Incidental Mutation 'IGL01696:Itprid1'
ID 104277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itprid1
Ensembl Gene ENSMUSG00000037973
Gene Name ITPR interacting domain containing 1
Synonyms D530004J12Rik, Ccdc129
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01696
Quality Score
Status
Chromosome 6
Chromosomal Location 55813880-55955720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55874680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 210 (H210R)
Ref Sequence ENSEMBL: ENSMUSP00000045332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044729]
AlphaFold Q14B48
Predicted Effect probably benign
Transcript: ENSMUST00000044729
AA Change: H210R

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: H210R

DomainStartEndE-ValueType
KRAP_IP3R_bind 112 264 2.99e-82 SMART
low complexity region 326 334 N/A INTRINSIC
low complexity region 432 442 N/A INTRINSIC
low complexity region 477 496 N/A INTRINSIC
low complexity region 498 511 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
Pfam:SSFA2_C 806 916 3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169699
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A G 5: 121,638,856 (GRCm39) S730P possibly damaging Het
Ano3 T G 2: 110,498,082 (GRCm39) D753A probably damaging Het
Apoc4 C T 7: 19,412,109 (GRCm39) C113Y probably damaging Het
Arhgdia A G 11: 120,471,202 (GRCm39) probably benign Het
Ccdc171 A G 4: 83,573,815 (GRCm39) T459A possibly damaging Het
Ccdc190 A C 1: 169,761,393 (GRCm39) K165T probably damaging Het
Dop1b T C 16: 93,567,128 (GRCm39) V1185A probably benign Het
Ednrb C T 14: 104,060,625 (GRCm39) V223I probably benign Het
Ermp1 T C 19: 29,623,538 (GRCm39) I151V possibly damaging Het
Gm15737 T A 6: 92,856,802 (GRCm39) probably benign Het
Herc3 A G 6: 58,837,371 (GRCm39) H348R possibly damaging Het
Immp2l G T 12: 41,675,590 (GRCm39) A95S probably damaging Het
Invs A G 4: 48,425,997 (GRCm39) Y928C probably damaging Het
Or1l4 A G 2: 37,091,523 (GRCm39) E90G probably benign Het
Or7g17 A T 9: 18,768,352 (GRCm39) I135L probably benign Het
Or8c15 A C 9: 38,120,345 (GRCm39) probably benign Het
Pkd1l2 G T 8: 117,783,126 (GRCm39) S731R probably benign Het
Pkhd1l1 T C 15: 44,392,747 (GRCm39) M1694T possibly damaging Het
Pld2 C A 11: 70,433,606 (GRCm39) R212S probably damaging Het
Plekhg6 A G 6: 125,355,793 (GRCm39) F4L probably benign Het
Rps6ka6 T C X: 110,317,214 (GRCm39) Q634R probably benign Het
Slc1a3 T C 15: 8,671,822 (GRCm39) E378G probably benign Het
Tmem184b T C 15: 79,262,729 (GRCm39) T43A possibly damaging Het
Ttn A G 2: 76,577,132 (GRCm39) V24587A probably damaging Het
Uba7 T A 9: 107,854,547 (GRCm39) L262Q probably damaging Het
Zfp954 G T 7: 7,118,397 (GRCm39) H382Q probably damaging Het
Other mutations in Itprid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Itprid1 APN 6 55,945,022 (GRCm39) missense possibly damaging 0.90
IGL01317:Itprid1 APN 6 55,944,790 (GRCm39) missense possibly damaging 0.77
