Incidental Mutation 'R5613:Srfbp1'
ID 438113
Institutional Source Beutler Lab
Gene Symbol Srfbp1
Ensembl Gene ENSMUSG00000024528
Gene Name serum response factor binding protein 1
Synonyms 2810036K01Rik
MMRRC Submission 043274-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R5613 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 52598765-52625003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52616717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 81 (D81N)
Ref Sequence ENSEMBL: ENSMUSP00000025406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025406]
AlphaFold Q9CZ91
Predicted Effect probably damaging
Transcript: ENSMUST00000025406
AA Change: D81N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025406
Gene: ENSMUSG00000024528
AA Change: D81N

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 180 192 N/A INTRINSIC
low complexity region 261 271 N/A INTRINSIC
low complexity region 285 296 N/A INTRINSIC
Pfam:BUD22 338 440 1.1e-14 PFAM
Meta Mutation Damage Score 0.3858 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 97.0%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,465,346 (GRCm39) probably benign Het
Adamts16 A C 13: 70,878,253 (GRCm39) S1171A probably benign Het
Agtr1b T C 3: 20,370,424 (GRCm39) T61A probably damaging Het
Ankrd35 A G 3: 96,590,334 (GRCm39) D257G possibly damaging Het
Arhgef5 A G 6: 43,250,997 (GRCm39) T583A probably benign Het
Camk2g T C 14: 20,787,559 (GRCm39) N423S probably damaging Het
Cand1 A T 10: 119,051,228 (GRCm39) H293Q possibly damaging Het
Chd4 A C 6: 125,097,509 (GRCm39) E1359D probably damaging Het
Creb3 T C 4: 43,566,196 (GRCm39) C264R probably benign Het
Cul9 T C 17: 46,814,770 (GRCm39) D2171G probably damaging Het
Cyp7a1 A T 4: 6,272,799 (GRCm39) L138Q probably damaging Het
Dclk1 A G 3: 55,424,360 (GRCm39) T380A probably benign Het
Dnm2 T A 9: 21,383,963 (GRCm39) I248N probably damaging Het
Dtx4 A T 19: 12,462,767 (GRCm39) S337R probably damaging Het
Dus3l T C 17: 57,074,882 (GRCm39) S335P possibly damaging Het
Dync1h1 T C 12: 110,599,254 (GRCm39) Y1870H possibly damaging Het
Eral1 G A 11: 77,965,230 (GRCm39) probably benign Het
Eya1 G T 1: 14,373,153 (GRCm39) probably benign Het
Fbxw28 T A 9: 109,167,601 (GRCm39) Y52F probably benign Het
Fcgbpl1 A T 7: 27,842,303 (GRCm39) probably benign Het
Gm5600 A G 7: 113,307,293 (GRCm39) noncoding transcript Het
Gm5901 A G 7: 105,026,532 (GRCm39) Y100C probably damaging Het
Haus3 A G 5: 34,325,173 (GRCm39) L162P probably damaging Het
Hivep2 T C 10: 14,015,239 (GRCm39) I1802T probably damaging Het
Klf7 G A 1: 64,081,555 (GRCm39) R258C probably damaging Het
Mapt A G 11: 104,193,216 (GRCm39) N66D possibly damaging Het
Mypop G A 7: 18,725,901 (GRCm39) probably benign Het
Nefm T A 14: 68,358,583 (GRCm39) K484* probably null Het
Nup153 A C 13: 46,840,747 (GRCm39) S954A possibly damaging Het
Or13c7 G A 4: 43,854,528 (GRCm39) C73Y probably damaging Het
Or4a78 T C 2: 89,497,388 (GRCm39) N281D probably damaging Het
Pkn1 C T 8: 84,404,390 (GRCm39) A543T probably benign Het
Ppp1r11 C A 17: 37,262,380 (GRCm39) G7W probably damaging Het
Prss52 A T 14: 64,346,951 (GRCm39) N42Y possibly damaging Het
Ptger2 T G 14: 45,226,960 (GRCm39) V180G possibly damaging Het
Rep15 G T 6: 146,934,352 (GRCm39) V64F possibly damaging Het
