Incidental Mutation 'R7391:R3hdm4'
ID 573452
Institutional Source Beutler Lab
Gene Symbol R3hdm4
Ensembl Gene ENSMUSG00000035781
Gene Name R3H domain containing 4
Synonyms C030046I01Rik
MMRRC Submission 045473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R7391 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79745886-79752764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79746943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 240 (K240R)
Ref Sequence ENSEMBL: ENSMUSP00000044570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045628] [ENSMUST00000105378] [ENSMUST00000164705] [ENSMUST00000165684] [ENSMUST00000166964] [ENSMUST00000170409] [ENSMUST00000171416] [ENSMUST00000181321] [ENSMUST00000217976] [ENSMUST00000218750] [ENSMUST00000218970] [ENSMUST00000219867]
AlphaFold Q4VBF2
Predicted Effect probably benign
Transcript: ENSMUST00000045628
AA Change: K240R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
AA Change: K240R

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
Pfam:R3H-assoc 43 177 1.2e-35 PFAM
Pfam:R3H 181 244 7.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105378
SMART Domains Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
WD40 94 133 1.05e-7 SMART
Blast:WD40 143 169 4e-8 BLAST
low complexity region 206 217 N/A INTRINSIC
WD40 226 267 1.53e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164705
SMART Domains Protein: ENSMUSP00000129229
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
WD40 10 49 1.05e-7 SMART
Pfam:Med16 59 172 6.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165684
SMART Domains Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
low complexity region 13 25 N/A INTRINSIC
WD40 95 134 1.05e-7 SMART
Blast:WD40 144 170 4e-8 BLAST
low complexity region 207 218 N/A INTRINSIC
WD40 227 268 1.53e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166964
SMART Domains Protein: ENSMUSP00000128463
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
WD40 59 98 1.05e-7 SMART
Pfam:Med16 108 162 2.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170409
SMART Domains Protein: ENSMUSP00000126729
Gene: ENSMUSG00000013833

DomainStartEndE-ValueType
WD40 10 49 1.05e-7 SMART
Pfam:Med16 59 105 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171416
AA Change: K240R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
AA Change: K240R