IGL01390:Itprid1 APN 6 55,874,983 (GRCm39) missense probably benign 0.41
IGL01941:Itprid1 APN 6 55,945,030 (GRCm39) missense probably benign
IGL01967:Itprid1 APN 6 55,874,896 (GRCm39) missense probably damaging 0.99
IGL02071:Itprid1 APN 6 55,944,710 (GRCm39) nonsense probably null
IGL02232:Itprid1 APN 6 55,944,922 (GRCm39) missense unknown
IGL02268:Itprid1 APN 6 55,861,673 (GRCm39) splice site probably benign
IGL02440:Itprid1 APN 6 55,861,713 (GRCm39) missense possibly damaging 0.95
IGL02614:Itprid1 APN 6 55,945,262 (GRCm39) missense probably damaging 0.99
IGL02626:Itprid1 APN 6 55,945,631 (GRCm39) missense probably benign 0.03
IGL02674:Itprid1 APN 6 55,874,913 (GRCm39) missense probably benign 0.04
IGL02836:Itprid1 APN 6 55,875,075 (GRCm39) missense probably damaging 1.00
IGL02884:Itprid1 APN 6 55,851,339 (GRCm39) splice site probably null
IGL02889:Itprid1 APN 6 55,878,443 (GRCm39) missense possibly damaging 0.46
IGL03103:Itprid1 APN 6 55,945,144 (GRCm39) missense possibly damaging 0.59
IGL03117:Itprid1 APN 6 55,875,114 (GRCm39) missense probably benign 0.25
IGL03343:Itprid1 APN 6 55,945,569 (GRCm39) missense probably damaging 1.00
BB006:Itprid1 UTSW 6 55,874,946 (GRCm39) missense probably damaging 1.00
BB016:Itprid1 UTSW 6 55,874,946 (GRCm39) missense probably damaging 1.00
PIT4418001:Itprid1 UTSW 6 55,945,330 (GRCm39) missense probably damaging 1.00
R0054:Itprid1 UTSW 6 55,849,457 (GRCm39) utr 5 prime probably benign
R0200:Itprid1 UTSW 6 55,874,941 (GRCm39) missense probably benign 0.10
R0245:Itprid1 UTSW 6 55,874,992 (GRCm39) missense probably damaging 1.00
R0320:Itprid1 UTSW 6 55,953,432 (GRCm39) missense probably damaging 1.00
R0326:Itprid1 UTSW 6 55,875,228 (GRCm39) missense possibly damaging 0.61
R0357:Itprid1 UTSW 6 55,945,019 (GRCm39) missense probably benign 0.13
R1109:Itprid1 UTSW 6 55,945,245 (GRCm39) missense probably damaging 1.00
R1118:Itprid1 UTSW 6 55,866,155 (GRCm39) missense probably damaging 1.00
R1119:Itprid1 UTSW 6 55,866,155 (GRCm39) missense probably damaging 1.00
R1462:Itprid1 UTSW 6 55,952,649 (GRCm39) missense probably damaging 1.00
R1462:Itprid1 UTSW 6 55,952,649 (GRCm39) missense probably damaging 1.00
R1588:Itprid1 UTSW 6 55,955,488 (GRCm39) missense possibly damaging 0.72
R1678:Itprid1 UTSW 6 55,945,499 (GRCm39) missense probably benign 0.35
R1680:Itprid1 UTSW 6 55,945,751 (GRCm39) missense probably damaging 1.00
R1728:Itprid1 UTSW 6 55,945,526 (GRCm39) missense probably benign 0.01
R1729:Itprid1 UTSW 6 55,945,526 (GRCm39) missense probably benign 0.01
R1737:Itprid1 UTSW 6 55,945,289 (GRCm39) missense probably damaging 1.00
R1771:Itprid1 UTSW 6 55,875,132 (GRCm39) missense probably benign 0.40
R1784:Itprid1 UTSW 6 55,945,526 (GRCm39) missense probably benign 0.01
R1936:Itprid1 UTSW 6 55,874,666 (GRCm39) missense probably damaging 1.00
R1995:Itprid1 UTSW 6 55,945,694 (GRCm39) missense probably benign 0.03
R2037:Itprid1 UTSW 6 55,874,860 (GRCm39) missense probably benign 0.00
R2137:Itprid1 UTSW 6 55,866,174 (GRCm39) missense probably damaging 1.00
