Incidental Mutation 'IGL02282:Shoc1'
ID 289876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02282
Quality Score
Status
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 59111114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 53 (Y53D)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect unknown
Transcript: ENSMUST00000107547
AA Change: Y53D
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: Y53D

DomainStartEndE-ValueType
low complexity region 246 264 N/A INTRINSIC
low complexity region 543 560 N/A INTRINSIC
low complexity region 908 917 N/A INTRINSIC
low complexity region 1189 1201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122832
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(6) : Targeted, other(1) Gene trapped(5)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,983,351 (GRCm39) D1545G probably damaging Het
Baiap3 A C 17: 25,468,351 (GRCm39) D234E probably benign Het
Bltp2 C T 11: 78,175,054 (GRCm39) P1730S probably benign Het
Cand1 T A 10: 119,046,614 (GRCm39) T959S probably benign Het
Ctdspl2 A G 2: 121,807,959 (GRCm39) probably benign Het
Cyp2a4 A C 7: 26,008,472 (GRCm39) M205L probably benign Het
Dlx5 G A 6: 6,881,762 (GRCm39) A42V probably damaging Het
Dnah7a A G 1: 53,682,669 (GRCm39) I267T possibly damaging Het
Dnajb6 A G 5: 29,957,416 (GRCm39) D66G probably damaging Het
Fgf8 T C 19: 45,725,529 (GRCm39) H201R possibly damaging Het
Gpc1 A G 1: 92,785,689 (GRCm39) K460E probably damaging Het
Gzme A T 14: 56,355,826 (GRCm39) L162Q probably damaging Het
Ik G A 18: 36,878,697 (GRCm39) G17D probably damaging Het
Il4 G A 11: 53,509,001 (GRCm39) T59M probably damaging Het
Kcnh3 G T 15: 99,125,924 (GRCm39) probably null Het
Mill1 G T 7: 17,997,129 (GRCm39) probably null Het
Npbwr1 A T 1: 5,987,184 (GRCm39) M110K possibly damaging Het
Opalin A T 19: 41,054,943 (GRCm39) S84T probably benign Het
Or10w1 T A 19: 13,632,622 (GRCm39) D276E probably damaging Het
Or7g30 A G 9: 19,352,914 (GRCm39) Y235C probably benign Het
Or8b35 A T 9: 37,904,318 (GRCm39) I177F probably damaging Het
Pcdhb11 T C 18: 37,556,881 (GRCm39) L737P probably damaging Het
Phip G A 9: 82,795,743 (GRCm39) S626L probably benign Het
Ppl T C 16: 4,919,322 (GRCm39) D435G probably damaging Het
Prss37 A G 6: 40,492,317 (GRCm39) V178A possibly damaging Het
Ptpn7 A G 1: 135,062,572 (GRCm39) I104V probably damaging Het
Ptprn A G 1: 75,229,800 (GRCm39) Y700H probably damaging Het
Rab11fip5 T A 6: 85,314,534 (GRCm39) T555S probably damaging Het
Rfwd3 A T 8: 112,020,614 (GRCm39) probably benign Het
Robo1 G A 16: 72,539,026 (GRCm39) R41H probably damaging Het
Rps3 A G 7: 99,128,479 (GRCm39) probably null Het
Ruvbl2 G A 7: 45,074,589 (GRCm39) T183I probably benign Het
Sema4c A T 1: 36,589,284 (GRCm39) probably null Het
Taar8b T A 10: 23,967,453 (GRCm39) K247I possibly damaging Het
Tacr3 A T 3: 134,566,834 (GRCm39) I236F probably benign Het
Ttc21b A G 2: 66,022,081 (GRCm39) I1168T probably damaging Het
Ttc9b A T 7: 27,355,336 (GRCm39) D202V probably damaging Het
Vmn2r26 T G 6: 124,038,584 (GRCm39) C720G probably damaging Het
Vmn2r37 A G 7: 9,209,761 (GRCm39) S584P probably benign Het
Wnk2 T A 13: 49,221,601 (GRCm39) D1208V probably damaging Het
Zfp988 T A 4: 147,416,125 (GRCm39) C186* probably null Het
Zp3 A G 5: 136,013,205 (GRCm39) N179S possibly damaging Het
Other mutations in Shoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Shoc1 APN 4 59,086,961 (GRCm39) missense probably benign
IGL00574:Shoc1 APN 4 59,094,201 (GRCm39) missense possibly damaging 0.66
IGL01333:Shoc1 APN 4 59,047,870 (GRCm39) missense possibly damaging 0.66
IGL02418:Shoc1 APN 4 59,049,075 (GRCm39) splice site probably benign
IGL02621:Shoc1 APN 4 59,062,668 (GRCm39) missense probably damaging 0.97
IGL03028:Shoc1 APN 4 59,094,274 (GRCm39) missense possibly damaging 0.66
IGL03112:Shoc1 APN 4 59,049,355 (GRCm39) missense probably benign 0.27
