S77P

Domain	Start	End	E-Value	Type
Pfam:Ceramidase	9	264	4.9e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120520
AA Change: S35P

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

SMART Domains

Protein: ENSMUSP00000112884
Gene: ENSMUSG00000030760
AA Change: S35P

Domain	Start	End	E-Value	Type
Pfam:Ceramidase	1	219	1.9e-66	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000137899
AA Change: S77P

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

SMART Domains

Protein: ENSMUSP00000120334
Gene: ENSMUSG00000030760
AA Change: S77P

Domain	Start	End	E-Value	Type
Pfam:Ceramidase	8	90	8.9e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000151258
AA Change: S77P

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

SMART Domains

Protein: ENSMUSP00000116127
Gene: ENSMUSG00000030760
AA Change: S77P

Domain	Start	End	E-Value	Type
Pfam:Ceramidase	8	172	5.5e-63	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,846,428 (GRCm39)	P627S	probably benign	Het
Abca4	G	A	3: 121,930,651 (GRCm39)	V1383M	probably damaging	Het
Adgrv1	G	T	13: 81,629,478 (GRCm39)	T3640N	possibly damaging	Het
Agmo	T	C	12: 37,294,364 (GRCm39)	L104P	probably benign	Het
Alox12	C	A	11: 70,137,877 (GRCm39)	G421V	probably damaging	Het
Atad2	A	G	15: 57,989,532 (GRCm39)	V182A	probably damaging	Het
Bnc2	C	T	4: 84,194,338 (GRCm39)	A929T	possibly damaging	Het
Bola3	T	C	6: 83,335,154 (GRCm39)	M83T	probably damaging	Het
Brca2	T	C	5: 150,466,847 (GRCm39)	F2204L	possibly damaging	Het
Cachd1	T	C	4: 100,810,343 (GRCm39)	V315A	probably benign	Het
Ccdc154	C	A	17: 25,390,138 (GRCm39)	N547K	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cdc40	G	A	10: 40,717,790 (GRCm39)	T371I	possibly damaging	Het
Cep112	T	C	11: 108,461,193 (GRCm39)	F657L	probably damaging	Het
Cirbp	A	G	10: 80,005,931 (GRCm39)	D62G	probably damaging	Het
Cntf	A	C	19: 12,741,664 (GRCm39)	S65R	probably benign	Het
Cxxc4	CGGC	CGGCGGGGGC	3: 133,945,912 (GRCm39)		probably benign	Het
Cyfip1	G	T	7: 55,579,834 (GRCm39)	G1229V	probably benign	Het
Cyp4a30b	A	C	4: 115,315,493 (GRCm39)	N238T	probably benign	Het
Dbx2	G	A	15: 95,552,517 (GRCm39)	R43C	probably benign	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Fbxw13	G	T	9: 109,023,833 (GRCm39)	F70L	possibly damaging	Het
Fhod3	A	G	18: 25,265,976 (GRCm39)	T1555A	probably damaging	Het
Fnbp4	A	G	2: 90,606,368 (GRCm39)	M763V	probably benign	Het
Gdf7	A	G	12: 8,348,905 (GRCm39)	S131P	unknown	Het
Gm9938	A	T	19: 23,701,941 (GRCm39)	E93V	unknown	Het
Golim4	A	T	3: 75,802,272 (GRCm39)	M340K	probably damaging	Het
Gphn	A	G	12: 78,538,953 (GRCm39)	S200G	probably benign	Het
Hpse	T	C	5: 100,859,248 (GRCm39)	D99G	probably benign	Het
Iqgap2	A	T	13: 95,794,392 (GRCm39)	N1193K	possibly damaging	Het
Jag2	A	T	12: 112,883,714 (GRCm39)	C256S	probably damaging	Het
Ldb3	T	C	14: 34,258,634 (GRCm39)	Y657C	probably damaging	Het
Lmtk2	T	A	5: 144,110,704 (GRCm39)	Y475N	probably damaging	Het
Mep1b	A	T	18: 21,230,379 (GRCm39)	K644*	probably null	Het
Muc4	A	C	16: 32,576,889 (GRCm39)	T60P	possibly damaging	Het
Nckap5	G	T	1: 125,909,423 (GRCm39)	Q1603K	possibly damaging	Het
Npy6r	C	T	18: 44,408,606 (GRCm39)	T9I	probably benign	Het
Nsd2	T	C	5: 34,039,885 (GRCm39)	C846R	probably damaging	Het
Oard1	A	C	17: 48,721,259 (GRCm39)	K64Q	probably benign	Het
Or4c103	T	A	2: 88,513,735 (GRCm39)	I114F	possibly damaging	Het
Or52e19b	A	T	7: 103,032,357 (GRCm39)	V284D	probably damaging	Het
Or5w8	G	T	2: 87,687,545 (GRCm39)	V9L	probably benign	Het
Or6c208	A	G	10: 129,224,065 (GRCm39)	T188A	probably damaging	Het
Pkhd1l1	T	G	15: 44,368,650 (GRCm39)	S823A	probably benign	Het
Pla2r1	A	G	2: 60,259,053 (GRCm39)	S1112P	possibly damaging	Het
Plekho2	T	C	9: 65,465,963 (GRCm39)	T142A	probably damaging	Het
Prr35	A	T	17: 26,165,823 (GRCm39)	V488E	probably benign	Het
Prrc2b	T	A	2: 32,102,105 (GRCm39)	M726K	possibly damaging	Het
Prrc2b	A	T	2: 32,106,162 (GRCm39)	K1514I	possibly damaging	Het
Rin1	A	T	19: 5,104,947 (GRCm39)	D669V	probably damaging	Het
Setd1b	C	T	5: 123,282,310 (GRCm39)	A146V	unknown	Het
Sigmar1	G	A	4: 41,741,234 (GRCm39)	R7W	probably damaging	Het
Slain1	C	T	14: 103,925,747 (GRCm39)	T365I	possibly damaging	Het
Slc38a2	G	A	15: 96,592,900 (GRCm39)	T186I	probably benign	Het
Tas2r130	A	T	6: 131,607,642 (GRCm39)	V51E	probably benign	Het
Tgfb1i1	A	T	7: 127,851,690 (GRCm39)	H332L	possibly damaging	Het
Trav7n-4	T	C	14: 53,328,846 (GRCm39)	L15S	probably damaging	Het
Ttc28	T	C	5: 111,372,041 (GRCm39)	V861A	probably benign	Het
Ttn	A	G	2: 76,632,658 (GRCm39)	I14132T	probably damaging	Het
Ttn	T	C	2: 76,606,380 (GRCm39)	E18143G	probably damaging	Het
Vmn1r203	C	T	13: 22,708,720 (GRCm39)	S167L	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,361 (GRCm39)	H387Q	probably benign	Het
Vps33a	A	T	5: 123,709,538 (GRCm39)		probably null	Het
Vps50	G	A	6: 3,504,926 (GRCm39)	V31I	probably benign	Het
Wdcp	A	G	12: 4,901,439 (GRCm39)	T432A	probably benign	Het
Wdr36	T	A	18: 32,994,098 (GRCm39)	Y645*	probably null	Het

