Incidental Mutation 'R4454:Shoc1'
ID 329077
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 041714-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R4454 (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 59092383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 266 (D266G)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000107547
AA Change: D266G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: D266G

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
Allele List at MGI

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

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T A 2: 126,889,061 (GRCm39) F509I probably damaging Het
Asmt A T X: 169,106,456 (GRCm39) M19L probably benign Het
Atf6 C T 1: 170,621,608 (GRCm39) R471Q probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baiap3 T A 17: 25,468,510 (GRCm39) D250V probably damaging Het
C2cd4d T A 3: 94,271,054 (GRCm39) F107I probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Cldn6 T C 17: 23,900,060 (GRCm39) probably null Het
Cpa5 A G 6: 30,626,323 (GRCm39) N228S possibly damaging Het
Cracdl T C 1: 37,663,834 (GRCm39) E163G probably damaging Het
Crocc T C 4: 140,747,716 (GRCm39) S1478G possibly damaging Het
Csmd1 A T 8: 15,995,011 (GRCm39) C2675S probably damaging Het
Cthrc1 C A 15: 38,940,408 (GRCm39) Q4K probably benign Het
Ddo A T 10: 40,523,543 (GRCm39) I178F probably damaging Het
Dmxl1 A G 18: 50,026,399 (GRCm39) T1836A probably benign Het
Dnah9 T G 11: 66,038,215 (GRCm39) Q107P probably damaging Het
Dusp26 A G 8: 31,584,172 (GRCm39) N93S probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Epha5 T C 5: 84,304,303 (GRCm39) I501V probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fgd5 C T 6: 91,966,167 (GRCm39) S642F probably damaging Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gm12034 T A 11: 20,396,476 (GRCm39) noncoding transcript Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Mbd3 A T 10: 80,229,817 (GRCm39) L164H probably damaging Het
Med4 A G 14: 73,755,502 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nav2 A T 7: 49,198,292 (GRCm39) probably null Het
Or4k1 T C 14: 50,377,953 (GRCm39) I48V probably benign Het
Or8b1b C A 9: 38,375,938 (GRCm39) F200L probably benign Het
Pcdha11 G A 18: 37,140,426 (GRCm39) G685D probably benign Het
Pgc A G 17: 48,043,335 (GRCm39) I228V probably benign Het
Pramel25 A G 4: 143,519,394 (GRCm39) S52G probably benign Het
Rad51 C T 2: 118,962,049 (GRCm39) H199Y probably damaging Het
Robo2 A T 16: 74,149,407 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,413 (GRCm39) T861I probably damaging Het
Sh3tc2 A T 18: 62,140,844 (GRCm39) D1061V probably damaging Het
Snapc3 A G 4: 83,336,996 (GRCm39) E119G probably damaging Het
Sspo G A 6: 48,464,159 (GRCm39) G3862D probably benign Het
Tbc1d16 G A 11: 119,048,699 (GRCm39) T318M possibly damaging Het
Thrb T A 14: 18,011,187 (GRCm38) W188R probably damaging Het
Thsd1 T C 8: 22,733,594 (GRCm39) Y214H probably damaging Het
Tnfrsf13b T C 11: 61,032,264 (GRCm39) V98A probably benign Het
Topbp1 T C 9: 103,222,070 (GRCm39) Y1314H probably damaging Het
Ttn C A 2: 76,616,150 (GRCm39) V8271L possibly damaging Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utrn G T 10: 12,603,584 (GRCm39) Q599K possibly damaging Het
Zfp995 G A 17: 22,098,932 (GRCm39) T434I probably benign Het
Zfy1 G T Y: 725,518 (GRCm39) T749K 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGAACTGCAATAACAAGGTTTGTG -3'
(R):5'- GTGTGCCATTTAAACAAACATCC -3'

Sequencing Primer
(F):5'- GAGTCATGGTTTCTCTGTACAAC -3'
(R):5'- GCCATTTAAACAAACATCCATTTAGG -3'
Posted On 2015-07-21