Mutagenetix > Incidental Mutation

Incidental Mutation 'R5303:Sugp2'

404352

Institutional Source

Beutler Lab

Gene Symbol

Sugp2

Ensembl Gene

ENSMUSG00000036054

Gene Name

SURP and G patch domain containing 2

Synonyms

Srsf14, Sfrs14

MMRRC Submission

042886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R5303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70686838-70715755 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 70694827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093458] [ENSMUST00000131489] [ENSMUST00000145078] [ENSMUST00000155771] [ENSMUST00000164403]

AlphaFold

Q8CH09

Predicted Effect

probably benign
Transcript: ENSMUST00000093458

SMART Domains

Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054

Domain	Start	End	E-Value	Type
SWAP	570	622	3.74e-2	SMART
SWAP	768	822	1.12e-14	SMART
low complexity region	859	888	N/A	INTRINSIC
G_patch	994	1040	1.13e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131489

SMART Domains

Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054

Domain	Start	End	E-Value	Type
SWAP	570	622	3.74e-2	SMART
SWAP	768	822	1.12e-14	SMART
low complexity region	859	888	N/A	INTRINSIC
G_patch	994	1040	1.13e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136758

Predicted Effect

unknown
Transcript: ENSMUST00000145078
AA Change: H43Q

SMART Domains

Protein: ENSMUSP00000114403
Gene: ENSMUSG00000036054
AA Change: H43Q

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156330

Predicted Effect

probably benign
Transcript: ENSMUST00000164403

SMART Domains

Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054

Domain	Start	End	E-Value	Type
SWAP	570	622	3.74e-2	SMART
SWAP	768	822	1.12e-14	SMART
low complexity region	859	888	N/A	INTRINSIC
G_patch	994	1040	1.13e-16	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
4921504E06Rik	A	G	2: 19,521,110 (GRCm39)	Y256H	possibly damaging	Het
Abcc12	C	A	8: 87,236,415 (GRCm39)	R1133L	probably benign	Het
Acss3	T	A	10: 106,920,712 (GRCm39)	T133S	possibly damaging	Het
Adra1d	G	A	2: 131,388,169 (GRCm39)	P462L	possibly damaging	Het
Ank2	A	T	3: 126,739,453 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,290,349 (GRCm39)	R1748Q	probably damaging	Het
B3glct	C	T	5: 149,677,488 (GRCm39)		probably benign	Het
C3ar1	A	T	6: 122,826,794 (GRCm39)	S474R	probably damaging	Het
Cd1d1	A	G	3: 86,905,427 (GRCm39)	F189L	probably benign	Het
Cd46	T	C	1: 194,744,707 (GRCm39)	I344V	probably benign	Het
Chrna1	T	C	2: 73,396,618 (GRCm39)	M426V	probably benign	Het
Cinp	G	A	12: 110,843,295 (GRCm39)	T139M	probably damaging	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,641,329 (GRCm39)		probably benign	Het
Dnaaf6rt	G	A	1: 31,262,537 (GRCm39)	R173H	probably damaging	Het
Eapp	G	A	12: 54,739,703 (GRCm39)	P38L	probably damaging	Het
Eif4g3	T	C	4: 137,853,873 (GRCm39)	S480P	probably benign	Het
Epb41l3	G	C	17: 69,564,444 (GRCm39)	E390Q	probably damaging	Het
Fermt1	T	C	2: 132,753,259 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,463 (GRCm39)	F134Y	possibly damaging	Het
Foxp2	T	A	6: 15,324,636 (GRCm39)	C95S	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gria1	A	G	11: 57,133,851 (GRCm39)	T577A	probably benign	Het
Hal	A	G	10: 93,352,227 (GRCm39)		probably benign	Het
Hdac7	C	A	15: 97,695,899 (GRCm39)	E670D	probably damaging	Het
Islr2	A	T	9: 58,115,558 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,335,663 (GRCm39)	Y2258H	probably benign	Het
Mical3	G	T	6: 120,936,941 (GRCm39)	T1195K	probably benign	Het
Myh1	T	C	11: 67,092,843 (GRCm39)	S46P	probably benign	Het
Mylk3	T	A	8: 86,077,105 (GRCm39)	I444F	probably damaging	Het
Nlrc3	A	T	16: 3,781,478 (GRCm39)	C644S	probably benign	Het
Notch1	C	T	2: 26,368,631 (GRCm39)	V553M	probably benign	Het
Or10g9	A	G	9: 39,911,884 (GRCm39)	I213T	probably damaging	Het
Or4a72	T	A	2: 89,405,345 (GRCm39)	I242F	possibly damaging	Het
Or51a43	T	C	7: 103,718,239 (GRCm39)		probably benign	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Postn	A	G	3: 54,285,018 (GRCm39)	T669A	probably damaging	Het
Ppp5c	G	T	7: 16,739,209 (GRCm39)	Q472K	probably benign	Het
Qsox1	T	C	1: 155,655,039 (GRCm39)	H708R	probably benign	Het
Rhbdl2	A	G	4: 123,704,014 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,767,907 (GRCm39)	E2884K	probably damaging	Het
Saysd1	T	C	14: 20,133,026 (GRCm39)	T44A	probably benign	Het
Septin14	T	A	5: 129,766,712 (GRCm39)	M290L	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc38a8	C	A	8: 120,212,780 (GRCm39)	V294L	possibly damaging	Het
Spdye4b	C	T	5: 143,188,158 (GRCm39)	T217I	probably benign	Het
Syne1	T	C	10: 5,370,464 (GRCm39)	T232A	probably benign	Het
Tbc1d5	A	T	17: 51,043,228 (GRCm39)	D753E	probably benign	Het
Tmed1	G	T	9: 21,421,343 (GRCm39)	Q44K	possibly damaging	Het
Ttc6	T	A	12: 57,622,606 (GRCm39)	S2T	possibly damaging	Het
Ube4b	T	C	4: 149,468,260 (GRCm39)	D172G	probably damaging	Het
Vmn1r235	C	A	17: 21,482,268 (GRCm39)	Q198K	probably benign	Het
Wdfy3	T	C	5: 102,100,849 (GRCm39)	H256R	probably damaging	Het
Zfat	A	T	15: 67,982,335 (GRCm39)	H1059Q	probably damaging	Het
Zfp758	A	G	17: 22,593,842 (GRCm39)	I77M	probably benign	Het
Zfp850	C	T	7: 27,707,838 (GRCm39)	A2T	probably damaging	Het
Zfyve1	A	T	12: 83,621,830 (GRCm39)	N188K	probably damaging	Het
Zyg11a	C	T	4: 108,041,629 (GRCm39)		probably null	Het

