Mutagenetix > Incidental Mutation

Incidental Mutation 'R6260:U2surp'

506630

Institutional Source

Beutler Lab

Gene Symbol

U2surp

Ensembl Gene

ENSMUSG00000032407

Gene Name

U2 snRNP-associated SURP domain containing

Synonyms

2610101N10Rik

MMRRC Submission

044377-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95338951-95394049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 95358210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 723 (L723R)

Ref Sequence

ENSEMBL: ENSMUSP00000151121 (fasta)

Gene Model

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

AlphaFold

Q6NV83

Predicted Effect

probably damaging
Transcript: ENSMUST00000078374
AA Change: L680R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: L680R

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: L724R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: L724R

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 damaging
Transcript: ENSMUST00000217176
AA Change: L723R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,844,821 (GRCm39)	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,984,219 (GRCm39)	G650*	probably null	Het
Acsbg1	T	A	9: 54,535,751 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
Ank2	C	T	3: 126,737,206 (GRCm39)	V2806I	probably benign	Het
Atxn10	A	T	15: 85,346,612 (GRCm39)	I457F	probably benign	Het
Cad	G	T	5: 31,224,144 (GRCm39)	M800I	probably null	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Ccz1	A	G	5: 143,940,859 (GRCm39)		probably null	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Cfap52	A	T	11: 67,829,780 (GRCm39)	C330S	possibly damaging	Het
Clec16a	C	T	16: 10,512,712 (GRCm39)		probably benign	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddhd2	A	G	8: 26,242,144 (GRCm39)	F244L	probably benign	Het
Ddn	A	G	15: 98,703,735 (GRCm39)	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,060,583 (GRCm39)	V253L	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Foxd4	A	G	19: 24,876,968 (GRCm39)	S411P	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Galntl6	T	A	8: 58,337,515 (GRCm39)	D135V	probably damaging	Het
Gm1043	G	C	5: 37,331,816 (GRCm39)	G832A	probably benign	Het
Gm21103	C	T	14: 17,484,841 (GRCm39)	E68K	probably damaging	Het
Gpam	A	G	19: 55,071,838 (GRCm39)	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jak3	C	A	8: 72,131,954 (GRCm39)	Q177K	probably benign	Het
Kcnu1	G	A	8: 26,341,919 (GRCm39)	R88H	probably damaging	Het
Kng1	A	T	16: 22,877,371 (GRCm39)	I60F	possibly damaging	Het
Krt77	A	T	15: 101,772,807 (GRCm39)	Y257*	probably null	Het
Lcor	A	T	19: 41,570,809 (GRCm39)	S1C	probably null	Het
Lcor	G	T	19: 41,570,810 (GRCm39)	S1I	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mefv	C	T	16: 3,530,898 (GRCm39)	R498H	probably benign	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,650,536 (GRCm39)	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,256,351 (GRCm39)	C126*	probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Nt5dc3	A	G	10: 86,647,395 (GRCm39)	Y130C	probably damaging	Het
Or2ag1b	A	T	7: 106,288,079 (GRCm39)	N286K	probably damaging	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or6c65	C	A	10: 129,603,389 (GRCm39)	T8K	probably benign	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,049,494 (GRCm39)	I575N	probably benign	Het
Pnma8b	T	G	7: 16,680,158 (GRCm39)	W381G	probably benign	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,231,356 (GRCm39)	G266V	probably damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
St8sia2	T	A	7: 73,626,441 (GRCm39)	R42S	possibly damaging	Het
Syt9	G	T	7: 107,035,717 (GRCm39)	V245F	possibly damaging	Het
Tbpl2	T	A	2: 23,984,898 (GRCm39)	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Timm13	A	C	10: 80,736,135 (GRCm39)		probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ttc27	T	A	17: 75,165,086 (GRCm39)	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,524,076 (GRCm39)	S245*	probably null	Het
Ttc41	A	G	10: 86,567,023 (GRCm39)	E563G	probably benign	Het
Ttc41	A	T	10: 86,569,571 (GRCm39)	T650S	probably benign	Het
Ubqln3	G	A	7: 103,791,524 (GRCm39)	Q189*	probably null	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Vmn2r79	T	A	7: 86,686,365 (GRCm39)	M582K	probably benign	Het
Zfp518a	A	G	19: 40,902,567 (GRCm39)	D832G	probably benign	Het
Zfyve28	T	C	5: 34,356,216 (GRCm39)	N762D	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
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
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'- CTTTGCCACAGTCAAACATATTGC -3'
(R):5'- AGGCTATCTAGTCATGTTGCTC -3'

Sequencing Primer
(F):5'- CACAGTCAAACATATTGCTAGATACC -3'
(R):5'- AGTCATGTTGCTCTGCACTG -3'

Posted On

2018-03-15