Incidental Mutation 'IGL03112:Shoc1'
ID 419228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL03112
Quality Score
Status
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59049355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1069 (Q1069K)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect probably benign
Transcript: ENSMUST00000107547
AA Change: Q1069K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: Q1069K

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
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,974,549 (GRCm39) N151S probably benign Het
Adgre1 G A 17: 57,755,029 (GRCm39) probably null Het
Apol11a T A 15: 77,401,509 (GRCm39) L332Q probably damaging Het
B430306N03Rik C T 17: 48,623,834 (GRCm39) S45L probably benign Het
Cend1 G A 7: 141,007,640 (GRCm39) T60M probably benign Het
Col6a3 C A 1: 90,739,242 (GRCm39) E329* probably null Het
Col9a3 A G 2: 180,249,435 (GRCm39) R266G possibly damaging Het
Defb48 C T 14: 63,221,854 (GRCm39) probably benign Het
Eps8l2 T G 7: 140,941,649 (GRCm39) L640R probably damaging Het
Exoc2 T A 13: 31,090,570 (GRCm39) probably benign Het
Fam149a C T 8: 45,801,580 (GRCm39) V514M possibly damaging Het
Fbxo25 A T 8: 13,971,034 (GRCm39) D74V probably benign Het
Gm11733 A G 11: 117,377,966 (GRCm39) *126W probably null Het
Grm8 C T 6: 27,363,262 (GRCm39) C751Y probably damaging Het
Kctd16 A T 18: 40,391,853 (GRCm39) D147V probably benign Het
Lclat1 A T 17: 73,546,742 (GRCm39) T220S probably damaging Het
Lgi1 T A 19: 38,272,478 (GRCm39) H116Q possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Lsm4 T A 8: 71,130,656 (GRCm39) I60N probably damaging Het
Morn1 T A 4: 155,177,601 (GRCm39) Y178N probably damaging Het
Mybl2 A G 2: 162,904,456 (GRCm39) E89G probably damaging Het
Myo18b T C 5: 113,021,856 (GRCm39) E512G probably benign Het
Myrfl A T 10: 116,639,311 (GRCm39) S583T probably benign Het
Nek6 A G 2: 38,450,914 (GRCm39) I106V probably damaging Het
Oas1a A T 5: 121,036,412 (GRCm39) D338E possibly damaging Het
Or10ag52 T A 2: 87,043,944 (GRCm39) I236N probably damaging Het
Or4a76 G A 2: 89,460,678 (GRCm39) T188I probably benign Het
Or6c1 A G 10: 129,517,792 (GRCm39) V272A probably benign Het
Pitrm1 C A 13: 6,615,044 (GRCm39) Q508K probably benign Het
S100b A G 10: 76,095,808 (GRCm39) D62G probably damaging Het
Sesn3 A G 9: 14,221,557 (GRCm39) H119R probably damaging Het
Sez6l T A 5: 112,621,333 (GRCm39) E247V probably damaging Het
Shq1 C A 6: 100,550,574 (GRCm39) E455* probably null Het
Slc9b1 T A 3: 135,103,433 (GRCm39) M521K probably damaging Het
Supt16 A G 14: 52,413,855 (GRCm39) F543L probably damaging Het
Tcf25 T C 8: 124,109,258 (GRCm39) probably benign Het
Usp48 C A 4: 137,335,375 (GRCm39) Q183K probably damaging Het
Vmn1r178 G A 7: 23,593,086 (GRCm39) G45S probably damaging Het
Vmn1r237 T A 17: 21,534,368 (GRCm39) Y30* 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
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
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
Posted On 2016-08-02