Incidental Mutation 'R7397:Asphd1'
ID 573891
Institutional Source Beutler Lab
Gene Symbol Asphd1
Ensembl Gene ENSMUSG00000046378
Gene Name aspartate beta-hydroxylase domain containing 1
Synonyms A830007L07Rik
MMRRC Submission 045479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R7397 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126545159-126548754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126548001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 101 (R101W)
Ref Sequence ENSEMBL: ENSMUSP00000101947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032924] [ENSMUST00000052937] [ENSMUST00000106332] [ENSMUST00000106333] [ENSMUST00000106335] [ENSMUST00000106339] [ENSMUST00000106340] [ENSMUST00000146017]
AlphaFold Q2TA57
Predicted Effect probably benign
Transcript: ENSMUST00000032924
SMART Domains Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 18 32 N/A INTRINSIC
BTB 41 141 6.48e-15 SMART
low complexity region 276 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000052937
SMART Domains Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106332
SMART Domains Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 70 86 N/A INTRINSIC
low complexity region 93 108 N/A INTRINSIC
CUB 113 226 8.25e-4 SMART
CCP 230 285 3.75e-15 SMART
CUB 289 399 1.3e-3 SMART
CCP 404 463 8.9e-8 SMART
CUB 467 578 3.45e-14 SMART
CCP 584 639 1.18e-12 SMART
CCP 645 704 1.31e-14 SMART
CCP 711 768 2.76e-13 SMART
transmembrane domain 798 820 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106333
SMART Domains Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 115 146 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
CUB 173 286 8.25e-4 SMART
CCP 290 345 3.75e-15 SMART
CUB 349 459 1.3e-3 SMART
CCP 464 523 8.9e-8 SMART
CUB 527 638 3.45e-14 SMART
CCP 644 699 1.18e-12 SMART
CCP 705 764 1.31e-14 SMART
CCP 771 828 2.76e-13 SMART
transmembrane domain 858 880 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106335
SMART Domains Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 115 146 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
CUB 173 286 8.25e-4 SMART
CCP 290 345 3.75e-15 SMART
CUB 349 459 1.3e-3 SMART
CCP 464 523 8.9e-8 SMART
CUB 527 638 3.45e-14 SMART
CCP 644 699 1.18e-12 SMART
CCP 705 764 1.31e-14 SMART
CCP 771 828 2.76e-13 SMART
transmembrane domain 845 867 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106339
SMART Domains Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106340
AA Change: R101W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378
AA Change: R101W

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
low complexity region 115 128 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
low complexity region 157 170 N/A INTRINSIC
Pfam:Asp_Arg_Hydrox 191 342 1.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146017
SMART Domains Protein: ENSMUSP00000115905
Gene: ENSMUSG00000030683

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 72 91 N/A INTRINSIC
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik T C 2: 155,845,848 (GRCm39) H3R unknown Het
Adam18 T A 8: 25,136,321 (GRCm39) E400V possibly damaging Het
