Incidental Mutation 'R1615:Shf'
ID 177031
Institutional Source Beutler Lab
Gene Symbol Shf
Ensembl Gene ENSMUSG00000033256
Gene Name Src homology 2 domain containing F
Synonyms
MMRRC Submission 039652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1615 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 122179373-122199643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122179913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 421 (H421R)
Ref Sequence ENSEMBL: ENSMUSP00000117099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048635] [ENSMUST00000099461] [ENSMUST00000110530] [ENSMUST00000110531] [ENSMUST00000110532] [ENSMUST00000121237] [ENSMUST00000125826] [ENSMUST00000139819]
AlphaFold Q8CG80
Predicted Effect probably damaging
Transcript: ENSMUST00000048635
AA Change: H213R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045135
Gene: ENSMUSG00000033256
AA Change: H213R

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 possibly damaging
Transcript: ENSMUST00000110530
AA Change: H207R

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106159
Gene: ENSMUSG00000033256
AA Change: H207R

DomainStartEndE-ValueType
low complexity region 42 61 N/A INTRINSIC
SH2 130 214 9.16e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110531
AA Change: H213R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106160
Gene: ENSMUSG00000033256
AA Change: H213R

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: H271R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106161
Gene: ENSMUSG00000033256
AA Change: H271R

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: H421R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117099
Gene: ENSMUSG00000033256
AA Change: H421R

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 possibly damaging
Transcript: ENSMUST00000139819
AA Change: H295R

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119980
Gene: ENSMUSG00000033256
AA Change: H295R

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 damaging
Transcript: ENSMUST00000143484
AA Change: H147R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120732
Gene: ENSMUSG00000033256
AA Change: H147R

DomainStartEndE-ValueType
low complexity region 14 33 N/A INTRINSIC
SH2 71 155 3.19e-26 SMART
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
Meta Mutation Damage Score 0.6612 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,743,625 (GRCm39) C328S probably benign Het
Adgrv1 G T 13: 81,572,407 (GRCm39) T4918K probably benign Het
Aen T C 7: 78,555,660 (GRCm39) Y108H probably damaging Het
Amer3 T C 1: 34,627,252 (GRCm39) M497T probably damaging Het
Arid2 C T 15: 96,269,535 (GRCm39) T1216M possibly damaging Het
Birc6 A G 17: 74,916,404 (GRCm39) probably null Het
Bzw2 A G 12: 36,169,126 (GRCm39) probably benign Het
Ccr1 T C 9: 123,763,573 (GRCm39) H319R probably benign Het
Dnah11 A G 12: 118,014,457 (GRCm39) I2010T probably damaging Het
Dnhd1 A G 7: 105,352,413 (GRCm39) Y2522C probably benign Het
Dnhd1 T A 7: 105,362,913 (GRCm39) I3825K possibly damaging Het
Dst A T 1: 34,238,452 (GRCm39) D3718V probably damaging Het
Esp36 A G 17: 38,730,330 (GRCm39) probably benign Het
Fbxw21 T C 9: 108,972,794 (GRCm39) Y380C probably damaging Het
Fhad1 G A 4: 141,649,634 (GRCm39) T836M probably damaging Het
Fhod1 C T 8: 106,074,463 (GRCm39) probably benign Het
Flt1 A G 5: 147,576,098 (GRCm39) C637R probably damaging Het
Fmnl2 A G 2: 53,008,436 (GRCm39) K809E probably damaging Het
Grm1 G T 10: 10,617,252 (GRCm39) Y510* probably null Het
Hey1 A T 3: 8,729,898 (GRCm39) H186Q possibly damaging Het
Insyn1 C T 9: 58,406,351 (GRCm39) A87V probably damaging Het
Itga2b C T 11: 102,350,963 (GRCm39) probably null Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Lmcd1 A G 6: 112,250,911 (GRCm39) D7G probably benign Het
Lrrc1 T C 9: 77,342,400 (GRCm39) D358G possibly damaging Het
Lyn A G 4: 3,748,765 (GRCm39) K248E probably benign Het
Map4k4 A G 1: 40,045,990 (GRCm39) probably benign Het
Map4k5 A T 12: 69,891,187 (GRCm39) L160H probably damaging Het
Mtcl2 T G 2: 156,862,663 (GRCm39) H1422P probably damaging Het
Myo6 C T 9: 80,215,007 (GRCm39) R1247C probably damaging Het
Myo9a A G 9: 59,695,739 (GRCm39) E347G possibly damaging Het
Ndfip1 C T 18: 38,593,672 (GRCm39) P213S probably benign Het
Neurl3 T C 1: 36,308,470 (GRCm39) E114G possibly damaging Het
Nlrp14 A T 7: 106,795,370 (GRCm39) I877F probably benign Het
Obscn A G 11: 58,990,651 (GRCm39) S1733P probably benign Het
Oxgr1 A T 14: 120,260,185 (GRCm39) S7R probably benign Het
Plcb1 A T 2: 135,204,364 (GRCm39) probably benign Het
Prkag2 G T 5: 25,080,176 (GRCm39) N120K possibly damaging Het
Rnf43 C T 11: 87,622,485 (GRCm39) R529* probably null Het
Saraf A G 8: 34,632,442 (GRCm39) K174E possibly damaging Het
Scrib T C 15: 75,938,054 (GRCm39) Q264R probably benign Het
Sh3rf3 T A 10: 58,966,899 (GRCm39) M747K probably benign Het
Slc35g3 A G 11: 69,651,368 (GRCm39) S228P probably damaging Het
Slit1 A G 19: 41,639,110 (GRCm39) probably benign Het
Srrm4 A G 5: 116,585,359 (GRCm39) probably benign Het
Stfa1 T G 16: 36,100,829 (GRCm39) V23G probably damaging Het
Swap70 A G 7: 109,872,498 (GRCm39) D371G probably benign Het
Tada2a T C 11: 83,993,926 (GRCm39) D186G probably damaging Het
Tdpoz3 C A 3: 93,733,618 (GRCm39) Q98K probably benign Het
Tgfbrap1 A G 1: 43,091,145 (GRCm39) V660A probably benign Het
Tnn A G 1: 159,945,978 (GRCm39) Y947H possibly damaging Het
Trim60 A T 8: 65,453,162 (GRCm39) C362* probably null Het
Vmn1r81 T A 7: 11,994,441 (GRCm39) N56Y probably damaging Het
Vsig8 A G 1: 172,387,280 (GRCm39) D52G probably damaging Het
Wdfy4 G A 14: 32,764,469 (GRCm39) R2140C probably 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
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
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 PCR Primer
(F):5'- GAATCTTCAGCGCCTGCTAGATCC -3'
(R):5'- GGAATCACACTTGCTGGGAGAGTC -3'

Sequencing Primer
(F):5'- CTAGGACAAGGGGAAGCCAG -3'
(R):5'- CTGGGAGAGTCGGGGTAG -3'
Posted On 2014-04-24