Incidental Mutation 'R7420:Shc3'
ID 575627
Institutional Source Beutler Lab
Gene Symbol Shc3
Ensembl Gene ENSMUSG00000021448
Gene Name src homology 2 domain-containing transforming protein C3
Synonyms ShcC, Rai, N-Shc
MMRRC Submission 045498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7420 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 51585077-51723523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51585271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 448 (N448S)
Ref Sequence ENSEMBL: ENSMUSP00000021898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021898] [ENSMUST00000223543]
AlphaFold Q61120
Predicted Effect probably benign
Transcript: ENSMUST00000021898
AA Change: N448S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000021898
Gene: ENSMUSG00000021448
AA Change: N448S

DomainStartEndE-ValueType
PTB 30 194 5.36e-41 SMART
SH2 377 456 6.38e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000223543
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 95% (54/57)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,141,303 (GRCm39) V6A probably benign Het
Adam29 T A 8: 56,325,933 (GRCm39) M174L probably benign Het
Ano1 G A 7: 144,209,378 (GRCm39) T274I probably benign Het
Atad5 A T 11: 79,986,688 (GRCm39) T592S probably benign Het
Bud13 C T 9: 46,199,113 (GRCm39) P158L probably benign Het
Card19 T C 13: 49,361,613 (GRCm39) Y6C probably damaging Het
Cd36 C G 5: 17,993,272 (GRCm39) V393L probably benign Het
Cd79a A T 7: 24,596,971 (GRCm39) R9* probably null Het
Cep164 T C 9: 45,679,840 (GRCm39) H1131R probably benign Het
Chia1 T A 3: 106,037,980 (GRCm39) S321T probably benign Het
Chrnd T A 1: 87,122,543 (GRCm39) V217E possibly damaging Het
Cmtm7 T C 9: 114,592,462 (GRCm39) probably null Het
Csn1s2a T C 5: 87,927,865 (GRCm39) S60P possibly damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Dnah2 C T 11: 69,369,623 (GRCm39) A1618T possibly damaging Het
Dnah9 A G 11: 66,008,233 (GRCm39) probably null Het
Epn1 A T 7: 5,100,687 (GRCm39) T546S possibly damaging Het
Fam135a A G 1: 24,051,567 (GRCm39) S1443P possibly damaging Het
Fam13b G T 18: 34,627,664 (GRCm39) P179Q probably damaging Het
Git2 T C 5: 114,868,431 (GRCm39) T647A probably benign Het
Gli2 T C 1: 118,763,669 (GRCm39) N1494S probably benign Het
Gm4952 G A 19: 12,604,265 (GRCm39) G226R probably damaging Het
Gm5460 T A 14: 33,758,714 (GRCm39) F156I probably damaging Het
Heatr5b A T 17: 79,115,909 (GRCm39) V849D probably damaging Het
Hepacam A G 9: 37,292,005 (GRCm39) D111G probably benign Het
Hk1 T C 10: 62,105,761 (GRCm39) D895G probably damaging Het
Irag1 A T 7: 110,470,680 (GRCm39) Y678* probably null Het
Kdm5b T C 1: 134,532,235 (GRCm39) V471A probably benign Het
Klhdc8b A G 9: 108,326,317 (GRCm39) Y239H possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt82 T C 15: 101,454,022 (GRCm39) T229A probably damaging Het
Lrrc37 A T 11: 103,504,451 (GRCm39) S2506T probably benign Het
Lztr1 T C 16: 17,341,993 (GRCm39) L656P probably damaging Het
Mfrp T C 9: 44,013,773 (GRCm39) probably benign Het
Nfe2l1 A G 11: 96,710,739 (GRCm39) S497P probably benign Het
Or2ag1b G A 7: 106,288,227 (GRCm39) A237V possibly damaging Het
Or8b44 G T 9: 38,410,359 (GRCm39) L131F probably benign Het
Otud4 C A 8: 80,390,737 (GRCm39) T418K probably benign Het
Pcdhb21 A G 18: 37,648,256 (GRCm39) N462D probably damaging Het
Plch1 A G 3: 63,630,278 (GRCm39) S497P probably damaging Het
Plekha8 T C 6: 54,590,179 (GRCm39) V48A probably damaging Het
Ppp2r5d A T 17: 46,998,507 (GRCm39) F121L probably null Het
Prxl2c C T 13: 64,445,131 (GRCm39) G164D possibly damaging Het
Sdad1 G A 5: 92,453,596 (GRCm39) A64V possibly damaging Het
