Incidental Mutation 'R6024:R3hdm2'
ID 479099
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 044196-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R6024 (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 127295349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 239 (F239I)
Ref Sequence ENSEMBL: ENSMUSP00000131007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000165440] [ENSMUST00000166820] [ENSMUST00000170336] [ENSMUST00000169888]
AlphaFold Q80TM6
Predicted Effect possibly damaging
Transcript: ENSMUST00000064793
AA Change: F239I

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: F239I

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 possibly damaging
Transcript: ENSMUST00000077046
AA Change: F239I

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: F239I

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 possibly damaging
Transcript: ENSMUST00000105249
AA Change: F239I

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: F239I

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: F239I

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: F239I

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: F239I

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: F239I

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 probably damaging
Transcript: ENSMUST00000164831
AA Change: F239I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: F239I

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 damaging
Transcript: ENSMUST00000165440
AA Change: F6I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133118
Gene: ENSMUSG00000025404
AA Change: F6I

DomainStartEndE-ValueType
Pfam:SUZ 17 64 1.4e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166820
AA Change: F239I

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: F239I

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 damaging
Transcript: ENSMUST00000170336
AA Change: F239I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: F239I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171823
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
Meta Mutation Damage Score 0.1561 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,624,624 (GRCm39) F3782L probably benign Het
Akr1d1 T C 6: 37,535,417 (GRCm39) I267T probably benign Het
Aoc1l1 A T 6: 48,953,030 (GRCm39) K318N possibly damaging Het
Arhgef5 T C 6: 43,252,068 (GRCm39) S940P probably benign Het
Art2b A G 7: 101,229,587 (GRCm39) I104T probably benign Het
Avpr1a A G 10: 122,285,053 (GRCm39) Y115C probably damaging Het
Cdc42bpg T A 19: 6,367,526 (GRCm39) L995Q probably damaging Het
Cenatac T C 9: 44,329,249 (GRCm39) T13A possibly damaging Het
Clip1 T C 5: 123,753,152 (GRCm39) K210E possibly damaging Het
Cog4 C T 8: 111,608,112 (GRCm39) T735I probably damaging Het
Creb3l4 G A 3: 90,146,006 (GRCm39) S206L probably damaging Het
Csf3r C A 4: 125,931,310 (GRCm39) probably null Het
Dnah11 G T 12: 117,994,007 (GRCm39) S2346R probably benign Het
Dnai2 A T 11: 114,643,734 (GRCm39) I467F possibly damaging Het
Dpy19l4 A T 4: 11,276,876 (GRCm39) M523K probably damaging Het
Ebf3 T C 7: 136,802,264 (GRCm39) D407G probably damaging Het
Fbn2 A G 18: 58,209,908 (GRCm39) I991T probably benign Het
Gcc1 T C 6: 28,419,299 (GRCm39) T345A probably benign Het
Gm1527 C T 3: 28,974,752 (GRCm39) H522Y probably benign Het
Gm4846 T A 1: 166,317,696 (GRCm39) Y240F probably benign Het
Hmgcl T C 4: 135,682,926 (GRCm39) V126A probably benign Het
Ifit1bl2 G T 19: 34,597,438 (GRCm39) S59R probably benign Het
Itga6 A G 2: 71,617,577 (GRCm39) N32S probably benign Het
Lcor C A 19: 41,572,396 (GRCm39) P384T possibly damaging Het
Macc1 T C 12: 119,414,160 (GRCm39) S779P probably benign Het
Mctp1 G T 13: 76,533,280 (GRCm39) L209F probably damaging Het
Mink1 A G 11: 70,489,915 (GRCm39) N97S possibly damaging Het
Mst1r T A 9: 107,785,350 (GRCm39) V336E probably benign Het
Muc16 A T 9: 18,557,967 (GRCm39) S2775R unknown Het
Muc6 T A 7: 141,227,841 (GRCm39) T1316S possibly damaging Het
Myh11 T A 16: 14,095,567 (GRCm39) N65I probably damaging Het
Myo9a A G 9: 59,762,671 (GRCm39) N801D possibly damaging Het
Nkain2 A T 10: 31,827,281 (GRCm39) M103K probably damaging Het
Nkx2-2 T A 2: 147,025,961 (GRCm39) Y259F probably benign Het
Nrxn1 T C 17: 90,897,526 (GRCm39) M877V possibly damaging Het
Nxf1 C T 19: 8,745,108 (GRCm39) L453F probably damaging Het
Pcnt T C 10: 76,255,871 (GRCm39) S790G possibly damaging Het
Phf3 T C 1: 30,902,307 (GRCm39) D2G probably damaging Het
Phrf1 T C 7: 140,838,898 (GRCm39) probably benign Het
Ptpn3 C A 4: 57,248,653 (GRCm39) probably null Het
Pygl T C 12: 70,243,841 (GRCm39) T625A probably benign Het
Sesn1 A T 10: 41,772,196 (GRCm39) I242F probably damaging Het
Shank2 C T 7: 143,733,768 (GRCm39) T105I probably benign Het
Skint3 T C 4: 112,147,543 (GRCm39) F350S possibly damaging Het
Slco5a1 T C 1: 13,014,294 (GRCm39) Y320C probably damaging Het
Syt11 A G 3: 88,669,416 (GRCm39) S159P probably benign Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tanc2 T C 11: 105,814,498 (GRCm39) S1981P probably damaging Het
Tmem200c A C 17: 69,148,722 (GRCm39) D435A possibly damaging Het
Trappc8 A G 18: 20,966,066 (GRCm39) V1125A probably damaging Het
Ttn A G 2: 76,644,487 (GRCm39) V4762A possibly damaging Het
Unc5d A G 8: 29,365,539 (GRCm39) S149P possibly damaging Het
Usf3 A T 16: 44,040,203 (GRCm39) N1561I probably damaging Het
Wdr4 A T 17: 31,720,272 (GRCm39) probably benign Het
Wdr49 T G 3: 75,209,133 (GRCm39) E612D 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
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'- GTCACACAAAGATTTCACTTGAACC -3'
(R):5'- GAACAGCGCTGTGTAGTTTTC -3'

Sequencing Primer
(F):5'- CAAAGATTTCACTTGAACCTTCATG -3'
(R):5'- AGCGCTGTGTAGTTTTCCATTTTAAG -3'
Posted On 2017-06-26