Incidental Mutation 'IGL02498:2010300C02Rik'
ID295908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2010300C02Rik
Ensembl Gene ENSMUSG00000026090
Gene NameRIKEN cDNA 2010300C02 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL02498
Quality Score
Status
Chromosome1
Chromosomal Location37611677-37720085 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37623845 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 991 (T991A)
Ref Sequence ENSEMBL: ENSMUSP00000123803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162875]
Predicted Effect unknown
Transcript: ENSMUST00000160023
AA Change: T466A
SMART Domains Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090
AA Change: T466A

DomainStartEndE-ValueType
internal_repeat_1 2 65 4.52e-24 PROSPERO
internal_repeat_1 65 128 4.52e-24 PROSPERO
low complexity region 181 194 N/A INTRINSIC
low complexity region 223 237 N/A INTRINSIC
low complexity region 263 279 N/A INTRINSIC
low complexity region 441 465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162875
AA Change: T991A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: T991A

DomainStartEndE-ValueType
low complexity region 13 43 N/A INTRINSIC
Pfam:DUF4592 130 243 1.8e-33 PFAM
low complexity region 347 366 N/A INTRINSIC
internal_repeat_2 387 461 2.31e-5 PROSPERO
internal_repeat_3 404 474 3.67e-5 PROSPERO
internal_repeat_1 411 526 3.02e-34 PROSPERO
internal_repeat_2 485 559 2.31e-5 PROSPERO
internal_repeat_1 537 652 3.02e-34 PROSPERO
internal_repeat_3 570 698 3.67e-5 PROSPERO
low complexity region 705 718 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 787 803 N/A INTRINSIC
low complexity region 965 989 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abcc9 A T 6: 142,671,539 probably null Het
Abcg8 T C 17: 84,683,265 W12R probably benign Het
Ablim1 A T 19: 57,152,319 C155* probably null Het
Adam33 A G 2: 131,053,237 C658R probably damaging Het
Adamts2 G T 11: 50,777,196 K528N probably damaging Het
Adamts2 A G 11: 50,773,308 H357R possibly damaging Het
Arhgef12 G A 9: 42,982,043 P955S probably benign Het
Atp2b2 T A 6: 113,793,854 I365F probably damaging Het
AW112010 T C 19: 11,048,337 noncoding transcript Het
AY358078 T C 14: 51,803,487 S88P probably benign Het
Cdc42bpg T C 19: 6,322,793 L1504S probably benign Het
Dgkg T A 16: 22,548,691 H593L probably damaging Het
Gm10463 T C 5: 32,131,398 probably benign Het
Grm1 A T 10: 10,719,979 L635Q probably damaging Het
Herc4 T C 10: 63,273,465 C160R probably benign Het
Hs6st1 G A 1: 36,103,740 R252H probably damaging Het
Litaf A G 16: 10,966,559 V29A possibly damaging Het
Lmo7 G A 14: 101,807,482 V57I probably benign Het
Loxl4 A T 19: 42,604,973 L253Q probably benign Het
Mon2 C T 10: 123,034,330 V458I probably benign Het
Ncstn G T 1: 172,068,592 F506L probably benign Het
Nedd8 T A 14: 55,663,816 D21V probably damaging Het
Oas1c T C 5: 120,805,526 T183A possibly damaging Het
Pcsk5 A T 19: 17,511,556 Y967N probably damaging Het
Phf2 A G 13: 48,805,239 S936P unknown Het
Pkd1 T C 17: 24,585,779 I3159T possibly damaging Het
Prrt3 C A 6: 113,497,827 V145F possibly damaging Het
Prx T A 7: 27,518,072 V666E probably damaging Het
Rapgef2 C T 3: 79,066,753 V1577M probably damaging Het
Sesn3 T C 9: 14,306,268 probably benign Het
Shoc2 T A 19: 54,027,776 L407* probably null Het
Slc6a12 A G 6: 121,361,070 M435V probably benign Het
Smarcc1 C T 9: 110,190,934 T623I probably damaging Het
Snx14 A G 9: 88,407,464 L245S probably damaging Het
Son T A 16: 91,656,825 M820K probably damaging Het
Sorcs1 T C 19: 50,678,168 T101A probably benign Het
