Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03200:U2surp'

412942

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

U2surp

Ensembl Gene

ENSMUSG00000032407

Gene Name

U2 snRNP-associated SURP domain containing

Synonyms

2610101N10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

IGL03200

Quality Score

Status

Chromosome

Chromosomal Location

95338951-95394049 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 95373444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 242 (R242*)

Ref Sequence

ENSEMBL: ENSMUSP00000151121 (fasta)

Gene Model

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

AlphaFold

Q6NV83

Predicted Effect

probably null
Transcript: ENSMUST00000078374
AA Change: R198*

SMART Domains

Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: R198*

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 null
Transcript: ENSMUST00000079659
AA Change: R242*

SMART Domains

Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: R242*

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: ENSMUST00000185515

Predicted Effect

probably benign
Transcript: ENSMUST00000190019

Predicted Effect

probably null
Transcript: ENSMUST00000191213
AA Change: R242*

SMART Domains

Protein: ENSMUSP00000140614
Gene: ENSMUSG00000032407
AA Change: R242*

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 null
Transcript: ENSMUST00000217176
AA Change: R242*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,928,989 (GRCm39)		probably benign	Het
Degs1	A	T	1: 182,107,256 (GRCm39)	M1K	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
H2-M10.6	G	A	17: 37,124,908 (GRCm39)	G275E	probably damaging	Het
Itga8	C	T	2: 12,196,010 (GRCm39)	V647I	probably benign	Het
Kcnip2	T	G	19: 45,782,502 (GRCm39)	K190Q	probably damaging	Het
Mbd1	T	G	18: 74,409,502 (GRCm39)	S251A	probably benign	Het
Mcpt9	T	A	14: 56,264,390 (GRCm39)	H235L	probably benign	Het
Ndst1	A	T	18: 60,832,611 (GRCm39)	I573N	possibly damaging	Het
Ntan1	C	T	16: 13,652,591 (GRCm39)	P229L	probably damaging	Het
Rbl2	T	C	8: 91,823,395 (GRCm39)	I441T	probably benign	Het
Spmap2l	T	A	5: 77,208,711 (GRCm39)	V413D	possibly damaging	Het
Sulf1	C	T	1: 12,856,841 (GRCm39)	R31*	probably null	Het
Taok1	G	A	11: 77,466,478 (GRCm39)	Q124*	probably null	Het
Tmem140	A	G	6: 34,849,814 (GRCm39)	E110G	possibly damaging	Het
Ywhag	G	A	5: 135,939,914 (GRCm39)	R227*	probably null	Het
Zfp456	C	T	13: 67,514,596 (GRCm39)	R370H	probably benign	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
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
R4995:U2surp	UTSW	9	95,344,847 (GRCm39)	utr 3 prime	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

Posted On

2016-08-02