Incidental Mutation 'R0701:R3hdm1'
ID 62990
Institutional Source Beutler Lab
Gene Symbol R3hdm1
Ensembl Gene ENSMUSG00000056211
Gene Name R3H domain containing 1
Synonyms
MMRRC Submission 038884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0701 (G1)
Quality Score 97
Status Not validated
Chromosome 1
Chromosomal Location 128031038-128165473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128109476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 309 (Y309C)
Ref Sequence ENSEMBL: ENSMUSP00000141142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036288] [ENSMUST00000187023] [ENSMUST00000187900] [ENSMUST00000190056] [ENSMUST00000190056] [ENSMUST00000188381] [ENSMUST00000189317]
AlphaFold E9Q9Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000036288
AA Change: Y309C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: Y309C

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 unknown
Transcript: ENSMUST00000185853
AA Change: Y21C
Predicted Effect probably benign
Transcript: ENSMUST00000187023
AA Change: Y253C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211
AA Change: Y253C

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 noncoding transcript
Transcript: ENSMUST00000187605
Predicted Effect probably damaging
Transcript: ENSMUST00000187900
AA Change: Y309C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
AA Change: Y309C

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 benign
Transcript: ENSMUST00000190056
SMART Domains Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211

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 probably benign
Transcript: ENSMUST00000190056
SMART Domains Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191274
Predicted Effect probably benign
Transcript: ENSMUST00000188381
SMART Domains Protein: ENSMUSP00000140538
Gene: ENSMUSG00000056211

DomainStartEndE-ValueType
coiled coil region 9 31 N/A INTRINSIC
R3H 107 184 3.18e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189317
SMART Domains Protein: ENSMUSP00000140175
Gene: ENSMUSG00000056211