Rfpl4b T A 10: 38,697,373 (GRCm39) Q76L probably benign Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc16a12 T C 19: 34,652,358 (GRCm39) M263V probably benign Het
Spdye4c A T 2: 128,434,889 (GRCm39) Q95L possibly damaging Het
Sspo G A 6: 48,431,978 (GRCm39) V731M possibly damaging Het
Susd6 G T 12: 80,915,308 (GRCm39) G98C probably damaging Het
Tlr4 T A 4: 66,759,122 (GRCm39) S638R possibly damaging Het
Tnfsf13 G T 11: 69,574,821 (GRCm39) probably null Het
Tnfsf18 A G 1: 161,331,297 (GRCm39) N149S possibly damaging Het
Tor1aip1 T C 1: 155,909,499 (GRCm39) K176E probably damaging Het
Trav10 A T 14: 53,743,483 (GRCm39) H28L probably benign Het
Trim30a T A 7: 104,079,389 (GRCm39) K155N probably damaging Het
Trpm1 A G 7: 63,858,159 (GRCm39) D333G probably damaging Het
Tssk1 T C 16: 17,712,364 (GRCm39) S50P probably benign Het
Ttll9 CAAA CAA 2: 152,815,521 (GRCm39) probably null Het
Ttn A T 2: 76,739,996 (GRCm39) probably benign Het
Vmn2r115 A T 17: 23,564,307 (GRCm39) I160L probably benign Het
Wdr95 A T 5: 149,507,935 (GRCm39) D396V probably damaging Het
Zbtb47 T A 9: 121,596,585 (GRCm39) I647N probably damaging Het
Zfp799 T C 17: 33,038,964 (GRCm39) Y433C probably damaging Het
Other mutations in Srfbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02686:Srfbp1 APN 18 52,608,726 (GRCm39) missense probably damaging 1.00
R0308:Srfbp1 UTSW 18 52,621,614 (GRCm39) missense probably benign 0.01
R0765:Srfbp1 UTSW 18 52,623,507 (GRCm39) splice site probably benign
R0811:Srfbp1 UTSW 18 52,620,588 (GRCm39) missense probably damaging 0.98
R0812:Srfbp1 UTSW 18 52,620,588 (GRCm39) missense probably damaging 0.98
R1625:Srfbp1 UTSW 18 52,621,788 (GRCm39) missense probably benign 0.06
R1659:Srfbp1 UTSW 18 52,621,967 (GRCm39) missense possibly damaging 0.68
R4438:Srfbp1 UTSW 18 52,621,403 (GRCm39) missense probably benign 0.03
R4761:Srfbp1 UTSW 18 52,621,638 (GRCm39) missense probably damaging 1.00
R4843:Srfbp1 UTSW 18 52,621,749 (GRCm39) missense probably benign 0.41
R5417:Srfbp1 UTSW 18 52,621,697 (GRCm39) missense probably benign
R5708:Srfbp1 UTSW 18 52,622,018 (GRCm39) missense probably damaging 1.00
R5900:Srfbp1 UTSW 18 52,621,853 (GRCm39) missense probably benign 0.31
R6349:Srfbp1 UTSW 18 52,622,034 (GRCm39) missense probably benign 0.38
R6711:Srfbp1 UTSW 18 52,621,373 (GRCm39) missense probably damaging 1.00
R7660:Srfbp1 UTSW 18 52,608,671 (GRCm39) missense probably damaging 1.00
R7707:Srfbp1 UTSW 18 52,616,726 (GRCm39) missense probably damaging 1.00
R8140:Srfbp1 UTSW 18 52,621,762 (GRCm39) missense probably damaging 1.00
R8548:Srfbp1 UTSW 18 52,621,463 (GRCm39) missense probably benign 0.00
R8912:Srfbp1 UTSW 18 52,623,686 (GRCm39) missense possibly damaging 0.94
R8930:Srfbp1 UTSW 18 52,623,117 (GRCm39) missense possibly damaging 0.75
R8932:Srfbp1 UTSW 18 52,623,117 (GRCm39) missense possibly damaging 0.75
R8992:Srfbp1 UTSW 18 52,609,392 (GRCm39) nonsense probably null
R9116:Srfbp1 UTSW 18 52,623,102 (GRCm39) missense possibly damaging 0.85
R9365:Srfbp1 UTSW 18 52,623,540 (GRCm39) missense possibly damaging 0.62
R9479:Srfbp1 UTSW 18 52,621,332 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- GAACCTGATGCTGTGAGCTG -3'
(R):5'- GCCACTGGACAATAATGACAGG -3'

Sequencing Primer
(F):5'- GGCAGTGGACATTTAAAGACATTCC -3'
(R):5'- ACTTGCCATTACTTTATGTATTCAGC -3'
Posted On 2016-10-26