Incidental Mutation 'IGL02121:Sgo2b'
ID280638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgo2b
Ensembl Gene ENSMUSG00000094443
Gene Nameshugoshin 2B
SynonymsSgol2b, Gm4975
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL02121
Quality Score
Status
Chromosome8
Chromosomal Location63924694-63952248 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63931282 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 227 (T227A)
Ref Sequence ENSEMBL: ENSMUSP00000136323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179944]
Predicted Effect possibly damaging
Transcript: ENSMUST00000179944
AA Change: T227A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: T227A

DomainStartEndE-ValueType
coiled coil region 54 113 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
low complexity region 163 172 N/A INTRINSIC
low complexity region 400 414 N/A INTRINSIC
internal_repeat_1 528 618 9.12e-8 PROSPERO
internal_repeat_1 713 809 9.12e-8 PROSPERO
low complexity region 1009 1024 N/A INTRINSIC
low complexity region 1059 1081 N/A INTRINSIC
low complexity region 1112 1126 N/A INTRINSIC
low complexity region 1130 1148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210915
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik A T 13: 97,022,530 V122D unknown Het
4930579F01Rik T G 3: 138,164,373 Y199S possibly damaging Het
Abca6 T A 11: 110,182,924 I1434F probably benign Het
Acsm1 T C 7: 119,658,412 V467A possibly damaging Het
Alg3 T C 16: 20,606,535 T260A possibly damaging Het
Aoc1 A G 6: 48,906,320 probably null Het
Ap5b1 C T 19: 5,570,787 T745I possibly damaging Het
Atp6v1c2 T G 12: 17,291,440 K272Q possibly damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Clcn7 C T 17: 25,153,084 A426V possibly damaging Het
Clec14a T C 12: 58,268,437 E133G probably damaging Het
Col4a3bp T G 13: 96,599,474 Y181D probably benign Het
Diexf A T 1: 193,118,278 D411E probably benign Het
Dst T A 1: 34,228,657 V2720E probably damaging Het
Efr3a C T 15: 65,871,150 probably benign Het
Fam83g T C 11: 61,684,783 S84P probably benign Het
Gm10436 T C 12: 88,178,472 D28G possibly damaging Het
Gm7251 T C 13: 49,805,906 noncoding transcript Het
Gnptab T G 10: 88,429,461 S312A possibly damaging Het
Grap2 C A 15: 80,647,875 S230R possibly damaging Het
Grm6 T A 11: 50,859,656 C549S probably damaging Het
Gtf3c1 A T 7: 125,646,731 L1504* probably null Het
Iars A G 13: 49,724,696 M899V probably benign Het
Il1rl1 T A 1: 40,442,303 probably benign Het
Kcna4 T C 2: 107,296,618 Y566H possibly damaging Het
Kcnn2 T C 18: 45,561,273 I175T probably damaging Het
Kcnt1 C T 2: 25,901,865 T609I probably damaging Het
Kif3b A G 2: 153,317,274 R332G probably damaging Het
Mansc1 T C 6: 134,621,837 D39G probably damaging Het
Med12 T C X: 101,288,342 probably benign Het
Mmp1b G T 9: 7,384,935 T238K probably benign Het
Nav3 A G 10: 109,759,036 S1435P probably damaging Het
Npc1l1 A G 11: 6,228,157 S418P probably benign Het
Olfr125 T C 17: 37,835,941 V314A probably benign Het
Olfr324 T C 11: 58,597,582 V62A possibly damaging Het
Olfr401 A G 11: 74,121,287 probably benign Het
Olfr522 G T 7: 140,162,694 D85E probably benign Het
Olfr628 A G 7: 103,732,469 Y181C probably damaging Het
Olfr648 A C 7: 104,180,225 M61R probably damaging Het
Olfr918 T C 9: 38,673,415 T23A probably damaging Het
Otoa A G 7: 121,122,024 T421A probably benign Het
Otulin G A 15: 27,608,737 A42V probably damaging Het
Pcdhb1 T A 18: 37,265,785 V263E probably benign Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Phip A T 9: 82,893,370 V1053D probably damaging Het
Pkd1 G A 17: 24,575,927 R2196H probably benign Het
Plin4 T A 17: 56,102,131 Q1363L probably damaging Het
Pp2d1 C A 17: 53,507,921 V592L probably damaging Het
Prkdc T G 16: 15,717,184 M1649R probably benign Het
Ptk2b T C 14: 66,213,482 K12E probably benign Het
Rars2 G A 4: 34,657,219 V522I probably damaging Het
Rpgrip1 T A 14: 52,147,374 N646K possibly damaging Het
Sars2 A G 7: 28,752,525 probably benign Het
Smc1b T C 15: 85,097,985 T703A probably benign Het
