Incidental Mutation 'R5754:Shc4'
ID444936
Institutional Source Beutler Lab
Gene Symbol Shc4
Ensembl Gene ENSMUSG00000035109
Gene NameSHC (Src homology 2 domain containing) family, member 4
Synonyms9930029B02Rik, LOC271849, 6230417E10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.213) question?
Stock #R5754 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location125627447-125724148 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 125670298 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 2 (Q2L)
Ref Sequence ENSEMBL: ENSMUSP00000106106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042246] [ENSMUST00000110477] [ENSMUST00000110480] [ENSMUST00000164756]
Predicted Effect probably damaging
Transcript: ENSMUST00000042246
AA Change: Q288L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043146
Gene: ENSMUSG00000035109
AA Change: Q288L

DomainStartEndE-ValueType
low complexity region 57 68 N/A INTRINSIC
PTB 187 351 1.38e-34 SMART
SH2 520 599 4.69e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110477
AA Change: Q2L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106103
Gene: ENSMUSG00000035109
AA Change: Q2L

DomainStartEndE-ValueType
Pfam:PID 1 62 1.7e-19 PFAM
SH2 234 313 4.69e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110480
AA Change: Q2L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106106
Gene: ENSMUSG00000035109
AA Change: Q2L

DomainStartEndE-ValueType
Pfam:PID 1 62 1.7e-19 PFAM
SH2 234 313 4.69e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164756
SMART Domains Protein: ENSMUSP00000129413
Gene: ENSMUSG00000091337

DomainStartEndE-ValueType
low complexity region 31 58 N/A INTRINSIC
low complexity region 66 85 N/A INTRINSIC
Meta Mutation Damage Score 0.246 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,269,541 S609P probably damaging Het
Abcb4 T A 5: 8,934,320 N683K probably benign Het
Atad2b T A 12: 5,010,351 H915Q probably benign Het
Camk1d G T 2: 5,445,097 P91Q probably benign Het
Camk1d G C 2: 5,445,099 S90R probably damaging Het
Card11 T C 5: 140,899,769 E345G probably damaging Het
Ccdc58 A G 16: 36,085,057 N63S probably benign Het
Ccpg1 G T 9: 73,013,244 V714L possibly damaging Het
Chst9 T C 18: 15,453,197 E103G possibly damaging Het
Cnga1 C T 5: 72,605,272 V300I probably benign Het
Crb1 T C 1: 139,231,599 Y1295C probably damaging Het
Dnah5 A G 15: 28,401,868 T3392A probably benign Het
Elp3 C A 14: 65,547,990 R473L probably damaging Het
Epgn T A 5: 91,033,948 I145N probably benign Het
Fam107b G A 2: 3,778,420 G220D probably damaging Het
Fbn2 A G 18: 58,124,311 V328A probably benign Het
Fn1 A T 1: 71,600,322 I1770N probably damaging Het
Fndc1 T A 17: 7,769,753 Y1159F unknown Het
Frem2 A G 3: 53,537,258 L2484P probably damaging Het
Grk2 C T 19: 4,290,468 R295H probably damaging Het
Gtf3c1 A T 7: 125,644,065 V1789D possibly damaging Het
Hmgcl T C 4: 135,950,587 V33A probably damaging Het
Ighv7-1 A G 12: 113,896,619 F51S probably damaging Het
Kcna6 A G 6: 126,739,725 L67P probably damaging Het
Lamc1 A T 1: 153,247,284 V720E probably benign Het
Lrch1 T C 14: 74,817,118 D312G probably damaging Het
Nav2 A G 7: 49,557,046 T1540A probably damaging Het
Nisch A T 14: 31,191,416 probably benign Het
Nos1ap T A 1: 170,349,399 K145M probably damaging Het
Npc1l1 A G 11: 6,227,839 Y524H probably damaging Het
Nrap T C 19: 56,389,484 T25A possibly damaging Het
Nusap1 A G 2: 119,647,099 K363R probably damaging Het
Olfr1019 T C 2: 85,841,312 T160A probably damaging Het
Olfr1489 A G 19: 13,633,993 E294G probably damaging Het
Olfr873 T A 9: 20,301,094 L298Q probably damaging Het
Pde4d T C 13: 109,938,013 I384T probably damaging Het
Pkhd1 T A 1: 20,523,651 R1413* probably null Het
Plcd3 T A 11: 103,073,766 Y593F possibly damaging Het
Plxna1 A T 6: 89,333,105 I1026N possibly damaging Het
Podxl T A 6: 31,524,394 I409F probably damaging Het
Polq A C 16: 37,017,263 Q179P probably benign Het
Pomt1 T C 2: 32,247,590 V401A probably damaging Het
Qdpr C T 5: 45,439,385 G146S probably damaging Het
Skint8 T A 4: 111,950,190 C358S probably benign Het
Smc5 T C 19: 23,244,103 E354G possibly damaging Het
Snx30 T C 4: 59,868,275 V129A probably damaging Het
Sp110 G C 1: 85,577,202 probably benign Het
Spag6 T A 2: 18,698,802 probably benign Het
Trim28 T A 7: 13,029,109 Y450N probably benign Het
Trip11 C T 12: 101,885,665 W428* probably null Het
Umodl1 T A 17: 30,994,787 V966E probably damaging Het
Utf1 A G 7: 139,944,791 probably benign Het
Vmn1r72 T C 7: 11,669,849 Y224C probably damaging Het
Whrn A G 4: 63,416,588 S748P probably damaging Het
Zbtb41 T A 1: 139,432,078 probably null Het
Zfhx3 T C 8: 108,800,332 F954L probably damaging Het
Zfp456 A T 13: 67,366,240 I449K probably benign Het
Other mutations in Shc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02298:Shc4 APN 2 125649154 missense probably damaging 0.96
IGL03003:Shc4 APN 2 125723333 nonsense probably null
R0167:Shc4 UTSW 2 125723013 missense probably benign 0.00
R0784:Shc4 UTSW 2 125657496 missense probably benign 0.08
R0959:Shc4 UTSW 2 125678687 critical splice donor site probably null
R1099:Shc4 UTSW 2 125722844 missense probably benign 0.03
R1864:Shc4 UTSW 2 125639367 missense probably damaging 1.00
R2198:Shc4 UTSW 2 125639346 missense possibly damaging 0.46
R3791:Shc4 UTSW 2 125723331 missense probably damaging 0.97
R4324:Shc4 UTSW 2 125678750 missense probably benign 0.23
R4424:Shc4 UTSW 2 125652522 missense probably benign
R4611:Shc4 UTSW 2 125655682 missense probably benign 0.29
R4745:Shc4 UTSW 2 125649277 missense probably damaging 0.96
R5037:Shc4 UTSW 2 125629727 missense probably damaging 1.00
R5433:Shc4 UTSW 2 125639430 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGCCCAAACCACTGTGGG -3'
(R):5'- AAGGCACCATGGGTCAGATG -3'

Sequencing Primer
(F):5'- AAACCACTGTGGGTGTTTTGTTTTG -3'
(R):5'- TGGTAGAGTAAATCCTTAGGATACAC -3'
Posted On2016-11-21