Incidental Mutation 'R2170:Shoc1'
ID 237416
Institutional Source Beutler Lab
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 # R2170 (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 G at 59069215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 737 (L737S)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000107547
AA Change: L737S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: L737S

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,896 (GRCm39) S404P probably damaging Het
4933434E20Rik T A 3: 89,963,611 (GRCm39) L89Q probably benign Het
Atxn2l T A 7: 126,102,411 (GRCm39) probably benign Het
Bcl6 A G 16: 23,793,680 (GRCm39) F89S probably damaging Het
Ccdc168 A T 1: 44,095,168 (GRCm39) S1977T probably benign Het
Ccr1l1 C A 9: 123,778,172 (GRCm39) V92F possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Chrne T C 11: 70,509,323 (GRCm39) N86S probably damaging Het
Copg2 CCTCATC CC 6: 30,789,757 (GRCm39) probably null Het
Elapor2 A G 5: 9,529,206 (GRCm39) D221G probably damaging Het
Eps8l2 T C 7: 140,921,984 (GRCm39) S21P probably benign Het
Glb1 CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 9: 114,302,873 (GRCm39) probably benign Het
Gngt2 A G 11: 95,728,071 (GRCm39) probably benign Het
Hecw2 T A 1: 53,981,956 (GRCm39) E135V probably damaging Het
Hmcn2 G A 2: 31,270,293 (GRCm39) A1177T probably benign Het
Itga10 T C 3: 96,557,773 (GRCm39) V272A probably damaging Het
Kif17 A G 4: 138,015,682 (GRCm39) I418M probably benign Het
Knl1 T C 2: 118,918,075 (GRCm39) probably null Het
Lamc1 C T 1: 153,124,888 (GRCm39) A628T probably benign Het
Mag A T 7: 30,608,412 (GRCm39) L234* probably null Het
Muc5ac T A 7: 141,366,084 (GRCm39) V2080E possibly damaging Het
Myo18b T C 5: 112,871,724 (GRCm39) D2119G probably benign Het
Ncam1 C T 9: 49,709,981 (GRCm39) A17T probably benign Het
Nipbl A G 15: 8,322,702 (GRCm39) Y2570H probably damaging Het
Oasl2 T C 5: 115,044,861 (GRCm39) V129A probably damaging Het
Or14a257 T A 7: 86,137,778 (GRCm39) H327L probably benign Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Podn A T 4: 107,879,730 (GRCm39) L85Q probably damaging Het
Ppp1r12c A T 7: 4,485,805 (GRCm39) D680E possibly damaging Het
Prdm14 G A 1: 13,192,684 (GRCm39) L352F probably damaging Het
Prob1 G T 18: 35,787,790 (GRCm39) Q155K probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Stard5 A G 7: 83,282,366 (GRCm39) T60A probably benign Het
Syt7 A G 19: 10,416,744 (GRCm39) K402E probably damaging Het
Tll2 T A 19: 41,171,714 (GRCm39) D69V probably damaging Het
Vmn1r40 T C 6: 89,691,957 (GRCm39) F258S probably benign Het
Zfp759 T A 13: 67,284,812 (GRCm39) Y19N 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
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
Predicted Primers PCR Primer
(F):5'- AAGAGGTCTTGAATTTGATCCCTAG -3'
(R):5'- GCTGTCACTGTTAATCAGATCTG -3'

Sequencing Primer
(F):5'- CTTGAATTTGATCCCTAGTGCTG -3'
(R):5'- AGGCATGCTGCTCTCTT -3'
Posted On 2014-10-02