Incidental Mutation 'R3735:R3hdm2'
ID 270083
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 040722-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R3735 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127216201-127335253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127300879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 280 (I280N)
Ref Sequence ENSEMBL: ENSMUSP00000128659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000165440] [ENSMUST00000166820] [ENSMUST00000169888] [ENSMUST00000170336]
AlphaFold Q80TM6
Predicted Effect probably benign
Transcript: ENSMUST00000064793
AA Change: I280N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: I280N

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
low complexity region 306 318 N/A INTRINSIC
low complexity region 398 429 N/A INTRINSIC
low complexity region 442 457 N/A INTRINSIC
low complexity region 699 730 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077046
AA Change: I312N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: I312N

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 7.4e-14 PFAM
low complexity region 338 350 N/A INTRINSIC
low complexity region 430 461 N/A INTRINSIC
low complexity region 474 499 N/A INTRINSIC
low complexity region 744 775 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105249
AA Change: I312N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: I312N

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 5.4e-12 PFAM
low complexity region 320 332 N/A INTRINSIC
low complexity region 412 443 N/A INTRINSIC
low complexity region 692 723 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105250
AA Change: I312N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: I312N

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 5.6e-12 PFAM
low complexity region 320 332 N/A INTRINSIC
low complexity region 412 443 N/A INTRINSIC
low complexity region 456 481 N/A INTRINSIC
low complexity region 726 757 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105251
AA Change: I312N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: I312N

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 5.6e-12 PFAM
low complexity region 320 332 N/A INTRINSIC
low complexity region 412 443 N/A INTRINSIC
low complexity region 456 481 N/A INTRINSIC
low complexity region 726 757 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163794
Predicted Effect probably benign
Transcript: ENSMUST00000164161
SMART Domains Protein: ENSMUSP00000126185
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171823
Predicted Effect probably benign
Transcript: ENSMUST00000164831
AA Change: I280N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: I280N

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
low complexity region 306 318 N/A INTRINSIC
low complexity region 398 429 N/A INTRINSIC
low complexity region 678 709 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165440
AA Change: I73N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133118
Gene: ENSMUSG00000025404
AA Change: I73N

DomainStartEndE-ValueType
Pfam:SUZ 17 64 1.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166820
AA Change: I312N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: I312N

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 5.7e-12 PFAM
low complexity region 338 350 N/A INTRINSIC
low complexity region 430 461 N/A INTRINSIC
low complexity region 474 499 N/A INTRINSIC
low complexity region 744 775 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169888
AA Change: I63N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
AA Change: I63N

DomainStartEndE-ValueType
Pfam:SUZ 7 54 4.7e-12 PFAM
low complexity region 71 83 N/A INTRINSIC
low complexity region 163 194 N/A INTRINSIC
low complexity region 443 474 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170336
AA Change: I280N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: I280N

