Incidental Mutation 'R7431:R3hdm2'
ID 576485
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 045509-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R7431 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127216201-127335253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127294016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 170 (M170K)
Ref Sequence ENSEMBL: ENSMUSP00000069724 (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: M170K

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: M170K

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: M170K

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: M170K

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: M170K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: M170K

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 possibly damaging
Transcript: ENSMUST00000105250
AA Change: M170K

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: M170K

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 possibly damaging
Transcript: ENSMUST00000105251
AA Change: M170K

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: M170K

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: ENSMUST00000164161
SMART Domains Protein: ENSMUSP00000126185
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164831
AA Change: M170K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: M170K

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
SMART Domains Protein: ENSMUSP00000133118
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
Pfam:SUZ 17 64 1.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166820
AA Change: M170K

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: M170K

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
SMART Domains Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404

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 possibly damaging
Transcript: ENSMUST00000170336
AA Change: M170K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: M170K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (77/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 CA C 11: 110,018,252 (GRCm39) probably null Het
Abcf3 G T 16: 20,377,539 (GRCm39) R510L probably benign Het
Abcg4 T A 9: 44,185,997 (GRCm39) I625F possibly damaging Het
Adam22 A T 5: 8,142,818 (GRCm39) S806T probably damaging Het
Adcy4 T C 14: 56,010,129 (GRCm39) I718V probably benign Het
Adgb A T 10: 10,267,699 (GRCm39) probably null Het
Aldoart1 T A 4: 72,769,678 (GRCm39) K377* probably null Het
Apc2 T A 10: 80,138,017 (GRCm39) V100E possibly damaging Het
Asxl3 T G 18: 22,650,010 (GRCm39) D666E probably damaging Het
Atg4c A T 4: 99,109,632 (GRCm39) I200F possibly damaging Het
Atp1a4 A G 1: 172,078,474 (GRCm39) F255L probably benign Het
Bod1l A C 5: 41,970,463 (GRCm39) probably null Het
Cacna2d4 A T 6: 119,221,237 (GRCm39) T250S probably damaging Het
Ccdc202 A G 14: 96,119,273 (GRCm39) H10R probably benign Het
Ccng1 G A 11: 40,644,745 (GRCm39) R51W possibly damaging Het
Chd6 T C 2: 160,868,248 (GRCm39) E366G possibly damaging Het
Clca4b A T 3: 144,616,894 (GRCm39) S919T probably benign Het
Col5a3 T C 9: 20,682,131 (GRCm39) *1740W probably null Het
Col6a5 A T 9: 105,805,468 (GRCm39) I1146K unknown Het
Cpxm1 T C 2: 130,235,966 (GRCm39) T399A probably benign Het
Cpz T C 5: 35,668,486 (GRCm39) T375A probably benign Het
Cyp2b13 T A 7: 25,760,976 (GRCm39) V11D probably damaging Het
Cyp39a1 A G 17: 43,993,906 (GRCm39) T189A probably benign Het
Desi2 C T 1: 178,084,007 (GRCm39) Q52* probably null Het
Dhx15 A G 5: 52,319,953 (GRCm39) V418A probably damaging Het
