Incidental Mutation 'R1599:Shoc1'
ID 176009
Institutional Source Beutler Lab
Gene Symbol Shoc1
Ensembl Gene ENSMUSG00000038598
Gene Name shortage in chiasmata 1
Synonyms Mzip2, Gm426, AI481877, LOC242489
MMRRC Submission 039636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R1599 (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 T at 59072349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 622 (N622K)
Ref Sequence ENSEMBL: ENSMUSP00000103171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107547]
AlphaFold A2ALV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000107547
AA Change: N622K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: N622K

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: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,197,033 (GRCm39) E202G probably damaging Het
Adam23 A G 1: 63,610,092 (GRCm39) D698G possibly damaging Het
Adam3 T C 8: 25,215,377 (GRCm39) D20G possibly damaging Het
Adamts12 T C 15: 11,071,797 (GRCm39) S114P probably damaging Het
Adgrg6 T A 10: 14,343,057 (GRCm39) R297* probably null Het
Ahdc1 A T 4: 132,792,247 (GRCm39) S1163C possibly damaging Het
Axl A G 7: 25,463,394 (GRCm39) Y619H probably damaging Het
Bcl11a G T 11: 24,113,887 (GRCm39) C410F probably damaging Het
Brca2 C A 5: 150,472,178 (GRCm39) S2359* probably null Het
Calca A G 7: 114,233,707 (GRCm39) S75P probably damaging Het
Ccn2 A T 10: 24,473,297 (GRCm39) R279W probably benign Het
Ccpg1 T A 9: 72,906,407 (GRCm39) Y54* probably null Het
Cfap161 A T 7: 83,425,287 (GRCm39) M268K possibly damaging Het
Cfap61 T A 2: 145,854,083 (GRCm39) V365E probably benign Het
Cgnl1 T C 9: 71,548,709 (GRCm39) I1000V probably benign Het
Chd2 A T 7: 73,122,799 (GRCm39) D978E probably benign Het
Cyth1 G A 11: 118,068,047 (GRCm39) T297M probably damaging Het
Dennd1b T G 1: 139,095,468 (GRCm39) D505E probably benign Het
Dgkd A G 1: 87,809,608 (GRCm39) T99A possibly damaging Het
Fam161a A T 11: 22,971,093 (GRCm39) M180L probably benign Het
Gar1 G T 3: 129,624,253 (GRCm39) R80S probably benign Het
Gm28042 T C 2: 119,866,944 (GRCm39) S419P probably benign Het
Gm5591 A C 7: 38,219,794 (GRCm39) C360G probably benign Het
Golga2 A G 2: 32,193,185 (GRCm39) H427R probably benign Het
Gpt2 A G 8: 86,238,863 (GRCm39) Y232C probably damaging Het
Hnrnpll T A 17: 80,361,054 (GRCm39) H118L unknown Het
Ice2 T A 9: 69,318,724 (GRCm39) C303S probably null Het
Ikzf3 C A 11: 98,357,919 (GRCm39) G473C probably damaging Het
Kansl3 A T 1: 36,406,951 (GRCm39) D38E probably damaging Het
Kcna6 A T 6: 126,716,282 (GRCm39) D202E probably benign Het
Klhl21 G A 4: 152,096,757 (GRCm39) G341D probably damaging Het
Klhl29 A T 12: 5,143,538 (GRCm39) V497D probably damaging Het
Kmt2b G A 7: 30,270,000 (GRCm39) L2449F probably damaging Het
Kmt5c A G 7: 4,744,899 (GRCm39) E10G probably damaging Het
Lama3 C T 18: 12,583,457 (GRCm39) Q682* probably null Het
Lamb3 T C 1: 193,002,801 (GRCm39) V82A probably damaging Het
Larp4b C T 13: 9,172,186 (GRCm39) T2I probably damaging Het
Man2a1 T C 17: 64,986,826 (GRCm39) Y613H possibly damaging Het
Mcm3 G A 1: 20,890,422 (GRCm39) T4I probably benign Het
Mki67 C T 7: 135,301,663 (GRCm39) A1124T probably benign Het
Mlh3 A T 12: 85,315,143 (GRCm39) L348I probably damaging Het
Mmrn1 G A 6: 60,922,021 (GRCm39) M159I probably benign Het
Muc5ac A T 7: 141,352,640 (GRCm39) Q709L possibly damaging Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nosip A G 7: 44,723,430 (GRCm39) N32S probably benign Het
Npat T C 9: 53,473,704 (GRCm39) Y499H possibly damaging Het
Nt5c1b T A 12: 10,440,024 (GRCm39) I522N probably damaging Het
Or1j18 G T 2: 36,625,001 (GRCm39) V223F probably benign Het
Or2r3 T A 6: 42,448,176 (GRCm39) K312M probably damaging Het
Or52d3 A G 7: 104,228,855 (GRCm39) M1V probably null Het
Or7g32 T A 9: 19,389,517 (GRCm39) T7S probably damaging Het
Pappa2 A G 1: 158,684,742 (GRCm39) F799S probably damaging Het
Pate5 T C 9: 35,750,333 (GRCm39) N113S probably benign Het
Pcdha1 C T 18: 37,318,290 (GRCm39) T941M probably damaging Het
Pilrb2 A T 5: 137,866,859 (GRCm39) F215I possibly damaging Het
Pkd1l3 G T 8: 110,363,016 (GRCm39) M1092I probably benign Het
Ppp1r21 G T 17: 88,880,055 (GRCm39) V491L probably benign Het
Prickle2 T C 6: 92,387,855 (GRCm39) T516A probably benign Het
Prr27 G T 5: 87,991,084 (GRCm39) R232L probably benign Het
Rab3gap2 C T 1: 184,983,223 (GRCm39) T454I probably benign Het
Rgs11 C A 17: 26,427,223 (GRCm39) H385N probably damaging Het
S1pr5 T A 9: 21,155,230 (GRCm39) T399S probably benign Het
Sacs G A 14: 61,441,087 (GRCm39) M1044I probably benign Het
Sec31b T A 19: 44,511,592 (GRCm39) Q603L possibly damaging Het
Setx G A 2: 29,030,385 (GRCm39) E275K probably benign Het
Sh3tc1 G A 5: 35,864,856 (GRCm39) P444S probably benign Het
Strn3 T A 12: 51,699,549 (GRCm39) N208Y possibly damaging Het
Tmem87a T C 2: 120,224,868 (GRCm39) N131S probably damaging Het
Tmprss13 T A 9: 45,249,616 (GRCm39) W318R probably damaging Het
Trabd2b T C 4: 114,266,178 (GRCm39) V64A probably damaging Het
Trafd1 A T 5: 121,517,720 (GRCm39) N24K probably damaging Het
Ttc41 T C 10: 86,612,437 (GRCm39) S1237P probably benign Het
Ttll1 A G 15: 83,381,555 (GRCm39) V238A probably benign Het
Vps50 T C 6: 3,565,537 (GRCm39) S492P probably benign Het
Zic1 T C 9: 91,243,741 (GRCm39) I409V 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
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
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'- CAGGGCTGTGGGTCTGGAAATAAC -3'
(R):5'- AGGTCATACTCTGCCTGTGAGGAAC -3'

Sequencing Primer
(F):5'- tgggaggcagaggcaag -3'
(R):5'- TTCTCAGCACAGCGTTAGG -3'
Posted On 2014-04-24