Incidental Mutation 'IGL02503:U2surp'
ID296164
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 #IGL02503
Quality Score
Status
Chromosome9
Chromosomal Location95456898-95511996 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 95502569 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 21 (V21I)
Ref Sequence ENSEMBL: ENSMUSP00000151121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078374] [ENSMUST00000079659] [ENSMUST00000191213] [ENSMUST00000217176]
Predicted Effect probably benign
Transcript: ENSMUST00000078374
AA Change: V21I

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: V21I

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: V21I

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: V21I

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 unknown
Transcript: ENSMUST00000185515
AA Change: V20I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186076
Predicted Effect probably benign
Transcript: ENSMUST00000190019
Predicted Effect probably benign
Transcript: ENSMUST00000191213
AA Change: V21I

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000140614
Gene: ENSMUSG00000032407
AA Change: V21I

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: V21I

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 55,771,505 W822R probably damaging Het
Ago4 A T 4: 126,496,805 Y807* probably null Het
Alkbh8 G A 9: 3,347,852 G215D probably damaging Het
Cfap57 C T 4: 118,569,348 probably null Het
Cspg4 G A 9: 56,897,403 V1833M probably damaging Het
Cyp4f17 T C 17: 32,524,966 probably null Het
Dapk1 T A 13: 60,761,807 Y1411* probably null Het
Dmrtc1b T A X: 102,714,760 S199T possibly damaging Het
Elk4 A G 1: 132,014,539 N50D probably damaging Het
Filip1l T A 16: 57,571,575 V604E probably benign Het
Fmo3 A T 1: 162,968,864 H46Q probably benign Het
Fndc1 T A 17: 7,771,516 Y1116F unknown Het
Fpr-rs3 T A 17: 20,624,555 N108I probably damaging Het
Glmn A T 5: 107,562,778 M316K probably damaging Het
Gm5591 C A 7: 38,520,009 R480I probably damaging Het
Gm8122 G T 14: 43,235,188 R39S unknown Het
Gprasp1 T A X: 135,802,530 Y1157* probably null Het
Hist2h2be A G 3: 96,221,223 T20A probably benign Het
Hsf1 T C 15: 76,498,670 L370P probably benign Het
Iqsec1 T A 6: 90,668,788 I809F probably damaging Het
Itsn1 G T 16: 91,889,204 M54I possibly damaging Het
Klra2 T C 6: 131,230,094 N184S probably benign Het
Lifr T A 15: 7,185,623 V737E probably damaging Het
Lrpprc T C 17: 84,726,339 T1037A probably benign Het
Map3k13 A T 16: 21,908,704 I439F possibly damaging Het
Megf8 T C 7: 25,363,563 V2448A possibly damaging Het
Mthfd1l T A 10: 4,083,824 V737D probably damaging Het
Mtm1 A G X: 71,299,670 T386A probably damaging Het
Muc5b T C 7: 141,867,667 V4298A probably benign Het
Olfr1053 C T 2: 86,314,639 G216R possibly damaging Het
Olfr1123 T G 2: 87,418,292 F81L probably benign Het
Olfr1143 A T 2: 87,802,520 I44F probably benign Het
Plch1 A G 3: 63,697,864 S1531P probably damaging Het
Poc1b T A 10: 99,144,348 probably benign Het
Rictor T A 15: 6,786,443 N1065K probably benign Het
Rpsa A G 9: 120,128,593 E35G possibly damaging Het
Scfd1 T A 12: 51,422,921 D416E possibly damaging Het
Sdad1 A T 5: 92,301,802 probably benign Het
Skor1 A G 9: 63,146,115 S191P probably damaging Het
Slc28a2 T C 2: 122,458,212 F600L probably benign Het
Tmem229b-ps A G 10: 53,475,154 noncoding transcript Het
Top2b A G 14: 16,407,163 M678V possibly damaging Het
Ttn T C 2: 76,786,763 N8092S probably damaging Het
Ttn C T 2: 76,741,689 V26287I probably damaging Het
Tulp4 T A 17: 6,213,391 I345N probably damaging Het
Ubr5 T C 15: 38,018,320 T859A possibly damaging Het
Ubr5 T C 15: 38,018,314 K861E probably damaging Het
Unc13d A G 11: 116,068,802 V617A possibly damaging Het
Vmn2r10 T C 5: 109,003,475 Y91C probably damaging Het
Vmn2r120 T A 17: 57,509,385 I657F probably benign Het
Wwc2 T C 8: 47,849,383 R931G 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
IGL01992:U2surp APN 9 95482181 missense probably damaging 0.99
IGL02300:U2surp APN 9 95488770 missense probably damaging 1.00
IGL02491:U2surp APN 9 95490220 missense probably damaging 0.98
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 On2015-04-16