Selenop G T 15: 3,309,052 (GRCm39) A335S probably damaging Het
Shcbp1 G A 8: 4,798,737 (GRCm39) T394I probably benign Het
Slc39a11 G T 11: 113,138,648 (GRCm39) A276E probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Speg T A 1: 75,407,549 (GRCm39) S3185R probably damaging Het
Tmem100 A T 11: 89,926,579 (GRCm39) *135Y probably null Het
Ube2o A T 11: 116,430,898 (GRCm39) F1001I probably damaging Het
Usp7 T C 16: 8,527,985 (GRCm39) D148G probably benign Het
Vmn2r16 A G 5: 109,511,736 (GRCm39) T648A probably damaging Het
Vmn2r67 A G 7: 84,785,944 (GRCm39) L687P possibly damaging Het
Zcchc14 ACCGCCGCCGCCGCCGCC ACCGCCGCCGCCGCC 8: 122,378,530 (GRCm39) probably benign Het
Zfp800 A G 6: 28,243,718 (GRCm39) S416P probably benign Het
Other mutations in Shc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Shc3 APN 13 51,615,379 (GRCm39) missense probably damaging 0.98
IGL00914:Shc3 APN 13 51,634,263 (GRCm39) splice site probably benign
IGL01417:Shc3 APN 13 51,585,200 (GRCm39) missense probably benign 0.10
IGL01536:Shc3 APN 13 51,670,595 (GRCm39) missense probably damaging 1.00
Massless UTSW 13 51,597,009 (GRCm39) missense possibly damaging 0.92
Singularity UTSW 13 51,596,856 (GRCm39) splice site probably null
R0499:Shc3 UTSW 13 51,634,264 (GRCm39) splice site probably benign
R0941:Shc3 UTSW 13 51,634,242 (GRCm39) missense probably benign
R1652:Shc3 UTSW 13 51,626,875 (GRCm39) missense probably damaging 0.99
R1739:Shc3 UTSW 13 51,636,952 (GRCm39) missense probably damaging 0.97
R1750:Shc3 UTSW 13 51,603,328 (GRCm39) missense probably damaging 1.00
R1817:Shc3 UTSW 13 51,626,888 (GRCm39) missense possibly damaging 0.93
R1848:Shc3 UTSW 13 51,615,424 (GRCm39) missense probably damaging 1.00
R1991:Shc3 UTSW 13 51,596,872 (GRCm39) missense probably benign 0.01
R2103:Shc3 UTSW 13 51,596,872 (GRCm39) missense probably benign 0.01
R4426:Shc3 UTSW 13 51,634,130 (GRCm39) splice site probably null
R4434:Shc3 UTSW 13 51,603,302 (GRCm39) missense probably benign 0.00
R4823:Shc3 UTSW 13 51,605,606 (GRCm39) missense probably benign
R4933:Shc3 UTSW 13 51,596,805 (GRCm39) missense probably benign 0.03
R4998:Shc3 UTSW 13 51,596,856 (GRCm39) splice site probably null
R5153:Shc3 UTSW 13 51,615,413 (GRCm39) missense probably damaging 1.00
R5200:Shc3 UTSW 13 51,670,601 (GRCm39) missense probably damaging 1.00
R5659:Shc3 UTSW 13 51,670,630 (GRCm39) missense probably damaging 1.00
R6035:Shc3 UTSW 13 51,615,468 (GRCm39) missense probably damaging 1.00
R6035:Shc3 UTSW 13 51,615,468 (GRCm39) missense probably damaging 1.00
R6346:Shc3 UTSW 13 51,605,651 (GRCm39) missense possibly damaging 0.93
R6434:Shc3 UTSW 13 51,603,326 (GRCm39) missense probably damaging 1.00
R6457:Shc3 UTSW 13 51,636,915 (GRCm39) splice site probably null
R6580:Shc3 UTSW 13 51,596,809 (GRCm39) missense probably benign
R6597:Shc3 UTSW 13 51,597,009 (GRCm39) missense possibly damaging 0.92
R6906:Shc3 UTSW 13 51,620,595 (GRCm39) missense probably damaging 0.97
R7003:Shc3 UTSW 13 51,620,588 (GRCm39) missense probably benign 0.14
R7104:Shc3 UTSW 13 51,585,241 (GRCm39) missense possibly damaging 0.89
R7476:Shc3 UTSW 13 51,602,042 (GRCm39) missense probably benign
R8312:Shc3 UTSW 13 51,596,754 (GRCm39) missense probably damaging 1.00
R8774:Shc3 UTSW 13 51,615,475 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Shc3 UTSW 13 51,615,475 (GRCm39) missense probably damaging 1.00
R8850:Shc3 UTSW 13 51,634,248 (GRCm39) missense probably benign 0.04
Z1177:Shc3 UTSW 13 51,596,964 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGACAGTTGCCCCATTTCC -3'
(R):5'- GACCAGGGTCTGTACAGAGATC -3'

Sequencing Primer
(F):5'- CCATTTCCATAGGCTGAGAGC -3'
(R):5'- GACCTCAGGTCCAGGAAAC -3'
Posted On 2019-10-07