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
low complexity region 306 318 N/A INTRINSIC
low complexity region 398 429 N/A INTRINSIC
low complexity region 442 467 N/A INTRINSIC
low complexity region 712 743 N/A INTRINSIC
Meta Mutation Damage Score 0.0656 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C G 4: 103,123,603 (GRCm39) E90Q probably damaging Het
Acadl G A 1: 66,892,448 (GRCm39) A125V probably benign Het
Acot12 T A 13: 91,932,465 (GRCm39) I487N probably benign Het
Acox3 A G 5: 35,768,497 (GRCm39) K686R probably benign Het
Adam17 T C 12: 21,375,413 (GRCm39) D802G probably benign Het
Aoc3 A T 11: 101,223,045 (GRCm39) D427V probably damaging Het
Bivm C T 1: 44,165,594 (GRCm39) H15Y probably benign Het
C8a T C 4: 104,674,812 (GRCm39) E509G probably benign Het
Ccdc158 A C 5: 92,780,283 (GRCm39) L930R possibly damaging Het
Cdca7 T A 2: 72,314,209 (GRCm39) probably null Het
Cep170b A T 12: 112,707,438 (GRCm39) I395F probably damaging Het
Champ1 T C 8: 13,928,735 (GRCm39) S298P probably damaging Het
Cimip2c A T 5: 30,639,442 (GRCm39) Y123F probably benign Het
Cyp2j8 T A 4: 96,332,836 (GRCm39) R503S probably damaging Het
Dcaf10 C T 4: 45,348,117 (GRCm39) T191I probably benign Het
Dido1 A G 2: 180,325,829 (GRCm39) probably benign Het
Dnah7b C T 1: 46,339,035 (GRCm39) T3361I probably benign Het
Dync1h1 G A 12: 110,598,109 (GRCm39) V1767I probably benign Het
Eml5 G A 12: 98,822,248 (GRCm39) T721I possibly damaging Het
F8 G A X: 74,254,981 (GRCm39) P2138S probably damaging Het
Fam169b G T 7: 68,000,049 (GRCm39) R198S probably damaging Het
Gm7694 A G 1: 170,130,330 (GRCm39) S23P probably damaging Het
Grk3 T A 5: 113,101,697 (GRCm39) T248S probably benign Het
Helq T G 5: 100,938,054 (GRCm39) D464A possibly damaging Het
Ido2 C T 8: 25,025,209 (GRCm39) V273M probably damaging Het
Il12rb1 T C 8: 71,269,862 (GRCm39) L518P probably damaging Het
Irag2 G A 6: 145,106,596 (GRCm39) probably benign Het
Kansl1l A G 1: 66,840,409 (GRCm39) V297A possibly damaging Het
Kcnj10 A G 1: 172,197,533 (GRCm39) Y349C possibly damaging Het
Krt18 A G 15: 101,936,936 (GRCm39) T75A probably benign Het
Lrp4 A T 2: 91,328,716 (GRCm39) I1539F probably damaging Het
Map3k6 T C 4: 132,973,683 (GRCm39) V458A probably benign Het
Med12l T A 3: 58,998,916 (GRCm39) H614Q probably damaging Het
Med13 A C 11: 86,170,484 (GRCm39) M1850R probably benign Het
Mfsd13a A G 19: 46,356,767 (GRCm39) Y256C probably damaging Het
Mogs C A 6: 83,093,757 (GRCm39) T242K possibly damaging Het
Myo9b T C 8: 71,801,241 (GRCm39) V1133A probably benign Het
Myom2 A T 8: 15,119,676 (GRCm39) H144L probably benign Het
Ncapg A T 5: 45,853,469 (GRCm39) Q906L probably benign Het
Nkx1-1 C T 5: 33,591,074 (GRCm39) V83I unknown Het
Npy4r T A 14: 33,869,226 (GRCm39) T21S probably benign Het
Nup88 A G 11: 70,847,018 (GRCm39) S331P probably damaging Het
Olr1 T A 6: 129,476,838 (GRCm39) probably benign Het
Or4k44 T A 2: 111,368,241 (GRCm39) H131L probably damaging Het
Osmr A T 15: 6,851,561 (GRCm39) Y656N probably damaging Het
Otogl A T 10: 107,735,390 (GRCm39) Y131* probably null Het
Pgr G A 9: 8,901,534 (GRCm39) G356S probably damaging Het
Prdm2 T C 4: 142,860,929 (GRCm39) E787G probably damaging Het
Prpf18 A G 2: 4,648,484 (GRCm39) I114T probably benign Het
Rims4 T C 2: 163,705,905 (GRCm39) D243G possibly damaging Het
Rmnd5a T C 6: 71,373,846 (GRCm39) D316G possibly damaging Het
Rpap2 T C 5: 107,803,017 (GRCm39) probably benign Het
Sdr16c5 G A 4: 4,005,614 (GRCm39) T240I probably benign Het
Shroom3 T C 5: 93,112,303 (GRCm39) V1888A possibly damaging Het
Slc36a4 T A 9: 15,649,569 (GRCm39) Y466* probably null Het
Slco3a1 A G 7: 74,154,245 (GRCm39) I80T probably damaging Het
Sptlc2 G A 12: 87,388,339 (GRCm39) A381V probably benign Het
Stam A T 2: 14,133,823 (GRCm39) Q190L probably damaging Het
Suclg2 T A 6: 95,474,677 (GRCm39) I363F probably damaging Het
Tacstd2 A G 6: 67,511,843 (GRCm39) V283A probably damaging Het
Tln1 G T 4: 43,549,370 (GRCm39) A616E probably damaging Het
Trdmt1 A T 2: 13,524,684 (GRCm39) F257Y possibly damaging Het
Trip12 TATACATACATACATACATACATACATACATAC TATACATACATACATACATACATACATACATACATAC 1: 84,792,511 (GRCm39) probably null Het
Trps1 A G 15: 50,709,456 (GRCm39) I298T possibly damaging Het
Tti2 T C 8: 31,645,925 (GRCm39) L413P probably damaging Het
Utrn A G 10: 12,354,228 (GRCm39) V343A probably damaging Het
Vwf G T 6: 125,565,576 (GRCm39) W288L probably damaging Het
