Mutagenetix > Incidental Mutation

Incidental Mutation 'R7219:U2surp'

561669

Institutional Source

Beutler Lab

Gene Symbol

U2surp

Ensembl Gene

ENSMUSG00000032407

Gene Name

U2 snRNP-associated SURP domain containing

Synonyms

2610101N10Rik

MMRRC Submission

045291-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95338951-95394049 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 95372215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 316 (R316*)

Ref Sequence

ENSEMBL: ENSMUSP00000078602 (fasta)

Gene Model

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

AlphaFold

Q6NV83

Predicted Effect

probably null
Transcript: ENSMUST00000078374
AA Change: R272*

SMART Domains

Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: R272*

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: R316*

SMART Domains

Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: R316*

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: R316*

SMART Domains

Protein: ENSMUSP00000140614
Gene: ENSMUSG00000032407
AA Change: R316*

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: R315*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,508 (GRCm39)	S300P	unknown	Het
Abhd17a	T	A	10: 80,420,008 (GRCm39)	K226*	probably null	Het
Alkbh7	T	A	17: 57,305,508 (GRCm39)	H108Q	probably damaging	Het
Ankrd44	A	C	1: 54,806,069 (GRCm39)	H112Q	probably damaging	Het
Capn3	A	G	2: 120,333,935 (GRCm39)	E790G	probably damaging	Het
Cd47	C	A	16: 49,728,440 (GRCm39)	N330K	possibly damaging	Het
Cd55	A	G	1: 130,390,343 (GRCm39)	S22P	possibly damaging	Het
Cdc25a	A	G	9: 109,718,154 (GRCm39)	I373V	probably damaging	Het
Cfap43	T	C	19: 47,779,912 (GRCm39)	I514V	probably benign	Het
Cfap73	A	T	5: 120,768,200 (GRCm39)	M186K	probably benign	Het
Chd9	A	G	8: 91,728,394 (GRCm39)	D1270G	unknown	Het
Ciita	A	G	16: 10,330,121 (GRCm39)	T802A	probably benign	Het
Dlgap2	A	G	8: 14,793,296 (GRCm39)	E430G	probably benign	Het
Dlx1	C	A	2: 71,360,513 (GRCm39)	S59*	probably null	Het
Dnaaf3	T	C	7: 4,531,076 (GRCm39)	N119S	probably damaging	Het
Dnah11	T	G	12: 118,004,830 (GRCm39)	I2164L	possibly damaging	Het
Dnah11	T	C	12: 118,090,624 (GRCm39)	K1079R	probably benign	Het
Dnah12	C	T	14: 26,576,837 (GRCm39)	T3029I	probably damaging	Het
Dppa3	A	T	6: 122,606,918 (GRCm39)	Y136F	probably damaging	Het
Enox1	T	A	14: 77,958,284 (GRCm39)	M611K	probably benign	Het
Fam149a	A	T	8: 45,803,600 (GRCm39)	I378N	possibly damaging	Het
Farp2	T	C	1: 93,488,040 (GRCm39)	F89S	probably damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Frs3	A	G	17: 48,013,620 (GRCm39)	T181A	probably damaging	Het
Heatr4	T	A	12: 84,004,644 (GRCm39)	I726F	possibly damaging	Het
Ighg1	T	G	12: 113,290,216 (GRCm39)	E375A		Het
Ikzf4	G	T	10: 128,470,252 (GRCm39)	Q476K	possibly damaging	Het
Kcnh1	G	T	1: 192,187,945 (GRCm39)	C829F	probably benign	Het
Krtap19-4	T	C	16: 88,681,797 (GRCm39)	Y53C	unknown	Het
Loricrin	C	A	3: 91,988,705 (GRCm39)	G194C	unknown	Het
Lrp1	A	C	10: 127,393,097 (GRCm39)	D2720E	probably benign	Het
Lrp4	A	G	2: 91,322,368 (GRCm39)	Y1068C	probably damaging	Het
Mbnl1	A	G	3: 60,511,244 (GRCm39)	N67D	probably benign	Het
