Incidental Mutation 'IGL01837:R3hdm1'
ID154983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol R3hdm1
Ensembl Gene ENSMUSG00000056211
Gene NameR3H domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01837
Quality Score
Status
Chromosome1
Chromosomal Location128103301-128237736 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 128186760 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 184 (Q184*)
Ref Sequence ENSEMBL: ENSMUSP00000140209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036288] [ENSMUST00000187023] [ENSMUST00000187900] [ENSMUST00000190056]
Predicted Effect probably null
Transcript: ENSMUST00000036288
AA Change: Q493*
SMART Domains Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: Q493*

DomainStartEndE-ValueType
coiled coil region 9 31 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
low complexity region 86 99 N/A INTRINSIC
R3H 151 228 3.18e-22 SMART
Pfam:SUZ 249 302 8.8e-15 PFAM
low complexity region 391 424 N/A INTRINSIC
low complexity region 511 534 N/A INTRINSIC
low complexity region 624 642 N/A INTRINSIC
low complexity region 909 927 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185471
Predicted Effect probably null
Transcript: ENSMUST00000185853
AA Change: Q120*
Predicted Effect probably null
Transcript: ENSMUST00000187023
AA Change: Q437*
SMART Domains Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211
AA Change: Q437*

DomainStartEndE-ValueType
R3H 95 172 1.9e-24 SMART
Pfam:SUZ 193 246 2.6e-11 PFAM
low complexity region 335 368 N/A INTRINSIC
low complexity region 455 478 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000187900
AA Change: Q493*
SMART Domains Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
AA Change: Q493*

DomainStartEndE-ValueType
coiled coil region 9 31 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
low complexity region 86 99 N/A INTRINSIC
R3H 151 228 3.18e-22 SMART
Pfam:SUZ 249 302 2.7e-14 PFAM
low complexity region 391 424 N/A INTRINSIC
low complexity region 511 534 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000190056
AA Change: Q184*
SMART Domains Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: Q184*

