Incidental Mutation 'R9749:4933427D14Rik'
ID 732427
Institutional Source Beutler Lab
Gene Symbol 4933427D14Rik
Ensembl Gene ENSMUSG00000020807
Gene Name RIKEN cDNA 4933427D14 gene
Synonyms Gm43951
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9749 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 72044755-72098308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72080521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 382 (I382F)
Ref Sequence ENSEMBL: ENSMUSP00000104146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108506] [ENSMUST00000131546] [ENSMUST00000142530]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000108506
AA Change: I382F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807
AA Change: I382F

DomainStartEndE-ValueType
Pfam:DUF4673 1 954 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131546
AA Change: I382F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807
AA Change: I382F

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
coiled coil region 256 279 N/A INTRINSIC
low complexity region 291 305 N/A INTRINSIC
low complexity region 360 377 N/A INTRINSIC
low complexity region 545 559 N/A INTRINSIC
coiled coil region 625 653 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142530
SMART Domains Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
coiled coil region 210 231 N/A INTRINSIC
coiled coil region 256 279 N/A INTRINSIC
low complexity region 291 305 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A G 7: 82,099,394 (GRCm39) S183G probably benign Het
Adamtsl4 T C 3: 95,591,457 (GRCm39) H170R probably benign Het
Adcy2 T C 13: 68,773,974 (GRCm39) D1023G probably damaging Het
Agrn C A 4: 156,258,114 (GRCm39) V1083F probably benign Het
Arhgap21 T C 2: 20,854,026 (GRCm39) T1789A probably benign Het
Atr T C 9: 95,819,703 (GRCm39) probably null Het
Bcl2l13 T C 6: 120,842,633 (GRCm39) S109P possibly damaging Het
Bik A T 15: 83,425,540 (GRCm39) T14S possibly damaging Het
Car7 A G 8: 105,275,054 (GRCm39) D164G probably damaging Het
Cat T A 2: 103,285,445 (GRCm39) K499M probably benign Het
Ccar2 T A 14: 70,388,728 (GRCm39) Q161L probably benign Het
Cd109 T G 9: 78,592,166 (GRCm39) V760G probably damaging Het
Cep350 A T 1: 155,828,985 (GRCm39) H246Q probably benign Het
Cfap91 A G 16: 38,128,487 (GRCm39) I496T probably damaging Het
Chst13 T C 6: 90,295,251 (GRCm39) D54G probably damaging Het
Cilk1 T A 9: 78,060,999 (GRCm39) V215E probably damaging Het
Col4a4 A G 1: 82,463,353 (GRCm39) S1046P unknown Het
Col6a5 T C 9: 105,739,190 (GRCm39) Q2581R probably damaging Het
Cox5b-ps G A 13: 21,685,515 (GRCm39) A25V probably benign Het
Csmd2 A T 4: 128,389,921 (GRCm39) I2219F Het
Cux2 G A 5: 122,007,780 (GRCm39) S627L possibly damaging Het
Cyp2a22 A T 7: 26,638,715 (GRCm39) W24R probably null Het
Dhrs7c A T 11: 67,702,479 (GRCm39) T156S probably damaging Het
Dnah9 A G 11: 65,986,202 (GRCm39) V1144A probably damaging Het
Folh1 T C 7: 86,368,908 (GRCm39) T740A probably damaging Het
Foxo4 G A X: 100,301,955 (GRCm39) S209N probably benign Het
Gm10300 A G 4: 131,802,029 (GRCm39) T8A unknown Het
Gns T A 10: 121,214,057 (GRCm39) I244N probably benign Het
Gsdmd A G 15: 75,735,411 (GRCm39) K52E probably damaging Het
H1f0 A G 15: 78,913,217 (GRCm39) D99G probably benign Het
Hapln4 T C 8: 70,539,724 (GRCm39) Y252H probably damaging Het
Hmcn1 A C 1: 150,632,339 (GRCm39) I866S possibly damaging Het
Hrnr C T 3: 93,231,384 (GRCm39) R541C unknown Het
Igkv4-57-1 A G 6: 69,521,408 (GRCm39) I98T probably damaging Het
Itih3 T A 14: 30,641,279 (GRCm39) D253V probably damaging Het
Kansl1l T A 1: 66,760,970 (GRCm39) E869D probably damaging Het
Kif13a T C 13: 46,914,227 (GRCm39) Q502R probably damaging Het
Lama5 T A 2: 179,825,433 (GRCm39) Q2447L probably benign Het
Lcn6 A T 2: 25,570,034 (GRCm39) M1L probably benign Het
Lrrtm1 T C 6: 77,220,855 (GRCm39) V104A probably damaging Het
Map3k13 T C 16: 21,740,581 (GRCm39) L636P probably benign Het
Melk T A 4: 44,307,067 (GRCm39) H74Q possibly damaging Het
Mixl1 A T 1: 180,522,311 (GRCm39) M190K probably benign Het
Mttp A G 3: 137,830,989 (GRCm39) S27P probably damaging Het
Myh6 T C 14: 55,190,943 (GRCm39) I911V probably damaging Het
Ncapd3 T A 9: 26,956,873 (GRCm39) I262N probably benign Het
Ncapg2 C A 12: 116,411,368 (GRCm39) S1051* probably null Het
Nckap1 G A 2: 80,401,568 (GRCm39) Q39* probably null Het
Nemp1 A G 10: 127,524,198 (GRCm39) D76G probably benign Het
Or12e10 A C 2: 87,640,202 (GRCm39) K13Q probably benign Het
Or2a20 G A 6: 43,194,258 (GRCm39) W137* probably null Het
Or2l13 A T 16: 19,306,113 (GRCm39) H175L possibly damaging Het
Or4a2 T A 2: 89,248,662 (GRCm39) I32F possibly damaging Het
Or8k36-ps1 T C 2: 86,437,909 (GRCm39) E2G probably benign Het
