Mutagenetix > Incidental Mutation

Incidental Mutation 'R5240:Sugp2'

400729

Institutional Source

Beutler Lab

Gene Symbol

Sugp2

Ensembl Gene

ENSMUSG00000036054

Gene Name

SURP and G patch domain containing 2

Synonyms

Srsf14, Sfrs14

MMRRC Submission

042811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5240 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70686838-70715755 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70695925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 299 (L299F)

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
AA Change: L299F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054
AA Change: L299F

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
AA Change: L299F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054
AA Change: L299F

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: ENSMUST00000135640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136758

Predicted Effect

probably benign
Transcript: ENSMUST00000145078

SMART Domains

Protein: ENSMUSP00000114403
Gene: ENSMUSG00000036054

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
AA Change: L299F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054
AA Change: L299F

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	C	3: 59,659,449 (GRCm39)	T301P	probably damaging	Het
Cdc42bpg	T	G	19: 6,365,929 (GRCm39)	L786R	probably damaging	Het
Cfap73	C	T	5: 120,767,772 (GRCm39)	V260I	probably damaging	Het
Chchd10	A	T	10: 75,773,283 (GRCm39)	N131I	probably damaging	Het
Chn2	T	C	6: 54,197,680 (GRCm39)	V190A	probably benign	Het
Clec2l	C	T	6: 38,650,387 (GRCm39)	T64I	probably damaging	Het
Cpeb3	T	A	19: 37,151,915 (GRCm39)	T154S	probably damaging	Het
D130043K22Rik	A	G	13: 25,061,960 (GRCm39)	E643G	probably damaging	Het
Ddx31	A	G	2: 28,736,042 (GRCm39)	M127V	probably benign	Het
Dennd1b	A	G	1: 138,990,615 (GRCm39)	Y193C	probably damaging	Het
Dgke	T	A	11: 88,941,511 (GRCm39)	D288V	probably damaging	Het
Dst	T	A	1: 34,247,639 (GRCm39)	L1683*	probably null	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
E130116L18Rik	G	T	5: 25,428,018 (GRCm39)		probably benign	Het
Eif2b5	G	A	16: 20,320,148 (GRCm39)	V115I	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fgfr3	A	T	5: 33,887,382 (GRCm39)	T234S	probably damaging	Het
Gipc2	A	T	3: 151,808,299 (GRCm39)	D251E	possibly damaging	Het
Gm11787	A	C	4: 3,511,810 (GRCm39)		noncoding transcript	Het
Haus6	A	G	4: 86,501,415 (GRCm39)	Y819H	possibly damaging	Het
Homez	G	A	14: 55,095,531 (GRCm39)	A59V	probably damaging	Het
Iffo1	T	C	6: 125,129,423 (GRCm39)	V363A	probably benign	Het
Ifit2	T	A	19: 34,551,796 (GRCm39)	D445E	probably benign	Het
Ipo9	A	C	1: 135,317,344 (GRCm39)		probably benign	Het
Kcnv1	C	T	15: 44,976,640 (GRCm39)	G216R	probably damaging	Het
Kdm6b	A	C	11: 69,292,730 (GRCm39)		probably benign	Het
Mplkip	T	C	13: 17,870,304 (GRCm39)	S79P	probably damaging	Het
Nae1	T	C	8: 105,249,776 (GRCm39)		probably benign	Het
Nfe2l2	A	T	2: 75,506,353 (GRCm39)	N582K	possibly damaging	Het
Nsmce4a	G	A	7: 130,138,754 (GRCm39)	R297C	probably damaging	Het
Or1e1f	T	C	11: 73,855,632 (GRCm39)	L66P	probably damaging	Het
Or3a1d	T	A	11: 74,238,068 (GRCm39)	D114V	probably damaging	Het
Or5p70	A	T	7: 107,994,909 (GRCm39)	D194V	probably damaging	Het
Osbp	T	A	19: 11,955,654 (GRCm39)	F357I	probably damaging	Het
Pcdhb4	A	G	18: 37,442,979 (GRCm39)	D763G	possibly damaging	Het
Pcdhgb2	A	C	18: 37,824,103 (GRCm39)	I365L	possibly damaging	Het
Pde6g	A	G	11: 120,338,912 (GRCm39)		probably benign	Het
Pigo	C	A	4: 43,020,675 (GRCm39)	V756L	possibly damaging	Het
Pkhd1	G	T	1: 20,345,865 (GRCm39)	T2721K	probably benign	Het
Pls1	A	T	9: 95,658,675 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,519,397 (GRCm39)		probably benign	Het
Prkd2	T	A	7: 16,589,711 (GRCm39)	I471N	probably benign	Het
Prrc2b	C	T	2: 32,096,408 (GRCm39)	T593I	probably benign	Het
Ptch2	C	A	4: 116,963,335 (GRCm39)		probably benign	Het
Pth	A	T	7: 112,985,051 (GRCm39)	D107E	probably damaging	Het
Pycr2	A	C	1: 180,735,188 (GRCm39)	Q315P	probably benign	Het
Rbpj	A	T	5: 53,806,782 (GRCm39)	Y209F	probably damaging	Het
Ripk4	C	A	16: 97,544,967 (GRCm39)	R560L	probably damaging	Het
Sdr42e1	T	C	8: 118,390,021 (GRCm39)	R207G	probably benign	Het
Sipa1l1	A	G	12: 82,388,362 (GRCm39)	Y196C	possibly damaging	Het
Smarcc2	T	C	10: 128,316,875 (GRCm39)		probably null	Het
Stom	T	A	2: 35,226,889 (GRCm39)	I15F	probably benign	Het
Tbrg4	A	T	11: 6,567,516 (GRCm39)		probably null	Het
Tkt	G	T	14: 30,287,635 (GRCm39)	G210C	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,771,854 (GRCm39)	I98T	probably benign	Het
Unc5b	A	G	10: 60,610,419 (GRCm39)	I466T	probably damaging	Het
Unc79	T	A	12: 103,037,010 (GRCm39)	F599L	probably damaging	Het
Vav1	G	A	17: 57,604,122 (GRCm39)	E151K	probably damaging	Het
Vcan	T	G	13: 89,840,651 (GRCm39)	D1631A	probably benign	Het
Vmn2r4	A	C	3: 64,314,358 (GRCm39)	S208A	possibly damaging	Het
Zfp619	A	G	7: 39,186,642 (GRCm39)	T891A	possibly damaging	Het
Zfp672	A	G	11: 58,220,527 (GRCm39)		probably benign	Het
Znhit1	T	A	5: 137,011,235 (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
R5279:Sugp2	UTSW	8	70,709,757 (GRCm39)	intron	probably benign
R5303:Sugp2	UTSW	8	70,694,827 (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'- CAAAGGGTGTTGGGAAGCTTATC -3'
(R):5'- CATTTGAAGGAGGCCAGCATC -3'

Sequencing Primer
(F):5'- TGTTGGGAAGCTTATCACACTG -3'
(R):5'- AGCATCTTGGCACAGGTCTCAG -3'

Posted On

2016-07-06