Incidental Mutation 'R5649:Phf11c'
ID 441335
Institutional Source Beutler Lab
Gene Symbol Phf11c
Ensembl Gene ENSMUSG00000091144
Gene Name PHD finger protein 11C
Synonyms Gm6907
MMRRC Submission 043170-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5649 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 59618282-59630961 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 59622981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166912]
AlphaFold B4XVP9
Predicted Effect probably null
Transcript: ENSMUST00000166912
SMART Domains Protein: ENSMUSP00000131536
Gene: ENSMUSG00000091144

DomainStartEndE-ValueType
PHD 112 162 3.25e-4 SMART
low complexity region 178 186 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,330,501 (GRCm39) T1385A probably damaging Het
Apc2 T A 10: 80,149,972 (GRCm39) D1646E probably damaging Het
Aspm G A 1: 139,407,407 (GRCm39) R2098H probably benign Het
Atl3 C A 19: 7,509,592 (GRCm39) T435N possibly damaging Het
Cdh22 G T 2: 164,958,200 (GRCm39) T589K probably damaging Het
Cnot3 T C 7: 3,661,082 (GRCm39) L561S probably benign Het
Col5a1 A G 2: 27,841,468 (GRCm39) D363G unknown Het
Cyp24a1 T C 2: 170,338,229 (GRCm39) D105G possibly damaging Het
Dennd4a C A 9: 64,758,491 (GRCm39) probably null Het
Dnah8 A G 17: 31,019,561 (GRCm39) K3878R probably benign Het
Dock4 T C 12: 40,894,539 (GRCm39) S1900P probably benign Het
Fancg A G 4: 43,008,736 (GRCm39) L167P probably damaging Het
Ighd2-8 A G 12: 113,414,487 (GRCm39) S1P possibly damaging Het
Kif28 A G 1: 179,525,336 (GRCm39) probably null Het
Mrpl55 T A 11: 59,095,397 (GRCm39) C20* probably null Het
Myo5a A G 9: 75,079,001 (GRCm39) K920E possibly damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Olfm3 A G 3: 114,890,573 (GRCm39) R76G probably damaging Het
Or14a258 T C 7: 86,035,521 (GRCm39) M116V probably damaging Het
Or2ag1 T C 7: 106,313,373 (GRCm39) R172G possibly damaging Het
Pcdha12 A T 18: 37,155,468 (GRCm39) D729V probably benign Het
Phf20 T A 2: 156,093,688 (GRCm39) probably null Het
Plbd1 T A 6: 136,593,987 (GRCm39) Y376F probably benign Het
Poglut1 A G 16: 38,352,173 (GRCm39) V257A probably damaging Het
Reln A G 5: 22,106,623 (GRCm39) I3249T probably benign Het
Rgsl1 G A 1: 153,701,639 (GRCm39) P272S possibly damaging Het
Slc15a2 A T 16: 36,592,472 (GRCm39) Y197* probably null Het
Slc45a2 C T 15: 11,012,693 (GRCm39) T232I probably benign Het
Ssc5d T A 7: 4,929,517 (GRCm39) probably null Het
Thbs2 T C 17: 14,910,215 (GRCm39) Y128C probably damaging Het
Them4 A T 3: 94,238,851 (GRCm39) L219F possibly damaging Het
Tmem30b G T 12: 73,592,940 (GRCm39) N58K probably benign Het
Trappc2b T C 11: 51,576,799 (GRCm39) E33G probably benign Het
Ttc29 G A 8: 78,972,942 (GRCm39) E131K possibly damaging Het
Vmn1r29 C G 6: 58,284,676 (GRCm39) S132C probably benign Het
Vmn1r53 G A 6: 90,200,742 (GRCm39) A194V probably benign Het
Wdr86 A T 5: 24,923,085 (GRCm39) H202Q probably benign Het
Xirp2 A G 2: 67,347,239 (GRCm39) D3160G probably benign Het
Xkr5 T C 8: 18,983,982 (GRCm39) D520G probably benign Het
Zfp607b T G 7: 27,403,406 (GRCm39) C621G probably damaging Het
Other mutations in Phf11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Phf11c APN 14 59,626,797 (GRCm39) missense probably benign 0.07
IGL01080:Phf11c APN 14 59,630,648 (GRCm39) missense probably benign 0.00
IGL01819:Phf11c APN 14 59,630,586 (GRCm39) missense probably benign 0.00
IGL02691:Phf11c APN 14 59,622,236 (GRCm39) missense probably damaging 1.00
R0029:Phf11c UTSW 14 59,622,364 (GRCm39) missense probably benign 0.02
R0965:Phf11c UTSW 14 59,618,931 (GRCm39) missense probably damaging 1.00
R3001:Phf11c UTSW 14 59,622,289 (GRCm39) missense probably damaging 1.00
R3002:Phf11c UTSW 14 59,622,289 (GRCm39) missense probably damaging 1.00
R3081:Phf11c UTSW 14 59,618,933 (GRCm39) missense probably benign
R4230:Phf11c UTSW 14 59,630,516 (GRCm39) missense probably benign 0.00
R4432:Phf11c UTSW 14 59,628,384 (GRCm39) missense possibly damaging 0.67
R8981:Phf11c UTSW 14 59,628,412 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GAAATGGTCCACTCCAGCTC -3'
(R):5'- ATGCCATTTGGATCCAGGAG -3'

Sequencing Primer
(F):5'- GGTCCACTCCAGCTCAAATAACTATG -3'
(R):5'- GCCATTTGGATCCAGGAGTTCATC -3'
Posted On 2016-11-08