Incidental Mutation 'R6230:Shoc1'
ID 504609
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 044359-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6230 (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 59099345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 116 (N116D)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect probably benign
Transcript: ENSMUST00000107547
AA Change: N116D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: N116D

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: ENSMUST00000122832
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.1%
Validation Efficiency 100% (49/49)
Allele List at MGI

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

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp T C 2: 168,024,452 (GRCm39) T948A probably benign Het
Arhgef12 T C 9: 42,900,261 (GRCm39) I871V probably benign Het
Atf1 T C 15: 100,130,705 (GRCm39) V25A possibly damaging Het
Atp23 G A 10: 126,723,431 (GRCm39) H224Y probably benign Het
Ccpg1 A G 9: 72,919,638 (GRCm39) T418A probably benign Het
Col27a1 T C 4: 63,142,519 (GRCm39) I69T probably damaging Het
Cspp1 T C 1: 10,147,422 (GRCm39) S328P probably benign Het
Cttnbp2nl C T 3: 104,918,655 (GRCm39) E62K probably damaging Het
Cyp2c39 T C 19: 39,525,246 (GRCm39) F183S probably damaging Het
Dync2li1 T C 17: 84,955,078 (GRCm39) S246P probably damaging Het
Ext2 A G 2: 93,592,965 (GRCm39) I413T probably damaging Het
Fam174a T C 1: 95,241,951 (GRCm39) V137A probably damaging Het
Flg T A 3: 93,186,782 (GRCm39) V78E probably damaging Het
Fn3krp C A 11: 121,316,418 (GRCm39) H111N probably damaging Het
Focad T C 4: 88,260,441 (GRCm39) I899T unknown Het
Foxq1 T C 13: 31,743,491 (GRCm39) Y198H probably damaging Het
Gm21060 A T 19: 61,285,449 (GRCm39) M20K probably benign Het
Kif16b A T 2: 142,691,832 (GRCm39) N217K probably damaging Het
Klkb1 A G 8: 45,736,252 (GRCm39) Y162H probably benign Het
Kntc1 T A 5: 123,927,072 (GRCm39) probably null Het
Madd C T 2: 90,973,866 (GRCm39) probably null Het
Mast2 T A 4: 116,183,295 (GRCm39) H258L probably damaging Het
Musk T C 4: 58,367,576 (GRCm39) V598A probably damaging Het
Nexn T A 3: 151,943,912 (GRCm39) Q539L probably damaging Het
Nf2 T C 11: 4,758,262 (GRCm39) K130E possibly damaging Het
Nlrp14 A T 7: 106,781,024 (GRCm39) I74F probably benign Het
Omg T C 11: 79,393,784 (GRCm39) I25V probably benign Het
Or56b35 A G 7: 104,963,289 (GRCm39) H26R possibly damaging Het
Or8b54 T G 9: 38,687,073 (GRCm39) I174S possibly damaging Het
Parp4 A G 14: 56,844,990 (GRCm39) D627G probably damaging Het
Pdia6 A G 12: 17,327,214 (GRCm39) E126G probably benign Het
Ppp1r2 T A 16: 31,079,418 (GRCm39) D127V possibly damaging Het
Pramel17 T A 4: 101,694,411 (GRCm39) E157D probably damaging Het
Rgs22 A G 15: 36,100,176 (GRCm39) S304P probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Ryr2 T C 13: 11,674,993 (GRCm39) Y3378C probably damaging Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Smurf2 T C 11: 106,759,330 (GRCm39) probably null Het
Tanc1 T C 2: 59,672,375 (GRCm39) F1348L probably damaging Het
Tars3 A T 7: 65,336,184 (GRCm39) probably null Het
Tmem213 A T 6: 38,091,551 (GRCm39) S52C probably damaging Het
Ttn T C 2: 76,749,778 (GRCm39) D3757G probably benign Het
Usp16 C T 16: 87,261,686 (GRCm39) P101S possibly damaging Het
Usp19 G A 9: 108,379,140 (GRCm39) M1318I probably damaging Het
Vmn1r75 G A 7: 11,614,966 (GRCm39) A233T probably damaging Het
Vsir A T 10: 60,193,857 (GRCm39) N107Y probably damaging Het
Zfp160 T C 17: 21,246,707 (GRCm39) V419A probably benign Het
Zfp808 A T 13: 62,320,136 (GRCm39) H455L probably benign 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
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'- AGGATCAAATCTGTACAGGTTACC -3'
(R):5'- AGTGTCCACTGGAATTTGGC -3'

Sequencing Primer
(F):5'- CTGTACAGGTTACCTTGAGTTTAAGC -3'
(R):5'- GTCCACTGGAATTTGGCAAAATTTCC -3'
Posted On 2018-02-28