Ak5 A T 3: 152,183,989 (GRCm39) F473I probably damaging Het
Arhgef10l G A 4: 140,290,115 (GRCm39) P486S probably damaging Het
Bhlha15 G A 5: 144,128,223 (GRCm39) E112K probably damaging Het
C4b A T 17: 34,961,364 (GRCm39) D198E possibly damaging Het
Carmil1 G T 13: 24,228,294 (GRCm39) P961T probably damaging Het
Catsperb T C 12: 101,554,282 (GRCm39) S659P possibly damaging Het
Cdh3 C T 8: 107,263,241 (GRCm39) R97* probably null Het
Cep192 T C 18: 67,989,268 (GRCm39) I1805T probably damaging Het
Cep250 T G 2: 155,823,331 (GRCm39) L995R probably damaging Het
Cfap276 T A 3: 108,450,864 (GRCm39) I102N probably benign Het
Cfap53 T C 18: 74,416,294 (GRCm39) V9A possibly damaging Het
Chd5 A G 4: 152,452,469 (GRCm39) K809E possibly damaging Het
Csmd3 T C 15: 47,559,130 (GRCm39) T1467A Het
Ctla2a T A 13: 61,083,463 (GRCm39) R60S probably damaging Het
Cts6 A T 13: 61,350,014 (GRCm39) D22E possibly damaging Het
Ctsll3 T A 13: 60,948,532 (GRCm39) E109V probably benign Het
Dgka G A 10: 128,556,594 (GRCm39) P701S possibly damaging Het
Dnhd1 A T 7: 105,354,504 (GRCm39) I3089F possibly damaging Het
Dock2 T A 11: 34,609,816 (GRCm39) D208V probably benign Het
Fnbp1l G T 3: 122,338,286 (GRCm39) Q520K probably benign Het
Foxc1 A G 13: 31,991,618 (GRCm39) D143G probably damaging Het
Fsip2 G A 2: 82,815,601 (GRCm39) R3778Q possibly damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gm4871 A T 5: 144,969,508 (GRCm39) C4S probably damaging Het
Gpt C A 15: 76,582,717 (GRCm39) T294K probably benign Het
Hsd17b4 G T 18: 50,279,491 (GRCm39) G157C probably damaging Het
Iars1 G A 13: 49,882,153 (GRCm39) E1066K probably benign Het
Ifih1 G A 2: 62,453,832 (GRCm39) T260I possibly damaging Het
Ighv5-8 TATATATATATATATATATATA TATATATATATATATATATATATA 12: 113,618,565 (GRCm39) probably null Het
Ipcef1 T A 10: 6,922,244 (GRCm39) *338R probably null Het
Kif20a A G 18: 34,760,729 (GRCm39) T166A probably damaging Het
Map3k1 G A 13: 111,891,742 (GRCm39) A1171V probably damaging Het
Map3k21 T C 8: 126,661,855 (GRCm39) F484S probably damaging Het
Mbnl1 A T 3: 60,523,051 (GRCm39) Q180L probably benign Het
Mmp2 T C 8: 93,562,755 (GRCm39) F331L possibly damaging Het
Ms4a7 G T 19: 11,298,916 (GRCm39) H257N probably benign Het
Mtbp T A 15: 55,432,547 (GRCm39) S285T probably benign Het
Mtrex A T 13: 113,058,220 (GRCm39) D70E probably benign Het
Myo1c A G 11: 75,562,068 (GRCm39) N852S probably benign Het
Myom3 T A 4: 135,510,429 (GRCm39) F574Y probably damaging Het
Nbeal2 A G 9: 110,457,100 (GRCm39) I2322T possibly damaging Het
Nlrp10 A G 7: 108,523,899 (GRCm39) L527P probably damaging Het
Nudt16l2 A T 9: 105,021,621 (GRCm39) W142R probably damaging Het
Nxnl1 C T 8: 72,019,105 (GRCm39) G40D probably damaging Het
Or52n1 C T 7: 104,382,815 (GRCm39) C252Y possibly damaging Het
Or5af1 C T 11: 58,722,115 (GRCm39) T45M probably benign Het
Otof A T 5: 30,533,051 (GRCm39) W1564R probably damaging Het
Pcdhga7 A G 18: 37,850,327 (GRCm39) Y778C probably benign Het
Pcnx2 C T 8: 126,617,624 (GRCm39) probably null Het
Pdpr T A 8: 111,839,385 (GRCm39) N169K possibly damaging Het
Pkd1l2 C A 8: 117,762,641 (GRCm39) V1379F possibly damaging Het
