Incidental Mutation 'R6160:R3hdm2'
ID 489816
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 044307-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # R6160 (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 C at 127320376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 532 (I532T)
Ref Sequence ENSEMBL: ENSMUSP00000100884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000166820] [ENSMUST00000169888] [ENSMUST00000170336] [ENSMUST00000168079]
AlphaFold Q80TM6
Predicted Effect probably damaging
Transcript: ENSMUST00000064793
AA Change: I539T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: I539T

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 damaging
Transcript: ENSMUST00000077046
AA Change: I584T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: I584T

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 damaging
Transcript: ENSMUST00000105249
AA Change: I532T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: I532T

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 damaging
Transcript: ENSMUST00000105250
AA Change: I566T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: I566T

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 damaging
Transcript: ENSMUST00000105251
AA Change: I566T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: I566T

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 noncoding transcript
Transcript: ENSMUST00000164469
Predicted Effect probably damaging
Transcript: ENSMUST00000164831
AA Change: I518T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: I518T

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: ENSMUST00000166820
AA Change: I584T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: I584T

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: ENSMUST00000169888
AA Change: I283T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
AA Change: I283T

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 damaging
Transcript: ENSMUST00000170336
AA Change: I552T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: I552T

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: ENSMUST00000168268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171823
Predicted Effect probably benign
Transcript: ENSMUST00000168079
SMART Domains Protein: ENSMUSP00000130506
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
low complexity region 43 63 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 94% (62/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,642,950 (GRCm39) S297R possibly damaging Het
5530400C23Rik A G 6: 133,271,289 (GRCm39) E111G possibly damaging Het
8030423J24Rik T A 13: 71,032,029 (GRCm39) S34T unknown Het
Ace3 T A 11: 105,885,558 (GRCm39) W20R possibly damaging Het
Adgrf1 A G 17: 43,621,578 (GRCm39) E605G probably damaging Het
Arhgap44 G A 11: 65,053,375 (GRCm39) probably benign Het
Atm A C 9: 53,402,259 (GRCm39) H1404Q probably benign Het
AW209491 A G 13: 14,811,306 (GRCm39) E53G probably damaging Het
Bhmt1b G A 18: 87,775,245 (GRCm39) C256Y probably damaging Het
Cdt1 C T 8: 123,298,107 (GRCm39) T366I probably benign Het
Cerk A T 15: 86,026,974 (GRCm39) C179S probably benign Het
Cldn10 T C 14: 119,099,255 (GRCm39) V123A possibly damaging Het
Clip1 T C 5: 123,751,604 (GRCm39) K726E possibly damaging Het
Dcaf12 A T 4: 41,294,043 (GRCm39) Y365N probably damaging Het
Dennd6b A G 15: 89,073,024 (GRCm39) L171P probably damaging Het
Dip2c G A 13: 9,583,290 (GRCm39) V91I probably benign Het
Dlec1 A G 9: 118,972,387 (GRCm39) I1431V probably benign Het
Egln1 T C 8: 125,675,231 (GRCm39) D188G probably damaging Het
Enpp5 T A 17: 44,392,259 (GRCm39) N229K possibly damaging Het
Fmo1 T G 1: 162,663,867 (GRCm39) I221L probably benign Het
Fsip2 G A 2: 82,818,289 (GRCm39) W4674* probably null Het
Gm12185 G A 11: 48,799,255 (GRCm39) Q413* probably null Het
Gm7298 A T 6: 121,741,886 (GRCm39) H436L probably benign Het
Gucy2c G A 6: 136,717,684 (GRCm39) Q430* probably null Het
Hgd A G 16: 37,433,660 (GRCm39) H134R probably damaging Het
Hoxd8 A G 2: 74,536,343 (GRCm39) E151G probably damaging Het
Il15ra A G 2: 11,724,827 (GRCm39) D99G probably damaging Het
Ints4 T A 7: 97,158,790 (GRCm39) probably null Het
Itgb1 T A 8: 129,446,764 (GRCm39) F426L possibly damaging Het
Itpr1 A C 6: 108,495,716 (GRCm39) I2534L probably benign Het
Kcnq4 T A 4: 120,573,756 (GRCm39) H235L probably damaging Het
Kcnt1 T A 2: 25,782,395 (GRCm39) I178N probably damaging Het
Kidins220 A G 12: 25,047,310 (GRCm39) D252G probably damaging Het
Krt23 A G 11: 99,376,544 (GRCm39) I204T probably damaging Het
Lipo4 A G 19: 33,480,693 (GRCm39) L225P probably damaging Het
Lrp3 T C 7: 34,903,548 (GRCm39) D245G possibly damaging Het
Mmp16 A G 4: 18,051,857 (GRCm39) D282G probably damaging Het
Myo1c A T 11: 75,541,568 (GRCm39) H18L probably benign Het
Myo1f C A 17: 33,823,318 (GRCm39) P981Q probably benign Het
Nle1 A T 11: 82,798,983 (GRCm39) F33I probably benign Het
Nlrp4e T G 7: 23,020,731 (GRCm39) M406R probably damaging Het
Obscn A T 11: 58,942,611 (GRCm39) V4857E probably damaging Het
Palb2 A T 7: 121,727,643 (GRCm39) probably null Het
Phospho1 A T 11: 95,721,450 (GRCm39) E22V probably damaging Het
Pom121l2 C T 13: 22,167,838 (GRCm39) S703L possibly damaging Het
Prex2 T C 1: 11,064,075 (GRCm39) L20P probably damaging Het
Psmb7 T C 2: 38,533,393 (GRCm39) T45A probably damaging Het
Rcn1 T C 2: 105,222,362 (GRCm39) D208G probably damaging Het
Recql5 A G 11: 115,823,613 (GRCm39) probably null Het
Resf1 G A 6: 149,233,005 (GRCm39) probably null Het
Rfc4 A T 16: 22,933,433 (GRCm39) I242N probably damaging Het
Rims1 T C 1: 22,503,235 (GRCm39) Y650C probably damaging Het
Shc2 C T 10: 79,462,853 (GRCm39) probably null Het
Slc14a2 A T 18: 78,202,190 (GRCm39) probably null Het
Slc6a6 A T 6: 91,716,995 (GRCm39) probably null Het
Synj2 C A 17: 6,058,336 (GRCm39) H275N possibly damaging Het
T A T 17: 8,660,618 (GRCm39) T410S probably benign Het
Tars3 A G 7: 65,332,527 (GRCm39) I543V probably benign Het
Tbc1d8 T A 1: 39,411,484 (GRCm39) K1117N probably damaging Het
Tm7sf3 A T 6: 146,507,787 (GRCm39) L425* probably null Het
Trav14-3 A G 14: 54,000,978 (GRCm39) Y63C probably damaging Het
Tyro3 A C 2: 119,633,751 (GRCm39) D133A probably damaging Het
Vmn1r119 T G 7: 20,745,740 (GRCm39) H214P possibly damaging Het
Vmn2r120 G A 17: 57,816,418 (GRCm39) P646S probably benign Het
Zbtb7c A T 18: 76,278,904 (GRCm39) Y454F probably benign Het
Zmym2 T C 14: 57,187,766 (GRCm39) L1144P probably 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
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
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'- GACAACTGGAAGCATGCTGC -3'
(R):5'- CTTAACTCCGCAGATGGGAAG -3'

Sequencing Primer
(F):5'- AAGCATGCTGCCCTCGTTG -3'
(R):5'- AGATGGGAAGCCTCTCTCC -3'
Posted On 2017-10-10