Incidental Mutation 'R5770:Shoc1'
ID 446481
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 043370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5770 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59092466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 238 (I238M)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect probably benign
Transcript: ENSMUST00000107547
AA Change: I238M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: I238M

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: ENSMUST00000120981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122832
Meta Mutation Damage Score 0.0822 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 93% (64/69)
Allele List at MGI

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

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik T C 12: 20,865,460 (GRCm39) noncoding transcript Het
Abhd8 A G 8: 71,909,972 (GRCm39) V392A probably benign Het
Alpk3 A G 7: 80,728,310 (GRCm39) E480G probably benign Het
Ankfy1 C G 11: 72,651,082 (GRCm39) H1011D probably damaging Het
Aoc3 T G 11: 101,222,578 (GRCm39) Y271* probably null Het
Bcl9 T C 3: 97,122,491 (GRCm39) I103V probably benign Het
Cgnl1 C T 9: 71,552,769 (GRCm39) probably null Het
Cyp2c23 T A 19: 44,010,018 (GRCm39) D109V probably damaging Het
Cyp2j13 A T 4: 95,965,669 (GRCm39) W13R probably benign Het
D630003M21Rik T C 2: 158,037,500 (GRCm39) probably benign Het
Desi2 A T 1: 178,084,061 (GRCm39) probably benign Het
Dll3 T C 7: 27,998,434 (GRCm39) E177G possibly damaging Het
Ern2 C T 7: 121,779,130 (GRCm39) G238D possibly damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm6133 A G 18: 78,393,464 (GRCm39) K153E probably benign Het
Gpr68 A T 12: 100,845,080 (GRCm39) Y155N probably benign Het
Hcrtr2 T A 9: 76,166,948 (GRCm39) I130F probably damaging Het
Hk1 T C 10: 62,122,228 (GRCm39) K489R probably benign Het
Ints13 T C 6: 146,456,571 (GRCm39) N425S probably damaging Het
Itpkc T C 7: 26,912,413 (GRCm39) D578G probably damaging Het
Kcns3 A G 12: 11,142,250 (GRCm39) S150P probably benign Het
Khdrbs3 T A 15: 68,921,312 (GRCm39) probably null Het
Kif11 A G 19: 37,379,313 (GRCm39) I335V probably benign Het
Lrrn4 C G 2: 132,714,076 (GRCm39) C290S probably damaging Het
Macrod2 T C 2: 141,074,102 (GRCm39) probably benign Het
Mgam A G 6: 40,646,738 (GRCm39) N688S probably benign Het
Myh8 G A 11: 67,188,026 (GRCm39) E933K probably damaging Het
Nat8f5 T C 6: 85,794,657 (GRCm39) Y101C probably damaging Het
Nhlrc1 A G 13: 47,168,188 (GRCm39) V23A probably benign Het
Nkx2-3 T A 19: 43,602,972 (GRCm39) F193I probably damaging Het
Nlrp4b T A 7: 10,449,414 (GRCm39) V172E probably benign Het
Nmrk1 G T 19: 18,622,438 (GRCm39) R172S probably benign Het
Nudcd3 T C 11: 6,063,286 (GRCm39) D201G probably damaging Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or10g9b C T 9: 39,917,634 (GRCm39) V204I probably benign Het
Or13a18 A G 7: 140,190,856 (GRCm39) Y259C probably damaging Het
Or2t44 G A 11: 58,677,420 (GRCm39) R120H probably benign Het
Or2y14 A G 11: 49,405,419 (GRCm39) E318G unknown Het
Or4c12b T A 2: 89,646,893 (GRCm39) D68E probably damaging Het
Or56a3 A T 7: 104,740,102 (GRCm39) I248N probably damaging Het
Or5ac23 A T 16: 59,149,514 (GRCm39) Y119* probably null Het
Pcdh15 T A 10: 74,021,177 (GRCm39) Y130* probably null Het
Pcdh9 G A 14: 94,124,379 (GRCm39) T597I probably damaging Het
Pcdhb19 A G 18: 37,631,090 (GRCm39) N295S possibly damaging Het
Pcnx3 T C 19: 5,731,607 (GRCm39) probably benign Het
Pdzph1 A T 17: 59,186,146 (GRCm39) I1215N probably damaging Het
Phf21a C T 2: 92,182,199 (GRCm39) T405I possibly damaging Het
Pkd1l2 C A 8: 117,781,757 (GRCm39) G763W probably damaging Het
Prox2 A G 12: 85,134,154 (GRCm39) F591L probably benign Het
Robo3 T A 9: 37,330,497 (GRCm39) H1033L possibly damaging Het
Sdha A T 13: 74,471,239 (GRCm39) C222* probably null Het
Sec16a T C 2: 26,304,402 (GRCm39) D2303G probably damaging Het
Slc16a5 A G 11: 115,363,604 (GRCm39) K422E possibly damaging Het
Slc22a30 A T 19: 8,363,891 (GRCm39) M232K probably damaging Het
Slc35b3 A T 13: 39,121,734 (GRCm39) F300I probably damaging Het
Spata2l A G 8: 123,962,459 (GRCm39) V34A probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tecta T A 9: 42,256,885 (GRCm39) Q1597L possibly damaging Het
Tgfb1i1 A T 7: 127,847,719 (GRCm39) probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,807 (GRCm39) T234A probably benign Het
Usp20 A G 2: 30,907,520 (GRCm39) Y684C probably damaging Het
Zc3h4 T A 7: 16,163,536 (GRCm39) M585K unknown Het
Zfp292 A G 4: 34,806,747 (GRCm39) I2099T probably 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGCAATAACAAGGTTTGTGTTTTG -3'
(R):5'- AGATTACTTGAGAAAGGCATTGC -3'

Sequencing Primer
(F):5'- TAGACTAGGCTGGACTTGAACTCAC -3'
(R):5'- GTGCCATTTAAACAAACATCC -3'
Posted On 2016-11-21