Incidental Mutation 'IGL02726:Shf'
ID 305231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shf
Ensembl Gene ENSMUSG00000033256
Gene Name Src homology 2 domain containing F
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02726
Quality Score
Status
Chromosome 2
Chromosomal Location 122179373-122199643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122189969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 96 (D96E)
Ref Sequence ENSEMBL: ENSMUSP00000106161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048635] [ENSMUST00000110530] [ENSMUST00000110531] [ENSMUST00000110532] [ENSMUST00000121237] [ENSMUST00000125826] [ENSMUST00000139819]
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: ENSMUST00000110530
SMART Domains Protein: ENSMUSP00000106159
Gene: ENSMUSG00000033256

DomainStartEndE-ValueType
low complexity region 42 61 N/A INTRINSIC
SH2 130 214 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: D96E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106161
Gene: ENSMUSG00000033256
AA Change: D96E

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: ENSMUST00000121237
SMART Domains Protein: ENSMUSP00000113923
Gene: ENSMUSG00000033256

DomainStartEndE-ValueType
low complexity region 42 61 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125826
AA Change: D206E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117099
Gene: ENSMUSG00000033256
AA Change: D206E

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 damaging
Transcript: ENSMUST00000139819
AA Change: D33E

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119980
Gene: ENSMUSG00000033256
AA Change: D33E

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
low complexity region 83 102 N/A INTRINSIC
low complexity region 149 163 N/A INTRINSIC
SH2 218 302 9.16e-27 SMART
Predicted Effect unknown
Transcript: ENSMUST00000151130
AA Change: D197E
SMART Domains Protein: ENSMUSP00000114524
Gene: ENSMUSG00000033256
AA Change: D197E

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
Predicted Effect probably benign
Transcript: ENSMUST00000143484
SMART Domains Protein: ENSMUSP00000120732
Gene: ENSMUSG00000033256

DomainStartEndE-ValueType
low complexity region 14 33 N/A INTRINSIC
SH2 71 155 3.19e-26 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A T 2: 128,501,705 (GRCm39) M779K probably benign Het
Art1 G A 7: 101,759,955 (GRCm39) V85M probably damaging Het
Atad2b G T 12: 5,024,003 (GRCm39) E43* probably null Het
Clec4a4 A T 6: 122,967,338 (GRCm39) I5F probably damaging Het
Cr1l A T 1: 194,812,188 (GRCm39) I45N probably damaging Het
Dmbt1 T A 7: 130,676,140 (GRCm39) probably benign Het
Dnajb3 A T 1: 88,133,372 (GRCm39) V10E probably damaging Het
Dnajc22 A T 15: 98,998,881 (GRCm39) H22L probably damaging Het
Dnal4 A G 15: 79,647,745 (GRCm39) V40A probably damaging Het
Dsg1b G A 18: 20,532,542 (GRCm39) V529I probably benign Het
Elp1 T A 4: 56,767,878 (GRCm39) probably null Het
Fam131c T A 4: 141,110,113 (GRCm39) D170E probably benign Het
Got1 G A 19: 43,488,851 (GRCm39) probably null Het
Herc1 T A 9: 66,349,270 (GRCm39) V2043E probably benign Het
Hmcn1 A T 1: 150,532,445 (GRCm39) Y3147* probably null Het
Ifi44 T C 3: 151,455,233 (GRCm39) probably benign Het
Il1b A T 2: 129,209,242 (GRCm39) D129E probably damaging Het
Ino80 A T 2: 119,272,964 (GRCm39) I504N probably damaging Het
Itpr2 A G 6: 146,277,419 (GRCm39) I655T probably benign Het
Kcnk4 A G 19: 6,904,457 (GRCm39) probably null Het
Mrgprb2 T A 7: 48,202,618 (GRCm39) R36W probably damaging Het
Mslnl T C 17: 25,963,077 (GRCm39) probably null Het
Or10ak14 T A 4: 118,610,961 (GRCm39) Y260F probably benign Het
Or1e33 T C 11: 73,738,691 (GRCm39) S87G probably benign Het
Or2ag1b A C 7: 106,288,577 (GRCm39) Y120* probably null Het
Or8k16 G T 2: 85,520,554 (GRCm39) L260F possibly damaging Het
Pcnx4 G T 12: 72,620,986 (GRCm39) M935I probably benign Het
Pdgfra C T 5: 75,355,618 (GRCm39) Q1043* probably null Het
Pf4 T C 5: 90,920,523 (GRCm39) V28A probably benign Het
Piezo1 A G 8: 123,213,894 (GRCm39) L1689P probably damaging Het
Ppa2 A G 3: 133,076,222 (GRCm39) S284G possibly damaging Het
Pramel22 G T 4: 143,381,955 (GRCm39) P247H probably damaging Het
Psd2 T C 18: 36,120,355 (GRCm39) probably null Het
Rbm25 G T 12: 83,719,626 (GRCm39) G549W probably damaging Het
Ryr2 T C 13: 11,753,206 (GRCm39) D1705G probably damaging Het
Slc1a1 G A 19: 28,889,169 (GRCm39) V481M probably benign Het
Slc4a9 T C 18: 36,672,670 (GRCm39) V807A probably benign Het
Syne2 T A 12: 76,062,356 (GRCm39) I4226N probably damaging Het
Tex56 A G 13: 35,136,943 (GRCm39) probably benign Het
Tkfc A T 19: 10,573,576 (GRCm39) V254E possibly damaging Het
Ubr2 A C 17: 47,283,847 (GRCm39) Y601D probably damaging Het
Ubr5 A C 15: 38,000,806 (GRCm39) probably benign Het
Vmn1r27 A T 6: 58,192,854 (GRCm39) I50K possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Shf
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16