IGL03137:Shoc1 APN 4 59,094,162 (GRCm39) missense probably benign 0.27
IGL03220:Shoc1 APN 4 59,082,378 (GRCm39) nonsense probably null
IGL03386:Shoc1 APN 4 59,069,315 (GRCm39) missense possibly damaging 0.66
1mM(1):Shoc1 UTSW 4 59,048,024 (GRCm39) nonsense probably null
R0071:Shoc1 UTSW 4 59,059,643 (GRCm39) missense possibly damaging 0.92
R0071:Shoc1 UTSW 4 59,059,643 (GRCm39) missense possibly damaging 0.92
R0194:Shoc1 UTSW 4 59,066,534 (GRCm39) splice site probably benign
R0366:Shoc1 UTSW 4 59,099,410 (GRCm39) missense probably benign 0.09
R0680:Shoc1 UTSW 4 59,043,967 (GRCm39) missense probably benign 0.00
R1419:Shoc1 UTSW 4 59,064,457 (GRCm39) missense possibly damaging 0.66
R1599:Shoc1 UTSW 4 59,072,349 (GRCm39) missense possibly damaging 0.82
R1699:Shoc1 UTSW 4 59,113,926 (GRCm39) missense unknown
R1799:Shoc1 UTSW 4 59,099,383 (GRCm39) missense possibly damaging 0.92
R1832:Shoc1 UTSW 4 59,066,441 (GRCm39) missense probably benign 0.05
R1870:Shoc1 UTSW 4 59,054,142 (GRCm39) splice site probably benign
R2076:Shoc1 UTSW 4 59,082,410 (GRCm39) missense possibly damaging 0.46
R2170:Shoc1 UTSW 4 59,069,215 (GRCm39) missense possibly damaging 0.92
R2870:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2870:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2871:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2871:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2872:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2872:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R2873:Shoc1 UTSW 4 59,093,850 (GRCm39) missense probably damaging 0.97
R3026:Shoc1 UTSW 4 59,062,656 (GRCm39) missense possibly damaging 0.83
R3079:Shoc1 UTSW 4 59,047,848 (GRCm39) missense possibly damaging 0.82
R3853:Shoc1 UTSW 4 59,047,390 (GRCm39) missense possibly damaging 0.66
R3914:Shoc1 UTSW 4 59,094,201 (GRCm39) missense possibly damaging 0.66
R4006:Shoc1 UTSW 4 59,076,500 (GRCm39) missense possibly damaging 0.53
R4364:Shoc1 UTSW 4 59,082,294 (GRCm39) missense possibly damaging 0.92
R4387:Shoc1 UTSW 4 59,060,915 (GRCm39) missense possibly damaging 0.66
R4454:Shoc1 UTSW 4 59,092,383 (GRCm39) missense possibly damaging 0.90
R4811:Shoc1 UTSW 4 59,082,404 (GRCm39) missense probably benign 0.19
R4853:Shoc1 UTSW 4 59,072,345 (GRCm39) missense possibly damaging 0.66
R4899:Shoc1 UTSW 4 59,062,640 (GRCm39) missense probably damaging 0.97
R5090:Shoc1 UTSW 4 59,111,108 (GRCm39) missense unknown
R5169:Shoc1 UTSW 4 59,059,618 (GRCm39) missense possibly damaging 0.66
R5297:Shoc1 UTSW 4 59,047,543 (GRCm39) missense probably benign
R5400:Shoc1 UTSW 4 59,082,432 (GRCm39) missense possibly damaging 0.83
R5419:Shoc1 UTSW 4 59,049,017 (GRCm39) missense probably benign 0.04
R5668:Shoc1 UTSW 4 59,047,399 (GRCm39) missense probably benign
R5770:Shoc1 UTSW 4 59,092,466 (GRCm39) missense probably benign 0.00
R5783:Shoc1 UTSW 4 59,076,239 (GRCm39) nonsense probably null
R5929:Shoc1 UTSW 4 59,092,497 (GRCm39) nonsense probably null
R6209:Shoc1 UTSW 4 59,043,869 (GRCm39) makesense probably null
R6230:Shoc1 UTSW 4 59,099,345 (GRCm39) missense probably benign
R6233:Shoc1 UTSW 4 59,076,245 (GRCm39) missense possibly damaging 0.92
R6351:Shoc1 UTSW 4 59,069,317 (GRCm39) missense probably benign 0.00
R6785:Shoc1 UTSW 4 59,049,066 (GRCm39) missense probably benign 0.01
R6884:Shoc1 UTSW 4 59,059,652 (GRCm39) missense possibly damaging 0.83
R7355:Shoc1 UTSW 4 59,076,155 (GRCm39) missense probably benign
R7423:Shoc1 UTSW 4 59,076,264 (GRCm39) missense probably benign 0.27
R7484:Shoc1 UTSW 4 59,062,286 (GRCm39) missense probably damaging 0.97
R7560:Shoc1 UTSW 4 59,076,140 (GRCm39) missense possibly damaging 0.66
R7999:Shoc1 UTSW 4 59,094,162 (GRCm39) missense probably benign 0.27
R8198:Shoc1 UTSW 4 59,065,174 (GRCm39) missense probably benign 0.10
R8979:Shoc1 UTSW 4 59,047,276 (GRCm39) missense possibly damaging 0.66
Posted On 2015-04-16