Incidental Mutation 'R1195:Shf'
ID 500179
Institutional Source Beutler Lab
Gene Symbol Shf
Ensembl Gene ENSMUSG00000033256
Gene Name Src homology 2 domain containing F
Synonyms
MMRRC Submission 039267-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1195 (G1)
Quality Score 124
Status Not validated
Chromosome 2
Chromosomal Location 122179373-122199643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122199163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 51 (P51S)
Ref Sequence ENSEMBL: ENSMUSP00000106161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048635] [ENSMUST00000110531] [ENSMUST00000110532] [ENSMUST00000125826]
AlphaFold Q8CG80
Predicted Effect probably benign
Transcript: ENSMUST00000048635
SMART Domains Protein: ENSMUSP00000045135
Gene: ENSMUSG00000033256

DomainStartEndE-ValueType
low complexity region 48 67 N/A INTRINSIC
SH2 136 220 9.16e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110531
SMART Domains Protein: ENSMUSP00000106160
Gene: ENSMUSG00000033256

DomainStartEndE-ValueType
low complexity region 48 67 N/A INTRINSIC
SH2 136 220 9.16e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110532
AA Change: P51S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106161
Gene: ENSMUSG00000033256
AA Change: P51S

DomainStartEndE-ValueType
low complexity region 19 38 N/A INTRINSIC
low complexity region 45 61 N/A INTRINSIC
low complexity region 77 87 N/A INTRINSIC
low complexity region 146 165 N/A INTRINSIC
Blast:SH2 225 278 2e-22 BLAST
SCOP:d1ayaa_ 237 291 1e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125826
AA Change: P161S

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117099
Gene: ENSMUSG00000033256
AA Change: P161S

DomainStartEndE-ValueType
low complexity region 14 56 N/A INTRINSIC
low complexity region 76 105 N/A INTRINSIC
low complexity region 129 148 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 187 197 N/A INTRINSIC
low complexity region 256 275 N/A INTRINSIC
SH2 344 428 9.16e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151130
AA Change: P152S

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114524
Gene: ENSMUSG00000033256
AA Change: P152S

DomainStartEndE-ValueType
low complexity region 6 48 N/A INTRINSIC
low complexity region 68 97 N/A INTRINSIC
low complexity region 121 140 N/A INTRINSIC
low complexity region 147 163 N/A INTRINSIC
low complexity region 179 189 N/A INTRINSIC
low complexity region 248 267 N/A INTRINSIC
Meta Mutation Damage Score 0.1519 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 81.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a C A 13: 30,565,901 (GRCm39) P322Q probably damaging Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Brd1 T C 15: 88,585,014 (GRCm39) E940G probably benign Het
Cd28 C T 1: 60,802,303 (GRCm39) T74I possibly damaging Het
Cntnap2 T A 6: 46,460,902 (GRCm39) M646K probably benign Het
Cyb5d1 C T 11: 69,285,797 (GRCm39) probably null Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dst A G 1: 34,250,235 (GRCm39) D4063G probably damaging Het
Elmod1 T C 9: 53,843,052 (GRCm39) Y42C probably damaging Het
Hdac5 T C 11: 102,096,332 (GRCm39) I310V probably damaging Het
Ighv10-1 A T 12: 114,443,015 (GRCm39) probably benign Het
Igsf3 A G 3: 101,365,419 (GRCm39) D1130G probably benign Het
Katnip A G 7: 125,465,654 (GRCm39) R1343G probably damaging Het
Kdm4d A G 9: 14,374,395 (GRCm39) S488P probably benign Het
Lingo2 A G 4: 35,708,538 (GRCm39) Y481H probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Map3k20 C T 2: 72,268,562 (GRCm39) P523L probably damaging Het
Msx1 A G 5: 37,978,625 (GRCm39) Y297H probably damaging Het
Myo9a A G 9: 59,802,483 (GRCm39) D1990G probably damaging Het
Niban2 T C 2: 32,809,815 (GRCm39) V304A probably benign Het
Perp C A 10: 18,731,483 (GRCm39) Y147* probably null Het
Prr16 A T 18: 51,435,755 (GRCm39) D78V probably damaging Het
Rfx7 C T 9: 72,525,228 (GRCm39) T806M probably damaging Het
Robo2 T C 16: 73,713,016 (GRCm39) probably null Het
Sema5b A T 16: 35,472,030 (GRCm39) E496V probably null Het
Spdl1 T C 11: 34,710,644 (GRCm39) Y368C probably damaging Het
Sptbn2 G C 19: 4,795,921 (GRCm39) R1700P possibly damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tln2 T G 9: 67,165,848 (GRCm39) K1000Q probably damaging Het
Tmbim7 A G 5: 3,711,943 (GRCm39) T63A probably benign Het
Tmed11 T C 5: 108,926,885 (GRCm39) D129G possibly damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttll6 T C 11: 96,026,555 (GRCm39) I113T probably damaging Het
Uso1 T A 5: 92,318,606 (GRCm39) F210L probably damaging Het
Uspl1 T A 5: 149,131,131 (GRCm39) V224E probably benign Het
Zfp639 G A 3: 32,573,345 (GRCm39) V86I possibly damaging Het
Other mutations in Shf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02726:Shf APN 2 122,189,969 (GRCm39) missense probably damaging 1.00
FR4589:Shf UTSW 2 122,184,658 (GRCm39) small insertion probably benign
R0624:Shf UTSW 2 122,199,116 (GRCm39) splice site probably benign
R0993:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1180:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1181:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1193:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1194:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1195:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1257:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1258:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1260:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1267:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1268:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1269:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1270:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1271:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1273:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1388:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1448:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1494:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1615:Shf UTSW 2 122,179,913 (GRCm39) missense probably damaging 1.00
R1697:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1756:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1820:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R1950:Shf UTSW 2 122,199,163 (GRCm39) missense probably damaging 0.96
R3732:Shf UTSW 2 122,175,688 (GRCm39) unclassified probably benign
R6794:Shf UTSW 2 122,184,321 (GRCm39) missense probably damaging 1.00
R7414:Shf UTSW 2 122,190,063 (GRCm39) missense possibly damaging 0.50
R8230:Shf UTSW 2 122,179,968 (GRCm39) missense probably damaging 1.00
R8970:Shf UTSW 2 122,187,654 (GRCm39) missense probably benign 0.01
R8997:Shf UTSW 2 122,187,728 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-12-01