Incidental Mutation 'R9479:Srfbp1'
ID 716150
Institutional Source Beutler Lab
Gene Symbol Srfbp1
Ensembl Gene ENSMUSG00000024528
Gene Name serum response factor binding protein 1
Synonyms 2810036K01Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R9479 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 52598765-52625003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52621332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 131 (Q131R)
Ref Sequence ENSEMBL: ENSMUSP00000025406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025406]
AlphaFold Q9CZ91
Predicted Effect possibly damaging
Transcript: ENSMUST00000025406
AA Change: Q131R

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025406
Gene: ENSMUSG00000024528
AA Change: Q131R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 A G 1: 58,177,568 (GRCm39) Y261C probably benign Het
Arhgef10 T C 8: 15,047,632 (GRCm39) V1165A probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Bhmt2 G A 13: 93,799,833 (GRCm39) A201V probably damaging Het
Ccdc115 A T 1: 34,476,895 (GRCm39) S115T possibly damaging Het
Clca4b A G 3: 144,617,100 (GRCm39) V850A probably benign Het
Commd8 A T 5: 72,318,350 (GRCm39) H144Q probably benign Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Csnka2ip T C 16: 64,298,262 (GRCm39) K701E unknown Het
Cyb5d2 A G 11: 72,669,702 (GRCm39) C219R Het
Ep400 T C 5: 110,877,730 (GRCm39) T835A unknown Het
Fam169a A G 13: 97,246,543 (GRCm39) Y228C possibly damaging Het
Fam169a A G 13: 97,250,695 (GRCm39) D342G possibly damaging Het
Fbxw21 A T 9: 108,968,612 (GRCm39) C455S probably benign Het
Fbxw26 A G 9: 109,561,625 (GRCm39) S190P probably damaging Het
Gabra5 A G 7: 57,058,440 (GRCm39) I436T Het
Gm9767 G A 10: 25,954,916 (GRCm39) G156D Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Gsn T C 2: 35,186,227 (GRCm39) probably null Het
Hao1 A G 2: 134,396,204 (GRCm39) S17P probably benign Het
Hspa1l A G 17: 35,196,735 (GRCm39) N258S probably benign Het
Isyna1 C T 8: 71,048,193 (GRCm39) R200C probably damaging Het
Itgb2 A T 10: 77,396,942 (GRCm39) K659M probably benign Het
Klf11 T C 12: 24,705,029 (GRCm39) M161T probably benign Het
Ktn1 A T 14: 47,962,174 (GRCm39) K1114N probably damaging Het
Lonrf1 G A 8: 36,697,668 (GRCm39) R439* probably null Het
Lrrc26 C T 2: 25,180,571 (GRCm39) P191S probably benign Het
Ogdh T C 11: 6,297,854 (GRCm39) I576T possibly damaging Het
Or10al4 T C 17: 38,036,986 (GRCm39) S24P probably damaging Het
Or14c45 T C 7: 86,176,285 (GRCm39) C107R possibly damaging Het
Or14j4 A G 17: 37,920,718 (GRCm39) F308S probably damaging Het
Or4k40 A T 2: 111,251,013 (GRCm39) F94L probably damaging Het
Or4p20 T C 2: 88,253,677 (GRCm39) R231G probably damaging Het
Or7g20 G A 9: 18,946,730 (GRCm39) V104I probably benign Het
Pcnt A G 10: 76,217,963 (GRCm39) V2104A probably benign Het
Pds5a G A 5: 65,792,747 (GRCm39) R729W probably damaging Het
Pgap1 G A 1: 54,582,275 (GRCm39) Q191* probably null Het
Pglyrp3 A G 3: 91,935,310 (GRCm39) I187V probably benign Het
Pkdrej T A 15: 85,699,571 (GRCm39) I2122F possibly damaging Het
Pold1 G A 7: 44,191,079 (GRCm39) R251W probably damaging Het
Prr22 A G 17: 57,078,335 (GRCm39) M163V probably benign Het
Ptprc A T 1: 138,001,388 (GRCm39) N814K probably benign Het
Rapgef2 G A 3: 79,019,495 (GRCm39) L59F probably damaging Het
Rbm22 T C 18: 60,699,492 (GRCm39) L147P probably damaging Het
Rgsl1 G A 1: 153,657,445 (GRCm39) S391F unknown Het
Rnf13 A T 3: 57,727,983 (GRCm39) D221V possibly damaging Het
Senp2 T A 16: 21,842,398 (GRCm39) L154Q probably damaging Het
Tmprss11a A T 5: 86,562,402 (GRCm39) Y314* probably null Het
Ttn G T 2: 76,666,286 (GRCm39) P11590Q unknown Het
Txnrd3 C T 6: 89,640,084 (GRCm39) T266M possibly damaging Het
Zfp810 T C 9: 22,194,497 (GRCm39) S64G possibly 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
R5613:Srfbp1 UTSW 18 52,616,717 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TAACACAGAAGGTAGTGTTGCC -3'
(R):5'- TTGAACCACTTGCTGCATTC -3'

Sequencing Primer
(F):5'- GCAATCTCCATATCTTATAAGCATGG -3'
(R):5'- CATTCTTTGCTGCCGTGTTG -3'
Posted On 2022-07-18