Incidental Mutation 'IGL02628:U2surp'
ID 301161
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 # IGL02628
Quality Score
Status
Chromosome 9
Chromosomal Location 95338951-95394049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95354143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 832 (Y832H)
Ref Sequence ENSEMBL: ENSMUSP00000151121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078374] [ENSMUST00000079659] [ENSMUST00000191213] [ENSMUST00000217176]
AlphaFold Q6NV83
Predicted Effect possibly damaging
Transcript: ENSMUST00000078374
AA Change: Y789H

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: Y789H

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 possibly damaging
Transcript: ENSMUST00000079659
AA Change: Y833H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: Y833H

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 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 possibly damaging
Transcript: ENSMUST00000217176
AA Change: Y832H

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 T A 12: 71,001,430 (GRCm39) probably null Het
Ankhd1 T C 18: 36,780,756 (GRCm39) V1936A probably benign Het
Ap3m1 C A 14: 21,095,588 (GRCm39) E81* probably null Het
Camkk1 T C 11: 72,919,995 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cmc1 A G 9: 117,894,376 (GRCm39) Y33H probably damaging Het
Cntnap5b A T 1: 99,999,794 (GRCm39) D184V probably damaging Het
F5 A T 1: 164,021,644 (GRCm39) D1373V probably damaging Het
Fam169a T C 13: 97,247,796 (GRCm39) probably benign Het
Fem1c G A 18: 46,639,019 (GRCm39) R328W probably damaging Het
Gba2 T C 4: 43,568,919 (GRCm39) R579G probably benign Het
Gm42641 G A 9: 108,887,698 (GRCm39) Q98* probably null Het
Hsd17b7 A G 1: 169,792,058 (GRCm39) F117L possibly damaging Het
Itsn1 A G 16: 91,696,511 (GRCm39) D38G possibly damaging Het
Map1a T C 2: 121,130,585 (GRCm39) I467T probably damaging Het
Map2k4 T A 11: 65,581,567 (GRCm39) I382F possibly damaging Het
Myh1 T G 11: 67,097,088 (GRCm39) probably benign Het
Nr1h4 C T 10: 89,309,701 (GRCm39) A339T probably damaging Het
Opn4 T A 14: 34,315,014 (GRCm39) T420S probably benign Het
Or5h22 A C 16: 58,895,155 (GRCm39) M96R probably benign Het
Or6n1 A G 1: 173,916,756 (GRCm39) Y50C probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc17a3 T A 13: 24,026,434 (GRCm39) M1K probably null Het
T T A 17: 8,654,190 (GRCm39) I125N probably damaging Het
Tns2 T A 15: 102,020,263 (GRCm39) S710T probably benign Het
Trav3-1 T A 14: 52,818,551 (GRCm39) V75E probably benign Het
Zng1 T A 19: 24,935,269 (GRCm39) E78D 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
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