Other mutations in Sugp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Sugp2	APN	8	70,695,185 (GRCm39)	missense	probably damaging	1.00
IGL01126:Sugp2	APN	8	70,704,524 (GRCm39)	missense	probably damaging	1.00
IGL01154:Sugp2	APN	8	70,695,349 (GRCm39)	missense	probably damaging	1.00
IGL02037:Sugp2	APN	8	70,712,324 (GRCm39)	splice site	probably benign
IGL02401:Sugp2	APN	8	70,695,821 (GRCm39)	missense	possibly damaging	0.75
IGL02738:Sugp2	APN	8	70,696,449 (GRCm39)	missense	probably damaging	1.00
IGL03060:Sugp2	APN	8	70,695,837 (GRCm39)	missense	possibly damaging	0.89
PIT4687001:Sugp2	UTSW	8	70,710,162 (GRCm39)	missense	probably damaging	0.96
PIT4791001:Sugp2	UTSW	8	70,713,195 (GRCm39)	nonsense	probably null
R0538:Sugp2	UTSW	8	70,711,598 (GRCm39)	missense	probably damaging	1.00
R1459:Sugp2	UTSW	8	70,696,714 (GRCm39)	splice site	probably benign
R1687:Sugp2	UTSW	8	70,695,284 (GRCm39)	missense	probably damaging	1.00
R1801:Sugp2	UTSW	8	70,689,360 (GRCm39)	missense	possibly damaging	0.86
R1914:Sugp2	UTSW	8	70,706,310 (GRCm39)	missense	probably damaging	0.98
R1915:Sugp2	UTSW	8	70,706,310 (GRCm39)	missense	probably damaging	0.98
R2004:Sugp2	UTSW	8	70,695,306 (GRCm39)	splice site	probably null
R2012:Sugp2	UTSW	8	70,695,861 (GRCm39)	missense	possibly damaging	0.78
R4584:Sugp2	UTSW	8	70,704,548 (GRCm39)	missense	probably benign	0.13
R4791:Sugp2	UTSW	8	70,695,440 (GRCm39)	missense	probably damaging	1.00
R4970:Sugp2	UTSW	8	70,712,462 (GRCm39)	missense	possibly damaging	0.94
R5101:Sugp2	UTSW	8	70,713,139 (GRCm39)	missense	probably damaging	1.00
R5240:Sugp2	UTSW	8	70,695,925 (GRCm39)	missense	probably benign	0.00
R5279:Sugp2	UTSW	8	70,709,757 (GRCm39)	intron	probably benign
R5966:Sugp2	UTSW	8	70,704,753 (GRCm39)	critical splice donor site	probably null
R5988:Sugp2	UTSW	8	70,695,875 (GRCm39)	missense	probably benign
R6615:Sugp2	UTSW	8	70,695,420 (GRCm39)	missense	possibly damaging	0.92
R7382:Sugp2	UTSW	8	70,695,494 (GRCm39)	missense	probably benign	0.02
R7803:Sugp2	UTSW	8	70,704,722 (GRCm39)	missense	probably benign
R7908:Sugp2	UTSW	8	70,704,577 (GRCm39)	missense	probably benign	0.08
R8013:Sugp2	UTSW	8	70,704,292 (GRCm39)	missense	probably damaging	0.98
R8350:Sugp2	UTSW	8	70,695,641 (GRCm39)	nonsense	probably null
R9716:Sugp2	UTSW	8	70,712,370 (GRCm39)	missense	probably damaging	1.00
R9787:Sugp2	UTSW	8	70,695,428 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGATGCAGGTACAAGTTTCCC -3'
(R):5'- GGTGTGAGGTGCAAACAATC -3'

Sequencing Primer
(F):5'- AAGTTTCCCATGTATTTTTACTCTGG -3'
(R):5'- GCTTAGTGCTTACCATGCAAG -3'

Posted On

2016-07-22