Mutagenetix > Incidental Mutation

Incidental Mutation 'R4995:U2surp'

385186

Institutional Source

Beutler Lab

Gene Symbol

U2surp

Ensembl Gene

ENSMUSG00000032407

Gene Name

U2 snRNP-associated SURP domain containing

Synonyms

2610101N10Rik

MMRRC Submission

042589-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R4995 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95338951-95394049 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to C at 95344847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140614 (fasta)

Gene Model

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

AlphaFold

Q6NV83

Predicted Effect

unknown
Transcript: ENSMUST00000078374
AA Change: S910A

SMART Domains

Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: S910A

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

unknown
Transcript: ENSMUST00000079659
AA Change: S954A

SMART Domains

Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: S954A

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

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

unknown
Transcript: ENSMUST00000217176
AA Change: S953A

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	A	2: 19,498,995 (GRCm39)	Q333*	probably null	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acvrl1	G	A	15: 101,033,741 (GRCm39)	R141H	probably benign	Het
Adprm	A	G	11: 66,932,436 (GRCm39)	F158L	possibly damaging	Het
Aldoart2	C	T	12: 55,613,038 (GRCm39)	T321M	probably benign	Het
Ap3m2	A	G	8: 23,293,792 (GRCm39)	V86A	probably benign	Het
Arhgef19	T	A	4: 140,974,826 (GRCm39)		probably null	Het
Bcl2l12	T	G	7: 44,643,615 (GRCm39)		probably null	Het
Bptf	T	C	11: 106,945,391 (GRCm39)	Q2501R	probably damaging	Het
C230029F24Rik	A	T	1: 49,377,295 (GRCm39)		noncoding transcript	Het
C7	C	T	15: 5,079,074 (GRCm39)	G78D	probably damaging	Het
Caly	T	C	7: 139,650,538 (GRCm39)	T135A	probably benign	Het
Cbl	A	G	9: 44,065,108 (GRCm39)	M740T	possibly damaging	Het
Cbx4	A	G	11: 118,972,037 (GRCm39)	V446A	probably benign	Het
Celsr1	C	A	15: 85,822,112 (GRCm39)	R1735L	probably damaging	Het
Cep250	A	G	2: 155,830,236 (GRCm39)	D135G	probably damaging	Het
Cgn	T	C	3: 94,687,246 (GRCm39)	T19A	probably damaging	Het
Chic2	A	T	5: 75,204,865 (GRCm39)	V32D	probably damaging	Het
Cntln	A	G	4: 84,968,120 (GRCm39)	K780E	probably benign	Het
Col8a2	A	T	4: 126,204,581 (GRCm39)	D197V	probably damaging	Het
Crot	A	T	5: 9,024,000 (GRCm39)	V372E	probably damaging	Het
Cyb561d2	C	T	9: 107,418,747 (GRCm39)	V26M	probably damaging	Het
Ddx5	G	A	11: 106,676,062 (GRCm39)	T237I	probably damaging	Het
Dmxl2	G	T	9: 54,408,725 (GRCm39)		probably benign	Het
Dock8	T	A	19: 25,135,747 (GRCm39)	S1188R	probably benign	Het
Ehbp1	T	A	11: 22,051,073 (GRCm39)	H493L	probably damaging	Het
Eif5b	T	A	1: 38,090,792 (GRCm39)	*1217K	probably null	Het
Eprs1	A	G	1: 185,142,336 (GRCm39)		probably benign	Het
Etfdh	T	C	3: 79,513,095 (GRCm39)	D376G	probably benign	Het