DomainStartEndE-ValueType
low complexity region 82 115 N/A INTRINSIC
low complexity region 202 225 N/A INTRINSIC
low complexity region 281 299 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191016
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,408,697 F1372L probably damaging Het
Alcam T A 16: 52,253,168 N339I probably benign Het
Ankrd35 A C 3: 96,680,666 D141A probably damaging Het
Apc2 A G 10: 80,314,658 I1820V probably benign Het
Ccp110 T A 7: 118,725,461 probably null Het
Copa T A 1: 172,118,852 D954E probably benign Het
Csmd2 A T 4: 128,419,570 I1347F possibly damaging Het
Ddx10 A G 9: 53,229,198 I301T probably benign Het
Defb23 T A 2: 152,459,374 M93L probably benign Het
Dnah8 T C 17: 30,751,591 probably null Het
Dok3 T C 13: 55,523,570 E396G probably damaging Het
Eml6 T A 11: 29,777,055 M1318L probably benign Het
Foxm1 T A 6: 128,366,204 probably benign Het
Gm11992 A T 11: 9,061,266 R236W probably damaging Het
Gm12794 A G 4: 101,941,453 E207G probably damaging Het
Greb1 T C 12: 16,684,451 I1513V probably benign Het
Hivep3 A G 4: 120,094,562 E25G possibly damaging Het
Ighg2b C T 12: 113,306,445 E318K unknown Het
Itga4 T C 2: 79,315,005 S722P probably damaging Het
Kirrel3 G A 9: 35,034,928 R617H probably damaging Het
Mboat1 A T 13: 30,241,183 H409L possibly damaging Het
Naa15 A T 3: 51,443,948 K180* probably null Het
Nccrp1 A G 7: 28,546,766 S124P probably damaging Het
Nphp4 T C 4: 152,488,881 I92T probably damaging Het
Olfr214 C A 6: 116,556,846 Y140* probably null Het
Olfr61 G A 7: 140,638,211 C170Y probably damaging Het
Pkd1l3 A G 8: 109,630,166 D741G possibly damaging Het
Plcb2 C T 2: 118,711,926 probably null Het
Prm2 G A 16: 10,791,911 probably null Het
Rgl1 A T 1: 152,549,150 N359K probably damaging Het
Rnf44 A G 13: 54,682,153 Y366H probably damaging Het
Rpap2 G A 5: 107,625,969 probably null Het
Ryr3 T C 2: 112,801,320 N2120S probably damaging Het
Samd8 A G 14: 21,774,959 probably benign Het
Sipa1 G T 19: 5,652,071 T937K probably damaging Het
Sos1 A T 17: 80,422,728 D707E probably damaging Het
Tas2r109 T C 6: 132,980,514 N151S probably benign Het
Try5 T C 6: 41,313,424 N42S probably benign Het
Ttn G T 2: 76,901,994 probably benign Het
Utp14b A G 1: 78,664,919 E178G probably damaging Het
Other mutations in R3hdm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:R3hdm1 APN 1 128236439 missense probably damaging 1.00
IGL00799:R3hdm1 APN 1 128174963 missense probably damaging 1.00
IGL00835:R3hdm1 APN 1 128235632 splice site probably benign
IGL00885:R3hdm1 APN 1 128236438 missense probably damaging 0.99
IGL00990:R3hdm1 APN 1 128162196 intron probably benign
IGL01137:R3hdm1 APN 1 128181875 missense probably damaging 1.00
IGL01323:R3hdm1 APN 1 128216543 missense probably benign
IGL01461:R3hdm1 APN 1 128178906 missense probably damaging 1.00
IGL01565:R3hdm1 APN 1 128186816 missense probably damaging 1.00
IGL01813:R3hdm1 APN 1 128175233 critical splice donor site probably null
IGL01934:R3hdm1 APN 1 128236535 missense probably benign 0.12
IGL02074:R3hdm1 APN 1 128169038 missense possibly damaging 0.48
IGL02532:R3hdm1 APN 1 128197099 critical splice donor site probably null
IGL02606:R3hdm1 APN 1 128190719 missense probably benign 0.00
IGL02851:R3hdm1 APN 1 128174940 splice site probably benign
driven UTSW 1 128193565 missense probably benign 0.00
R0023:R3hdm1 UTSW 1 128211192 splice site probably benign
R0280:R3hdm1 UTSW 1 128162775 missense probably benign 0.00
R0482:R3hdm1 UTSW 1 128184517 missense probably benign 0.12
R0521:R3hdm1 UTSW 1 128193703 missense probably benign 0.07
R0578:R3hdm1 UTSW 1 128231437 nonsense probably null
R0698:R3hdm1 UTSW 1 128181739 missense probably damaging 1.00
R0701:R3hdm1 UTSW 1 128181739 missense probably damaging 1.00
R0961:R3hdm1 UTSW 1 128193596 missense probably benign 0.13
R1026:R3hdm1 UTSW 1 128197005 missense probably damaging 1.00
R1141:R3hdm1 UTSW 1 128231405 missense probably benign 0.01
R1319:R3hdm1 UTSW 1 128231405 missense probably benign 0.01
R1320:R3hdm1 UTSW 1 128231405 missense probably benign 0.01
R1511:R3hdm1 UTSW 1 128197005 missense probably damaging 1.00
R1705:R3hdm1 UTSW 1 128235084 missense probably damaging 1.00
R1991:R3hdm1 UTSW 1 128169016 missense probably damaging 0.99
R2140:R3hdm1 UTSW 1 128190693 missense probably damaging 0.99
R2437:R3hdm1 UTSW 1 128186836 missense probably damaging 0.98
R2447:R3hdm1 UTSW 1 128186929 intron probably benign
R4564:R3hdm1 UTSW 1 128221659 missense probably benign 0.16
R4640:R3hdm1 UTSW 1 128175238 splice site probably benign
R4649:R3hdm1 UTSW 1 128184444 missense probably damaging 1.00
R4650:R3hdm1 UTSW 1 128184444 missense probably damaging 1.00
R4652:R3hdm1 UTSW 1 128184444 missense probably damaging 1.00
R4653:R3hdm1 UTSW 1 128184444 missense probably damaging 1.00
R4696:R3hdm1 UTSW 1 128236766 utr 3 prime probably benign
R5393:R3hdm1 UTSW 1 128231347 missense probably benign
R5554:R3hdm1 UTSW 1 128236672 missense probably benign 0.27
R5979:R3hdm1 UTSW 1 128211223 missense probably benign 0.04
R6123:R3hdm1 UTSW 1 128169036 missense probably damaging 0.99
R6185:R3hdm1 UTSW 1 128151861 missense possibly damaging 0.93
R6618:R3hdm1 UTSW 1 128193565 missense probably benign 0.00
R6636:R3hdm1 UTSW 1 128162811 frame shift probably null
R6639:R3hdm1 UTSW 1 128162811 frame shift probably null
R6756:R3hdm1 UTSW 1 128162811 frame shift probably null
R7168:R3hdm1 UTSW 1 128216495 missense probably benign 0.05
R7210:R3hdm1 UTSW 1 128211208 missense possibly damaging 0.95
R7367:R3hdm1 UTSW 1 128153392 missense possibly damaging 0.64
R7536:R3hdm1 UTSW 1 128182211 splice site probably null
R7896:R3hdm1 UTSW 1 128168966 splice site probably null
R7979:R3hdm1 UTSW 1 128168966 splice site probably null
X0017:R3hdm1 UTSW 1 128167921 missense possibly damaging 0.92
X0020:R3hdm1 UTSW 1 128169033 missense probably damaging 1.00
Posted On2014-02-04