Mrpl21	A	G	19: 3,336,998 (GRCm39)	E123G	probably benign	Het
Mst1	A	T	9: 107,958,485 (GRCm39)	D65V	probably damaging	Het
Myo15b	T	A	11: 115,767,921 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,028,052 (GRCm39)	Y79C	probably damaging	Het
Oas1c	A	T	5: 120,940,957 (GRCm39)	W279R	probably damaging	Het
Or4f4-ps1	A	T	2: 111,330,532 (GRCm39)	M312L	probably benign	Het
Or4k77	A	T	2: 111,199,882 (GRCm39)	I302L	probably benign	Het
Or51f5	A	G	7: 102,430,913 (GRCm39)	I77V	probably benign	Het
Pcdh9	C	T	14: 93,253,216 (GRCm39)	G1149D	possibly damaging	Het
Pcid2	G	A	8: 13,129,907 (GRCm39)	T283I	probably benign	Het
Pdhx	A	G	2: 102,858,760 (GRCm39)	V348A	probably benign	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmb3	T	A	11: 97,602,023 (GRCm39)	M131K	probably null	Het
Raph1	A	G	1: 60,542,032 (GRCm39)	Y309H	unknown	Het
Rasgrf1	A	G	9: 89,866,341 (GRCm39)	N593S	probably damaging	Het
Rbm38	A	C	2: 172,863,990 (GRCm39)	E53A	possibly damaging	Het
Rufy3	A	G	5: 88,797,715 (GRCm39)	T631A	probably benign	Het
Sbno1	A	T	5: 124,543,722 (GRCm39)	D272E	probably benign	Het
Scamp1	T	A	13: 94,361,415 (GRCm39)	Y207F	probably damaging	Het
Scn8a	T	A	15: 100,866,984 (GRCm39)	S263R	probably damaging	Het
Setbp1	T	G	18: 78,798,960 (GRCm39)	T1407P	probably damaging	Het
Skor2	T	C	18: 76,948,096 (GRCm39)	L606P	possibly damaging	Het
Slc35f6	A	G	5: 30,814,796 (GRCm39)	N241S	probably benign	Het
Slc36a2	T	G	11: 55,059,744 (GRCm39)	D247A	probably benign	Het
Smim10l1	T	A	6: 133,084,895 (GRCm39)	F87L	unknown	Het
Son	T	C	16: 91,461,889 (GRCm39)	S2265P	unknown	Het
Spta1	A	G	1: 174,050,203 (GRCm39)	N1748D	probably damaging	Het
Sptbn2	A	G	19: 4,774,201 (GRCm39)	D84G	probably damaging	Het
Tasor2	T	A	13: 3,640,521 (GRCm39)	L205F	probably damaging	Het
Tbc1d24	G	A	17: 24,404,266 (GRCm39)	R293C	probably damaging	Het
Tex15	A	G	8: 34,036,268 (GRCm39)	T65A	probably benign	Het
Thyn1	A	G	9: 26,916,506 (GRCm39)	Y97C	probably damaging	Het
Tmem64	T	C	4: 15,266,700 (GRCm39)	L250P	probably damaging	Het
Tnfrsf9	A	T	4: 151,019,991 (GRCm39)	K217N	probably damaging	Het
Tnxb	A	G	17: 34,898,039 (GRCm39)	T896A	probably benign	Het
Trpm1	T	A	7: 63,854,333 (GRCm39)	I285N	possibly damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
Ubr2	G	T	17: 47,246,360 (GRCm39)	S1618*	probably null	Het
Ugp2	T	C	11: 21,273,271 (GRCm39)	I449M	probably damaging	Het
Umodl1	A	G	17: 31,201,236 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,105 (GRCm39)	V538I	probably benign	Het
Vmn2r31	A	T	7: 7,397,397 (GRCm39)	M287K	probably damaging	Het
Wwc2	A	G	8: 48,311,919 (GRCm39)	V748A	unknown	Het
Zfp800	A	C	6: 28,243,662 (GRCm39)	H434Q	probably benign	Het
Zfp869	A	G	8: 70,159,356 (GRCm39)	C406R	probably damaging	Het
Zhx1	A	G	15: 57,917,733 (GRCm39)	V171A	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
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
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'- GGTTACTTTGACAAGCTCCAGAG -3'
(R):5'- AAATGCACCAGTATGGCAGG -3'

Sequencing Primer
(F):5'- TACTTTGACAAGCTCCAGAGAAAAAG -3'
(R):5'- AAAAATGATTTTGCTTTCTGGGTTGC -3'

Posted On

2019-06-26