DomainStartEndE-ValueType
coiled coil region 9 31 N/A INTRINSIC
low complexity region 72 85 N/A INTRINSIC
R3H 137 214 1.9e-24 SMART
Pfam:SUZ 235 287 2e-11 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,571,995 (GRCm39) V261A probably benign Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Bach1 G A 16: 87,516,877 (GRCm39) E473K probably damaging Het
Bsph1 G T 7: 13,206,181 (GRCm39) C72F probably damaging Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
C9 A C 15: 6,496,902 (GRCm39) T200P probably damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Copg1 T A 6: 87,871,089 (GRCm39) Y268* probably null Het
Csad A G 15: 102,087,571 (GRCm39) S331P probably benign Het
Ddx31 G T 2: 28,748,789 (GRCm39) R239L probably null Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Fig4 T A 10: 41,116,508 (GRCm39) R628* probably null Het
Fmnl3 T C 15: 99,219,188 (GRCm39) N778S probably damaging Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Haus3 G A 5: 34,323,359 (GRCm39) T417M probably benign Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Hoxb3 C A 11: 96,237,074 (GRCm39) S384* probably null Het
Ifnar2 A G 16: 91,201,117 (GRCm39) T453A possibly damaging Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Lrriq1 A T 10: 103,069,905 (GRCm39) V37E probably benign Het
Lrrn4 G A 2: 132,712,080 (GRCm39) T581M probably benign Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Mdn1 T A 4: 32,699,263 (GRCm39) D1313E probably benign Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Mlh3 A T 12: 85,314,677 (GRCm39) I503K probably benign Het
Nckap5 A G 1: 125,953,094 (GRCm39) F1089L probably benign Het
Or1e35 A T 11: 73,797,655 (GRCm39) I221N probably damaging Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Pdgfd A T 9: 6,359,706 (GRCm39) D259V probably damaging Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
Rab27b A T 18: 70,118,270 (GRCm39) C216S probably damaging Het
Robo2 A G 16: 73,843,762 (GRCm39) I151T probably damaging Het
Sh2d4a A G 8: 68,783,747 (GRCm39) D227G probably damaging Het
Sis G T 3: 72,848,378 (GRCm39) T632K probably damaging Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Stap1 T C 5: 86,242,667 (GRCm39) probably null Het
Syt16 G A 12: 74,281,886 (GRCm39) V337I probably benign Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Ttn A G 2: 76,728,412 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp6nl A G 2: 6,419,829 (GRCm39) E144G possibly damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zap70 G A 1: 36,820,258 (GRCm39) R513Q probably damaging Het
Other mutations in R3hdm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:R3hdm1 APN 1 128,164,176 (GRCm39) missense probably damaging 1.00
IGL00799:R3hdm1 APN 1 128,102,700 (GRCm39) missense probably damaging 1.00
IGL00835:R3hdm1 APN 1 128,163,369 (GRCm39) splice site probably benign
IGL00885:R3hdm1 APN 1 128,164,175 (GRCm39) missense probably damaging 0.99
IGL00990:R3hdm1 APN 1 128,089,933 (GRCm39) intron probably benign
IGL01137:R3hdm1 APN 1 128,109,612 (GRCm39) missense probably damaging 1.00
IGL01323:R3hdm1 APN 1 128,144,280 (GRCm39) missense probably benign
IGL01461:R3hdm1 APN 1 128,106,643 (GRCm39) missense probably damaging 1.00
IGL01565:R3hdm1 APN 1 128,114,553 (GRCm39) missense probably damaging 1.00
IGL01813:R3hdm1 APN 1 128,102,970 (GRCm39) critical splice donor site probably null
IGL01837:R3hdm1 APN 1 128,114,497 (GRCm39) nonsense probably null
IGL01934:R3hdm1 APN 1 128,164,272 (GRCm39) missense probably benign 0.12
IGL02074:R3hdm1 APN 1 128,096,775 (GRCm39) missense possibly damaging 0.48
IGL02532:R3hdm1 APN 1 128,124,836 (GRCm39) critical splice donor site probably null
IGL02606:R3hdm1 APN 1 128,118,456 (GRCm39) missense probably benign 0.00
IGL02851:R3hdm1 APN 1 128,102,677 (GRCm39) splice site probably benign
driven UTSW 1 128,121,302 (GRCm39) missense probably benign 0.00
R0023:R3hdm1 UTSW 1 128,138,929 (GRCm39) splice site probably benign
R0280:R3hdm1 UTSW 1 128,090,512 (GRCm39) missense probably benign 0.00
R0482:R3hdm1 UTSW 1 128,112,254 (GRCm39) missense probably benign 0.12
R0521:R3hdm1 UTSW 1 128,121,440 (GRCm39) missense probably benign 0.07
R0578:R3hdm1 UTSW 1 128,159,174 (GRCm39) nonsense probably null
R0698:R3hdm1 UTSW 1 128,109,476 (GRCm39) missense probably damaging 1.00
R0961:R3hdm1 UTSW 1 128,121,333 (GRCm39) missense probably benign 0.13
R1026:R3hdm1 UTSW 1 128,124,742 (GRCm39) missense probably damaging 1.00
R1141:R3hdm1 UTSW 1 128,159,142 (GRCm39) missense probably benign 0.01
R1319:R3hdm1 UTSW 1 128,159,142 (GRCm39) missense probably benign 0.01
R1320:R3hdm1 UTSW 1 128,159,142 (GRCm39) missense probably benign 0.01
R1511:R3hdm1 UTSW 1 128,124,742 (GRCm39) missense probably damaging 1.00
R1705:R3hdm1 UTSW 1 128,162,821 (GRCm39) missense probably damaging 1.00
R1991:R3hdm1 UTSW 1 128,096,753 (GRCm39) missense probably damaging 0.99
R2140:R3hdm1 UTSW 1 128,118,430 (GRCm39) missense probably damaging 0.99
R2437:R3hdm1 UTSW 1 128,114,573 (GRCm39) missense probably damaging 0.98
R2447:R3hdm1 UTSW 1 128,114,666 (GRCm39) intron probably benign
R4564:R3hdm1 UTSW 1 128,149,396 (GRCm39) missense probably benign 0.16
R4640:R3hdm1 UTSW 1 128,102,975 (GRCm39) splice site probably benign
R4649:R3hdm1 UTSW 1 128,112,181 (GRCm39) missense probably damaging 1.00
R4650:R3hdm1 UTSW 1 128,112,181 (GRCm39) missense probably damaging 1.00
R4652:R3hdm1 UTSW 1 128,112,181 (GRCm39) missense probably damaging 1.00
R4653:R3hdm1 UTSW 1 128,112,181 (GRCm39) missense probably damaging 1.00
R4696:R3hdm1 UTSW 1 128,164,503 (GRCm39) utr 3 prime probably benign
R5393:R3hdm1 UTSW 1 128,159,084 (GRCm39) missense probably benign
R5554:R3hdm1 UTSW 1 128,164,409 (GRCm39) missense probably benign 0.27
R5979:R3hdm1 UTSW 1 128,138,960 (GRCm39) missense probably benign 0.04
R6123:R3hdm1 UTSW 1 128,096,773 (GRCm39) missense probably damaging 0.99
R6185:R3hdm1 UTSW 1 128,079,598 (GRCm39) missense possibly damaging 0.93
R6618:R3hdm1 UTSW 1 128,121,302 (GRCm39) missense probably benign 0.00
R6636:R3hdm1 UTSW 1 128,090,548 (GRCm39) frame shift probably null
R6639:R3hdm1 UTSW 1 128,090,548 (GRCm39) frame shift probably null
R6756:R3hdm1 UTSW 1 128,090,548 (GRCm39) frame shift probably null
R7168:R3hdm1 UTSW 1 128,144,232 (GRCm39) missense probably benign 0.05
R7210:R3hdm1 UTSW 1 128,138,945 (GRCm39) missense possibly damaging 0.95
R7367:R3hdm1 UTSW 1 128,081,129 (GRCm39) missense possibly damaging 0.64
R7536:R3hdm1 UTSW 1 128,109,948 (GRCm39) splice site probably null
R7896:R3hdm1 UTSW 1 128,096,703 (GRCm39) splice site probably null
R8391:R3hdm1 UTSW 1 128,121,215 (GRCm39) missense
R8486:R3hdm1 UTSW 1 128,106,657 (GRCm39) missense probably benign 0.11
R8490:R3hdm1 UTSW 1 128,162,864 (GRCm39) missense probably benign 0.26
R8947:R3hdm1 UTSW 1 128,102,694 (GRCm39) missense possibly damaging 0.60
R8990:R3hdm1 UTSW 1 128,106,833 (GRCm39) missense probably damaging 1.00
R9141:R3hdm1 UTSW 1 128,164,212 (GRCm39) missense probably damaging 1.00
R9195:R3hdm1 UTSW 1 128,089,975 (GRCm39) missense probably benign 0.28
R9426:R3hdm1 UTSW 1 128,164,212 (GRCm39) missense probably damaging 1.00
R9469:R3hdm1 UTSW 1 128,106,921 (GRCm39) critical splice donor site probably null
X0017:R3hdm1 UTSW 1 128,095,658 (GRCm39) missense possibly damaging 0.92
X0020:R3hdm1 UTSW 1 128,096,770 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTTCAGCAGCTAAGCCATC -3'
(R):5'- CTCTTGTCAGGACTGAGATTCCGC -3'

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