Incidental Mutation 'R7536:R3hdm1'
ID 585961
Institutional Source Beutler Lab
Gene Symbol R3hdm1
Ensembl Gene ENSMUSG00000056211
Gene Name R3H domain containing 1
Synonyms
MMRRC Submission 045608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7536 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 128031038-128165473 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 128109948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036288] [ENSMUST00000187023] [ENSMUST00000187900] [ENSMUST00000188381] [ENSMUST00000189317] [ENSMUST00000190056]
AlphaFold E9Q9Q2
Predicted Effect probably null
Transcript: ENSMUST00000036288
SMART Domains Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211

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 probably null
Transcript: ENSMUST00000185853
Predicted Effect probably null
Transcript: ENSMUST00000187023
SMART Domains Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211

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
SMART Domains Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211

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: 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
Predicted Effect probably null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
AI597479 C G 1: 43,150,505 (GRCm39) A205G possibly damaging Het
Akr1c14 T A 13: 4,113,690 (GRCm39) V74E probably damaging Het
Armh4 G T 14: 50,011,703 (GRCm39) probably null Het
Bbs9 A T 9: 22,582,096 (GRCm39) Q596L probably damaging Het
Bub3 A G 7: 131,170,432 (GRCm39) D318G probably damaging Het
Cela1 A G 15: 100,573,245 (GRCm39) V248A probably damaging Het
Cer1 C A 4: 82,803,205 (GRCm39) R39L probably benign Het
Clec16a A G 16: 10,456,708 (GRCm39) T624A possibly damaging Het
Coro1c C A 5: 113,983,350 (GRCm39) G393W probably damaging Het
Crym A G 7: 119,800,331 (GRCm39) L97P probably damaging Het
Cyp2a5 T G 7: 26,539,903 (GRCm39) L317R probably damaging Het
Cyp2j6 C A 4: 96,423,774 (GRCm39) G198V probably damaging Het
Dnajb6 A G 5: 29,962,804 (GRCm39) E238G possibly damaging Het
Dnhd1 C A 7: 105,358,768 (GRCm39) T3419K probably damaging Het
Dpep3 A T 8: 106,704,032 (GRCm39) I262K probably damaging Het
Dscam T G 16: 96,442,226 (GRCm39) probably null Het
Farsb A G 1: 78,420,391 (GRCm39) V500A possibly damaging Het
Fbxl20 A T 11: 97,986,209 (GRCm39) C136* probably null Het
Fbxo43 G T 15: 36,161,997 (GRCm39) D403E probably benign Het
Frem1 A G 4: 82,874,432 (GRCm39) S1397P probably damaging Het
Fut8 A G 12: 77,521,852 (GRCm39) Y497C probably damaging Het
Gbp3 A T 3: 142,272,156 (GRCm39) R219S probably damaging Het
Gm14295 T A 2: 176,502,722 (GRCm39) H737Q possibly damaging Het
Gpr89 C A 3: 96,798,209 (GRCm39) R149L probably damaging Het
Greb1 A T 12: 16,732,186 (GRCm39) Y1592N probably damaging Het
Gria4 A C 9: 4,464,298 (GRCm39) Y555D probably damaging Het
Hspa1b T A 17: 35,177,851 (GRCm39) T45S possibly damaging Het
Kif5b A T 18: 6,216,235 (GRCm39) N571K probably benign Het
Mapkbp1 T A 2: 119,849,066 (GRCm39) M694K probably damaging Het
Med24 G A 11: 98,603,447 (GRCm39) H439Y possibly damaging Het
Mgl2 G T 11: 70,027,833 (GRCm39) R347L probably benign Het
Mms22l T A 4: 24,581,240 (GRCm39) L850Q probably damaging Het
Mrpl51 T C 6: 125,169,530 (GRCm39) V44A possibly damaging Het
Mylk3 T C 8: 86,080,233 (GRCm39) I485V probably benign Het
Or10ag54 C T 2: 87,099,943 (GRCm39) Q273* probably null Het
Or7e174 C A 9: 20,012,826 (GRCm39) T257K probably damaging Het
Pde4dip A G 3: 97,664,560 (GRCm39) L434P probably damaging Het
Pla2g4a T C 1: 149,755,768 (GRCm39) Y223C probably damaging Het
Plcl1 C T 1: 55,752,640 (GRCm39) Q995* probably null Het
Pls1 C T 9: 95,644,110 (GRCm39) C462Y probably damaging Het
Ppp6r3 T C 19: 3,557,341 (GRCm39) E249G possibly damaging Het
Prb1a T A 6: 132,184,184 (GRCm39) N483I unknown Het
Rasgrp3 T C 17: 75,821,128 (GRCm39) F445S probably damaging Het
Rnf39 G T 17: 37,254,009 (GRCm39) L10F probably damaging Het
Rnh1 T C 7: 140,740,725 (GRCm39) D410G possibly damaging Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sh3bp2 A G 5: 34,700,901 (GRCm39) T35A probably benign Het
Skint6 T A 4: 112,668,744 (GRCm39) probably null Het
Slc13a1 A T 6: 24,100,330 (GRCm39) D384E probably damaging Het
Slc27a6 A G 18: 58,689,698 (GRCm39) T55A probably damaging Het
Slc46a2 G A 4: 59,914,141 (GRCm39) Q261* probably null Het
Spata31d1e C T 13: 59,889,556 (GRCm39) V755M probably damaging Het
St7 C G 6: 17,886,019 (GRCm39) P327R probably damaging Het
Stx1a T C 5: 135,078,694 (GRCm39) I268T probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmem144 A T 3: 79,734,964 (GRCm39) N151K probably benign Het
Tmem145 T C 7: 25,007,294 (GRCm39) S171P probably damaging Het
Traf2 A G 2: 25,427,118 (GRCm39) Y78H possibly damaging Het
Tsc22d1 A G 14: 76,742,203 (GRCm39) Y16C probably benign Het
Ttc39b A T 4: 83,158,215 (GRCm39) Y503* probably null Het
Ttn T C 2: 76,547,681 (GRCm39) D32163G probably benign Het
Uba6 A T 5: 86,272,191 (GRCm39) S833T probably benign Het
Wdtc1 A G 4: 133,022,561 (GRCm39) L595P 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
R0701: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
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'- CTTCAGGCCGATCGACAAAC -3'
(R):5'- AGAAATGAGCCAGTGAGCTATC -3'

Sequencing Primer
(F):5'- GCCATCAGAGCAGCACTG -3'
(R):5'- GCAACAGACAAAGAGATTTATTTCC -3'
Posted On 2019-10-18