Incidental Mutation 'R7006:Phf11d'
ID544737
Institutional Source Beutler Lab
Gene Symbol Phf11d
Ensembl Gene ENSMUSG00000068245
Gene NamePHD finger protein 11D
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #R7006 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location59347407-59365470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 59353374 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 178 (T178K)
Ref Sequence ENSEMBL: ENSMUSP00000124578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095157] [ENSMUST00000160425] [ENSMUST00000161031]
Predicted Effect probably benign
Transcript: ENSMUST00000095157
AA Change: T178K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000092779
Gene: ENSMUSG00000068245
AA Change: T178K

DomainStartEndE-ValueType
PHD 92 143 3.03e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160425
AA Change: T178K

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124578
Gene: ENSMUSG00000068245
AA Change: T178K

DomainStartEndE-ValueType
PHD 92 143 3.03e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161031
AA Change: T178K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125181
Gene: ENSMUSG00000068245
AA Change: T178K

DomainStartEndE-ValueType
PHD 92 143 3.03e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU mutated allele exhibit a change in the expression levels of immune response gene after LPS exposure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 G A 13: 68,888,020 T174M probably damaging Het
Ankfy1 T A 11: 72,740,464 I412N probably benign Het
AW146154 T C 7: 41,481,224 E156G possibly damaging Het
B4galnt1 T C 10: 127,169,831 L267P probably benign Het
Bod1l T C 5: 41,832,552 E276G probably damaging Het
Ccdc187 T C 2: 26,281,090 T459A probably benign Het
Cep72 G A 13: 74,050,308 Q311* probably null Het
Cir1 T C 2: 73,310,490 Q45R probably damaging Het
Ciz1 T C 2: 32,371,115 probably null Het
Crtap G T 9: 114,386,323 A166E probably damaging Het
Dmp1 A G 5: 104,212,322 D288G probably benign Het
Dusp27 T C 1: 166,099,094 N983S probably benign Het
Fam69a A G 5: 107,910,161 V132A probably benign Het
Fhad1 CGG CG 4: 141,918,291 probably null Het
Fmnl2 C A 2: 53,108,254 Q544K probably benign Het
Gm13178 A G 4: 144,721,283 V41A probably benign Het
Gm6657 T A 12: 78,208,928 *177R probably null Het
Gpsm1 T C 2: 26,322,560 L72P probably damaging Het
Gys1 G A 7: 45,440,013 A199T probably damaging Het
Kcnq3 A C 15: 66,020,316 Y403* probably null Het
Kcp A C 6: 29,499,170 Y298D probably damaging Het
Kif5c T C 2: 49,735,514 S599P probably damaging Het
Krt20 A T 11: 99,437,761 Y113N probably benign Het
Mcm8 T G 2: 132,823,261 V191G probably damaging Het
Msr1 T A 8: 39,589,382 D384V probably damaging Het
Mtpap A C 18: 4,380,873 S184R possibly damaging Het
Npc1l1 G A 11: 6,217,731 T1020M probably benign Het
Nphp4 A G 4: 152,488,802 T66A probably benign Het
Olfr1049 T A 2: 86,255,228 Q155L probably benign Het
Olfr1100 G A 2: 86,977,959 T279I probably damaging Het
Olfr1306 C A 2: 111,912,256 V225L probably benign Het
Olfr98 T A 17: 37,262,734 *310L probably null Het
Ppm1d A G 11: 85,337,151 K298E possibly damaging Het
Rab2b A T 14: 52,266,233 I144K probably benign Het
Stoml1 A G 9: 58,260,240 D5G probably damaging Het
Tanc1 T C 2: 59,795,844 V515A probably damaging Het
Tas1r3 A G 4: 155,862,904 V108A possibly damaging Het
Tcrg-C4 T A 13: 19,344,825 probably benign Het
Tifab T C 13: 56,176,246 Y128C probably benign Het
Tmc6 G T 11: 117,774,257 R397S probably damaging Het
Tnpo3 C T 6: 29,589,163 A63T probably damaging Het
Usp16 G T 16: 87,471,836 C284F probably damaging Het
Wipf1 T C 2: 73,437,097 D319G probably damaging Het
Xpnpep3 T A 15: 81,442,448 W347R probably damaging Het
Zfp180 G T 7: 24,105,112 E319* probably null Het
Other mutations in Phf11d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02808:Phf11d APN 14 59349290 missense probably damaging 1.00
IGL03213:Phf11d APN 14 59349348 missense probably benign 0.40
IGL03386:Phf11d APN 14 59361860 splice site probably benign
R0194:Phf11d UTSW 14 59352731 missense probably damaging 1.00
R0373:Phf11d UTSW 14 59353344 missense possibly damaging 0.67
R0845:Phf11d UTSW 14 59353344 missense possibly damaging 0.67
R1822:Phf11d UTSW 14 59356329 missense probably benign 0.00
R4716:Phf11d UTSW 14 59353342 missense probably benign 0.13
R5122:Phf11d UTSW 14 59353344 missense possibly damaging 0.67
R5257:Phf11d UTSW 14 59352711 missense possibly damaging 0.92
R5375:Phf11d UTSW 14 59352671 missense probably null 0.14
R5919:Phf11d UTSW 14 59356263 intron probably benign
R6008:Phf11d UTSW 14 59365449 unclassified probably benign
R6809:Phf11d UTSW 14 59356395 missense probably damaging 1.00
R7404:Phf11d UTSW 14 59359493 missense probably benign 0.00
R7860:Phf11d UTSW 14 59361831 missense probably damaging 1.00
R7887:Phf11d UTSW 14 59359580 missense probably damaging 1.00
R7943:Phf11d UTSW 14 59361831 missense probably damaging 1.00
R7970:Phf11d UTSW 14 59359580 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGCTCCAATAATTTTGATACAGC -3'
(R):5'- AGTGCCATTTGGATCCAGC -3'

Sequencing Primer
(F):5'- ACAGCAGTGTTGTAATGGATTAC -3'
(R):5'- TGGATCCAGCAGTTCATCAAG -3'
Posted On2019-05-13