Incidental Mutation 'R4649:R3hdm1'
ID 350546
Institutional Source Beutler Lab
Gene Symbol R3hdm1
Ensembl Gene ENSMUSG00000056211
Gene Name R3H domain containing 1
Synonyms
MMRRC Submission 041910-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4649 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 128031038-128165473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128112181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 422 (S422P)
Ref Sequence ENSEMBL: ENSMUSP00000141142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036288] [ENSMUST00000187023] [ENSMUST00000187900] [ENSMUST00000190056]
AlphaFold E9Q9Q2
Predicted Effect probably benign
Transcript: ENSMUST00000036288
AA Change: S422P

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: S422P

DomainStartEndE-ValueType
coiled coil region 9 31 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
low complexity region 86 99 N/A INTRINSIC
R3H 151 228 3.18e-22 SMART
Pfam:SUZ 249 302 8.8e-15 PFAM
low complexity region 391 424 N/A INTRINSIC
low complexity region 511 534 N/A INTRINSIC
low complexity region 624 642 N/A INTRINSIC
low complexity region 909 927 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185471
Predicted Effect probably benign
Transcript: ENSMUST00000185853
Predicted Effect probably damaging
Transcript: ENSMUST00000187023
AA Change: S366P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211
AA Change: S366P

DomainStartEndE-ValueType
R3H 95 172 1.9e-24 SMART
Pfam:SUZ 193 246 2.6e-11 PFAM
low complexity region 335 368 N/A INTRINSIC
low complexity region 455 478 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187900
AA Change: S422P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
AA Change: S422P

DomainStartEndE-ValueType
coiled coil region 9 31 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
low complexity region 86 99 N/A INTRINSIC
R3H 151 228 3.18e-22 SMART
Pfam:SUZ 249 302 2.7e-14 PFAM
low complexity region 391 424 N/A INTRINSIC
low complexity region 511 534 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190056
AA Change: S113P

