Incidental Mutation 'R8198:Shoc1'
ID 635528
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 067621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R8198 (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 59065174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 814 (I814V)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect probably benign
Transcript: ENSMUST00000107547
AA Change: I814V

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: I814V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (47/47)
Allele List at MGI

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

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik T C 14: 41,825,017 (GRCm39) *168R probably null Het
Adgrb1 C A 15: 74,411,094 (GRCm39) T330K probably damaging Het
Ankrd27 T C 7: 35,307,880 (GRCm39) V373A probably benign Het
Aoah C T 13: 21,101,290 (GRCm39) P270L probably damaging Het
AU041133 C G 10: 81,987,249 (GRCm39) P301A probably damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Cd2bp2 A G 7: 126,793,576 (GRCm39) S204P possibly damaging Het
Clca4b C A 3: 144,638,167 (GRCm39) G32C probably damaging Het
Clcn2 A G 16: 20,525,946 (GRCm39) V808A probably damaging Het
Clec4d T C 6: 123,244,965 (GRCm39) C82R probably damaging Het
Dennd1c T C 17: 57,373,460 (GRCm39) D671G possibly damaging Het
Eml5 G A 12: 98,825,145 (GRCm39) R691* probably null Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Gm4922 T C 10: 18,659,340 (GRCm39) T461A probably benign Het
Gm9964 A G 11: 79,187,405 (GRCm39) V14A unknown Het
Gnb3 T C 6: 124,814,000 (GRCm39) Y196C probably benign Het
H4c2 C G 13: 23,941,283 (GRCm39) Q94E possibly damaging Het
Hps1 C T 19: 42,755,659 (GRCm39) R189Q probably benign Het
Iars2 G A 1: 185,029,703 (GRCm39) T638I probably benign Het
Itpripl2 A G 7: 118,089,819 (GRCm39) S247P probably damaging Het
Leng8 C A 7: 4,147,170 (GRCm39) R523S possibly damaging Het
Lhfpl3 T A 5: 23,478,333 (GRCm39) V72D probably benign Het
Lmntd2 A T 7: 140,791,134 (GRCm39) M426K possibly damaging Het
Lsg1 A T 16: 30,383,594 (GRCm39) V542E probably benign Het
Mphosph6 C T 8: 118,519,449 (GRCm39) V108I probably benign Het
Mta2 A G 19: 8,925,145 (GRCm39) T338A probably benign Het
Ncoa7 T C 10: 30,580,664 (GRCm39) N98S probably benign Het
Or52h7 T A 7: 104,214,140 (GRCm39) D237E probably benign Het
Or7a36 C A 10: 78,820,443 (GRCm39) T273K probably benign Het
Or7a42 T A 10: 78,791,558 (GRCm39) V173E probably damaging Het
Pgr T C 9: 8,958,411 (GRCm39) V806A possibly damaging Het
Rad54b T C 4: 11,612,440 (GRCm39) probably null Het
Sdad1 A T 5: 92,439,811 (GRCm39) C405S probably damaging Het
Semp2l2a T A 8: 13,887,056 (GRCm39) Y345F probably benign Het
Smg1 T C 7: 117,744,829 (GRCm39) I3108V probably benign Het
Spink5 A T 18: 44,125,947 (GRCm39) I409F probably benign Het
Syt13 C A 2: 92,783,899 (GRCm39) L390M probably damaging Het
Taf5 T A 19: 47,064,212 (GRCm39) V385E probably damaging Het
Tdrd9 T A 12: 112,006,863 (GRCm39) V909E probably damaging Het
Tex9 G A 9: 72,387,940 (GRCm39) probably benign Het
Timm10b G T 7: 105,327,537 (GRCm39) E61* probably null Het
Tmprss11g A T 5: 86,646,352 (GRCm39) F72I probably benign Het
Trank1 T C 9: 111,219,880 (GRCm39) C2206R probably benign Het
Uba52rt C A 4: 3,973,346 (GRCm39) R72L probably benign Het
Unc45b GC G 11: 82,816,814 (GRCm39) probably null Het
Unc93b1 T C 19: 3,991,910 (GRCm39) S215P possibly damaging Het
Usp48 C T 4: 137,348,470 (GRCm39) probably benign Het
Vmn1r81 A G 7: 11,993,882 (GRCm39) V242A possibly damaging Het
Zgrf1 T A 3: 127,389,673 (GRCm39) probably null 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
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
R8979:Shoc1 UTSW 4 59,047,276 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- ATTTGAGCAACTGGAGAATCAAACC -3'
(R):5'- TGATCACTGTGGCAAAACTGTGG -3'

Sequencing Primer
(F):5'- CAATAGAGAAACTGCACTGAGTC -3'
(R):5'- AATTATCCAGCTGGGGCAC -3'
Posted On 2020-07-13