Osbpl5 C A 7: 143,249,308 (GRCm39) V578L probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Rabl3 A G 16: 37,377,190 (GRCm39) D49G possibly damaging Het
Rngtt A G 4: 33,368,618 (GRCm39) I384V possibly damaging Het
Robo1 T C 16: 72,105,257 (GRCm39) probably benign Het
Rtcb C A 10: 85,785,453 (GRCm39) R125L probably damaging Het
Rtn4rl2 C A 2: 84,702,954 (GRCm39) R206L probably damaging Het
Sbk2 A T 7: 4,960,333 (GRCm39) I279N probably benign Het
Scaf1 A G 7: 44,656,576 (GRCm39) S768P unknown Het
Slc6a9 A G 4: 117,721,198 (GRCm39) H316R probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Tas2r136 G T 6: 132,755,106 (GRCm39) T7K probably damaging Het
Tbc1d9 T A 8: 83,968,339 (GRCm39) probably null Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tmem40 T C 6: 115,719,306 (GRCm39) D53G probably benign Het
Tram1 A T 1: 13,640,238 (GRCm39) V272D possibly damaging Het
Trpc4 G A 3: 54,102,302 (GRCm39) D67N probably damaging Het
Ttc6 A T 12: 57,701,559 (GRCm39) T591S probably benign Het
Ube2g1 A T 11: 72,570,199 (GRCm39) E144V probably benign Het
Unc80 A G 1: 66,544,179 (GRCm39) D434G probably damaging Het
Vmn1r168 C A 7: 23,240,237 (GRCm39) N31K probably damaging Het
Vmn1r79 A T 7: 11,910,450 (GRCm39) T111S probably damaging Het
Vmn2r118 C T 17: 55,915,415 (GRCm39) probably null Het
Vps35l C A 7: 118,352,107 (GRCm39) D195E probably benign Het
Yy1 A G 12: 108,772,417 (GRCm39) D231G possibly damaging Het
Zfp748 A G 13: 67,690,573 (GRCm39) V229A probably benign Het
Other mutations in 4933427D14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00707:4933427D14Rik APN 11 72,069,330 (GRCm39) missense probably damaging 1.00
IGL01643:4933427D14Rik APN 11 72,082,414 (GRCm39) missense probably damaging 1.00
IGL02004:4933427D14Rik APN 11 72,082,423 (GRCm39) missense possibly damaging 0.62
IGL02308:4933427D14Rik APN 11 72,093,308 (GRCm39) missense probably damaging 1.00
IGL02378:4933427D14Rik APN 11 72,080,424 (GRCm39) missense probably benign 0.02
IGL02715:4933427D14Rik APN 11 72,089,714 (GRCm39) missense probably damaging 1.00
IGL03330:4933427D14Rik APN 11 72,050,254 (GRCm39) missense probably damaging 1.00
IGL03384:4933427D14Rik APN 11 72,086,673 (GRCm39) missense possibly damaging 0.87
BB002:4933427D14Rik UTSW 11 72,071,327 (GRCm39) missense probably benign 0.31
BB012:4933427D14Rik UTSW 11 72,071,327 (GRCm39) missense probably benign 0.31
IGL03047:4933427D14Rik UTSW 11 72,057,552 (GRCm39) missense possibly damaging 0.74
R0114:4933427D14Rik UTSW 11 72,086,625 (GRCm39) missense probably damaging 1.00
R0526:4933427D14Rik UTSW 11 72,060,609 (GRCm39) missense probably damaging 1.00
R0653:4933427D14Rik UTSW 11 72,066,371 (GRCm39) nonsense probably null
R0669:4933427D14Rik UTSW 11 72,089,671 (GRCm39) missense possibly damaging 0.73
R0729:4933427D14Rik UTSW 11 72,050,281 (GRCm39) missense probably benign 0.07
R1797:4933427D14Rik UTSW 11 72,089,285 (GRCm39) missense possibly damaging 0.77
R3973:4933427D14Rik UTSW 11 72,089,567 (GRCm39) missense probably damaging 1.00
R4744:4933427D14Rik UTSW 11 72,066,365 (GRCm39) missense probably damaging 0.98
R4897:4933427D14Rik UTSW 11 72,082,342 (GRCm39) missense probably damaging 1.00
R5023:4933427D14Rik UTSW 11 72,057,581 (GRCm39) missense probably benign 0.07
R5057:4933427D14Rik UTSW 11 72,057,581 (GRCm39) missense probably benign 0.07
R5100:4933427D14Rik UTSW 11 72,057,477 (GRCm39) missense probably damaging 1.00
R5497:4933427D14Rik UTSW 11 72,056,360 (GRCm39) missense probably benign 0.22
R5556:4933427D14Rik UTSW 11 72,066,026 (GRCm39) splice site probably null
R5631:4933427D14Rik UTSW 11 72,067,590 (GRCm39) missense possibly damaging 0.71
R5683:4933427D14Rik UTSW 11 72,093,266 (GRCm39) missense probably benign
R5742:4933427D14Rik UTSW 11 72,056,379 (GRCm39) missense possibly damaging 0.63
R6247:4933427D14Rik UTSW 11 72,049,768 (GRCm39) missense probably benign 0.02
R6267:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
R6296:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
R6860:4933427D14Rik UTSW 11 72,080,412 (GRCm39) missense probably damaging 1.00
R7023:4933427D14Rik UTSW 11 72,069,229 (GRCm39) critical splice donor site probably null
R7328:4933427D14Rik UTSW 11 72,060,606 (GRCm39) critical splice donor site probably null
R7514:4933427D14Rik UTSW 11 72,086,628 (GRCm39) missense probably damaging 1.00
R7544:4933427D14Rik UTSW 11 72,089,765 (GRCm39) missense probably damaging 1.00
R7925:4933427D14Rik UTSW 11 72,071,327 (GRCm39) missense probably benign 0.31
R8204:4933427D14Rik UTSW 11 72,057,606 (GRCm39) missense probably benign 0.01
R8280:4933427D14Rik UTSW 11 72,086,667 (GRCm39) missense possibly damaging 0.70
R8316:4933427D14Rik UTSW 11 72,059,612 (GRCm39) missense possibly damaging 0.70