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: S113P

DomainStartEndE-ValueType
low complexity region 82 115 N/A INTRINSIC
low complexity region 202 225 N/A INTRINSIC
low complexity region 281 299 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191016
Meta Mutation Damage Score 0.1281 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,963,542 (GRCm39) V841F probably damaging Het
Adcy10 G A 1: 165,331,618 (GRCm39) E84K probably damaging Het
Adgrg6 C A 10: 14,344,571 (GRCm39) M127I probably damaging Het
Agpat5 A G 8: 18,929,668 (GRCm39) I266V possibly damaging Het
Agtpbp1 A T 13: 59,676,213 (GRCm39) Y186N possibly damaging Het
Alx1 A T 10: 102,845,193 (GRCm39) N279K probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Arsi A G 18: 61,050,170 (GRCm39) Y351C probably damaging Het
B4galnt3 T A 6: 120,201,581 (GRCm39) R155W probably damaging Het
BC028528 T C 3: 95,795,577 (GRCm39) E75G probably damaging Het
Bmp2k C T 5: 97,200,970 (GRCm39) P297S possibly damaging Het
Btnl4 A G 17: 34,691,602 (GRCm39) S296P probably benign Het
Bzw2 A T 12: 36,173,980 (GRCm39) V98E probably null Het
Cacna1d C T 14: 29,817,365 (GRCm39) M1232I probably benign Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Catsperb G A 12: 101,507,771 (GRCm39) A513T probably benign Het
Cd19 A G 7: 126,013,664 (GRCm39) S42P probably benign Het
Chml A G 1: 175,514,962 (GRCm39) S138P probably benign Het
Clic6 T G 16: 92,327,827 (GRCm39) probably null Het
Col12a1 A T 9: 79,547,076 (GRCm39) V2252E probably damaging Het
Cplx2 G A 13: 54,527,361 (GRCm39) E82K probably benign Het
Csmd2 G A 4: 128,439,866 (GRCm39) V3107M probably benign Het
Cspg4 T A 9: 56,794,149 (GRCm39) V628D possibly damaging Het
Dcaf13 G A 15: 39,001,637 (GRCm39) R315Q possibly damaging Het
Deaf1 A G 7: 140,877,486 (GRCm39) V547A possibly damaging Het
Dmxl1 C T 18: 50,011,698 (GRCm39) T1285I probably damaging Het
Dnah3 C A 7: 119,646,921 (GRCm39) W1036L probably damaging Het
Dnai3 A G 3: 145,753,922 (GRCm39) S713P probably damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dsg2 T A 18: 20,735,302 (GRCm39) D1093E possibly damaging Het
Edaradd T A 13: 12,523,304 (GRCm39) H12L probably damaging Het
Enam T C 5: 88,640,827 (GRCm39) M163T probably benign Het
Fbxo22 T A 9: 55,128,333 (GRCm39) V218E probably damaging Het
Fbxo34 A T 14: 47,767,085 (GRCm39) K148N probably damaging Het
Foxi3 A G 6: 70,933,960 (GRCm39) D149G probably damaging Het
Gbp8 C T 5: 105,189,807 (GRCm39) G75D probably damaging Het
Gm10784 C T 13: 50,099,251 (GRCm39) noncoding transcript Het
Gm7247 G A 14: 51,807,051 (GRCm39) probably null Het
Grik3 T A 4: 125,544,278 (GRCm39) V333E probably damaging Het
Gsap A T 5: 21,431,309 (GRCm39) D211V probably damaging Het
H2-T15 T C 17: 36,368,768 (GRCm39) Y104C possibly damaging Het
Ino80 T C 2: 119,261,489 (GRCm39) N725S probably damaging Het
Itgad A G 7: 127,788,703 (GRCm39) I443V probably benign Het
Itsn1 T A 16: 91,638,476 (GRCm39) I52N probably damaging Het
Kmt2b TCTCCTCCTCCTCCTCCTCCTCCTCC TCTCCTCCTCCTCCTCCTCCTCC 7: 30,285,783 (GRCm39) probably benign Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Lyn C A 4: 3,738,850 (GRCm39) Q41K probably benign Het
Mapk13 C T 17: 28,997,461 (GRCm39) R360* probably null Het
Mapk8ip3 T A 17: 25,123,726 (GRCm39) I599F probably damaging Het
Me1 T C 9: 86,561,905 (GRCm39) K60R probably benign Het
Mga T A 2: 119,771,974 (GRCm39) D1532E possibly damaging Het
Miga1 G A 3: 151,984,642 (GRCm39) S427L probably benign Het
Mknk2 A T 10: 80,505,173 (GRCm39) V186E probably damaging Het
Myo1a C A 10: 127,546,086 (GRCm39) N236K probably benign Het
Myt1 A G 2: 181,439,207 (GRCm39) D243G probably benign Het
Ncf4 T C 15: 78,140,189 (GRCm39) V196A possibly damaging Het
Nlrp5 G T 7: 23,117,603 (GRCm39) L442F probably damaging Het
