Incidental Mutation 'R2872:Shoc1'
ID 253860
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 040460-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R2872 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 59093850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 226 (L226R)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect probably damaging
Transcript: ENSMUST00000107547
AA Change: L226R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: L226R

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 0.2991 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 94.5%
  • 20x: 80.3%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,846,002 (GRCm39) C811R possibly damaging Het
Ak8 T C 2: 28,632,732 (GRCm39) I317T possibly damaging Het
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Arhgef10 T C 8: 15,025,093 (GRCm39) probably null Het
Arhgef10 A G 8: 15,025,666 (GRCm39) I459V probably benign Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp12a A G 14: 56,624,407 (GRCm39) R952G possibly damaging Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
Cilk1 A T 9: 78,047,382 (GRCm39) probably null Het
Col12a1 A T 9: 79,606,831 (GRCm39) F531I probably damaging Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Ctnnd1 C T 2: 84,451,232 (GRCm39) V123I possibly damaging Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Het
Gpr156 T A 16: 37,812,585 (GRCm39) V307D probably damaging Het
Gpr35 G A 1: 92,910,848 (GRCm39) V187I probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Hdac10 G T 15: 89,010,059 (GRCm39) Q300K possibly damaging Het
Hdhd2 T C 18: 77,042,702 (GRCm39) F44L probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Ift172 C T 5: 31,415,205 (GRCm39) V1335I probably benign Het
Igsf9b A G 9: 27,233,519 (GRCm39) I340V probably benign Het
Kif1c A G 11: 70,614,907 (GRCm39) E567G probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Myo9b T C 8: 71,743,610 (GRCm39) Y224H probably benign Het
Nlrc3 T C 16: 3,775,190 (GRCm39) D774G possibly damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Nox3 T C 17: 3,733,191 (GRCm39) H240R probably damaging Het
Nsun2 A G 13: 69,777,801 (GRCm39) T425A probably damaging Het
Or10g1 T G 14: 52,648,318 (GRCm39) T4P probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or1o4 A G 17: 37,590,867 (GRCm39) V148A possibly damaging Het
Or52u1 T C 7: 104,237,700 (GRCm39) S230P possibly damaging Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Paqr5 A T 9: 61,876,061 (GRCm39) probably null Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pkd1l2 C T 8: 117,764,903 (GRCm39) V1332I probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Plekhg1 T G 10: 3,913,982 (GRCm39) S1235A probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Polg2 A G 11: 106,666,251 (GRCm39) probably null Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Het
Rapgef6 T A 11: 54,552,001 (GRCm39) F956L probably damaging Het
Rasl12 A G 9: 65,315,605 (GRCm39) N83S probably benign Het
Rel T C 11: 23,711,129 (GRCm39) I13V probably benign Het
Reln C T 5: 22,254,789 (GRCm39) V527I possibly damaging Het
Sel1l3 C T 5: 53,295,225 (GRCm39) W792* probably null Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Slc6a9 T A 4: 117,706,578 (GRCm39) M1K probably null Het
Smpdl3a T A 10: 57,678,626 (GRCm39) F143Y possibly damaging Het
Spsb4 G T 9: 96,878,071 (GRCm39) T84K probably damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Tdpoz3 T A 3: 93,733,735 (GRCm39) F137I probably benign Het
Tgm7 G A 2: 120,940,174 (GRCm39) probably benign Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Tpd52 A T 3: 9,068,466 (GRCm39) Y16* probably null Het
Trpa1 A G 1: 14,957,844 (GRCm39) C705R probably damaging Het
Ttn A G 2: 76,581,195 (GRCm39) S23233P probably damaging Het
Uevld T C 7: 46,597,693 (GRCm39) D154G probably null Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Zfp292 G A 4: 34,808,595 (GRCm39) T1483M 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
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
Predicted Primers PCR Primer
(F):5'- CAACTTCAACCTCAGCTATGGC -3'
(R):5'- TGTGGCCACAGGGTTAGATG -3'

Sequencing Primer
(F):5'- GCTATGGCTGAAACTCATTACTGAG -3'
(R):5'- GTGCTTCATCTCAACTTACACGAGAG -3'
Posted On 2014-12-04