Fam186a	T	C	15: 99,842,980 (GRCm39)	Q1088R	probably benign	Het
Fbxw16	G	T	9: 109,270,318 (GRCm39)	T141N	probably damaging	Het
Fgf11	G	A	11: 69,689,585 (GRCm39)	H138Y	probably damaging	Het
Htra3	T	C	5: 35,828,418 (GRCm39)	E154G	probably damaging	Het
Hydin	T	A	8: 111,296,274 (GRCm39)	V3601D	probably damaging	Het
Jup	G	T	11: 100,270,367 (GRCm39)	S380*	probably null	Het
Klrg1	T	A	6: 122,255,234 (GRCm39)	D66V	probably benign	Het
Llgl1	C	T	11: 60,600,550 (GRCm39)	A633V	probably benign	Het
Lmln	T	A	16: 32,894,467 (GRCm39)	Y203*	probably null	Het
Lrrc58	T	G	16: 37,697,418 (GRCm39)	C165G	probably benign	Het
Lss	T	C	10: 76,383,371 (GRCm39)	V557A	probably benign	Het
Mast4	T	C	13: 103,042,262 (GRCm39)		probably benign	Het
Med13l	C	A	5: 118,869,014 (GRCm39)	P754Q	possibly damaging	Het
Mga	C	T	2: 119,763,063 (GRCm39)	R1240*	probably null	Het
Mgat5b	T	A	11: 116,865,025 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,209 (GRCm39)	D1572G	probably damaging	Het
Muc4	T	A	16: 32,754,214 (GRCm38)	S1363T	probably benign	Het
Muc4	T	A	16: 32,575,332 (GRCm39)	S1306T	probably benign	Het
Myo18b	A	G	5: 112,908,258 (GRCm39)	V2005A	probably damaging	Het
Myo1e	G	A	9: 70,260,554 (GRCm39)	D571N	probably benign	Het
Mypn	T	C	10: 62,955,747 (GRCm39)		probably null	Het
Ndufb10	T	C	17: 24,941,731 (GRCm39)		probably null	Het
Nelfb	G	T	2: 25,096,208 (GRCm39)	D300E	probably benign	Het
Nicol1	G	A	5: 34,142,270 (GRCm39)	R79H	probably damaging	Het
Odad2	G	A	18: 7,223,663 (GRCm39)	T460M	probably damaging	Het
Or2y1d	T	A	11: 49,321,482 (GRCm39)	Y60N	probably damaging	Het
Or4e5	A	T	14: 52,727,988 (GRCm39)	C61*	probably null	Het
Or52n2c	T	A	7: 104,574,942 (GRCm39)	T10S	probably benign	Het
Or52z15	T	A	7: 103,332,574 (GRCm39)	D206E	probably damaging	Het
Pcdha11	C	T	18: 37,144,080 (GRCm39)	T57M	probably benign	Het
Pkp1	A	T	1: 135,808,593 (GRCm39)	I458N	possibly damaging	Het
Prr12	T	A	7: 44,700,653 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,532,879 (GRCm39)		probably benign	Het
Psd4	T	C	2: 24,287,259 (GRCm39)	F397S	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rfx1	T	A	8: 84,806,743 (GRCm39)		probably null	Het
Rsl1	A	G	13: 67,330,313 (GRCm39)	T254A	possibly damaging	Het
Sh3rf3	A	G	10: 58,922,646 (GRCm39)	Q574R	probably benign	Het
Spire1	T	C	18: 67,685,849 (GRCm39)		probably null	Het
St6galnac4	G	A	2: 32,484,075 (GRCm39)	G91D	probably damaging	Het
Sytl2	T	C	7: 90,031,465 (GRCm39)		probably benign	Het
Tbpl2	T	A	2: 23,983,872 (GRCm39)	K188N	possibly damaging	Het
Tenm3	A	T	8: 48,682,172 (GRCm39)	M2486K	possibly damaging	Het
Tgoln1	A	C	6: 72,593,123 (GRCm39)	V119G	possibly damaging	Het
Tpgs1	A	T	10: 79,505,325 (GRCm39)	N28Y	probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Vmn2r19	A	G	6: 123,306,869 (GRCm39)	N459S	probably benign	Het
Vmn2r72	T	C	7: 85,387,693 (GRCm39)	S624G	probably damaging	Het
Vps13c	A	G	9: 67,826,603 (GRCm39)	T1415A	probably benign	Het
Vwa5b1	G	A	4: 138,336,154 (GRCm39)	P147S	probably damaging	Het

