Incidental Mutation 'R1180:Shf'
ID 226162
Institutional Source Beutler Lab
Gene Symbol Shf
Ensembl Gene ENSMUSG00000033256
Gene Name Src homology 2 domain containing F
Synonyms
MMRRC Submission 039252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1180 (G1)
Quality Score 42
Status 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: 98.8%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 87.5%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,141 (GRCm39) D281E probably benign Het
Adam24 T G 8: 41,134,467 (GRCm39) V645G probably damaging Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Cadps A G 14: 12,457,836 (GRCm38) probably benign Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Chd8 A C 14: 52,458,565 (GRCm39) S848A probably damaging Het
Col6a3 T C 1: 90,709,577 (GRCm39) K1873R unknown Het
Cpd T C 11: 76,692,579 (GRCm39) T753A possibly damaging Het
Cxcr2 A T 1: 74,197,527 (GRCm39) D7V probably benign Het
Dock4 A G 12: 40,690,413 (GRCm39) E173G possibly damaging Het
EU599041 G A 7: 42,875,731 (GRCm39) noncoding transcript Het
Fer1l6 G A 15: 58,474,160 (GRCm39) probably benign Het
Flt3 T C 5: 147,278,048 (GRCm39) D842G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Fsip2 T C 2: 82,805,570 (GRCm39) Y630H probably damaging Het
Gprin3 C A 6: 59,331,921 (GRCm39) V129F possibly damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hoxa3 A C 6: 52,147,382 (GRCm39) Y290* probably null Het
Htra4 G T 8: 25,523,735 (GRCm39) L277I probably damaging Het
Jak2 A G 19: 29,259,899 (GRCm39) Y266C probably damaging Het
Kif6 T A 17: 50,139,284 (GRCm39) probably benign Het
Kiz C T 2: 146,811,927 (GRCm39) R679C unknown Het
Kyat3 A C 3: 142,443,531 (GRCm39) probably null Het
Mipep G A 14: 61,071,505 (GRCm39) V537I probably damaging Het
Mrpl44 T A 1: 79,755,677 (GRCm39) N94K probably damaging Het
Mstn A T 1: 53,103,167 (GRCm39) T168S possibly damaging Het
Mx2 G A 16: 97,357,209 (GRCm39) R434H probably damaging Het
Myh6 A G 14: 55,181,925 (GRCm39) I1792T possibly damaging Het
Myo16 T C 8: 10,446,908 (GRCm39) S450P probably damaging Het
Nherf4 T A 9: 44,160,543 (GRCm39) D284V probably benign Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkhd1 C T 1: 20,655,381 (GRCm39) probably null Het
Psmd8 A T 7: 28,874,825 (GRCm39) V248E probably benign Het
Ranbp2 A G 10: 58,301,285 (GRCm39) Y646C probably damaging Het
Samsn1 C T 16: 75,670,536 (GRCm39) G189E probably damaging Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Sfmbt2 C T 2: 10,406,877 (GRCm39) H59Y probably damaging Het
Shb T C 4: 45,423,996 (GRCm39) I486V possibly damaging Het
Spag16 G A 1: 69,962,817 (GRCm39) probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tk1 A G 11: 117,712,921 (GRCm39) probably null Het
Tnni3k A T 3: 154,581,150 (GRCm39) H600Q probably damaging Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ube2q2 T C 9: 55,102,700 (GRCm39) probably benign Het
Utp14b C A 1: 78,643,162 (GRCm39) N353K probably damaging Het
Zfp474 C T 18: 52,771,814 (GRCm39) Q156* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CCCTAACAGGAAACAGGGCAGAGTT -3'
(R):5'- CAGCGGTGGAGTCGCAAAGT -3'

Sequencing Primer
(F):5'- GGTTAAAATTTGAGCCCCCG -3'
(R):5'- GAGCACCTGGGCTTTCG -3'
Posted On 2014-09-17