Incidental Mutation 'R0682:U2surp'
ID 61022
Institutional Source Beutler Lab
Gene Symbol U2surp
Ensembl Gene ENSMUSG00000032407
Gene Name U2 snRNP-associated SURP domain containing
Synonyms 2610101N10Rik
MMRRC Submission 038867-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R0682 (G1)
Quality Score 112
Status Not validated
Chromosome 9
Chromosomal Location 95338951-95394049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95366496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 470 (V470I)
Ref Sequence ENSEMBL: ENSMUSP00000151121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078374] [ENSMUST00000079659] [ENSMUST00000191213] [ENSMUST00000217176]
AlphaFold Q6NV83
Predicted Effect probably benign
Transcript: ENSMUST00000078374
AA Change: V427I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: V427I

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000079659
AA Change: V471I

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: V471I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000217176
AA Change: V470I

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,121,650 (GRCm39) H83R probably benign Het
Abcd3 A C 3: 121,563,216 (GRCm39) I471S possibly damaging Het
Abcg1 G A 17: 31,330,225 (GRCm39) V509I probably benign Het
Adamts9 A T 6: 92,880,783 (GRCm39) N497K possibly damaging Het
Agap2 A G 10: 126,919,351 (GRCm39) S479G unknown Het
Asic2 T C 11: 80,777,506 (GRCm39) I402V possibly damaging Het
Atp1a2 G A 1: 172,112,164 (GRCm39) T577I probably benign Het
Atraid T A 5: 31,209,612 (GRCm39) I92K probably damaging Het
Dpp10 C A 1: 123,832,852 (GRCm39) A31S probably damaging Het
Erich6 A T 3: 58,544,232 (GRCm39) F118L probably benign Het
Galnt18 T C 7: 111,119,222 (GRCm39) Y418C probably damaging Het
Herc1 T A 9: 66,389,263 (GRCm39) C3927S possibly damaging Het
Ifit2 G A 19: 34,551,012 (GRCm39) R184H probably benign Het
Kif24 A T 4: 41,428,620 (GRCm39) N113K probably benign Het
Lrp1b T A 2: 41,185,653 (GRCm39) Y1354F probably benign Het
Muc1 T A 3: 89,138,439 (GRCm39) I427N probably damaging Het
Muc5ac A G 7: 141,359,406 (GRCm39) T1288A possibly damaging Het
Or7g32 C A 9: 19,388,645 (GRCm39) M300I probably benign Het
Or9i14 C T 19: 13,792,501 (GRCm39) C151Y possibly damaging Het
Pex26 T A 6: 121,161,363 (GRCm39) V47E probably damaging Het
Plekhm2 T C 4: 141,355,436 (GRCm39) I871V probably damaging Het
Rasal2 A G 1: 157,006,779 (GRCm39) S111P probably damaging Het
Rnf133 A T 6: 23,649,569 (GRCm39) I163N probably damaging Het
Rrp8 A C 7: 105,383,218 (GRCm39) D349E probably damaging Het
Sdhd G T 9: 50,511,905 (GRCm39) Q38K probably benign Het
Ssh1 C T 5: 114,098,718 (GRCm39) S117N probably damaging Het
Tbc1d2b A G 9: 90,131,915 (GRCm39) M148T probably benign Het
Tnni3k A G 3: 154,645,665 (GRCm39) S470P probably damaging Het
Tnr C T 1: 159,679,877 (GRCm39) Q284* probably null Het
Trim30a A C 7: 104,078,389 (GRCm39) V229G probably damaging Het
Trim43a G A 9: 88,464,199 (GRCm39) E37K probably benign Het
Uck2 T C 1: 167,064,259 (GRCm39) D90G probably damaging Het
Vmn1r229 A T 17: 21,034,950 (GRCm39) E65V probably benign Het
Vmn2r26 A G 6: 124,038,129 (GRCm39) E568G probably damaging Het
Whamm A G 7: 81,235,886 (GRCm39) E363G probably damaging Het
Wrap53 A G 11: 69,453,272 (GRCm39) S390P probably damaging Het
Wrn A G 8: 33,757,848 (GRCm39) S814P probably benign Het
Zfp329 A G 7: 12,544,211 (GRCm39) C438R probably damaging Het
Zkscan8 T C 13: 21,710,930 (GRCm39) Y60C probably damaging Het
Other mutations in U2surp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GAACATTCGAAAATCTTCTGTCCGCC -3'
(R):5'- ACGTTCAGATTAGCTTGTCAGACAGTC -3'

Sequencing Primer
(F):5'- CGCCATTTCGTTGGAGAATC -3'
(R):5'- TAGAAGATGAGAGGACCCTTTCTCC -3'
Posted On 2013-07-30