Incidental Mutation 'R0948:U2surp'
ID 81718
Institutional Source Beutler Lab
Gene Symbol U2surp
Ensembl Gene ENSMUSG00000032407
Gene Name U2 snRNP-associated SURP domain containing
Synonyms 2610101N10Rik
MMRRC Submission 039087-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R0948 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 95338951-95394049 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 95343550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078374] [ENSMUST00000079659] [ENSMUST00000191213] [ENSMUST00000217176]
AlphaFold Q6NV83
Predicted Effect unknown
Transcript: ENSMUST00000078374
AA Change: S956P
SMART Domains Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: S956P

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: S1000P
SMART Domains Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: S1000P

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: S999P
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik C T 19: 8,867,390 (GRCm39) T63M probably damaging Het
Abcb1a T A 5: 8,790,621 (GRCm39) probably null Het
Ahrr T C 13: 74,361,888 (GRCm39) D537G probably damaging Het
Anxa4 T A 6: 86,718,913 (GRCm39) I269F probably damaging Het
Aoc1l1 A G 6: 48,953,278 (GRCm39) Y401C probably damaging Het
Atm A T 9: 53,407,258 (GRCm39) M1160K probably benign Het
Ccdc175 A G 12: 72,177,897 (GRCm39) Y434H probably damaging Het
Col19a1 C T 1: 24,335,882 (GRCm39) A855T probably damaging Het
Cyp2a4 A G 7: 26,010,213 (GRCm39) D246G probably damaging Het
Dmbt1 T C 7: 130,694,847 (GRCm39) L840P possibly damaging Het
Dock6 A T 9: 21,712,829 (GRCm39) D2009E probably damaging Het
E2f3 C T 13: 30,169,516 (GRCm39) A46T probably damaging Het
Ect2l A T 10: 18,016,334 (GRCm39) C635S probably damaging Het
Fer1l6 A G 15: 58,435,924 (GRCm39) D439G probably benign Het
Hao1 A C 2: 134,372,693 (GRCm39) M105R probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igsf10 A G 3: 59,238,525 (GRCm39) I552T probably damaging Het
Il31ra A G 13: 112,666,912 (GRCm39) S470P possibly damaging Het
Mfsd1 A G 3: 67,504,067 (GRCm39) N353S possibly damaging Het
Mga T A 2: 119,772,140 (GRCm39) F1667I possibly damaging Het
Niban2 A G 2: 32,812,872 (GRCm39) Y480C probably damaging Het
Nwd2 T C 5: 63,964,655 (GRCm39) V1413A probably damaging Het
Or8b1 T G 9: 38,400,244 (GRCm39) S306R probably benign Het
Or8b50 G A 9: 38,517,787 (GRCm39) V9I possibly damaging Het
Osbpl10 T A 9: 114,996,187 (GRCm39) V119E probably damaging Het
Plec C A 15: 76,089,887 (GRCm39) R151L probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rnase4 G T 14: 51,342,362 (GRCm39) G29C probably damaging Het
Sim1 C A 10: 50,857,423 (GRCm39) S391* probably null Het
Sobp A T 10: 42,898,205 (GRCm39) I460N probably damaging Het
Spns3 A T 11: 72,436,766 (GRCm39) D75E probably damaging Het
Strn4 T A 7: 16,571,638 (GRCm39) C26* probably null Het
Tacstd2 T A 6: 67,512,102 (GRCm39) I197L probably damaging Het
Trpc6 A G 9: 8,610,416 (GRCm39) T295A possibly damaging Het
Txnl1 G T 18: 63,825,191 (GRCm39) S18R possibly damaging Het
Ube2frt A T 12: 36,140,934 (GRCm39) probably benign Het
Vwce A G 19: 10,630,441 (GRCm39) Y500C probably damaging Het
Wdr49 A C 3: 75,358,158 (GRCm39) S196A probably benign Het
Wfs1 T C 5: 37,124,905 (GRCm39) Y662C probably damaging Het
Wnt8b A C 19: 44,498,968 (GRCm39) D133A possibly damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp532 C A 18: 65,756,889 (GRCm39) A274E probably damaging Het
Zfp74 A G 7: 29,635,362 (GRCm39) probably null 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
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'- CTACTGCCAGCAGATCCATTGGAC -3'
(R):5'- TGGAGATACCAGTTACCTGGAGAGC -3'

Sequencing Primer
(F):5'- GACAGGTCTACAGATGCAGTTACTC -3'
(R):5'- TCACACATTCTCATTGGAGCAGG -3'
Posted On 2013-11-08