Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02966:Sugp1'

365621

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: 0.966) question?

Stock #

IGL02966

Quality Score

Status

Chromosome

Chromosomal Location

70042813-70072347 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 70071108 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011450] [ENSMUST00000049197] [ENSMUST00000110160]

Predicted Effect

probably benign
Transcript: ENSMUST00000011450

SMART Domains

Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306

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

probably benign
Transcript: ENSMUST00000049197

SMART Domains

Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	64	84	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	171	190	N/A	INTRINSIC
Pfam:DUF2781	216	357	4e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110160

SMART Domains

Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	64	84	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	171	190	N/A	INTRINSIC
Pfam:DUF2781	218	357	1.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211808

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	A	T	X: 81,419,711	Y797N	possibly damaging	Het
Actbl2	G	A	13: 111,255,572	G147E	probably damaging	Het
Adam18	A	T	8: 24,611,149		probably benign	Het
Ahcyl2	G	A	6: 29,880,557	V175I	probably benign	Het
Alox12	T	A	11: 70,250,085	T375S	probably damaging	Het
Batf2	C	A	19: 6,171,789	Q210K	probably damaging	Het
Bicd1	T	C	6: 149,483,996	S76P	probably damaging	Het
Bphl	A	T	13: 34,063,997	H251L	probably damaging	Het
C130074G19Rik	C	A	1: 184,882,746	E82D	probably damaging	Het
Calu	A	T	6: 29,356,585	K39*	probably null	Het
Capns1	T	C	7: 30,192,193	D142G	probably damaging	Het
Ccr8	T	C	9: 120,094,140	V107A	probably damaging	Het
Cep170b	G	A	12: 112,736,444	G447D	possibly damaging	Het
Chat	C	T	14: 32,448,946	V199M	probably damaging	Het
Cntnap1	G	T	11: 101,184,749	V918L	probably damaging	Het
Cyp27a1	A	G	1: 74,732,090	T145A	probably benign	Het
Dgkq	T	A	5: 108,656,421		probably null	Het
Dnhd1	A	G	7: 105,720,741	I4458V	probably benign	Het
Enpp1	T	A	10: 24,660,274	E409D	probably damaging	Het
Fam78b	G	T	1: 167,078,888	L205F	probably damaging	Het
Foxr2	C	A	X: 153,130,681	R183S	probably damaging	Het
Ganc	T	C	2: 120,433,648	S361P	probably damaging	Het
Gfra4	C	A	2: 131,042,640	A15S	possibly damaging	Het
Gm8011	A	T	14: 42,466,000	D145V	unknown	Het
Gnb4	A	G	3: 32,585,223	V307A	probably benign	Het
Hdac4	A	T	1: 92,054,945	V17E	possibly damaging	Het
Herc6	G	A	6: 57,583,333		probably null	Het
Hivep3	A	G	4: 120,132,186	T1945A	probably benign	Het
Ica1l	A	T	1: 60,010,139	N218K	probably damaging	Het
Kmt2b	A	T	7: 30,575,462	L1939Q	probably benign	Het
Lrrc40	G	A	3: 158,041,665		probably benign	Het
March8	C	T	6: 116,403,538	R117C	probably damaging	Het
Megf6	T	C	4: 154,253,777	S327P	probably damaging	Het
Mocos	T	G	18: 24,676,611	C424G	probably damaging	Het
Mrpl50	A	G	4: 49,521,014	W14R	probably benign	Het
Mysm1	A	T	4: 94,975,286	D23E	probably benign	Het
Naa35	T	A	13: 59,586,271	D34E	probably benign	Het
Nid1	A	G	13: 13,482,221	I646V	probably benign	Het
Nupr1	T	C	7: 126,624,901		probably benign	Het
Olfr1449	A	T	19: 12,934,800	I21F	probably benign	Het
Olfr171	G	T	16: 19,624,301	H266Q	probably damaging	Het
Olfr875	T	G	9: 37,773,586	L309R	probably benign	Het
Pcbp2	A	C	15: 102,484,249		probably benign	Het
Pde8b	T	C	13: 95,095,648	Q158R	probably damaging	Het
Pdzd8	T	C	19: 59,300,859	Y703C	probably damaging	Het
Plxnb3	T	C	X: 73,765,283	S885P	probably benign	Het
Poc1b	T	A	10: 99,144,314	C136S	probably damaging	Het
Pole2	T	C	12: 69,209,875	D292G	probably damaging	Het
Prpf39	T	C	12: 65,042,779	V97A	probably benign	Het
Rbbp8	T	A	18: 11,705,812	H183Q	possibly damaging	Het
Scn2a	C	T	2: 65,701,844	T600M	possibly damaging	Het
Spata32	T	C	11: 103,208,803	Q292R	possibly damaging	Het
Sult3a1	A	C	10: 33,877,273		probably benign	Het
Tpm3-rs7	C	T	14: 113,315,378	Q235*	probably null	Het
Trbv2	A	T	6: 41,047,751	T34S	possibly damaging	Het
Tssk6	A	G	8: 69,902,885	Y193C	probably benign	Het
Ttn	T	C	2: 76,708,458	K34676R	possibly damaging	Het
Ugt3a2	T	C	15: 9,370,068	Y433H	probably damaging	Het
Wdhd1	T	C	14: 47,241,644	K1072E	possibly damaging	Het

Other mutations in Sugp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02345:Sugp1	APN	8	70043084	unclassified	probably benign
IGL02532:Sugp1	APN	8	70059819	missense	possibly damaging	0.91
IGL02887:Sugp1	APN	8	70070126	missense	probably damaging	1.00
IGL02962:Sugp1	APN	8	70059862	splice site	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

2015-12-18