Stoml2 C A 4: 43,031,045 V37L probably benign Het
Syde2 T A 3: 145,998,689 H465Q probably benign Het
Tmem164 T A X: 142,806,048 V40D possibly damaging Het
Trim37 A G 11: 87,185,050 E494G probably benign Het
Triobp A G 15: 78,961,043 D195G probably benign Het
Unc79 G A 12: 103,171,578 V2427M probably damaging Het
Usp27x T C X: 7,373,541 probably benign Het
Vmn2r113 T A 17: 22,958,375 V711D probably damaging Het
Zfp940 T C 7: 29,846,951 T7A probably damaging Het
Other mutations in 2010300C02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:2010300C02Rik APN 1 37628344 missense probably damaging 0.99
IGL01413:2010300C02Rik APN 1 37612306 missense possibly damaging 0.85
IGL01812:2010300C02Rik APN 1 37625365 missense probably benign 0.06
IGL02183:2010300C02Rik APN 1 37625378 missense possibly damaging 0.93
IGL02713:2010300C02Rik APN 1 37624137 missense possibly damaging 0.72
IGL02736:2010300C02Rik APN 1 37637873 missense probably damaging 1.00
FR4449:2010300C02Rik UTSW 1 37625035 missense probably benign 0.40
FR4449:2010300C02Rik UTSW 1 37625036 nonsense probably null
FR4548:2010300C02Rik UTSW 1 37625035 missense probably benign 0.40
FR4548:2010300C02Rik UTSW 1 37625036 nonsense probably null
FR4548:2010300C02Rik UTSW 1 37625102 missense probably damaging 0.96
FR4737:2010300C02Rik UTSW 1 37625035 missense probably benign 0.40
FR4737:2010300C02Rik UTSW 1 37625036 nonsense probably null
FR4976:2010300C02Rik UTSW 1 37625035 missense probably benign 0.40
FR4976:2010300C02Rik UTSW 1 37625036 nonsense probably null
FR4976:2010300C02Rik UTSW 1 37625102 missense probably damaging 0.96
R0022:2010300C02Rik UTSW 1 37628245 missense probably damaging 1.00
R0022:2010300C02Rik UTSW 1 37628245 missense probably damaging 1.00
R0055:2010300C02Rik UTSW 1 37624256 missense probably benign 0.18
R0153:2010300C02Rik UTSW 1 37624639 missense probably benign
R0523:2010300C02Rik UTSW 1 37644629 start codon destroyed probably null 0.94
R0699:2010300C02Rik UTSW 1 37612330 missense possibly damaging 0.85
R0928:2010300C02Rik UTSW 1 37624582 missense possibly damaging 0.85
R1457:2010300C02Rik UTSW 1 37626012 nonsense probably null
R1759:2010300C02Rik UTSW 1 37625710 missense probably benign 0.00
R1888:2010300C02Rik UTSW 1 37624283 missense possibly damaging 0.53
R1888:2010300C02Rik UTSW 1 37624283 missense possibly damaging 0.53
R2289:2010300C02Rik UTSW 1 37612261 missense possibly damaging 0.53
R2421:2010300C02Rik UTSW 1 37613475 missense probably benign 0.33
R2422:2010300C02Rik UTSW 1 37613475 missense probably benign 0.33
R2509:2010300C02Rik UTSW 1 37625300 missense probably benign
R2510:2010300C02Rik UTSW 1 37625300 missense probably benign
R2511:2010300C02Rik UTSW 1 37625300 missense probably benign
R3893:2010300C02Rik UTSW 1 37631458 missense probably benign 0.00
R4351:2010300C02Rik UTSW 1 37624912 missense probably benign
R4454:2010300C02Rik UTSW 1 37624753 missense probably damaging 1.00
R4788:2010300C02Rik UTSW 1 37631475 missense probably damaging 1.00
R4798:2010300C02Rik UTSW 1 37624965 missense probably benign 0.12
R5599:2010300C02Rik UTSW 1 37613343 missense possibly damaging 0.53
R5920:2010300C02Rik UTSW 1 37637981 missense probably damaging 1.00
R6051:2010300C02Rik UTSW 1 37624225 missense probably damaging 0.98
R6106:2010300C02Rik UTSW 1 37613412 missense possibly damaging 0.53
R6794:2010300C02Rik UTSW 1 37637855 splice site probably null
R6828:2010300C02Rik UTSW 1 37624817 missense possibly damaging 0.53
R6930:2010300C02Rik UTSW 1 37624945 missense possibly damaging 0.73
X0025:2010300C02Rik UTSW 1 37624945 missense probably benign 0.33
Posted On2015-04-16