Zfp629 T A 7: 127,211,950 (GRCm39) probably benign Het
Zfp873 G A 10: 81,897,015 (GRCm39) S582N probably benign Het
Zfp979 A G 4: 147,697,939 (GRCm39) Y257H possibly damaging Het
Zfpm1 G A 8: 123,050,475 (GRCm39) C117Y possibly damaging Het
Other mutations in R3hdm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:R3hdm2 APN 10 127,294,719 (GRCm39) missense probably damaging 1.00
IGL02114:R3hdm2 APN 10 127,319,978 (GRCm39) missense probably damaging 0.99
IGL02116:R3hdm2 APN 10 127,334,421 (GRCm39) missense probably damaging 1.00
IGL02549:R3hdm2 APN 10 127,320,094 (GRCm39) splice site probably benign
IGL02647:R3hdm2 APN 10 127,295,353 (GRCm39) missense probably damaging 1.00
IGL02696:R3hdm2 APN 10 127,300,888 (GRCm39) splice site probably null
IGL02732:R3hdm2 APN 10 127,319,929 (GRCm39) missense probably benign 0.43
R0131:R3hdm2 UTSW 10 127,334,322 (GRCm39) missense probably damaging 1.00
R0131:R3hdm2 UTSW 10 127,334,322 (GRCm39) missense probably damaging 1.00
R0132:R3hdm2 UTSW 10 127,334,322 (GRCm39) missense probably damaging 1.00
R0157:R3hdm2 UTSW 10 127,307,858 (GRCm39) missense probably damaging 0.99
R0179:R3hdm2 UTSW 10 127,330,975 (GRCm39) missense probably damaging 1.00
R0196:R3hdm2 UTSW 10 127,320,390 (GRCm39) missense probably damaging 1.00
R0401:R3hdm2 UTSW 10 127,294,042 (GRCm39) missense possibly damaging 0.90
R0505:R3hdm2 UTSW 10 127,293,569 (GRCm39) missense probably damaging 1.00
R0606:R3hdm2 UTSW 10 127,280,313 (GRCm39) missense probably damaging 1.00
R1188:R3hdm2 UTSW 10 127,288,624 (GRCm39) missense probably benign 0.02
R1466:R3hdm2 UTSW 10 127,312,559 (GRCm39) missense probably benign 0.01
R1466:R3hdm2 UTSW 10 127,312,559 (GRCm39) missense probably benign 0.01
R1503:R3hdm2 UTSW 10 127,307,695 (GRCm39) nonsense probably null
R1584:R3hdm2 UTSW 10 127,312,559 (GRCm39) missense probably benign 0.01
R1652:R3hdm2 UTSW 10 127,330,960 (GRCm39) missense probably benign 0.00
R1901:R3hdm2 UTSW 10 127,334,337 (GRCm39) missense possibly damaging 0.91
R5261:R3hdm2 UTSW 10 127,334,285 (GRCm39) missense probably damaging 1.00
R5329:R3hdm2 UTSW 10 127,294,762 (GRCm39) missense probably damaging 1.00
R5379:R3hdm2 UTSW 10 127,307,771 (GRCm39) missense probably damaging 1.00
R5380:R3hdm2 UTSW 10 127,321,316 (GRCm39) missense probably damaging 1.00
R5387:R3hdm2 UTSW 10 127,321,303 (GRCm39) missense probably damaging 1.00
R5558:R3hdm2 UTSW 10 127,280,271 (GRCm39) missense probably damaging 1.00
R5773:R3hdm2 UTSW 10 127,280,172 (GRCm39) utr 5 prime probably benign
R5936:R3hdm2 UTSW 10 127,307,681 (GRCm39) missense probably damaging 1.00
R6024:R3hdm2 UTSW 10 127,295,349 (GRCm39) missense probably damaging 1.00
R6160:R3hdm2 UTSW 10 127,320,376 (GRCm39) missense probably damaging 1.00
R6191:R3hdm2 UTSW 10 127,320,384 (GRCm39) missense probably damaging 1.00
R7058:R3hdm2 UTSW 10 127,320,382 (GRCm39) missense probably damaging 1.00
R7224:R3hdm2 UTSW 10 127,294,022 (GRCm39) missense probably damaging 1.00
R7253:R3hdm2 UTSW 10 127,317,644 (GRCm39) missense probably damaging 1.00
R7305:R3hdm2 UTSW 10 127,312,547 (GRCm39) missense probably benign 0.08
R7349:R3hdm2 UTSW 10 127,328,515 (GRCm39) missense probably benign
R7431:R3hdm2 UTSW 10 127,294,016 (GRCm39) missense probably benign 0.16
R7891:R3hdm2 UTSW 10 127,334,443 (GRCm39) missense probably benign 0.07
R8477:R3hdm2 UTSW 10 127,320,029 (GRCm39) missense probably damaging 1.00
R8503:R3hdm2 UTSW 10 127,328,481 (GRCm39) missense possibly damaging 0.95
R8782:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8783:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8784:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8787:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8789:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8790:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R9041:R3hdm2 UTSW 10 127,320,405 (GRCm39) missense probably damaging 1.00
R9198:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R9200:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R9202:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R9706:R3hdm2 UTSW 10 127,334,298 (GRCm39) missense probably benign 0.01
R9760:R3hdm2 UTSW 10 127,280,182 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGACAGGTGAGAAACTGGTC -3'
(R):5'- TGGAGCAAACTCACTCACTC -3'

Sequencing Primer
(F):5'- AACTGGTCTGGGGTAAGGC -3'
(R):5'- CAGGTACCTAAAAATCTGCCTTCTC -3'
Posted On 2015-03-18