Incidental Mutation 'R2076:Shoc1'
ID 229138
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 040081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R2076 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59082410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 406 (V406A)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000107547
AA Change: V406A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: V406A

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
Meta Mutation Damage Score 0.0995 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (61/62)
Allele List at MGI

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

Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,178,478 (GRCm39) V1165D probably benign Het
Acot11 T C 4: 106,627,910 (GRCm39) H103R probably damaging Het
Apba1 G T 19: 23,870,587 (GRCm39) E140* probably null Het
Bicdl1 A T 5: 115,793,987 (GRCm39) I253N probably damaging Het
Ccdc159 T C 9: 21,840,802 (GRCm39) probably null Het
Ccne2 A G 4: 11,197,177 (GRCm39) R160G probably damaging Het
Cct7 A T 6: 85,445,122 (GRCm39) I458F probably damaging Het
Cd3g T A 9: 44,885,595 (GRCm39) D50V probably damaging Het
Ces2h T C 8: 105,745,660 (GRCm39) L461P probably benign Het
Cplane1 T A 15: 8,248,741 (GRCm39) D1763E possibly damaging Het
Csn2 A G 5: 87,844,033 (GRCm39) S19P probably damaging Het
Cyp3a11 A T 5: 145,816,576 (GRCm39) V4D probably benign Het
Ddx3y A G Y: 1,266,593 (GRCm39) probably null Het
Dipk1c G T 18: 84,755,033 (GRCm39) D170Y probably damaging Het
Dlgap1 C T 17: 71,093,826 (GRCm39) Q716* probably null Het
Dlx6 A G 6: 6,867,098 (GRCm39) S234G probably benign Het
Dnah7a T C 1: 53,542,968 (GRCm39) T2401A probably benign Het
Dnah7b T G 1: 46,281,481 (GRCm39) Y2847* probably null Het
Dpysl2 A G 14: 67,102,571 (GRCm39) S30P probably damaging Het
Elp1 T C 4: 56,786,620 (GRCm39) D441G probably damaging Het
Ezh2 A T 6: 47,553,567 (GRCm39) L50* probably null Het
Fam135b T A 15: 71,350,092 (GRCm39) E349D probably damaging Het
Foxl3 A G 5: 138,807,022 (GRCm39) D100G probably benign Het
Frat2 T C 19: 41,836,242 (GRCm39) T37A probably benign Het
Hivep1 G A 13: 42,317,869 (GRCm39) probably null Het
Ift25 T C 4: 107,136,964 (GRCm39) S121P possibly damaging Het
Impdh1 G A 6: 29,205,162 (GRCm39) A213V probably damaging Het
Irf2 G T 8: 47,298,962 (GRCm39) W252L probably damaging Het
Irx4 A G 13: 73,416,384 (GRCm39) D260G probably damaging Het
Kalrn T A 16: 34,152,513 (GRCm39) H338L probably benign Het
Kif9 T A 9: 110,314,100 (GRCm39) probably null Het
Klhl24 T C 16: 19,936,628 (GRCm39) V412A probably damaging Het
Lgals8 T A 13: 12,469,750 (GRCm39) K70* probably null Het
Mrtfb T C 16: 13,219,246 (GRCm39) S631P probably benign Het
Myo1e T A 9: 70,291,159 (GRCm39) N983K probably benign Het
Nipbl T C 15: 8,340,691 (GRCm39) R2010G probably benign Het
Npw A T 17: 24,876,413 (GRCm39) V166D possibly damaging Het
Osbpl5 T C 7: 143,262,881 (GRCm39) Y169C probably damaging Het
Pcdh15 T C 10: 74,178,479 (GRCm39) Y579H probably damaging Het
Pde8a A G 7: 80,958,693 (GRCm39) T330A probably benign Het
Plxnb2 C T 15: 89,042,229 (GRCm39) V1592M probably damaging Het
Ppp2r3d A C 9: 101,021,570 (GRCm39) M955R possibly damaging Het
Ptprk T A 10: 28,465,364 (GRCm39) I1349K probably damaging Het
Rad52 C T 6: 119,888,040 (GRCm39) H9Y probably benign Het
Rapgef1 A G 2: 29,592,520 (GRCm39) Q466R probably benign Het
Rb1cc1 T A 1: 6,320,262 (GRCm39) I1227N possibly damaging Het
Rhbdf1 T C 11: 32,164,088 (GRCm39) M273V probably benign Het
Slc30a3 G T 5: 31,244,165 (GRCm39) Y323* probably null Het
Slc5a9 T C 4: 111,742,770 (GRCm39) I441V possibly damaging Het
Spast G C 17: 74,659,026 (GRCm39) G131A probably damaging Het
Syne1 C G 10: 4,990,897 (GRCm39) W8444S probably damaging Het
Tgm4 G T 9: 122,880,160 (GRCm39) A211S probably benign Het
Themis2 T C 4: 132,513,113 (GRCm39) D371G probably damaging Het
Tmem132e T A 11: 82,325,894 (GRCm39) I206N possibly damaging Het
Uba3 G T 6: 97,176,241 (GRCm39) D88E probably damaging Het
Vmn1r230 T A 17: 21,067,144 (GRCm39) M111K probably damaging Het
Wdr35 C T 12: 9,074,281 (GRCm39) H971Y possibly damaging Het
Yeats2 C A 16: 20,005,032 (GRCm39) H356Q possibly damaging Het
Zfp180 A G 7: 23,804,528 (GRCm39) K316E probably damaging Het
Zfp518a T C 19: 40,902,771 (GRCm39) L900P probably damaging Het
Zfp655 A G 5: 145,181,410 (GRCm39) N423D possibly damaging Het
Zfp932 A G 5: 110,157,334 (GRCm39) Q344R 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
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
Predicted Primers PCR Primer
(F):5'- GTATTGGACATCTCATATGAGTGGTC -3'
(R):5'- TGGAATTTCACCATTTCCTACTGTG -3'

Sequencing Primer
(F):5'- GTGGTCACACAAGCTCACTTCTG -3'
(R):5'- TCACCATTTCCTACTGTGTAAAATAC -3'
Posted On 2014-09-17