Olfm4 G A 14: 80,258,747 (GRCm39) D332N probably benign Het
Or4a81 C A 2: 89,619,637 (GRCm39) V20F probably benign Het
Or4b1d T A 2: 89,969,432 (GRCm39) D17V probably damaging Het
Osbpl11 T A 16: 33,016,452 (GRCm39) M69K probably benign Het
Oxnad1 T A 14: 31,824,366 (GRCm39) *312K probably null Het
Plekhg1 A G 10: 3,906,985 (GRCm39) Q634R probably benign Het
Plekhh2 T C 17: 84,882,691 (GRCm39) Y733H probably damaging Het
Ppp1r21 A G 17: 88,856,941 (GRCm39) H132R probably benign Het
Prkcq T C 2: 11,284,333 (GRCm39) V501A possibly damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Pudp T C 18: 50,701,259 (GRCm39) D158G probably damaging Het
Ranbp3 T A 17: 57,003,640 (GRCm39) probably null Het
Ranbp6 A G 19: 29,787,721 (GRCm39) V877A probably benign Het
Rgsl1 A T 1: 153,693,328 (GRCm39) S618T probably benign Het
Rhox2a A T X: 36,509,015 (GRCm39) I61L probably benign Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rnf207 A C 4: 152,396,612 (GRCm39) D466E probably benign Het
Rnf7 A G 9: 96,353,883 (GRCm39) I80T probably benign Het
Ros1 T A 10: 52,005,764 (GRCm39) I878F possibly damaging Het
Rsbn1 T A 3: 103,861,096 (GRCm39) probably null Het
Sbk1 T C 7: 125,890,301 (GRCm39) S105P probably damaging Het
Sdk1 T C 5: 141,992,380 (GRCm39) Y790H probably damaging Het
Sec62 T A 3: 30,864,683 (GRCm39) N182K unknown Het
Slc15a1 T C 14: 121,715,504 (GRCm39) Y345C probably damaging Het
Slc27a1 G A 8: 72,023,408 (GRCm39) A15T probably benign Het
Slc35d1 A G 4: 103,070,426 (GRCm39) F110L probably damaging Het
Slc39a5 T A 10: 128,233,136 (GRCm39) S333C probably benign Het
Tarbp1 A G 8: 127,173,934 (GRCm39) S927P probably damaging Het
Tns1 A G 1: 73,992,930 (GRCm39) S583P probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trim40 T C 17: 37,193,531 (GRCm39) probably null Het
Trim42 C A 9: 97,244,998 (GRCm39) V601L probably benign Het
Trpc7 G A 13: 57,035,367 (GRCm39) R189C probably damaging Het
Ttc29 A T 8: 79,060,208 (GRCm39) Y376F probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vmn2r68 C A 7: 84,870,743 (GRCm39) A847S probably benign Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly damaging Het
Zfat A G 15: 68,056,325 (GRCm39) Y237H probably damaging Het
Zfp236 A T 18: 82,615,784 (GRCm39) W1840R probably damaging Het
Zfp426 G T 9: 20,381,923 (GRCm39) Q341K possibly damaging Het
Zfp462 T A 4: 55,009,349 (GRCm39) N438K probably benign Het
Zfp952 T A 17: 33,221,899 (GRCm39) V88E probably damaging Het
Znfx1 G T 2: 166,898,276 (GRCm39) A216D probably benign Het
Other mutations in R3hdm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:R3hdm1 APN 1 128,164,176 (GRCm39) missense probably damaging 1.00
IGL00799:R3hdm1 APN 1 128,102,700 (GRCm39) missense probably damaging 1.00
IGL00835:R3hdm1 APN 1 128,163,369 (GRCm39) splice site probably benign
IGL00885:R3hdm1 APN 1 128,164,175 (GRCm39) missense probably damaging 0.99
IGL00990:R3hdm1 APN 1 128,089,933 (GRCm39) intron probably benign
IGL01137:R3hdm1 APN 1 128,109,612 (GRCm39) missense probably damaging 1.00
IGL01323:R3hdm1 APN 1 128,144,280 (GRCm39) missense probably benign
IGL01461:R3hdm1 APN 1 128,106,643 (GRCm39) missense probably damaging 1.00
IGL01565:R3hdm1 APN 1 128,114,553 (GRCm39) missense probably damaging 1.00
IGL01813:R3hdm1 APN 1 128,102,970 (GRCm39) critical splice donor site probably null
IGL01837:R3hdm1 APN 1 128,114,497 (GRCm39) nonsense probably null
IGL01934:R3hdm1 APN 1 128,164,272 (GRCm39) missense probably benign 0.12
IGL02074:R3hdm1 APN 1 128,096,775 (GRCm39) missense possibly damaging 0.48
IGL02532:R3hdm1 APN 1 128,124,836 (GRCm39) critical splice donor site probably null
IGL02606:R3hdm1 APN 1 128,118,456 (GRCm39) missense probably benign 0.00
