Incidental Mutation 'R0688:Phyhipl'
ID 61243
Institutional Source Beutler Lab
Gene Symbol Phyhipl
Ensembl Gene ENSMUSG00000037747
Gene Name phytanoyl-CoA hydroxylase interacting protein-like
Synonyms 4921522K17Rik, PHY2
MMRRC Submission 038873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R0688 (G1)
Quality Score 130
Status Not validated
Chromosome 10
Chromosomal Location 70393516-70435121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70395085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 329 (G329R)
Ref Sequence ENSEMBL: ENSMUSP00000125179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046513] [ENSMUST00000062883] [ENSMUST00000105436] [ENSMUST00000162251] [ENSMUST00000173042]
AlphaFold Q8BGT8
Predicted Effect probably damaging
Transcript: ENSMUST00000046513
AA Change: G374R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045807
Gene: ENSMUSG00000037747
AA Change: G374R

DomainStartEndE-ValueType
FN3 49 142 6.16e-2 SMART
Blast:FN3 188 262 2e-45 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000062883
SMART Domains Protein: ENSMUSP00000051375
Gene: ENSMUSG00000043259

DomainStartEndE-ValueType
low complexity region 200 222 N/A INTRINSIC
low complexity region 274 294 N/A INTRINSIC
coiled coil region 304 372 N/A INTRINSIC
coiled coil region 529 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105436
SMART Domains Protein: ENSMUSP00000101076
Gene: ENSMUSG00000043259

DomainStartEndE-ValueType
low complexity region 118 140 N/A INTRINSIC
low complexity region 192 212 N/A INTRINSIC
coiled coil region 222 290 N/A INTRINSIC
coiled coil region 447 475 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162144
SMART Domains Protein: ENSMUSP00000124828
Gene: ENSMUSG00000037747

DomainStartEndE-ValueType
FN3 37 130 6.16e-2 SMART
Blast:FN3 176 212 1e-15 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000162251
AA Change: G329R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125179
Gene: ENSMUSG00000037747
AA Change: G329R

DomainStartEndE-ValueType
FN3 4 97 6.16e-2 SMART
Blast:FN3 143 217 9e-46 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162470
Predicted Effect probably benign
Transcript: ENSMUST00000173042
SMART Domains Protein: ENSMUSP00000134648
Gene: ENSMUSG00000043259

