Incidental Mutation 'R3732:Shf'
ID 271021
Institutional Source Beutler Lab
Gene Symbol Shf
Ensembl Gene ENSMUSG00000033256
Gene Name Src homology 2 domain containing F
Synonyms
MMRRC Submission 040720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3732 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 122179373-122199643 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 122175688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000048635] [ENSMUST00000099461] [ENSMUST00000110530] [ENSMUST00000110531] [ENSMUST00000110532] [ENSMUST00000121237] [ENSMUST00000139819] [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: ENSMUST00000099461
SMART Domains Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:An_peroxidase 29 557 2.1e-134 PFAM
transmembrane domain 594 616 N/A INTRINSIC
EFh 819 847 1.82e-4 SMART
EFh 855 883 3.45e-5 SMART
transmembrane domain 1044 1066 N/A INTRINSIC
Pfam:Ferric_reduct 1087 1236 5.3e-21 PFAM
Pfam:FAD_binding_8 1272 1374 8.5e-21 PFAM
Pfam:NAD_binding_6 1380 1534 3.5e-33 PFAM
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 benign
Transcript: ENSMUST00000110532
SMART Domains Protein: ENSMUSP00000106161
Gene: ENSMUSG00000033256

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 noncoding transcript
Transcript: ENSMUST00000135848
Predicted Effect probably benign
Transcript: ENSMUST00000151130
SMART Domains Protein: ENSMUSP00000114524
Gene: ENSMUSG00000033256

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: ENSMUST00000139819
SMART Domains Protein: ENSMUSP00000119980
Gene: ENSMUSG00000033256

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000125826
SMART Domains Protein: ENSMUSP00000117099
Gene: ENSMUSG00000033256

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,037,892 (GRCm39) probably null Het
Adgrl3 C A 5: 81,942,793 (GRCm39) H1474Q probably benign Het
Adgrv1 T C 13: 81,705,075 (GRCm39) I1578M probably damaging Het
Arhgef10l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 4: 140,308,930 (GRCm39) probably benign Het
Bcl7b A G 5: 135,209,767 (GRCm39) T141A probably benign Het
Cfap97d1 C T 11: 101,879,278 (GRCm39) Q17* probably null Het
Chrna3 T C 9: 54,923,178 (GRCm39) K210R probably benign Het
Cpsf2 T C 12: 101,953,567 (GRCm39) I199T probably damaging Het
Cyp2a4 A G 7: 26,012,252 (GRCm39) D345G probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
D1Pas1 C A 1: 186,700,294 (GRCm39) S74R probably benign Het
Edem1 T C 6: 108,818,582 (GRCm39) F197L probably damaging Het
Ergic2 T C 6: 148,104,020 (GRCm39) D79G probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 T C 8: 45,406,306 (GRCm39) V1019A possibly damaging Het
Fbxl21 T A 13: 56,674,830 (GRCm39) H60Q probably benign Het
Fbxw7 A C 3: 84,833,014 (GRCm39) K19Q possibly damaging Het
Gldn A G 9: 54,245,946 (GRCm39) K499R possibly damaging Het
Gria4 C T 9: 4,513,295 (GRCm39) M271I probably benign Het
Herc1 C T 9: 66,352,922 (GRCm39) T2136I probably damaging Het
Iqcg G T 16: 32,873,996 (GRCm39) probably benign Het
Itih2 A T 2: 10,110,481 (GRCm39) F537I probably benign Het
Itpr2 T C 6: 146,284,198 (GRCm39) D533G probably damaging Het
Kcnk15 A G 2: 163,695,733 (GRCm39) K22E probably benign Het
Lag3 A T 6: 124,887,103 (GRCm39) S155T probably benign Het
Lars1 T C 18: 42,345,667 (GRCm39) E1003G probably benign Het
Layn T A 9: 50,970,844 (GRCm39) N233I probably damaging Het
Lgi1 T C 19: 38,294,694 (GRCm39) Y465H probably damaging Het
Lrig1 C T 6: 94,588,557 (GRCm39) A531T possibly damaging Het
Mtx2 C A 2: 74,677,606 (GRCm39) A22E probably damaging Het
Nipal3 T C 4: 135,191,157 (GRCm39) T325A probably damaging Het
Ola1 G C 2: 72,987,204 (GRCm39) R143G probably damaging Het
Otog A G 7: 45,937,792 (GRCm39) T1834A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh18 T C 3: 49,709,240 (GRCm39) S692G probably benign Het
Pkd2 G A 5: 104,637,285 (GRCm39) probably null Het
Ppp1r9a T C 6: 4,906,259 (GRCm39) probably benign Het
Robo2 A C 16: 73,717,635 (GRCm39) L1159W possibly damaging Het
Sfxn5 T C 6: 85,276,258 (GRCm39) probably benign Het
Siah2 A G 3: 58,583,671 (GRCm39) V205A probably damaging Het
Slc44a4 G A 17: 35,140,537 (GRCm39) silent Het
Spindoc A C 19: 7,351,666 (GRCm39) L202R probably damaging Het
Spock3 T A 8: 63,798,733 (GRCm39) D251E probably damaging Het
Stk4 T A 2: 163,930,828 (GRCm39) M143K probably benign Het
Trpc3 A T 3: 36,692,708 (GRCm39) D761E probably benign Het
Twf1 A C 15: 94,482,295 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vps50 T C 6: 3,519,243 (GRCm39) silent Het
Wapl G A 14: 34,458,721 (GRCm39) V928I probably damaging Het
Zfand3 A G 17: 30,411,630 (GRCm39) K130R probably benign 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
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
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 PCR Primer
(F):5'- CTTCAGAATGATGACCAAGCTG -3'
(R):5'- GAGCTCTTGGAAACTGGGTG -3'

Sequencing Primer
(F):5'- ACTGCACTCCCTACAGCTG -3'
(R):5'- AAACTGGGTGGGGGCCTTAC -3'
Posted On 2015-03-18