Dnah3 T A 7: 119,650,967 (GRCm39) M978L probably damaging Het
Dpagt1 T A 9: 44,237,384 (GRCm39) C17* probably null Het
Dph5 A T 3: 115,686,381 (GRCm39) K52N possibly damaging Het
Dpp4 G T 2: 62,182,582 (GRCm39) N566K probably benign Het
Elavl4 T C 4: 110,083,830 (GRCm39) Y94C probably damaging Het
Fat2 G A 11: 55,199,927 (GRCm39) T1049I probably damaging Het
Fat4 T A 3: 39,063,306 (GRCm39) Y4421N possibly damaging Het
Fcrl2 C A 3: 87,166,233 (GRCm39) A181S probably damaging Het
Garre1 T C 7: 33,984,219 (GRCm39) I135V possibly damaging Het
Glg1 G T 8: 111,887,386 (GRCm39) N456K unknown Het
Gm10228 A G 16: 88,838,101 (GRCm39) S68P unknown Het
Golga4 G A 9: 118,388,799 (GRCm39) E1974K probably damaging Het
Heatr9 G T 11: 83,410,094 (GRCm39) P49Q probably damaging Het
Hmgxb3 A T 18: 61,280,517 (GRCm39) V662D probably damaging Het
Hs3st4 T C 7: 123,582,513 (GRCm39) L37P probably damaging Het
Ifi205 A T 1: 173,855,943 (GRCm39) M29K probably benign Het
Igkv1-35 C T 6: 69,987,988 (GRCm39) V103M probably damaging Het
Klf13 T A 7: 63,541,504 (GRCm39) K208* probably null Het
Klhl36 A G 8: 120,597,121 (GRCm39) N274S probably benign Het
Mosmo T A 7: 120,329,873 (GRCm39) L165I probably benign Het
Mtcl1 G A 17: 66,649,901 (GRCm39) Q1855* probably null Het
Muc16 A G 9: 18,519,289 (GRCm39) V208A Het
Nin T G 12: 70,124,997 (GRCm39) R108S Het
Odad1 T G 7: 45,578,670 (GRCm39) L81R probably damaging Het
Or13c7d T C 4: 43,770,882 (GRCm39) N43S probably damaging Het
Polr1a G A 6: 71,903,643 (GRCm39) V319I probably benign Het
Pramel7 A G 2: 87,320,282 (GRCm39) V337A possibly damaging Het
Prkar2b A T 12: 32,013,150 (GRCm39) probably null Het
Rbm26 A G 14: 105,354,528 (GRCm39) I919T possibly damaging Het
Rimkla A G 4: 119,335,008 (GRCm39) M125T probably benign Het
Sag T A 1: 87,749,059 (GRCm39) F153I possibly damaging Het
Sbf2 G T 7: 109,950,957 (GRCm39) D1163E probably damaging Het
Scgb2b24 T C 7: 33,438,674 (GRCm39) I13V probably benign Het
Scin G A 12: 40,183,921 (GRCm39) H63Y probably damaging Het
Sele A G 1: 163,879,189 (GRCm39) T275A probably damaging Het
Slc22a15 T A 3: 101,805,256 (GRCm39) T144S probably benign Het
Slc8a1 T A 17: 81,749,092 (GRCm39) K650I probably benign Het
Slc9c1 G T 16: 45,413,847 (GRCm39) V992F probably damaging Het
Spag16 A T 1: 69,963,031 (GRCm39) T393S unknown Het
Taf15 G A 11: 83,395,779 (GRCm39) D495N unknown Het
Tas2r144 T A 6: 42,192,908 (GRCm39) I216N probably damaging Het
Tbccd1 G T 16: 22,644,563 (GRCm39) P271Q probably benign Het
Tcf4 C A 18: 69,480,249 (GRCm39) probably null Het
Thap4 A T 1: 93,678,223 (GRCm39) S188T probably benign Het
Trank1 T C 9: 111,191,470 (GRCm39) V493A probably benign Het
Trip11 A G 12: 101,850,278 (GRCm39) V1262A possibly damaging Het
Tspan2 T A 3: 102,657,107 (GRCm39) W35R probably damaging Het
Usp39 G T 6: 72,313,251 (GRCm39) T313N possibly damaging Het
Vmn2r83 T A 10: 79,327,306 (GRCm39) L638Q probably damaging Het
Vps29 T C 5: 122,492,541 (GRCm39) V2A probably benign Het
Wrap53 A G 11: 69,469,313 (GRCm39) F148L possibly damaging Het
Znfx1 T C 2: 166,897,712 (GRCm39) Y404C probably damaging Het
Zrsr2-ps1 A G 11: 22,923,580 (GRCm39) E118G probably benign 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
R3735:R3hdm2 UTSW 10 127,300,879 (GRCm39) missense probably benign
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
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'- GTAATGCTTACGTGCTCACTGG -3'
(R):5'- ACCCATCTGAATGTTGTCAGC -3'

Sequencing Primer
(F):5'- CTCACTGGTTAAAGTTCTACAGGAGC -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
Posted On 2019-10-07