Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03156:Sap30l'

411291

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sap30l

Ensembl Gene

ENSMUSG00000020519

Gene Name

SAP30-like

Synonyms

2310079P12Rik, L55

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.415) question?

Stock #

IGL03156

Quality Score

Status

Chromosome

Chromosomal Location

57692463-57701043 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 57696994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020826]

AlphaFold

Q5SQF8

Predicted Effect

probably null
Transcript: ENSMUST00000020826

SMART Domains

Protein: ENSMUSP00000020826
Gene: ENSMUSG00000020519

Domain	Start	End	E-Value	Type
low complexity region	14	22	N/A	INTRINSIC
Pfam:zf-SAP30	23	94	4.5e-40	PFAM
Pfam:SAP30_Sin3_bdg	113	165	7.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152790

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,023,074 (GRCm39)	I70T	possibly damaging	Het
Acot11	A	G	4: 106,611,333 (GRCm39)	Y365H	probably damaging	Het
Bdp1	A	G	13: 100,197,544 (GRCm39)	V947A	probably benign	Het
Ccdc159	G	T	9: 21,840,771 (GRCm39)	V113L	probably benign	Het
Cep350	T	C	1: 155,733,788 (GRCm39)	D3035G	probably damaging	Het
Clca3a1	T	A	3: 144,719,672 (GRCm39)	I433F	probably damaging	Het
Cntn5	T	C	9: 9,673,882 (GRCm39)	Y740C	probably damaging	Het
Dennd5a	C	A	7: 109,518,462 (GRCm39)		probably benign	Het
Des	G	A	1: 75,339,640 (GRCm39)	E333K	probably damaging	Het
Dnah7a	T	C	1: 53,644,983 (GRCm39)	R1018G	probably damaging	Het
Eif2b2	G	T	12: 85,266,495 (GRCm39)	A54S	probably damaging	Het
Gm7276	C	T	18: 77,273,299 (GRCm39)		probably benign	Het
Hsbp1l1	A	G	18: 80,278,734 (GRCm39)		probably benign	Het
Iars1	G	A	13: 49,856,655 (GRCm39)	G303S	possibly damaging	Het
Il18r1	A	G	1: 40,537,528 (GRCm39)	E431G	possibly damaging	Het
Lrrc14b	A	G	13: 74,512,023 (GRCm39)	V19A	probably benign	Het
Map1lc3a	T	A	2: 155,118,929 (GRCm39)	I31N	probably damaging	Het
Ms4a20	A	T	19: 11,083,114 (GRCm39)	I102K	possibly damaging	Het
Obscn	T	C	11: 58,945,722 (GRCm39)	Y4163C	probably damaging	Het
Or5p6	T	A	7: 107,631,558 (GRCm39)		probably benign	Het
Pcsk1	A	G	13: 75,280,070 (GRCm39)	T632A	probably benign	Het
Potefam1	T	C	2: 111,030,757 (GRCm39)	D12G	possibly damaging	Het
Ppp1r15a	A	G	7: 45,174,595 (GRCm39)	L71P	possibly damaging	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Rimbp2	T	G	5: 128,848,821 (GRCm39)	R908S	probably damaging	Het
Rnh1	T	C	7: 140,743,096 (GRCm39)	N268S	probably damaging	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Serpina12	T	C	12: 104,004,158 (GRCm39)	Y158C	probably damaging	Het
Tmem237	A	T	1: 59,148,286 (GRCm39)	D148E	probably damaging	Het
Trmt13	T	C	3: 116,379,451 (GRCm39)	D232G	probably benign	Het
Zan	T	A	5: 137,462,201 (GRCm39)	T993S	unknown	Het
Zfp236	G	A	18: 82,698,827 (GRCm39)	L85F	probably damaging	Het
Zfp352	G	A	4: 90,112,324 (GRCm39)	D155N	possibly damaging	Het
Zfp867	T	C	11: 59,355,834 (GRCm39)		probably benign	Het
Zmiz2	T	C	11: 6,349,536 (GRCm39)	F399L	probably damaging	Het

Other mutations in Sap30l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01996:Sap30l	APN	11	57,700,777 (GRCm39)	nonsense	probably null
R1771:Sap30l	UTSW	11	57,696,925 (GRCm39)	missense	probably damaging	1.00
R1808:Sap30l	UTSW	11	57,700,771 (GRCm39)	missense	probably benign	0.00
R4863:Sap30l	UTSW	11	57,696,880 (GRCm39)	missense	probably damaging	1.00
R7594:Sap30l	UTSW	11	57,700,947 (GRCm39)	splice site	probably null
R7619:Sap30l	UTSW	11	57,698,887 (GRCm39)	missense	probably damaging	1.00
R7675:Sap30l	UTSW	11	57,700,867 (GRCm39)	missense	probably damaging	1.00
R8720:Sap30l	UTSW	11	57,698,875 (GRCm39)	missense	probably damaging	1.00
R9708:Sap30l	UTSW	11	57,696,936 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02