Incidental Mutation 'R1832:Shoc1'
ID 204850
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 039859-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R1832 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 59043753-59138983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 59066441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 768 (I768L)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect probably benign
Transcript: ENSMUST00000107547
AA Change: I768L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: I768L

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
Meta Mutation Damage Score 0.0632 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.7%
Validation Efficiency 100% (82/82)
Allele List at MGI

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

Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
Abca8a A T 11: 109,962,277 (GRCm39) N525K probably damaging Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adamts20 A T 15: 94,184,225 (GRCm39) M1526K probably benign Het
Ankdd1a A T 9: 65,411,771 (GRCm39) probably null Het
Ankrd1 C T 19: 36,092,378 (GRCm39) C283Y possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Bhlhe22 G A 3: 18,109,139 (GRCm39) C63Y probably damaging Het
Bmp8a A T 4: 123,218,885 (GRCm39) probably benign Het
Ccdc148 A T 2: 58,891,911 (GRCm39) S235T probably damaging Het
Ccdc88b G A 19: 6,830,900 (GRCm39) Q681* probably null Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Chac2 T C 11: 30,927,568 (GRCm39) N117S probably benign Het
Cimap3 C T 3: 105,921,912 (GRCm39) E4K possibly damaging Het
Cldn8 T A 16: 88,359,746 (GRCm39) I60F probably benign Het
Col16a1 G A 4: 129,970,850 (GRCm39) probably null Het
Col4a1 A G 8: 11,264,644 (GRCm39) probably benign Het
Cyp2a4 G T 7: 26,011,635 (GRCm39) E285D probably damaging Het
Cyp4a31 G A 4: 115,426,928 (GRCm39) G176D probably benign Het
Dmxl2 A C 9: 54,368,233 (GRCm39) Y246D probably damaging Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Dync2i1 T A 12: 116,171,363 (GRCm39) S958C probably damaging Het
Eif3h T C 15: 51,728,832 (GRCm39) T8A possibly damaging Het
Fbh1 G T 2: 11,772,211 (GRCm39) L157I probably benign Het
Fbxo40 C A 16: 36,789,218 (GRCm39) G631* probably null Het
Gabrb1 T A 5: 72,279,281 (GRCm39) probably null Het
Galc A G 12: 98,200,499 (GRCm39) probably null Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Igkv13-54-1 A T 6: 69,594,277 (GRCm39) M31L probably benign Het
Lamc2 C T 1: 153,041,933 (GRCm39) R67Q possibly damaging Het
Lcn10 A G 2: 25,575,151 (GRCm39) D173G probably damaging Het
Llgl2 G T 11: 115,741,926 (GRCm39) R656L probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ly6d T C 15: 74,634,615 (GRCm39) K46E probably damaging Het
Map3k5 A G 10: 19,975,306 (GRCm39) N88D probably damaging Het
Mertk A T 2: 128,604,132 (GRCm39) E422V probably benign Het
Mixl1 A G 1: 180,522,296 (GRCm39) V195A probably benign Het
Nmnat3 T C 9: 98,281,521 (GRCm39) V41A probably damaging Het
Or1r1 A T 11: 73,875,319 (GRCm39) N38K probably damaging Het
Or2a7 A G 6: 43,151,834 (GRCm39) R305G probably benign Het
Or7g34 A G 9: 19,478,492 (GRCm39) Y63H possibly damaging Het
Pappa2 T A 1: 158,684,886 (GRCm39) E751V probably damaging Het
Pcsk2 A G 2: 143,635,189 (GRCm39) S355G probably damaging Het
Pdzd2 A G 15: 12,390,134 (GRCm39) V821A probably damaging Het
Plxna4 A C 6: 32,174,761 (GRCm39) D1109E probably benign Het
Ppard A G 17: 28,516,084 (GRCm39) M103V probably benign Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Ralgapa1 T C 12: 55,804,752 (GRCm39) T515A probably benign Het
Rin2 A G 2: 145,703,091 (GRCm39) I596V possibly damaging Het
Rnls A G 19: 33,145,895 (GRCm39) S75P possibly damaging Het
Rsph10b A T 5: 143,903,997 (GRCm39) Y236F possibly damaging Het
Runx1t1 C T 4: 13,835,628 (GRCm39) probably benign Het
Sardh A G 2: 27,125,581 (GRCm39) V311A possibly damaging Het
Sbno2 G T 10: 79,896,439 (GRCm39) Y889* probably null Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4g T A 19: 44,987,456 (GRCm39) V534E probably benign Het
Slc10a1 G A 12: 81,000,446 (GRCm39) S351F probably benign Het
Slc19a3 A T 1: 83,000,468 (GRCm39) V183E probably damaging Het
Slc25a12 A G 2: 71,164,054 (GRCm39) Y74H possibly damaging Het
Slc6a19 T A 13: 73,841,069 (GRCm39) I114L probably benign Het
Smpd2 A T 10: 41,364,232 (GRCm39) C189S probably benign Het
Spon1 T A 7: 113,616,018 (GRCm39) V295D probably benign Het
Tet3 A G 6: 83,380,627 (GRCm39) S514P probably benign Het
Tnk1 T C 11: 69,747,754 (GRCm39) I49M probably damaging Het
Trim80 A G 11: 115,337,619 (GRCm39) T431A probably benign Het
Vgf A T 5: 137,060,153 (GRCm39) Q105L possibly damaging Het
Vmn1r37 G T 6: 66,708,780 (GRCm39) L135F probably benign Het
Vps37d C T 5: 135,102,594 (GRCm39) A128T possibly damaging Het
Wwp1 T C 4: 19,650,197 (GRCm39) D323G probably benign Het
Zfp456 T A 13: 67,515,482 (GRCm39) I75L probably benign Het
Zfp990 A G 4: 145,264,780 (GRCm39) I593V 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
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
Predicted Primers PCR Primer
(F):5'- CTGTCAAGGGCCAAACATAGC -3'
(R):5'- CAGGACTAAGTGAAATGTTAACTGG -3'

Sequencing Primer
(F):5'- GGCCAAACATAGCCTATCTTATAAC -3'
(R):5'- CAGGCAATTGCTATCGATCG -3'
Posted On 2014-06-23