R2190:Itprid1 UTSW 6 55,874,685 (GRCm39) missense possibly damaging 0.87
R2191:Itprid1 UTSW 6 55,944,704 (GRCm39) missense probably benign 0.06
R2234:Itprid1 UTSW 6 55,874,797 (GRCm39) missense possibly damaging 0.67
R2235:Itprid1 UTSW 6 55,874,797 (GRCm39) missense possibly damaging 0.67
R3793:Itprid1 UTSW 6 55,952,588 (GRCm39) missense possibly damaging 0.80
R3923:Itprid1 UTSW 6 55,945,045 (GRCm39) missense probably benign 0.19
R3959:Itprid1 UTSW 6 55,874,725 (GRCm39) missense probably benign
R4332:Itprid1 UTSW 6 55,945,220 (GRCm39) missense possibly damaging 0.95
R4485:Itprid1 UTSW 6 55,864,051 (GRCm39) missense probably benign 0.00
R4688:Itprid1 UTSW 6 55,944,132 (GRCm39) splice site probably null
R4916:Itprid1 UTSW 6 55,955,175 (GRCm39) missense possibly damaging 0.77
R5201:Itprid1 UTSW 6 55,944,991 (GRCm39) missense probably benign 0.03
R5383:Itprid1 UTSW 6 55,955,275 (GRCm39) missense probably benign 0.38
R5450:Itprid1 UTSW 6 55,945,796 (GRCm39) critical splice donor site probably null
R5542:Itprid1 UTSW 6 55,955,380 (GRCm39) missense probably damaging 0.99
R5819:Itprid1 UTSW 6 55,874,876 (GRCm39) missense probably benign 0.18
R5935:Itprid1 UTSW 6 55,874,754 (GRCm39) nonsense probably null
R6034:Itprid1 UTSW 6 55,944,666 (GRCm39) missense possibly damaging 0.94
R6034:Itprid1 UTSW 6 55,944,666 (GRCm39) missense possibly damaging 0.94
R6209:Itprid1 UTSW 6 55,851,306 (GRCm39) missense probably damaging 1.00
R6246:Itprid1 UTSW 6 55,944,657 (GRCm39) missense probably damaging 1.00
R6463:Itprid1 UTSW 6 55,945,663 (GRCm39) missense probably benign 0.17
R6490:Itprid1 UTSW 6 55,953,405 (GRCm39) missense probably damaging 1.00
R6948:Itprid1 UTSW 6 55,955,470 (GRCm39) missense probably benign
R7148:Itprid1 UTSW 6 55,874,671 (GRCm39) missense probably damaging 1.00
R7382:Itprid1 UTSW 6 55,955,404 (GRCm39) missense probably benign 0.02
R7403:Itprid1 UTSW 6 55,953,399 (GRCm39) nonsense probably null
R7846:Itprid1 UTSW 6 55,955,320 (GRCm39) missense possibly damaging 0.89
R7929:Itprid1 UTSW 6 55,874,946 (GRCm39) missense probably damaging 1.00
R8054:Itprid1 UTSW 6 55,953,424 (GRCm39) missense probably damaging 0.98
R8438:Itprid1 UTSW 6 55,874,878 (GRCm39) missense probably damaging 1.00
R8497:Itprid1 UTSW 6 55,875,179 (GRCm39) missense probably benign 0.02
R8677:Itprid1 UTSW 6 55,849,579 (GRCm39) missense probably benign 0.00
R9090:Itprid1 UTSW 6 55,944,051 (GRCm39) missense probably benign 0.28
R9196:Itprid1 UTSW 6 55,952,613 (GRCm39) missense probably damaging 1.00
R9271:Itprid1 UTSW 6 55,944,051 (GRCm39) missense probably benign 0.28
R9344:Itprid1 UTSW 6 55,955,470 (GRCm39) missense probably benign
R9384:Itprid1 UTSW 6 55,952,613 (GRCm39) missense probably damaging 1.00
R9558:Itprid1 UTSW 6 55,944,969 (GRCm39) missense possibly damaging 0.94
R9711:Itprid1 UTSW 6 55,864,018 (GRCm39) missense probably damaging 1.00
Z1177:Itprid1 UTSW 6 55,945,219 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21