Other mutations in Acer3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01729:Acer3	APN	7	97,866,072 (GRCm39)	missense	probably benign	0.04
IGL01763:Acer3	APN	7	97,915,339 (GRCm39)	splice site	probably benign
IGL02550:Acer3	APN	7	97,873,185 (GRCm39)	missense	probably benign	0.00
IGL02694:Acer3	APN	7	97,866,084 (GRCm39)	missense	probably benign	0.11
R0278:Acer3	UTSW	7	97,910,804 (GRCm39)	missense	probably damaging	1.00
R0942:Acer3	UTSW	7	97,906,949 (GRCm39)	missense	probably damaging	1.00
R4777:Acer3	UTSW	7	97,910,804 (GRCm39)	missense	probably damaging	1.00
R4887:Acer3	UTSW	7	97,906,908 (GRCm39)	missense	possibly damaging	0.91
R5243:Acer3	UTSW	7	97,867,277 (GRCm39)	missense	possibly damaging	0.94
R6338:Acer3	UTSW	7	97,906,922 (GRCm39)	missense	probably damaging	0.98
R6534:Acer3	UTSW	7	97,875,655 (GRCm39)	missense	probably benign	0.02
R9367:Acer3	UTSW	7	97,908,621 (GRCm39)	missense	probably damaging	0.98
X0017:Acer3	UTSW	7	97,873,191 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TGCTCAATTTGAGTCCTTTGAC -3'
(R):5'- AGCTGACCAACTATGCACATTAAAG -3'

Sequencing Primer
(F):5'- CTCAAGTGAAAGACTTCAAAGATGAC -3'
(R):5'- TGCACATTAAAGCTTATCTTGAGC -3'

Posted On

2021-07-15