Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01996:Sap30l'

182905

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: 0.271) question?

Stock #

IGL01996

Quality Score

Status

Chromosome

Chromosomal Location

57801637-57810217 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 57809951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 144 (R144*)

Ref Sequence

ENSEMBL: ENSMUSP00000020826 (fasta)

Gene Model

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

AlphaFold

Q5SQF8

Predicted Effect

probably null
Transcript: ENSMUST00000020826
AA Change: R144*

SMART Domains

Protein: ENSMUSP00000020826
Gene: ENSMUSG00000020519
AA Change: R144*

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,150,700	V29A	possibly damaging	Het
Adarb1	A	G	10: 77,322,217	L132P	probably damaging	Het
Afg3l1	T	G	8: 123,501,894	M733R	probably damaging	Het
Aox1	C	T	1: 58,082,066	R899C	probably benign	Het
Arhgap44	T	A	11: 65,005,496		probably benign	Het
Asns	T	C	6: 7,682,378	D189G	possibly damaging	Het
Brap	A	G	5: 121,678,847		probably benign	Het
Ccdc138	T	A	10: 58,562,030	L564H	probably damaging	Het
Ccdc167	A	G	17: 29,705,487		probably null	Het
Ccdc178	A	G	18: 22,097,756	Y353H	probably damaging	Het
Clca3b	A	T	3: 144,849,163	S41R	probably benign	Het
Dpep3	T	C	8: 105,974,726	N397S	probably damaging	Het
Eif1	T	C	11: 100,321,000	I83T	probably benign	Het
Enah	A	T	1: 181,956,505	W80R	unknown	Het
F2rl1	C	T	13: 95,513,924	C150Y	probably damaging	Het
Fbxw24	T	C	9: 109,605,372	R387G	possibly damaging	Het
Fsd1l	A	G	4: 53,647,760	T68A	probably benign	Het
Greb1	T	C	12: 16,690,845	K1412R	possibly damaging	Het
Grin2b	T	C	6: 135,732,586	S1321G	probably damaging	Het
Hist1h4j	G	A	13: 21,735,138	G15S	unknown	Het
Itgb7	C	T	15: 102,217,977	G508D	probably damaging	Het
Kcnq3	A	G	15: 66,023,696	I333T	probably damaging	Het
Knl1	A	G	2: 119,104,061	D2115G	probably damaging	Het
Lmtk3	G	A	7: 45,793,447		probably null	Het
Lrpprc	A	G	17: 84,773,270	Y176H	probably benign	Het
Mier1	T	C	4: 103,127,276	S22P	possibly damaging	Het
Mme	A	T	3: 63,343,549	N337I	probably benign	Het
Mthfd1	A	G	12: 76,303,905	Y687C	probably damaging	Het
Nrp2	T	C	1: 62,749,260	M373T	probably damaging	Het
Nudcd1	A	T	15: 44,405,961	F101Y	probably benign	Het
Nup133	T	A	8: 123,946,595	I66L	probably benign	Het
Olfr1406	T	C	1: 173,183,727	T236A	probably benign	Het
Olfr378	T	A	11: 73,425,968	N5I	probably damaging	Het
Olfr736	T	G	14: 50,393,659	M301R	probably damaging	Het
Osbpl5	A	G	7: 143,707,344		probably null	Het
Paqr8	T	C	1: 20,935,404	F261L	probably damaging	Het
Plxna2	A	G	1: 194,799,776	E1452G	probably damaging	Het
Polh	T	C	17: 46,173,001	D446G	probably benign	Het
Psg19	A	T	7: 18,790,061	M353K	possibly damaging	Het
Sap25	T	C	5: 137,641,818		probably null	Het
Sema6b	C	T	17: 56,131,157	V144M	probably damaging	Het
Sfmbt2	T	C	2: 10,440,026	Y228H	probably benign	Het
Shank2	A	G	7: 144,411,493	D946G	probably damaging	Het
Slc11a1	T	A	1: 74,376,806	L52Q	possibly damaging	Het
Sptlc3	T	C	2: 139,581,504		probably benign	Het
Tgfb1i1	T	C	7: 128,249,292		probably benign	Het
Tifa	T	C	3: 127,796,580		probably benign	Het
Tomm40l	C	T	1: 171,219,655	V265M	possibly damaging	Het
Trim45	C	A	3: 100,928,109	Y469*	probably null	Het
Ttc21a	G	T	9: 119,958,116	A730S	probably damaging	Het
Vmn1r18	A	T	6: 57,390,016	D184E	possibly damaging	Het
Vmn2r120	A	T	17: 57,525,222	I189N	possibly damaging	Het

Other mutations in Sap30l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03156:Sap30l	APN	11	57806168	critical splice donor site	probably null
R1771:Sap30l	UTSW	11	57806099	missense	probably damaging	1.00
R1808:Sap30l	UTSW	11	57809945	missense	probably benign	0.00
R4863:Sap30l	UTSW	11	57806054	missense	probably damaging	1.00
R7594:Sap30l	UTSW	11	57810121	splice site	probably null
R7619:Sap30l	UTSW	11	57808061	missense	probably damaging	1.00
R7675:Sap30l	UTSW	11	57810041	missense	probably damaging	1.00
R8720:Sap30l	UTSW	11	57808049	missense	probably damaging	1.00
R9708:Sap30l	UTSW	11	57806110	missense	probably damaging	1.00

Posted On

2014-05-07