Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02300:U2surp'

290266

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: 0.956) question?

Stock #

IGL02300

Quality Score

Status

Chromosome

Chromosomal Location

95338951-95394049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95370823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 373 (V373A)

Ref Sequence

ENSEMBL: ENSMUSP00000077482 (fasta)

Gene Model

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

AlphaFold

Q6NV83

Predicted Effect

probably damaging
Transcript: ENSMUST00000078374
AA Change: V373A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: V373A

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 damaging
Transcript: ENSMUST00000079659
AA Change: V417A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: V417A

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 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 damaging
Transcript: ENSMUST00000217176
AA Change: V416A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

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
Amph	T	C	13: 19,270,774 (GRCm39)	F128L	probably damaging	Het
Ccdc65	G	A	15: 98,620,991 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,831,958 (GRCm39)		probably benign	Het
Efcab14	G	T	4: 115,616,093 (GRCm39)		probably null	Het
Frs2	A	T	10: 116,913,496 (GRCm39)	N111K	possibly damaging	Het
Herc1	T	C	9: 66,383,645 (GRCm39)	I3703T	probably benign	Het
Ktn1	T	A	14: 47,927,517 (GRCm39)	M557K	probably damaging	Het
Mib1	G	A	18: 10,741,016 (GRCm39)	C88Y	probably damaging	Het
Or5b121	A	G	19: 13,507,244 (GRCm39)	D113G	probably damaging	Het
Or8k3b	T	C	2: 86,520,996 (GRCm39)	I108V	probably benign	Het
Pclo	A	T	5: 14,763,755 (GRCm39)	Y4076F	unknown	Het
Pdcd11	T	C	19: 47,115,381 (GRCm39)	F1417L	probably benign	Het
Raph1	G	A	1: 60,565,106 (GRCm39)	T127M	possibly damaging	Het
Slc38a10	C	T	11: 120,001,116 (GRCm39)	G568E	probably benign	Het
Timeless	G	A	10: 128,080,676 (GRCm39)	S519N	probably benign	Het
Vmn2r101	A	T	17: 19,832,199 (GRCm39)	I732F	probably damaging	Het
Zfp28	T	C	7: 6,392,495 (GRCm39)	S122P	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
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
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

2015-04-16