Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:U2surp'

250781

Institutional Source

Beutler Lab

Gene Symbol

U2surp

Ensembl Gene

ENSMUSG00000032407

Gene Name

U2 snRNP-associated SURP domain containing

Synonyms

2610101N10Rik

MMRRC Submission

040432-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95456898-95511996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 95476232 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 655 (I655S)

Ref Sequence

ENSEMBL: ENSMUSP00000077482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078374] [ENSMUST00000079659] [ENSMUST00000191213] [ENSMUST00000217176]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078374
AA Change: I655S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: I655S

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
low complexity region	54	75	N/A	INTRINSIC
coiled coil region	148	186	N/A	INTRINSIC
RRM	231	307	1.85e-18	SMART
low complexity region	313	323	N/A	INTRINSIC
SWAP	384	438	1.07e-20	SMART
RPR	493	632	1.42e-41	SMART
internal_repeat_1	648	665	6.09e-7	PROSPERO
internal_repeat_1	678	698	6.09e-7	PROSPERO
coiled coil region	742	769	N/A	INTRINSIC
cwf21	792	843	6.31e-17	SMART
low complexity region	881	933	N/A	INTRINSIC
low complexity region	939	985	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079659
AA Change: I699S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: I699S

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
low complexity region	98	119	N/A	INTRINSIC
coiled coil region	192	230	N/A	INTRINSIC
RRM	275	351	1.85e-18	SMART
low complexity region	357	367	N/A	INTRINSIC
SWAP	428	482	1.07e-20	SMART
RPR	537	676	1.42e-41	SMART
internal_repeat_1	692	709	1.14e-6	PROSPERO
internal_repeat_1	722	742	1.14e-6	PROSPERO
coiled coil region	786	813	N/A	INTRINSIC
cwf21	836	887	6.31e-17	SMART
low complexity region	925	977	N/A	INTRINSIC
low complexity region	983	1029	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186139

Predicted Effect

probably benign
Transcript: ENSMUST00000191213

SMART Domains

Protein: ENSMUSP00000140614
Gene: ENSMUSG00000032407

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
low complexity region	98	119	N/A	INTRINSIC
coiled coil region	192	230	N/A	INTRINSIC
RRM	275	351	7.8e-21	SMART
low complexity region	357	367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217176
AA Change: I698S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.2230

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bpifb4	T	C	2: 153,948,624	I145T	probably damaging	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Egfem1	A	G	3: 29,670,676	T476A	probably benign	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nfat5	A	G	8: 107,344,914	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pgm3	A	C	9: 86,569,321	C93W	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Prkce	A	G	17: 86,176,226		probably benign	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Slc44a4	T	C	17: 34,923,423		probably benign	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Tead1	T	G	7: 112,856,846	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
Trpv4	A	T	5: 114,635,552	C250S	probably damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	probably benign	Het

Other mutations in U2surp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:U2surp	APN	9	95461524	utr 3 prime	probably benign
IGL01122:U2surp	APN	9	95490234	missense	probably benign	0.02
IGL01985:U2surp	APN	9	95490226	missense	probably damaging	1.00
IGL01992:U2surp	APN	9	95464419	missense	possibly damaging	0.46
IGL01992:U2surp	APN	9	95482181	missense	probably damaging	0.99
IGL02300:U2surp	APN	9	95488770	missense	probably damaging	1.00
IGL02491:U2surp	APN	9	95490220	missense	probably damaging	0.98
IGL02503:U2surp	APN	9	95502569	missense	probably benign	0.03
IGL02615:U2surp	APN	9	95493231	missense	probably benign	0.00
IGL02628:U2surp	APN	9	95472090	missense	possibly damaging	0.89
IGL02682:U2surp	APN	9	95481651	critical splice donor site	probably null
IGL02721:U2surp	APN	9	95474435	missense	probably benign	0.10
IGL03200:U2surp	APN	9	95491391	nonsense	probably null
coup	UTSW	9	95477512	missense	probably damaging	1.00
R0095:U2surp	UTSW	9	95500684	splice site	probably null
R0373:U2surp	UTSW	9	95484443	missense	probably benign	0.08
R0376:U2surp	UTSW	9	95484443	missense	probably benign	0.08
R0377:U2surp	UTSW	9	95484443	missense	probably benign	0.08
R0416:U2surp	UTSW	9	95485607	missense	probably damaging	1.00
R0682:U2surp	UTSW	9	95484443	missense	probably benign	0.08
R0948:U2surp	UTSW	9	95461497	utr 3 prime	probably benign
R1420:U2surp	UTSW	9	95462803	missense	probably benign	0.33
R1474:U2surp	UTSW	9	95493198	missense	possibly damaging	0.49
R1555:U2surp	UTSW	9	95466577	missense	probably damaging	1.00
R1597:U2surp	UTSW	9	95481740	splice site	probably benign
R1638:U2surp	UTSW	9	95484227	missense	possibly damaging	0.95
R1693:U2surp	UTSW	9	95511860	start codon destroyed	probably null	0.53
R1851:U2surp	UTSW	9	95482097	nonsense	probably null
R2271:U2surp	UTSW	9	95491420	missense	possibly damaging	0.80
R2851:U2surp	UTSW	9	95500682	splice site	probably null
R3769:U2surp	UTSW	9	95493697	splice site	probably benign
R4596:U2surp	UTSW	9	95485628	missense	probably damaging	1.00
R4672:U2surp	UTSW	9	95493145	missense	possibly damaging	0.83
R4763:U2surp	UTSW	9	95511791	intron	probably benign
R4995:U2surp	UTSW	9	95462794	utr 3 prime	probably benign
R5805:U2surp	UTSW	9	95479304	missense	possibly damaging	0.51
R6006:U2surp	UTSW	9	95479307	missense	probably damaging	0.96
R6249:U2surp	UTSW	9	95500816	missense	probably benign	0.07
R6260:U2surp	UTSW	9	95476157	missense	probably damaging	0.99
R6378:U2surp	UTSW	9	95491421	missense	probably benign	0.41
R6487:U2surp	UTSW	9	95477512	missense	probably damaging	1.00
R6585:U2surp	UTSW	9	95472071	missense	probably damaging	1.00
R6721:U2surp	UTSW	9	95491104	missense	probably damaging	0.99
R6760:U2surp	UTSW	9	95493711	missense	probably benign	0.27
R7065:U2surp	UTSW	9	95485659	missense	probably benign	0.01
R7167:U2surp	UTSW	9	95481673	missense	probably damaging	0.98
R7219:U2surp	UTSW	9	95490162	nonsense	probably null
R7232:U2surp	UTSW	9	95493717	missense	probably benign	0.03
R7460:U2surp	UTSW	9	95462824	missense	unknown
R7547:U2surp	UTSW	9	95479349	missense	possibly damaging	0.94
R7609:U2surp	UTSW	9	95485679	splice site	probably null
R7761:U2surp	UTSW	9	95488761	missense	probably damaging	1.00
R8520:U2surp	UTSW	9	95502554	missense	possibly damaging	0.88
X0018:U2surp	UTSW	9	95475288	missense	probably benign	0.14
X0018:U2surp	UTSW	9	95485597	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGGGATTTTGGCAACTAAACCTG -3'
(R):5'- TCACCATGACTCATATGCTACTTG -3'

Sequencing Primer
(F):5'- CCTGTTAGTCTGAATGTTTAAAGTCC -3'
(R):5'- CATGACTCATATGCTACTTGATCTC -3'

Posted On

2014-12-04