IGL02851:R3hdm1 APN 1 128,102,677 (GRCm39) splice site probably benign
driven UTSW 1 128,121,302 (GRCm39) missense probably benign 0.00
R0023:R3hdm1 UTSW 1 128,138,929 (GRCm39) splice site probably benign
R0280:R3hdm1 UTSW 1 128,090,512 (GRCm39) missense probably benign 0.00
R0482:R3hdm1 UTSW 1 128,112,254 (GRCm39) missense probably benign 0.12
R0521:R3hdm1 UTSW 1 128,121,440 (GRCm39) missense probably benign 0.07
R0578:R3hdm1 UTSW 1 128,159,174 (GRCm39) nonsense probably null
R0698:R3hdm1 UTSW 1 128,109,476 (GRCm39) missense probably damaging 1.00
R0701:R3hdm1 UTSW 1 128,109,476 (GRCm39) missense probably damaging 1.00
R0961:R3hdm1 UTSW 1 128,121,333 (GRCm39) missense probably benign 0.13
R1026:R3hdm1 UTSW 1 128,124,742 (GRCm39) missense probably damaging 1.00
R1141:R3hdm1 UTSW 1 128,159,142 (GRCm39) missense probably benign 0.01
R1319:R3hdm1 UTSW 1 128,159,142 (GRCm39) missense probably benign 0.01
R1320:R3hdm1 UTSW 1 128,159,142 (GRCm39) missense probably benign 0.01
R1511:R3hdm1 UTSW 1 128,124,742 (GRCm39) missense probably damaging 1.00
R1705:R3hdm1 UTSW 1 128,162,821 (GRCm39) missense probably damaging 1.00
R1991:R3hdm1 UTSW 1 128,096,753 (GRCm39) missense probably damaging 0.99
R2140:R3hdm1 UTSW 1 128,118,430 (GRCm39) missense probably damaging 0.99
R2437:R3hdm1 UTSW 1 128,114,573 (GRCm39) missense probably damaging 0.98
R2447:R3hdm1 UTSW 1 128,114,666 (GRCm39) intron probably benign
R4564:R3hdm1 UTSW 1 128,149,396 (GRCm39) missense probably benign 0.16
R4640:R3hdm1 UTSW 1 128,102,975 (GRCm39) splice site probably benign
R4650:R3hdm1 UTSW 1 128,112,181 (GRCm39) missense probably damaging 1.00
R4652:R3hdm1 UTSW 1 128,112,181 (GRCm39) missense probably damaging 1.00
R4653:R3hdm1 UTSW 1 128,112,181 (GRCm39) missense probably damaging 1.00
R4696:R3hdm1 UTSW 1 128,164,503 (GRCm39) utr 3 prime probably benign
R5393:R3hdm1 UTSW 1 128,159,084 (GRCm39) missense probably benign
R5554:R3hdm1 UTSW 1 128,164,409 (GRCm39) missense probably benign 0.27
R5979:R3hdm1 UTSW 1 128,138,960 (GRCm39) missense probably benign 0.04
R6123:R3hdm1 UTSW 1 128,096,773 (GRCm39) missense probably damaging 0.99
R6185:R3hdm1 UTSW 1 128,079,598 (GRCm39) missense possibly damaging 0.93
R6618:R3hdm1 UTSW 1 128,121,302 (GRCm39) missense probably benign 0.00
R6636:R3hdm1 UTSW 1 128,090,548 (GRCm39) frame shift probably null
R6639:R3hdm1 UTSW 1 128,090,548 (GRCm39) frame shift probably null
R6756:R3hdm1 UTSW 1 128,090,548 (GRCm39) frame shift probably null
R7168:R3hdm1 UTSW 1 128,144,232 (GRCm39) missense probably benign 0.05
R7210:R3hdm1 UTSW 1 128,138,945 (GRCm39) missense possibly damaging 0.95
R7367:R3hdm1 UTSW 1 128,081,129 (GRCm39) missense possibly damaging 0.64
R7536:R3hdm1 UTSW 1 128,109,948 (GRCm39) splice site probably null
R7896:R3hdm1 UTSW 1 128,096,703 (GRCm39) splice site probably null
R8391:R3hdm1 UTSW 1 128,121,215 (GRCm39) missense
R8486:R3hdm1 UTSW 1 128,106,657 (GRCm39) missense probably benign 0.11
R8490:R3hdm1 UTSW 1 128,162,864 (GRCm39) missense probably benign 0.26
R8947:R3hdm1 UTSW 1 128,102,694 (GRCm39) missense possibly damaging 0.60
R8990:R3hdm1 UTSW 1 128,106,833 (GRCm39) missense probably damaging 1.00
R9141:R3hdm1 UTSW 1 128,164,212 (GRCm39) missense probably damaging 1.00
R9195:R3hdm1 UTSW 1 128,089,975 (GRCm39) missense probably benign 0.28
R9426:R3hdm1 UTSW 1 128,164,212 (GRCm39) missense probably damaging 1.00
R9469:R3hdm1 UTSW 1 128,106,921 (GRCm39) critical splice donor site probably null
X0017:R3hdm1 UTSW 1 128,095,658 (GRCm39) missense possibly damaging 0.92
X0020:R3hdm1 UTSW 1 128,096,770 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGATAAGCTTAAAGAACCACTAGGC -3'
(R):5'- AATACTGCCAGGTGGTATGCC -3'

Sequencing Primer
(F):5'- GGCAGTAAATTATAGAAGCCATTGC -3'
(R):5'- ATGCCAGTTGCTTCCAAGG -3'
Posted On 2015-10-08