Other mutations in U2surp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:U2surp	APN	9	95,343,577 (GRCm39)	utr 3 prime	probably benign
IGL01122:U2surp	APN	9	95,372,287 (GRCm39)	missense	probably benign	0.02
IGL01985:U2surp	APN	9	95,372,279 (GRCm39)	missense	probably damaging	1.00
IGL01992:U2surp	APN	9	95,364,234 (GRCm39)	missense	probably damaging	0.99
IGL01992:U2surp	APN	9	95,346,472 (GRCm39)	missense	possibly damaging	0.46
IGL02300:U2surp	APN	9	95,370,823 (GRCm39)	missense	probably damaging	1.00
IGL02491:U2surp	APN	9	95,372,273 (GRCm39)	missense	probably damaging	0.98
IGL02503:U2surp	APN	9	95,384,622 (GRCm39)	missense	probably benign	0.03
IGL02615:U2surp	APN	9	95,375,284 (GRCm39)	missense	probably benign	0.00
IGL02628:U2surp	APN	9	95,354,143 (GRCm39)	missense	possibly damaging	0.89
IGL02682:U2surp	APN	9	95,363,704 (GRCm39)	critical splice donor site	probably null
IGL02721:U2surp	APN	9	95,356,488 (GRCm39)	missense	probably benign	0.10
IGL03200:U2surp	APN	9	95,373,444 (GRCm39)	nonsense	probably null
coup	UTSW	9	95,359,565 (GRCm39)	missense	probably damaging	1.00
R0095:U2surp	UTSW	9	95,382,737 (GRCm39)	splice site	probably null
R0373:U2surp	UTSW	9	95,366,496 (GRCm39)	missense	probably benign	0.08
R0376:U2surp	UTSW	9	95,366,496 (GRCm39)	missense	probably benign	0.08
R0377:U2surp	UTSW	9	95,366,496 (GRCm39)	missense	probably benign	0.08
R0416:U2surp	UTSW	9	95,367,660 (GRCm39)	missense	probably damaging	1.00
R0682:U2surp	UTSW	9	95,366,496 (GRCm39)	missense	probably benign	0.08
R0948:U2surp	UTSW	9	95,343,550 (GRCm39)	utr 3 prime	probably benign
R1420:U2surp	UTSW	9	95,344,856 (GRCm39)	missense	probably benign	0.33
R1474:U2surp	UTSW	9	95,375,251 (GRCm39)	missense	possibly damaging	0.49
R1555:U2surp	UTSW	9	95,348,630 (GRCm39)	missense	probably damaging	1.00
R1597:U2surp	UTSW	9	95,363,793 (GRCm39)	splice site	probably benign
R1638:U2surp	UTSW	9	95,366,280 (GRCm39)	missense	possibly damaging	0.95
R1693:U2surp	UTSW	9	95,393,913 (GRCm39)	start codon destroyed	probably null	0.53
R1851:U2surp	UTSW	9	95,364,150 (GRCm39)	nonsense	probably null
R2271:U2surp	UTSW	9	95,373,473 (GRCm39)	missense	possibly damaging	0.80
R2679:U2surp	UTSW	9	95,358,285 (GRCm39)	missense	possibly damaging	0.82
R2851:U2surp	UTSW	9	95,382,735 (GRCm39)	splice site	probably null
R3769:U2surp	UTSW	9	95,375,750 (GRCm39)	splice site	probably benign
R4596:U2surp	UTSW	9	95,367,681 (GRCm39)	missense	probably damaging	1.00
R4672:U2surp	UTSW	9	95,375,198 (GRCm39)	missense	possibly damaging	0.83
R4763:U2surp	UTSW	9	95,393,844 (GRCm39)	intron	probably benign
R5805:U2surp	UTSW	9	95,361,357 (GRCm39)	missense	possibly damaging	0.51
R6006:U2surp	UTSW	9	95,361,360 (GRCm39)	missense	probably damaging	0.96
R6249:U2surp	UTSW	9	95,382,869 (GRCm39)	missense	probably benign	0.07
R6260:U2surp	UTSW	9	95,358,210 (GRCm39)	missense	probably damaging	0.99
R6378:U2surp	UTSW	9	95,373,474 (GRCm39)	missense	probably benign	0.41
R6487:U2surp	UTSW	9	95,359,565 (GRCm39)	missense	probably damaging	1.00
R6585:U2surp	UTSW	9	95,354,124 (GRCm39)	missense	probably damaging	1.00
R6721:U2surp	UTSW	9	95,373,157 (GRCm39)	missense	probably damaging	0.99
R6760:U2surp	UTSW	9	95,375,764 (GRCm39)	missense	probably benign	0.27
R7065:U2surp	UTSW	9	95,367,712 (GRCm39)	missense	probably benign	0.01
R7167:U2surp	UTSW	9	95,363,726 (GRCm39)	missense	probably damaging	0.98
R7219:U2surp	UTSW	9	95,372,215 (GRCm39)	nonsense	probably null
R7232:U2surp	UTSW	9	95,375,770 (GRCm39)	missense	probably benign	0.03
R7460:U2surp	UTSW	9	95,344,877 (GRCm39)	missense	unknown
R7547:U2surp	UTSW	9	95,361,402 (GRCm39)	missense	possibly damaging	0.94
R7609:U2surp	UTSW	9	95,367,732 (GRCm39)	splice site	probably null
R7761:U2surp	UTSW	9	95,370,814 (GRCm39)	missense	probably damaging	1.00
R8520:U2surp	UTSW	9	95,384,607 (GRCm39)	missense	possibly damaging	0.88
R9059:U2surp	UTSW	9	95,363,716 (GRCm39)	missense	probably damaging	1.00
R9065:U2surp	UTSW	9	95,359,563 (GRCm39)	missense	probably benign
R9124:U2surp	UTSW	9	95,346,468 (GRCm39)	nonsense	probably null
R9266:U2surp	UTSW	9	95,366,468 (GRCm39)	missense	probably damaging	1.00
R9488:U2surp	UTSW	9	95,356,535 (GRCm39)	missense
X0018:U2surp	UTSW	9	95,367,650 (GRCm39)	missense	probably damaging	0.98
X0018:U2surp	UTSW	9	95,357,341 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CCCAAAATAAGAGTGCTATTTCTGC -3'
(R):5'- AGGACAGTCAACGTTGTTGG -3'

Sequencing Primer
(F):5'- ATAAGAGTGCTATTTCTGCTTTTCTC -3'
(R):5'- CAGTCAACGTTGTTGGAAAGTAAC -3'

Posted On

2016-05-10