Incidental Mutation 'IGL01992:U2surp'
ID183562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol U2surp
Ensembl Gene ENSMUSG00000032407
Gene NameU2 snRNP-associated SURP domain containing
Synonyms2610101N10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #IGL01992
Quality Score
Status
Chromosome9
Chromosomal Location95456898-95511996 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95482181 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 561 (F561L)
Ref Sequence ENSEMBL: ENSMUSP00000151121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078374] [ENSMUST00000079659] [ENSMUST00000191213] [ENSMUST00000217176]
Predicted Effect probably damaging
Transcript: ENSMUST00000078374
AA Change: F518L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: F518L

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: F562L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: F562L

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 damaging
Transcript: ENSMUST00000217176
AA Change: F561L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik C T 13: 34,924,533 probably null Het
Ano3 A G 2: 110,658,219 M956T probably damaging Het
Ap2b1 T G 11: 83,335,530 V289G probably damaging Het
Asna1 G A 8: 85,018,556 A294V possibly damaging Het
Cacnb4 G T 2: 52,465,670 H208Q probably damaging Het
Cd5l G A 3: 87,367,811 R219Q probably benign Het
Dzip1l G T 9: 99,663,686 G663W probably damaging Het
Ecel1 G A 1: 87,149,855 probably benign Het
Eno1 A G 4: 150,239,536 T19A probably damaging Het
Fam26f A T 10: 34,127,537 C125S probably damaging Het
Fam46c A T 3: 100,472,630 M270K probably damaging Het
Fndc3a G A 14: 72,574,556 T315I probably benign Het
Galr1 T C 18: 82,393,817 N308S probably damaging Het
Maf A T 8: 115,705,963 S301T probably damaging Het
Map3k5 C T 10: 20,029,133 R394* probably null Het
Mroh8 C T 2: 157,213,696 G994D probably damaging Het
Myo10 T C 15: 25,799,548 V653A possibly damaging Het
Nucks1 A G 1: 131,931,090 K196E unknown Het
Nupl2 T C 5: 24,181,103 V211A probably benign Het
Olfr18 A T 9: 20,314,719 I59N probably damaging Het
Olfr732 C A 14: 50,281,341 R304L probably benign Het
Olfr851 A T 9: 19,496,774 I9F probably benign Het
Piwil1 C T 5: 128,747,332 T493I probably null Het
Plcd1 T C 9: 119,075,985 H216R probably benign Het
Pmp2 A T 3: 10,182,481 Y49* probably null Het
Rnf38 A G 4: 44,138,806 V229A probably damaging Het
Saxo2 T C 7: 82,634,900 D250G probably damaging Het
Scn8a T G 15: 100,969,057 V98G probably damaging Het
Scnn1a T A 6: 125,338,937 probably null Het
Sepsecs C T 5: 52,644,060 R420Q probably benign Het
Slit2 T C 5: 48,238,417 S725P probably benign Het
Stk16 A G 1: 75,213,191 Q207R probably benign Het
Tapt1 C T 5: 44,178,990 V446M probably damaging Het
Tnni3k A C 3: 154,962,026 V250G probably damaging Het
Ttll8 C T 15: 88,915,645 G531E possibly damaging Het
Unc5d A G 8: 28,652,791 Y878H probably damaging Het
Ust A G 10: 8,298,078 M221T probably benign Het
Wasf3 T C 5: 146,455,591 F157S probably damaging Het
Wdr64 G A 1: 175,706,071 C91Y probably damaging Het
Zan T C 5: 137,424,106 Y2750C unknown Het
Other mutations in U2surp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:U2surp APN 9 95461524 utr 3 prime probably benign
IGL01122:U2surp APN 9 95490234 missense probably benign 0.02
IGL01985:U2surp APN 9 95490226 missense probably damaging 1.00
IGL01992:U2surp APN 9 95464419 missense possibly damaging 0.46
IGL02300:U2surp APN 9 95488770 missense probably damaging 1.00
IGL02491:U2surp APN 9 95490220 missense probably damaging 0.98
IGL02503:U2surp APN 9 95502569 missense probably benign 0.03
IGL02615:U2surp APN 9 95493231 missense probably benign 0.00
IGL02628:U2surp APN 9 95472090 missense possibly damaging 0.89
IGL02682:U2surp APN 9 95481651 critical splice donor site probably null
IGL02721:U2surp APN 9 95474435 missense probably benign 0.10
IGL03200:U2surp APN 9 95491391 nonsense probably null
coup UTSW 9 95477512 missense probably damaging 1.00
R0095:U2surp UTSW 9 95500684 splice site probably null
R0373:U2surp UTSW 9 95484443 missense probably benign 0.08
R0376:U2surp UTSW 9 95484443 missense probably benign 0.08
R0377:U2surp UTSW 9 95484443 missense probably benign 0.08
R0416:U2surp UTSW 9 95485607 missense probably damaging 1.00
R0682:U2surp UTSW 9 95484443 missense probably benign 0.08
R0948:U2surp UTSW 9 95461497 utr 3 prime probably benign
R1420:U2surp UTSW 9 95462803 missense probably benign 0.33
R1474:U2surp UTSW 9 95493198 missense possibly damaging 0.49
R1555:U2surp UTSW 9 95466577 missense probably damaging 1.00
R1597:U2surp UTSW 9 95481740 splice site probably benign
R1638:U2surp UTSW 9 95484227 missense possibly damaging 0.95
R1693:U2surp UTSW 9 95511860 start codon destroyed probably null 0.53
R1851:U2surp UTSW 9 95482097 nonsense probably null
R2271:U2surp UTSW 9 95491420 missense possibly damaging 0.80
R2679:U2surp UTSW 9 95476232 missense possibly damaging 0.82
R2851:U2surp UTSW 9 95500682 splice site probably null
R3769:U2surp UTSW 9 95493697 splice site probably benign
R4596:U2surp UTSW 9 95485628 missense probably damaging 1.00
R4672:U2surp UTSW 9 95493145 missense possibly damaging 0.83
R4763:U2surp UTSW 9 95511791 intron probably benign
R4995:U2surp UTSW 9 95462794 utr 3 prime probably benign
R5805:U2surp UTSW 9 95479304 missense possibly damaging 0.51
R6006:U2surp UTSW 9 95479307 missense probably damaging 0.96
R6249:U2surp UTSW 9 95500816 missense probably benign 0.07
R6260:U2surp UTSW 9 95476157 missense probably damaging 0.99
R6378:U2surp UTSW 9 95491421 missense probably benign 0.41
R6487:U2surp UTSW 9 95477512 missense probably damaging 1.00
R6585:U2surp UTSW 9 95472071 missense probably damaging 1.00
R6721:U2surp UTSW 9 95491104 missense probably damaging 0.99
R6760:U2surp UTSW 9 95493711 missense probably benign 0.27
R7065:U2surp UTSW 9 95485659 missense probably benign 0.01
R7167:U2surp UTSW 9 95481673 missense probably damaging 0.98
R7219:U2surp UTSW 9 95490162 nonsense probably null
R7232:U2surp UTSW 9 95493717 missense probably benign 0.03
R7460:U2surp UTSW 9 95462824 missense unknown
R7547:U2surp UTSW 9 95479349 missense possibly damaging 0.94
R7609:U2surp UTSW 9 95485679 splice site probably null
R7761:U2surp UTSW 9 95488761 missense probably damaging 1.00
X0018:U2surp UTSW 9 95475288 missense probably benign 0.14
X0018:U2surp UTSW 9 95485597 missense probably damaging 0.98
Posted On2014-05-07