Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02532:Sugp1'

297357

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sugp1

Ensembl Gene

ENSMUSG00000011306

Gene Name

SURP and G patch domain containing 1

Synonyms

Sf4

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

70042813-70072347 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70059819 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 239 (K239N)

Ref Sequence

ENSEMBL: ENSMUSP00000011450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011450]

PDB Structure

Solution structure of SURP domain in BAB30904 [SOLUTION NMR]
Solution structure of SURP domain in splicing factor 4 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000011450
AA Change: K239N

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306
AA Change: K239N

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC
SWAP	185	239	8e-20	SMART
SWAP	260	314	4.09e-17	SMART
low complexity region	344	365	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
G_patch	558	605	3.25e-17	SMART
low complexity region	628	643	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213035

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	C	6: 96,164,790	S424R	probably damaging	Het
2200002D01Rik	T	C	7: 29,248,220	K15E	possibly damaging	Het
Abca2	A	G	2: 25,435,136	T381A	probably benign	Het
Adcy1	T	A	11: 7,144,737	N554K	probably benign	Het
Adcy5	A	G	16: 35,272,083	I605V	possibly damaging	Het
Arhgap11a	G	T	2: 113,833,676	S754*	probably null	Het
Arhgef28	T	A	13: 98,029,883	D319V	probably damaging	Het
Brca2	A	G	5: 150,550,862	D2410G	probably damaging	Het
Carmil2	T	A	8: 105,692,431		probably null	Het
Catip	A	G	1: 74,364,616	N189S	probably damaging	Het
Cd177	T	C	7: 24,745,249	K636E	probably benign	Het
Cep290	A	G	10: 100,545,065	T145A	probably benign	Het
Cthrc1	T	C	15: 39,077,165		probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fas	C	A	19: 34,316,599	T118N	probably damaging	Het
Fgd3	G	A	13: 49,285,761	A253V	probably damaging	Het
Fig4	A	G	10: 41,285,281		probably benign	Het
Fubp3	T	C	2: 31,600,559		probably benign	Het
Gria2	T	A	3: 80,706,999	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,720,077	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,813,874		probably benign	Het
Ighv6-5	T	A	12: 114,416,804	D50V	probably benign	Het
Inpp5k	T	C	11: 75,633,184		probably benign	Het
Kalrn	T	C	16: 34,360,846	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,126,536	T389A	probably benign	Het
Klhl6	C	A	16: 19,957,082	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,586,889		probably benign	Het
Krt13	A	T	11: 100,119,369	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,720,591	S297P	probably benign	Het
Ndufs1	G	A	1: 63,170,139	R22C	probably damaging	Het
Nlrp5	T	A	7: 23,409,973	S115T	possibly damaging	Het
Pfpl	A	T	19: 12,428,845	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Psme1	T	A	14: 55,581,138	Y223*	probably null	Het
R3hdm1	T	C	1: 128,197,099		probably null	Het
Rnf103	A	G	6: 71,509,825	D480G	probably benign	Het
Rnf103	T	G	6: 71,509,652	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,255,966	V213A	probably damaging	Het
Sort1	G	T	3: 108,325,720	K203N	probably benign	Het
Sult2a8	C	T	7: 14,416,258	R176K	probably benign	Het
Usp34	T	A	11: 23,370,291	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,957,150	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,328,813	T303K	probably benign	Het

Other mutations in Sugp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02345:Sugp1	APN	8	70043084	unclassified	probably benign
IGL02887:Sugp1	APN	8	70070126	missense	probably damaging	1.00
IGL02962:Sugp1	APN	8	70059862	splice site	probably benign
IGL02966:Sugp1	APN	8	70071108	unclassified	probably benign
IGL03383:Sugp1	APN	8	70069567	unclassified	probably benign
R0348:Sugp1	UTSW	8	70070008	missense	probably damaging	1.00
R0376:Sugp1	UTSW	8	70052638	missense	probably damaging	1.00
R0511:Sugp1	UTSW	8	70059363	missense	probably damaging	1.00
R1930:Sugp1	UTSW	8	70071540	missense	probably benign	0.05
R1931:Sugp1	UTSW	8	70071540	missense	probably benign	0.05
R1933:Sugp1	UTSW	8	70056575	missense	possibly damaging	0.92
R1934:Sugp1	UTSW	8	70056575	missense	possibly damaging	0.92
R2391:Sugp1	UTSW	8	70059411	splice site	probably null
R2484:Sugp1	UTSW	8	70069524	missense	possibly damaging	0.89
R4500:Sugp1	UTSW	8	70056388	missense	probably benign
R4876:Sugp1	UTSW	8	70071184	missense	probably damaging	0.99
R5120:Sugp1	UTSW	8	70048667	missense	probably benign	0.02
R5724:Sugp1	UTSW	8	70070149	missense	probably damaging	0.98
R6736:Sugp1	UTSW	8	70059303	missense	probably benign	0.44
R6967:Sugp1	UTSW	8	70060552	missense	possibly damaging	0.79
R7107:Sugp1	UTSW	8	70070150	missense	probably benign	0.00
R7388:Sugp1	UTSW	8	70052619	missense	probably damaging	0.98

Posted On

2015-04-16