Incidental Mutation 'R7355:Shoc1'
ID 570865
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 045441-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R7355 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59076155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 596 (D596G)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect probably benign
Transcript: ENSMUST00000107547
AA Change: D596G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: D596G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (72/72)
Allele List at MGI

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

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,486,621 (GRCm39) R1469W probably benign Het
Acad10 G T 5: 121,768,780 (GRCm39) Y728* probably null Het
Adamts17 T C 7: 66,725,052 (GRCm39) V160A Het
Astn1 A T 1: 158,491,846 (GRCm39) probably null Het
Atp8a2 T C 14: 60,282,453 (GRCm39) K104E possibly damaging Het
Axl T C 7: 25,473,531 (GRCm39) Y365C probably benign Het
Btbd16 A T 7: 130,423,173 (GRCm39) Y409F probably benign Het
Caln1 A T 5: 130,443,732 (GRCm39) T22S probably benign Het
Camk1 C A 6: 113,315,307 (GRCm39) G164C probably damaging Het
Cd96 T C 16: 45,861,655 (GRCm39) T512A possibly damaging Het
Ceacam5 A G 7: 17,481,312 (GRCm39) D353G probably damaging Het
Cep162 C A 9: 87,136,008 (GRCm39) E12* probably null Het
Cfh A T 1: 140,064,553 (GRCm39) V365E probably damaging Het
Chd7 A G 4: 8,752,196 (GRCm39) H231R unknown Het
Cntnap3 T C 13: 64,919,776 (GRCm39) T694A probably benign Het
Colq C A 14: 31,267,066 (GRCm39) G158V probably damaging Het
Ctif G A 18: 75,743,756 (GRCm39) H139Y probably damaging Het
D630003M21Rik A T 2: 158,042,144 (GRCm39) F934Y probably damaging Het
Dclre1a T A 19: 56,535,567 (GRCm39) T6S possibly damaging Het
Dnmbp T C 19: 43,890,180 (GRCm39) D529G probably benign Het
Fat2 T A 11: 55,147,377 (GRCm39) Q3955L probably benign Het
Gjd4 A G 18: 9,280,860 (GRCm39) S73P probably damaging Het
Gm19410 C A 8: 36,274,226 (GRCm39) Q1460K probably benign Het
Golga5 A T 12: 102,438,494 (GRCm39) I70F possibly damaging Het
Gon4l T A 3: 88,770,827 (GRCm39) I502N probably damaging Het
Gtf2ird2 C G 5: 134,245,491 (GRCm39) A583G probably benign Het
Hectd1 A C 12: 51,838,081 (GRCm39) W694G possibly damaging Het
Ifit1bl2 C T 19: 34,597,061 (GRCm39) G185D probably damaging Het
Igfbp6 G A 15: 102,056,375 (GRCm39) A145T probably benign Het
Junb C T 8: 85,705,013 (GRCm39) A16T probably benign Het
Kcnh4 C T 11: 100,643,269 (GRCm39) V333I possibly damaging Het
Ly6c1 T C 15: 74,919,256 (GRCm39) T45A possibly damaging Het
Mon2 T A 10: 122,845,421 (GRCm39) Q1428L probably benign Het
Nfatc2ip C T 7: 125,986,783 (GRCm39) probably null Het
Olfml3 C A 3: 103,643,395 (GRCm39) G329W probably damaging Het
Or10ag56 T C 2: 87,139,754 (GRCm39) V207A probably benign Het
Or10al2 A G 17: 37,983,301 (GRCm39) Y129C probably benign Het
Or6d15 T A 6: 116,559,916 (GRCm39) probably benign Het
Or9g3 C T 2: 85,584,023 (GRCm39) P106L probably benign Het
Pcsk7 A G 9: 45,820,672 (GRCm39) M35V probably benign Het
Phf14 A G 6: 12,081,006 (GRCm39) N921S probably benign Het
Pla2g4e G A 2: 120,011,982 (GRCm39) S396F possibly damaging Het
Ppp4r4 A T 12: 103,570,841 (GRCm39) K766* probably null Het
Pprc1 T C 19: 46,053,785 (GRCm39) V1105A unknown Het
Prdm9 T G 17: 15,765,497 (GRCm39) N428H probably benign Het
Prkcg C T 7: 3,372,025 (GRCm39) T497I possibly damaging Het
Prkcz A G 4: 155,441,953 (GRCm39) W60R probably damaging Het
Ptprn2 T C 12: 116,822,571 (GRCm39) F217L probably benign Het
Pum2 T A 12: 8,763,906 (GRCm39) Y283* probably null Het
Rest A G 5: 77,415,875 (GRCm39) M30V probably benign Het
Rfxank C T 8: 70,587,957 (GRCm39) R150H probably damaging Het
Ros1 T A 10: 52,042,175 (GRCm39) Q250L probably damaging Het
Sgk2 A G 2: 162,854,987 (GRCm39) D366G probably benign Het
Siglec1 A T 2: 130,922,371 (GRCm39) L568Q probably benign Het
Slain1 AT ATT 14: 103,940,012 (GRCm39) probably null Het
Slc10a5 A T 3: 10,399,375 (GRCm39) Y428* probably null Het
Slc25a54 T C 3: 109,010,085 (GRCm39) W195R probably damaging Het
Slf1 A G 13: 77,239,422 (GRCm39) I414T probably damaging Het
Snx4 C T 16: 33,087,236 (GRCm39) P127L probably damaging Het
Spdl1 A T 11: 34,714,191 (GRCm39) L166H not run Het
Tapt1 C T 5: 44,334,459 (GRCm39) V511I probably benign Het
Tbata A G 10: 61,010,099 (GRCm39) probably benign Het
Tbx4 T A 11: 85,802,835 (GRCm39) V264E probably damaging Het
Tecta A T 9: 42,278,438 (GRCm39) Y1023* probably null Het
Thop1 A G 10: 80,911,465 (GRCm39) D117G probably damaging Het
Trip12 A G 1: 84,792,604 (GRCm39) L13P probably damaging Het
Tut7 T C 13: 59,969,616 (GRCm39) N93S probably benign Het
Unc13b T A 4: 43,237,754 (GRCm39) V637E probably damaging Het
Vinac1 G T 2: 128,879,149 (GRCm39) Q926K unknown Het
Yipf3 T A 17: 46,561,566 (GRCm39) M168K probably damaging Het
Zfp119a A T 17: 56,173,287 (GRCm39) C185* probably null Het
Zfyve21 A T 12: 111,791,485 (GRCm39) I157F possibly damaging Het
Zfyve26 A T 12: 79,286,828 (GRCm39) D2253E 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
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
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'- ACAGTGCACATGTGTACACAC -3'
(R):5'- GGCTGTTCAAGTCAAGTGC -3'

Sequencing Primer
(F):5'- TTGGATAAATAAGAATTGGAGGGTG -3'
(R):5'- AAGTCAAGTGCCATCTGCTG -3'
Posted On 2019-09-13