Incidental Mutation 'R1420:U2surp'
ID 160056
Institutional Source Beutler Lab
Gene Symbol U2surp
Ensembl Gene ENSMUSG00000032407
Gene Name U2 snRNP-associated SURP domain containing
Synonyms 2610101N10Rik
MMRRC Submission 039476-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R1420 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 95338951-95394049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95344856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 907 (S907P)
Ref Sequence ENSEMBL: ENSMUSP00000077482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078374] [ENSMUST00000079659] [ENSMUST00000191213] [ENSMUST00000217176]
AlphaFold Q6NV83
Predicted Effect probably benign
Transcript: ENSMUST00000078374
AA Change: S907P

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: S907P

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 unknown
Transcript: ENSMUST00000079659
AA Change: S951P
SMART Domains Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: S951P

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 unknown
Transcript: ENSMUST00000217176
AA Change: S950P
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,331,799 (GRCm39) Y669H probably damaging Het
Amotl2 A T 9: 102,601,982 (GRCm39) M409L possibly damaging Het
Ankrd35 A G 3: 96,592,054 (GRCm39) E780G probably benign Het
Brwd1 T C 16: 95,837,234 (GRCm39) Y866C probably damaging Het
Cul4b G C X: 37,653,918 (GRCm39) probably null Het
Daw1 A T 1: 83,137,548 (GRCm39) Y10F possibly damaging Het
Dgki A T 6: 37,027,204 (GRCm39) probably null Het
Dnah3 A T 7: 119,551,202 (GRCm39) V3039E probably damaging Het
Ercc4 C T 16: 12,948,073 (GRCm39) T340I probably benign Het
Fam83b T C 9: 76,399,894 (GRCm39) N403S possibly damaging Het
Fbh1 A G 2: 11,772,493 (GRCm39) F63L probably benign Het
Foxm1 G A 6: 128,349,884 (GRCm39) R395H possibly damaging Het
Gtpbp4 C T 13: 9,023,298 (GRCm39) A589T probably benign Het
Ifna7 C A 4: 88,734,906 (GRCm39) H148N probably damaging Het
Il23r T C 6: 67,463,181 (GRCm39) Y104C probably damaging Het
Il31ra A T 13: 112,668,286 (GRCm39) W347R probably damaging Het
Ints7 T G 1: 191,345,169 (GRCm39) F620V possibly damaging Het
Iqcd T C 5: 120,738,860 (GRCm39) L226P probably damaging Het
Jak3 G T 8: 72,134,182 (GRCm39) R428L possibly damaging Het
Kif28 C A 1: 179,529,962 (GRCm39) C733F probably damaging Het
Klkb1 C A 8: 45,729,183 (GRCm39) C347F probably damaging Het
Ksr2 A G 5: 117,552,904 (GRCm39) E4G probably benign Het
Lama1 T C 17: 68,097,942 (GRCm39) L1774P probably damaging Het
Lrriq3 A G 3: 154,893,349 (GRCm39) E350G probably benign Het
Nav3 G A 10: 109,659,115 (GRCm39) A834V probably benign Het
Ncoa6 G A 2: 155,263,073 (GRCm39) Q454* probably null Het
Nfatc2 C A 2: 168,346,585 (GRCm39) M836I probably benign Het
Nphp3 G T 9: 103,913,092 (GRCm39) probably null Het
Olfml2b C T 1: 170,496,596 (GRCm39) T409M probably benign Het
Oprk1 A G 1: 5,672,544 (GRCm39) K227R probably damaging Het
Or8g35 A T 9: 39,381,289 (GRCm39) H244Q probably damaging Het
Pate1 A T 9: 35,596,505 (GRCm39) W87R probably damaging Het
Pcnx4 T C 12: 72,602,760 (GRCm39) Y341H probably benign Het
Pde4c T A 8: 71,201,066 (GRCm39) H421Q probably damaging Het
Pglyrp4 T C 3: 90,636,021 (GRCm39) V82A probably damaging Het
Pnmt G T 11: 98,278,502 (GRCm39) R156L probably benign Het
Prdm9 C A 17: 15,764,638 (GRCm39) C714F probably damaging Het
Pwp1 T C 10: 85,712,402 (GRCm39) V80A probably damaging Het
Pxdn T C 12: 30,052,067 (GRCm39) L568P probably damaging Het
Rasgrp4 C A 7: 28,839,770 (GRCm39) Q161K probably damaging Het
Rnf138 A G 18: 21,159,159 (GRCm39) E193G probably damaging Het
Slc16a6 A G 11: 109,345,772 (GRCm39) V413A probably damaging Het
Slc7a15 T C 12: 8,584,442 (GRCm39) T363A probably benign Het
Sufu T C 19: 46,385,623 (GRCm39) S28P probably benign Het
Tex19.1 T C 11: 121,037,872 (GRCm39) S77P probably damaging Het
Tmc7 A T 7: 118,165,440 (GRCm39) Y91* probably null Het
Ttbk2 C G 2: 120,576,393 (GRCm39) R792S probably benign Het
Tyw1 T C 5: 130,303,586 (GRCm39) probably null Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vps50 T A 6: 3,588,007 (GRCm39) L660* probably null Het
Wdr55 A G 18: 36,893,392 (GRCm39) E18G probably benign Het
Wipi1 A G 11: 109,469,198 (GRCm39) V331A probably benign 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
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
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'- CTTGAATCATGACAAACTGAGGGAGGAA -3'
(R):5'- AGTGGAGCTGGGAGACACTAGTAGTA -3'

Sequencing Primer
(F):5'- aaaaaaaaaaaaaaaaaGTGCCAAGC -3'
(R):5'- AGTAGTAAAATTAAACTGGGATGCC -3'
Posted On 2014-03-14