DomainStartEndE-ValueType
low complexity region 200 222 N/A INTRINSIC
low complexity region 274 294 N/A INTRINSIC
coiled coil region 304 372 N/A INTRINSIC
coiled coil region 528 556 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219514
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T G 9: 104,001,299 (GRCm39) V615G probably damaging Het
Apaf1 T G 10: 90,897,567 (GRCm39) E305D possibly damaging Het
Apol10b A G 15: 77,469,419 (GRCm39) S253P probably damaging Het
Bbs9 T A 9: 22,479,015 (GRCm39) C153S probably damaging Het
Bicra C T 7: 15,723,247 (GRCm39) G90D probably damaging Het
Clca4a A C 3: 144,667,735 (GRCm39) L412R probably damaging Het
Cul3 A T 1: 80,249,281 (GRCm39) D597E possibly damaging Het
Cxcr5 A G 9: 44,424,964 (GRCm39) probably null Het
Dnah10 T C 5: 124,824,782 (GRCm39) I646T possibly damaging Het
Focad T A 4: 88,192,450 (GRCm39) V593D unknown Het
Fsip2 T A 2: 82,812,683 (GRCm39) S3001T probably benign Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gdf9 T A 11: 53,327,467 (GRCm39) L141Q probably damaging Het
Gpr180 A G 14: 118,385,596 (GRCm39) D136G probably benign Het
Hsd3b9 T C 3: 98,363,710 (GRCm39) E45G probably benign Het
Itga2 G T 13: 114,976,090 (GRCm39) A1094E probably benign Het
Ly75 C T 2: 60,146,565 (GRCm39) A1238T probably benign Het
Macc1 T C 12: 119,410,738 (GRCm39) V502A probably damaging Het
Mroh4 T C 15: 74,478,527 (GRCm39) K923E probably damaging Het
Msh3 G A 13: 92,487,939 (GRCm39) P93S possibly damaging Het
Myo18a A G 11: 77,714,966 (GRCm39) D474G probably damaging Het
Npat T A 9: 53,481,522 (GRCm39) Y1077N probably benign Het
Or4c109 A T 2: 88,817,939 (GRCm39) S202R probably damaging Het
Or6c69 T G 10: 129,747,752 (GRCm39) T132P probably damaging Het
Or6k14 A C 1: 173,927,630 (GRCm39) H202P probably damaging Het
Or8u8 A T 2: 86,011,949 (GRCm39) probably null Het
Paqr5 T G 9: 61,880,076 (GRCm39) T59P probably benign Het
Pomgnt1 T C 4: 116,013,086 (GRCm39) Y430H probably damaging Het
Pramel21 T C 4: 143,343,927 (GRCm39) F409S probably benign Het
Prkd3 A T 17: 79,264,662 (GRCm39) M651K probably damaging Het
Puf60 A T 15: 75,942,623 (GRCm39) M440K probably damaging Het
Recql4 A G 15: 76,594,009 (GRCm39) probably null Het
Sgk1 A C 10: 21,874,059 (GRCm39) M320L probably benign Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Sorbs1 T C 19: 40,351,706 (GRCm39) T235A probably damaging Het
Srrm3 A G 5: 135,898,130 (GRCm39) probably benign Het
Tex15 C T 8: 34,063,528 (GRCm39) T986I probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zswim4 T C 8: 84,955,517 (GRCm39) M301V possibly damaging Het
Other mutations in Phyhipl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02140:Phyhipl APN 10 70,406,660 (GRCm39) missense probably damaging 1.00
IGL03374:Phyhipl APN 10 70,401,109 (GRCm39) missense possibly damaging 0.47
PIT4366001:Phyhipl UTSW 10 70,404,788 (GRCm39) missense probably benign
R0512:Phyhipl UTSW 10 70,404,748 (GRCm39) missense probably damaging 0.99
R1136:Phyhipl UTSW 10 70,404,902 (GRCm39) missense probably damaging 1.00
R1465:Phyhipl UTSW 10 70,406,798 (GRCm39) missense probably damaging 1.00
R1465:Phyhipl UTSW 10 70,406,798 (GRCm39) missense probably damaging 1.00
R1802:Phyhipl UTSW 10 70,434,855 (GRCm39) missense probably benign
R1978:Phyhipl UTSW 10 70,395,591 (GRCm39) missense possibly damaging 0.94
R4077:Phyhipl UTSW 10 70,404,903 (GRCm39) missense probably damaging 1.00
R4960:Phyhipl UTSW 10 70,404,815 (GRCm39) missense probably benign 0.40
R4976:Phyhipl UTSW 10 70,404,904 (GRCm39) missense probably damaging 1.00
R5119:Phyhipl UTSW 10 70,404,904 (GRCm39) missense probably damaging 1.00
R5739:Phyhipl UTSW 10 70,395,399 (GRCm39) missense possibly damaging 0.92
R6303:Phyhipl UTSW 10 70,395,387 (GRCm39) splice site probably null
R6304:Phyhipl UTSW 10 70,395,387 (GRCm39) splice site probably null
R6649:Phyhipl UTSW 10 70,404,843 (GRCm39) missense probably damaging 1.00
R9150:Phyhipl UTSW 10 70,404,887 (GRCm39) missense probably damaging 1.00
R9237:Phyhipl UTSW 10 70,406,720 (GRCm39) missense possibly damaging 0.82
R9293:Phyhipl UTSW 10 70,401,116 (GRCm39) missense probably damaging 0.97
R9461:Phyhipl UTSW 10 70,395,243 (GRCm39) missense possibly damaging 0.95
R9595:Phyhipl UTSW 10 70,395,512 (GRCm39) nonsense probably null
X0022:Phyhipl UTSW 10 70,404,791 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCAGCATCTAGGCAAACAGTGTCAG -3'
(R):5'- AGCAGCGCCTTCCTCAACTAAATTC -3'

Sequencing Primer
(F):5'- AACCTGGGGACATCGTTG -3'
(R):5'- TACAGAAGAAGATGGGGTGCTG -3'
Posted On 2013-07-30