Stk32a G T 18: 43,313,507 D341Y probably benign Het
Thap11 T C 8: 105,855,914 V185A possibly damaging Het
Ttll10 C A 4: 156,048,433 V65F probably benign Het
Ube2q1 T A 3: 89,780,462 N111K possibly damaging Het
Upf2 C A 2: 6,026,323 probably benign Het
Vasp T A 7: 19,257,712 probably benign Het
Vmn2r104 C T 17: 20,041,794 W358* probably null Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wdfy3 C T 5: 101,898,510 G1826R possibly damaging Het
Wdr7 T A 18: 63,777,545 Y669* probably null Het
Wdr72 T A 9: 74,281,729 probably benign Het
Other mutations in Sgo2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Sgo2b APN 8 63926523 missense probably benign
IGL01343:Sgo2b APN 8 63927315 nonsense probably null
IGL02027:Sgo2b APN 8 63926829 missense probably benign
IGL02090:Sgo2b APN 8 63927089 missense probably damaging 0.99
IGL02206:Sgo2b APN 8 63941084 missense possibly damaging 0.94
IGL02554:Sgo2b APN 8 63926537 missense probably damaging 0.96
IGL02663:Sgo2b APN 8 63943114 missense probably damaging 0.97
IGL03149:Sgo2b APN 8 63926583 missense probably benign 0.14
R0164:Sgo2b UTSW 8 63938383 missense possibly damaging 0.92
R0164:Sgo2b UTSW 8 63938383 missense possibly damaging 0.92
R0201:Sgo2b UTSW 8 63926636 missense probably benign
R0285:Sgo2b UTSW 8 63928789 nonsense probably null
R0325:Sgo2b UTSW 8 63928376 missense probably benign 0.20
R0727:Sgo2b UTSW 8 63927782 missense probably damaging 0.98
R0943:Sgo2b UTSW 8 63931335 missense possibly damaging 0.82
R1148:Sgo2b UTSW 8 63926855 missense probably damaging 0.99
R1266:Sgo2b UTSW 8 63928421 missense probably benign 0.00
R1484:Sgo2b UTSW 8 63931473 missense possibly damaging 0.77
R1493:Sgo2b UTSW 8 63926855 missense probably damaging 0.99
R1537:Sgo2b UTSW 8 63926502 missense possibly damaging 0.94
R1630:Sgo2b UTSW 8 63927797 missense possibly damaging 0.90
R1803:Sgo2b UTSW 8 63927392 missense probably benign 0.01
R1912:Sgo2b UTSW 8 63931469 missense probably damaging 0.98
R1993:Sgo2b UTSW 8 63926833 missense probably benign 0.36
R2042:Sgo2b UTSW 8 63928527 missense probably benign
R2130:Sgo2b UTSW 8 63927147 missense probably benign 0.09
R2146:Sgo2b UTSW 8 63928023 missense probably benign 0.00
R2881:Sgo2b UTSW 8 63927536 missense probably damaging 0.99
R3686:Sgo2b UTSW 8 63931327 missense probably benign 0.20
R3706:Sgo2b UTSW 8 63928145 missense probably damaging 0.98
R3889:Sgo2b UTSW 8 63927743 missense possibly damaging 0.82
R3894:Sgo2b UTSW 8 63928733 missense possibly damaging 0.91
R3895:Sgo2b UTSW 8 63928733 missense possibly damaging 0.91
R4058:Sgo2b UTSW 8 63926947 missense probably damaging 0.98
R4259:Sgo2b UTSW 8 63928296 missense probably benign 0.06
R4260:Sgo2b UTSW 8 63928296 missense probably benign 0.06
R4704:Sgo2b UTSW 8 63927790 missense probably damaging 0.98
R4815:Sgo2b UTSW 8 63931414 missense probably benign
R4922:Sgo2b UTSW 8 63926630 missense possibly damaging 0.66
R5232:Sgo2b UTSW 8 63928602 missense possibly damaging 0.55
R5262:Sgo2b UTSW 8 63943137 missense probably damaging 0.99
R5444:Sgo2b UTSW 8 63926556 missense possibly damaging 0.90
R5677:Sgo2b UTSW 8 63926974 missense possibly damaging 0.77
R5959:Sgo2b UTSW 8 63927288 missense probably benign 0.01
R6004:Sgo2b UTSW 8 63926673 nonsense probably null
R6267:Sgo2b UTSW 8 63927793 missense probably benign
R6296:Sgo2b UTSW 8 63927793 missense probably benign
R6328:Sgo2b UTSW 8 63928311 nonsense probably null
R6517:Sgo2b UTSW 8 63931494 missense probably damaging 0.99
R6523:Sgo2b UTSW 8 63927504 missense probably benign 0.11
R6726:Sgo2b UTSW 8 63927735 nonsense probably null
R6957:Sgo2b UTSW 8 63931455 small deletion probably benign
R7031:Sgo2b UTSW 8 63940044 missense possibly damaging 0.94
R7034:Sgo2b UTSW 8 63926834 missense probably benign 0.36
R7145:Sgo2b UTSW 8 63928184 missense probably damaging 1.00
R7289:Sgo2b UTSW 8 63941158 missense probably damaging 0.97
Z1088:Sgo2b UTSW 8 63927005 missense probably damaging 1.00
Z1088:Sgo2b UTSW 8 63928422 missense possibly damaging 0.61
Posted On2015-04-16