Incidental Mutation 'R6884:Shoc1'
ID 536831
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 044979-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6884 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59059652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1003 (S1003P)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000107547
AA Change: S1003P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: S1003P

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: 98.3%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,407 (GRCm39) probably benign Het
Abca5 C T 11: 110,220,043 (GRCm39) V8M probably damaging Het
Ahnak2 A T 12: 112,741,863 (GRCm39) D736E possibly damaging Het
Brpf3 A G 17: 29,050,324 (GRCm39) D1072G probably benign Het
Cacna1i C T 15: 80,259,010 (GRCm39) R1240C probably damaging Het
Ccdc40 A T 11: 119,133,565 (GRCm39) E568D possibly damaging Het
Col12a1 C T 9: 79,547,091 (GRCm39) G2247E possibly damaging Het
Dapk3 T A 10: 81,027,588 (GRCm39) probably null Het
Dcaf13 T C 15: 38,986,635 (GRCm39) W136R probably damaging Het
Dip2a C A 10: 76,108,366 (GRCm39) probably null Het
Eif3c T C 7: 126,156,051 (GRCm39) D473G probably benign Het
Erich2 G A 2: 70,339,505 (GRCm39) R20H possibly damaging Het
Gcnt7 T C 2: 172,296,125 (GRCm39) N233S probably damaging Het
Gdpd4 G T 7: 97,621,382 (GRCm39) L208F probably damaging Het
Gm10269 T A 18: 20,815,932 (GRCm39) Q30L possibly damaging Het
Gm7298 A T 6: 121,737,480 (GRCm39) I295F possibly damaging Het
Htr7 A G 19: 35,941,779 (GRCm39) probably null Het
Ing1 A G 8: 11,611,916 (GRCm39) Y118C probably damaging Het
Krtap16-1 C T 11: 99,877,284 (GRCm39) W40* probably null Het
Krtap26-1 A T 16: 88,444,467 (GRCm39) D51E probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lrp1 T A 10: 127,394,986 (GRCm39) Q2513L probably benign Het
Morf4l1 A T 9: 89,976,532 (GRCm39) N265K probably damaging Het
Mpp2 T C 11: 101,952,904 (GRCm39) D299G probably benign Het
Mtcl1 C T 17: 66,745,197 (GRCm39) G55R probably damaging Het
Myb T A 10: 21,028,431 (GRCm39) K144I probably damaging Het
Myo18a T C 11: 77,709,875 (GRCm39) I587T possibly damaging Het
Nr2c2 A G 6: 92,135,374 (GRCm39) S288G probably benign Het
Obscn A G 11: 58,969,128 (GRCm39) Y2700H probably damaging Het
Or2z9 T C 8: 72,854,345 (GRCm39) V247A probably benign Het
Or6c3 T A 10: 129,309,023 (GRCm39) F154Y probably damaging Het
Pde6b A G 5: 108,536,574 (GRCm39) D90G probably damaging Het
Pigo A G 4: 43,022,627 (GRCm39) F315L possibly damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Ret T C 6: 118,132,362 (GRCm39) D1026G probably damaging Het
Rptn A T 3: 93,303,096 (GRCm39) Q143L probably benign Het
Rubcnl A G 14: 75,272,910 (GRCm39) E210G probably benign Het
Serpina1b T A 12: 103,698,712 (GRCm39) T46S probably benign Het
Serpinb9e A T 13: 33,435,609 (GRCm39) H14L probably benign Het
Slc25a25 A C 2: 32,310,674 (GRCm39) V168G probably benign Het
Slc35e1 T C 8: 73,238,726 (GRCm39) T261A possibly damaging Het
Spocd1 T C 4: 129,849,197 (GRCm39) probably benign Het
Tmem222 A T 4: 132,995,514 (GRCm39) Y178N probably damaging Het
Top1mt C T 15: 75,535,893 (GRCm39) E470K probably benign Het
Traj42 T C 14: 54,413,290 (GRCm39) probably benign Het
Tshr T C 12: 91,504,876 (GRCm39) Y13H probably damaging Het
Uvssa A G 5: 33,566,461 (GRCm39) probably null Het
Vmn1r28 G A 6: 58,242,633 (GRCm39) V159I probably benign Het
Vmn2r73 T A 7: 85,507,213 (GRCm39) T700S 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
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
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'- ATGATCTGAACAGAACGCCC -3'
(R):5'- AAGGCTCCCTGTTGATGCTG -3'

Sequencing Primer
(F):5'- GTGTGTCACGTGCCTCCAC -3'
(R):5'- GTCTCTTGTTTTATGTCTACTGCAG -3'
Posted On 2018-10-18