R8366:4933427D14Rik UTSW 11 72,067,521 (GRCm39) nonsense probably null
R8384:4933427D14Rik UTSW 11 72,057,591 (GRCm39) missense probably benign 0.08
R8722:4933427D14Rik UTSW 11 72,080,422 (GRCm39) missense probably benign 0.00
R8944:4933427D14Rik UTSW 11 72,049,851 (GRCm39) splice site probably benign
X0063:4933427D14Rik UTSW 11 72,067,595 (GRCm39) missense probably benign
X0065:4933427D14Rik UTSW 11 72,080,401 (GRCm39) missense possibly damaging 0.65
Z1176:4933427D14Rik UTSW 11 72,049,826 (GRCm39) missense probably benign 0.12
Z1186:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1186:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1186:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1186:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1186:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1186:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1186:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1186:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1186:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1186:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1187:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1187:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1187:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1187:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1187:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1187:4933427D14Rik UTSW 11 72,086,536 (GRCm39) frame shift probably null
Z1187:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1187:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1187:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1187:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1188:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1188:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1188:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1188:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1188:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1188:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1188:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1188:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1188:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1189:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1189:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1189:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1189:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1189:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1189:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1190:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1190:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1190:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1190:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1190:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1190:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1190:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1190:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1190:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1190:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1191:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1191:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1191:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1191:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1191:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1191:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1191:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1191:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1191:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1191:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Z1192:4933427D14Rik UTSW 11 72,089,308 (GRCm39) missense probably benign 0.13
Z1192:4933427D14Rik UTSW 11 72,086,595 (GRCm39) missense probably damaging 1.00
Z1192:4933427D14Rik UTSW 11 72,086,590 (GRCm39) frame shift probably null
Z1192:4933427D14Rik UTSW 11 72,086,580 (GRCm39) missense probably damaging 1.00
Z1192:4933427D14Rik UTSW 11 72,086,569 (GRCm39) missense possibly damaging 0.73
Z1192:4933427D14Rik UTSW 11 72,086,538 (GRCm39) frame shift probably null
Z1192:4933427D14Rik UTSW 11 72,080,442 (GRCm39) missense probably damaging 1.00
Z1192:4933427D14Rik UTSW 11 72,067,535 (GRCm39) missense possibly damaging 0.73
Z1192:4933427D14Rik UTSW 11 72,089,750 (GRCm39) missense probably damaging 1.00
Z1192:4933427D14Rik UTSW 11 72,089,360 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GATGTCAAGTGCACATGTATCC -3'
(R):5'- GACAGCCATTTAATGACTTGTCTC -3'

Sequencing Primer
(F):5'- CAGTCAGCTTACCAATAACTGTTTC -3'
(R):5'- CCATTTAATGACTTGTCTCTGGATG -3'
Posted On 2022-11-14