Ppp4r1 T G 17: 66,144,786 (GRCm39) I801S probably benign Het
Ppp4r4 A T 12: 103,579,065 (GRCm39) probably null Het
Prl2c5 A G 13: 13,366,327 (GRCm39) D202G probably benign Het
Rap1gap2 T C 11: 74,305,237 (GRCm39) T323A probably benign Het
Rapgef4 T C 2: 72,036,010 (GRCm39) M501T probably benign Het
Rbm6 A G 9: 107,729,718 (GRCm39) M310T probably benign Het
Rdh1 A T 10: 127,596,047 (GRCm39) I81F probably benign Het
Rock1 C T 18: 10,097,599 (GRCm39) A730T possibly damaging Het
Rsl1 C T 13: 67,330,101 (GRCm39) T183I possibly damaging Het
Scyl3 T C 1: 163,778,487 (GRCm39) probably null Het
Snap29 T C 16: 17,237,236 (GRCm39) F116L probably damaging Het
Syt5 A T 7: 4,545,395 (GRCm39) probably null Het
Tat T C 8: 110,724,200 (GRCm39) L363P probably damaging Het
Ttn A G 2: 76,601,316 (GRCm39) V18719A possibly damaging Het
Ube2e2 T A 14: 18,630,339 (GRCm38) D107V probably damaging Het
Vmn1r64 A G 7: 5,887,013 (GRCm39) S177P possibly damaging Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S possibly damaging Het
Vmn2r124 T C 17: 18,282,947 (GRCm39) W214R probably damaging Het
Vmn2r25 A T 6: 123,800,498 (GRCm39) F615I probably damaging Het
Vmn2r91 G T 17: 18,356,060 (GRCm39) V576L probably benign Het
Vsig10l A C 7: 43,117,431 (GRCm39) T573P probably damaging Het
Wdr93 A G 7: 79,416,172 (GRCm39) Q276R probably null Het
Zc3h7b T C 15: 81,653,354 (GRCm39) V86A possibly damaging Het
Zeb1 T A 18: 5,761,394 (GRCm39) Y231N probably damaging Het
Zfp407 T C 18: 84,579,944 (GRCm39) K390E possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Asphd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02388:Asphd1 APN 7 126,545,884 (GRCm39) unclassified probably benign
IGL02675:Asphd1 APN 7 126,546,006 (GRCm39) unclassified probably benign
IGL03133:Asphd1 APN 7 126,547,452 (GRCm39) missense possibly damaging 0.85
IGL03197:Asphd1 APN 7 126,545,298 (GRCm39) missense probably damaging 1.00
BB002:Asphd1 UTSW 7 126,547,628 (GRCm39) missense probably damaging 0.99
BB012:Asphd1 UTSW 7 126,547,628 (GRCm39) missense probably damaging 0.99
R1572:Asphd1 UTSW 7 126,548,271 (GRCm39) missense probably benign
R4871:Asphd1 UTSW 7 126,547,747 (GRCm39) missense possibly damaging 0.84
R4952:Asphd1 UTSW 7 126,547,857 (GRCm39) missense probably benign 0.05
R5261:Asphd1 UTSW 7 126,545,287 (GRCm39) missense probably benign 0.12
R5504:Asphd1 UTSW 7 126,545,350 (GRCm39) missense possibly damaging 0.89
R6254:Asphd1 UTSW 7 126,548,040 (GRCm39) missense probably benign 0.00
R7068:Asphd1 UTSW 7 126,547,850 (GRCm39) missense probably benign 0.00
R7250:Asphd1 UTSW 7 126,545,942 (GRCm39) missense probably damaging 1.00
R7925:Asphd1 UTSW 7 126,547,628 (GRCm39) missense probably damaging 0.99
R8306:Asphd1 UTSW 7 126,547,784 (GRCm39) missense probably damaging 1.00
R9202:Asphd1 UTSW 7 126,547,934 (GRCm39) missense probably damaging 0.99
R9622:Asphd1 UTSW 7 126,547,974 (GRCm39) missense
Z1176:Asphd1 UTSW 7 126,547,808 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATCACGTGGTACAAAGGG -3'
(R):5'- CATGTTTCCATGGCCACTGC -3'

Sequencing Primer
(F):5'- CAGGTCTGGTAGAAAAAGTAAGCC -3'
(R):5'- TGGTATTGCTACCGACTG -3'
Posted On 2019-09-13