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
Pfam:R3H-assoc 43 177 4.9e-39 PFAM
Pfam:R3H 183 243 1.1e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000181321
AA Change: F85S
Predicted Effect probably benign
Transcript: ENSMUST00000217976
Predicted Effect probably benign
Transcript: ENSMUST00000218750
Predicted Effect probably benign
Transcript: ENSMUST00000218970
Predicted Effect probably benign
Transcript: ENSMUST00000219867
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 A T 10: 18,522,007 (GRCm39) I673K probably benign Het
Arhgap32 C A 9: 32,093,235 (GRCm39) T196K probably benign Het
Azi2 T A 9: 117,879,960 (GRCm39) probably null Het
B3gnt2 A T 11: 22,786,482 (GRCm39) C235* probably null Het
Capn5 C T 7: 97,780,426 (GRCm39) V315M probably benign Het
Ccl24 T A 5: 135,599,676 (GRCm39) R111S possibly damaging Het
Cdk9 A G 2: 32,602,083 (GRCm39) V45A probably damaging Het
Cep162 G T 9: 87,130,547 (GRCm39) S21* probably null Het
Chil3 T A 3: 106,071,496 (GRCm39) Y56F probably damaging Het
Ctr9 T A 7: 110,642,378 (GRCm39) L368* probably null Het
Ctss A G 3: 95,436,852 (GRCm39) E45G probably benign Het
Cyp2c29 A T 19: 39,296,211 (GRCm39) Q214L probably null Het
Cyp2d34 T A 15: 82,502,587 (GRCm39) N183I probably benign Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Elp1 C A 4: 56,781,211 (GRCm39) Q487H possibly damaging Het
Elp1 T G 4: 56,781,212 (GRCm39) Q487P probably benign Het
Ermp1 C A 19: 29,604,468 (GRCm39) probably null Het
Ermp1 T A 19: 29,604,469 (GRCm39) probably null Het
Evi2 A G 11: 79,406,493 (GRCm39) S361P probably benign Het
Ext2 T A 2: 93,560,612 (GRCm39) K518M probably damaging Het
Fgl1 A C 8: 41,663,483 (GRCm39) M15R probably benign Het
Fsip2 T G 2: 82,820,663 (GRCm39) D5465E possibly damaging Het
Hdlbp A T 1: 93,358,783 (GRCm39) I256N possibly damaging Het
Hmmr G T 11: 40,598,613 (GRCm39) probably null Het
Hnrnpu T C 1: 178,164,643 (GRCm39) Q165R unknown Het
Homer3 G A 8: 70,742,134 (GRCm39) A132T probably benign Het
Ift70a1 T C 2: 75,810,359 (GRCm39) K575E probably benign Het
Kcnb1 T C 2: 166,947,370 (GRCm39) R493G probably damaging Het
Kcnn3 A T 3: 89,516,778 (GRCm39) T396S probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krtap4-1 A G 11: 99,518,810 (GRCm39) S67P unknown Het
Lama4 G T 10: 38,963,383 (GRCm39) probably null Het
Lrrtm2 T A 18: 35,345,818 (GRCm39) I495F possibly damaging Het
Mical2 A T 7: 111,919,816 (GRCm39) E442V probably damaging Het
Muc16 C T 9: 18,550,832 (GRCm39) V5154I probably benign Het
Nav3 A T 10: 109,539,317 (GRCm39) M2028K probably benign Het
Ncr1 T A 7: 4,347,470 (GRCm39) W249R possibly damaging Het
Neurod6 T C 6: 55,656,616 (GRCm39) D7G probably damaging Het
Nwd1 A G 8: 73,389,046 (GRCm39) E158G probably damaging Het
Or10ak7 A T 4: 118,791,198 (GRCm39) N282K possibly damaging Het
Or2h15 A T 17: 38,441,941 (GRCm39) F47L probably benign Het
Or2t26 A G 11: 49,039,806 (GRCm39) T241A probably damaging Het
Or2y11 T C 11: 49,443,371 (GRCm39) S266P probably damaging Het
Or51a39 T C 7: 102,363,189 (GRCm39) N144D probably benign Het
Padi2 A G 4: 140,665,266 (GRCm39) D457G probably benign Het
Parn C A 16: 13,485,870 (GRCm39) probably null Het
Pcdh1 C T 18: 38,335,838 (GRCm39) E266K possibly damaging Het
Pigr A G 1: 130,777,303 (GRCm39) D703G probably damaging Het
Ppm1f T A 16: 16,732,098 (GRCm39) S183T probably benign Het
Ppp2r5b T A 19: 6,278,544 (GRCm39) Q455L probably benign Het
Pramel20 T A 4: 143,298,876 (GRCm39) L273H probably damaging Het
Ptpn13 C T 5: 103,688,847 (GRCm39) S880L probably damaging Het
Rin1 T C 19: 5,100,888 (GRCm39) M1T probably null Het
Rundc3b T A 5: 8,609,455 (GRCm39) M170L probably benign Het
Ryr3 A T 2: 112,611,322 (GRCm39) probably null Het
Scn11a T C 9: 119,624,783 (GRCm39) D513G probably damaging Het
Slc27a2 C A 2: 126,395,082 (GRCm39) P3Q unknown Het
Slc4a8 A G 15: 100,682,743 (GRCm39) I187M probably damaging Het
Slc6a11 A T 6: 114,215,422 (GRCm39) I441F probably benign Het
Stx2 C T 5: 129,065,867 (GRCm39) R263Q probably damaging Het
Svep1 A T 4: 58,145,185 (GRCm39) W427R probably damaging Het
Tes T A 6: 17,096,166 (GRCm39) H51Q probably damaging Het
Thnsl2 T C 6: 71,108,914 (GRCm39) D299G probably damaging Het
Tmem30b T C 12: 73,592,702 (GRCm39) S138G probably benign Het
Tmprss11c T A 5: 86,385,650 (GRCm39) H274L probably damaging Het
Trim10 G A 17: 37,180,773 (GRCm39) M1I probably null Het
Unc13b A G 4: 43,216,459 (GRCm39) I253V probably benign Het
Unc80 A G 1: 66,734,687 (GRCm39) S3305G probably benign Het
Ush2a TCACC TC 1: 188,694,205 (GRCm39) probably benign Het
Virma A G 4: 11,508,099 (GRCm39) D267G probably damaging Het
Vmn1r46 C T 6: 89,953,607 (GRCm39) S152L probably benign Het
Wdr90 T C 17: 26,065,502 (GRCm39) N1621S probably benign Het
Zfhx3 G A 8: 109,674,475 (GRCm39) A1842T probably damaging Het
Zfp583 A G 7: 6,319,498 (GRCm39) S505P probably damaging Het
Zfp608 T C 18: 55,030,619 (GRCm39) Y1107C possibly damaging Het
Zfp616 A G 11: 73,976,155 (GRCm39) H808R probably benign Het
Zfp677 T C 17: 21,618,653 (GRCm39) F570S possibly damaging Het
Zfp85 A T 13: 67,897,410 (GRCm39) Y221N probably damaging Het
Other mutations in R3hdm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:R3hdm4 APN 10 79,747,925 (GRCm39) missense probably damaging 1.00
PIT4472001:R3hdm4 UTSW 10 79,749,389 (GRCm39) critical splice donor site probably null
R0801:R3hdm4 UTSW 10 79,749,191 (GRCm39) unclassified probably benign
R1167:R3hdm4 UTSW 10 79,747,907 (GRCm39) critical splice donor site probably null
R3622:R3hdm4 UTSW 10 79,748,515 (GRCm39) missense possibly damaging 0.96
R5264:R3hdm4 UTSW 10 79,749,175 (GRCm39) missense probably benign 0.19
R5268:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5269:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5357:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5358:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5360:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5362:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5363:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5434:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5435:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5442:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5534:R3hdm4 UTSW 10 79,748,292 (GRCm39) missense possibly damaging 0.69
R5921:R3hdm4 UTSW 10 79,749,453 (GRCm39) missense probably damaging 1.00
R6041:R3hdm4 UTSW 10 79,749,495 (GRCm39) missense possibly damaging 0.46
R7496:R3hdm4 UTSW 10 79,752,708 (GRCm39) missense probably damaging 0.99
R7913:R3hdm4 UTSW 10 79,747,779 (GRCm39) missense probably damaging 1.00
R7983:R3hdm4 UTSW 10 79,748,557 (GRCm39) missense probably damaging 1.00
R9329:R3hdm4 UTSW 10 79,749,393 (GRCm39) missense probably damaging 1.00
R9706:R3hdm4 UTSW 10 79,752,655 (GRCm39) critical splice donor site probably null
X0022:R3hdm4 UTSW 10 79,749,486 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGTGTGATCTGGGACATG -3'
(R):5'- CTAGACAGACTCACAGCTCATG -3'

Sequencing Primer
(F):5'- TGTGATCTGGGACATGAAGGG -3'
(R):5'- CAGGGTCACTGGTGTAGTCC -3'
Posted On 2019-09-13