Incidental Mutation 'IGL03220:Shoc1'
ID 413597
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 # IGL03220
Quality Score
Status
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 59082378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 417 (Q417*)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect probably null
Transcript: ENSMUST00000107547
AA Change: Q417*
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: Q417*

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
Ahctf1 T A 1: 179,615,767 (GRCm39) E368D probably benign Het
Arid2 A T 15: 96,259,653 (GRCm39) H271L probably damaging Het
Bsnd G T 4: 106,343,962 (GRCm39) Q115K possibly damaging Het
Ceacam5 T A 7: 17,494,653 (GRCm39) I887N probably damaging Het
Clrn2 T C 5: 45,621,070 (GRCm39) F155L probably damaging Het
Col12a1 A G 9: 79,606,765 (GRCm39) S553P probably damaging Het
Crnn C T 3: 93,056,674 (GRCm39) H487Y possibly damaging Het
Ddi2 T C 4: 141,435,767 (GRCm39) N90S probably benign Het
Deup1 T A 9: 15,503,707 (GRCm39) I285L probably benign Het
Dlgap4 T C 2: 156,546,546 (GRCm39) S405P probably damaging Het
Dnah11 A G 12: 118,069,720 (GRCm39) F1560L probably benign Het
Dock1 T C 7: 134,710,251 (GRCm39) probably null Het
Dst C A 1: 34,225,076 (GRCm39) Q1161K probably damaging Het
Dus1l G T 11: 120,683,185 (GRCm39) H280N probably damaging Het
Gm21985 C A 2: 112,187,829 (GRCm39) H964N possibly damaging Het
Gzmd A T 14: 56,367,886 (GRCm39) V129E probably damaging Het
Hmcn2 T A 2: 31,236,633 (GRCm39) F392Y possibly damaging Het
Kdelr2 T A 5: 143,403,870 (GRCm39) Y86* probably null Het
Kif26b T G 1: 178,692,434 (GRCm39) C458W probably damaging Het
Lhpp G A 7: 132,252,020 (GRCm39) V220I probably benign Het
Nfya T C 17: 48,707,521 (GRCm39) N7S possibly damaging Het
Or5ar1 G T 2: 85,671,326 (GRCm39) Q270K possibly damaging Het
Or5b12b C T 19: 12,861,815 (GRCm39) T190I possibly damaging Het
Or5b24 A C 19: 12,912,858 (GRCm39) Y252S probably damaging Het
Prkg1 A T 19: 30,546,637 (GRCm39) probably benign Het
Prpf6 A G 2: 181,274,672 (GRCm39) E383G probably damaging Het
Ptpn21 A T 12: 98,644,882 (GRCm39) V1153E probably damaging Het
Ryr1 A T 7: 28,759,280 (GRCm39) I3330N probably damaging Het
Sgk1 A G 10: 21,873,290 (GRCm39) D252G probably null Het
Shcbp1l T C 1: 153,308,911 (GRCm39) probably benign Het
Skida1 T C 2: 18,052,972 (GRCm39) D60G probably damaging Het
Slc9a5 T A 8: 106,094,652 (GRCm39) C748S probably benign Het
Smc4 A T 3: 68,916,875 (GRCm39) Y163F possibly damaging Het
Spdya T C 17: 71,885,286 (GRCm39) S247P possibly damaging Het
Sptb T C 12: 76,659,684 (GRCm39) D1072G probably benign Het
St7l A T 3: 104,782,139 (GRCm39) probably benign Het
Trmt1l T C 1: 151,316,692 (GRCm39) probably benign Het
Tspan4 A G 7: 141,071,712 (GRCm39) Y153C probably damaging Het
Ulk4 A T 9: 120,974,402 (GRCm39) N944K probably damaging Het
Unc80 T C 1: 66,544,097 (GRCm39) C407R probably damaging Het
Zfp563 T G 17: 33,323,661 (GRCm39) S85R probably benign Het
Zp2 A C 7: 119,736,450 (GRCm39) L331R 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
IGL02282:Shoc1 APN 4 59,111,114 (GRCm39) missense unknown
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
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 2016-08-02