Incidental Mutation 'IGL02992:Relch'
ID 406999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Relch
Ensembl Gene ENSMUSG00000026319
Gene Name RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing
Synonyms 2310035C23Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # IGL02992
Quality Score
Status
Chromosome 1
Chromosomal Location 105591570-105682856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105647189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 684 (L684M)
Ref Sequence ENSEMBL: ENSMUSP00000083926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039173] [ENSMUST00000086721] [ENSMUST00000186807] [ENSMUST00000190501]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039173
AA Change: L684M

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: L684M

DomainStartEndE-ValueType
low complexity region 7 14 N/A INTRINSIC
low complexity region 20 28 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
low complexity region 107 119 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
LisH 231 263 1.25e-3 SMART
coiled coil region 334 372 N/A INTRINSIC
SCOP:d1b3ua_ 532 1069 4e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000086721
AA Change: L684M

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: L684M

DomainStartEndE-ValueType
low complexity region 7 14 N/A INTRINSIC
low complexity region 20 28 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
low complexity region 107 119 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
coiled coil region 197 232 N/A INTRINSIC
LisH 255 287 1.25e-3 SMART
coiled coil region 358 396 N/A INTRINSIC
SCOP:d1b3ua_ 556 1093 5e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185692
Predicted Effect probably benign
Transcript: ENSMUST00000186807
SMART Domains Protein: ENSMUSP00000140699
Gene: ENSMUSG00000026319

DomainStartEndE-ValueType
low complexity region 7 14 N/A INTRINSIC
low complexity region 20 28 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
low complexity region 107 119 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
coiled coil region 197 232 N/A INTRINSIC
LisH 255 287 3.9e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188969
Predicted Effect possibly damaging
Transcript: ENSMUST00000190501
AA Change: L660M

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: L660M

DomainStartEndE-ValueType
low complexity region 7 14 N/A INTRINSIC
low complexity region 20 28 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
low complexity region 107 119 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
LisH 231 263 1.25e-3 SMART
coiled coil region 334 372 N/A INTRINSIC
SCOP:d1b3ua_ 532 1069 4e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191293
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,921,935 (GRCm39) K1164E probably damaging Het
Arhgap42 G A 9: 8,998,249 (GRCm39) probably benign Het
Arhgef12 T C 9: 42,910,373 (GRCm39) D612G probably damaging Het
Cpne3 T C 4: 19,532,486 (GRCm39) D309G probably benign Het
Daw1 T C 1: 83,174,934 (GRCm39) probably benign Het
Daxx T A 17: 34,130,722 (GRCm39) C246S probably damaging Het
Dpp7 T C 2: 25,244,589 (GRCm39) D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 (GRCm39) H1472L probably benign Het
Fastkd2 T C 1: 63,777,083 (GRCm39) probably benign Het
Fcrl2 T G 3: 87,166,773 (GRCm39) R73S probably damaging Het
Gatb A G 3: 85,526,223 (GRCm39) D367G probably damaging Het
Gm20547 T A 17: 35,076,095 (GRCm39) E654V probably damaging Het
Gm839 T A 6: 89,189,509 (GRCm39) noncoding transcript Het
Gtf2ird2 A T 5: 134,246,456 (GRCm39) M905L possibly damaging Het
Hoxb2 A T 11: 96,243,910 (GRCm39) I174F probably damaging Het
Hrh3 A G 2: 179,742,608 (GRCm39) V308A probably benign Het
Ints9 A G 14: 65,217,613 (GRCm39) K47E probably benign Het
Irak3 A T 10: 120,018,566 (GRCm39) Y61N probably damaging Het
Itpr1 A G 6: 108,358,276 (GRCm39) E614G probably damaging Het
Lgals3 A T 14: 47,622,982 (GRCm39) I214L probably benign Het
Msh4 G T 3: 153,577,962 (GRCm39) T444K possibly damaging Het
Myh7b C A 2: 155,463,330 (GRCm39) Q521K probably damaging Het
Naip5 T A 13: 100,359,536 (GRCm39) I567F probably damaging Het
Nf1 A G 11: 79,325,759 (GRCm39) probably benign Het
Nlrc3 C T 16: 3,771,887 (GRCm39) probably benign Het
Nlrc5 A C 8: 95,233,201 (GRCm39) E1353A possibly damaging Het
Nr1h3 T A 2: 91,020,911 (GRCm39) I260F probably damaging Het
Pcnx1 G A 12: 82,010,894 (GRCm39) R1211Q probably damaging Het
Pde10a A G 17: 9,168,293 (GRCm39) K605E probably damaging Het
Pdzd2 T C 15: 12,382,708 (GRCm39) E1215G possibly damaging Het
Pex12 A G 11: 83,188,753 (GRCm39) S81P probably damaging Het
Pik3c2b C A 1: 132,994,718 (GRCm39) Y227* probably null Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Prkg2 T G 5: 99,172,365 (GRCm39) S117R probably benign Het
Prl3d2 A T 13: 27,311,266 (GRCm39) E179D probably benign Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Scn10a T C 9: 119,438,626 (GRCm39) T1748A possibly damaging Het
Septin10 T C 10: 59,028,000 (GRCm39) N107S possibly damaging Het
Smu1 T A 4: 40,739,550 (GRCm39) N420I probably damaging Het
Sos1 A G 17: 80,726,445 (GRCm39) F835L probably benign Het
Spg11 T C 2: 121,888,879 (GRCm39) D2164G probably damaging Het
Svbp A G 4: 119,053,127 (GRCm39) E8G probably damaging Het
Tgm3 T A 2: 129,883,899 (GRCm39) M519K probably damaging Het
Tspan12 A G 6: 21,799,876 (GRCm39) probably null Het
Vps52 T C 17: 34,177,324 (GRCm39) V122A probably damaging Het
Wipf1 T C 2: 73,264,427 (GRCm39) Y458C probably damaging Het
Zfp369 T A 13: 65,442,265 (GRCm39) D286E possibly damaging Het
Other mutations in Relch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Relch APN 1 105,624,324 (GRCm39) splice site probably benign
IGL02393:Relch APN 1 105,615,093 (GRCm39) missense probably damaging 1.00
IGL02655:Relch APN 1 105,605,971 (GRCm39) missense probably damaging 1.00
IGL03170:Relch APN 1 105,663,680 (GRCm39) missense probably damaging 0.99
detention UTSW 1 105,678,121 (GRCm39) missense possibly damaging 0.54
hiatus UTSW 1 105,649,030 (GRCm39) missense probably benign 0.17
limbo UTSW 1 105,620,685 (GRCm39) missense probably benign
IGL03050:Relch UTSW 1 105,654,106 (GRCm39) missense probably damaging 0.98
R0022:Relch UTSW 1 105,619,627 (GRCm39) splice site probably benign
R0399:Relch UTSW 1 105,678,684 (GRCm39) splice site probably benign
R1243:Relch UTSW 1 105,678,089 (GRCm39) missense probably damaging 1.00
R1563:Relch UTSW 1 105,647,259 (GRCm39) missense probably damaging 1.00
R1760:Relch UTSW 1 105,647,169 (GRCm39) splice site probably benign
R1894:Relch UTSW 1 105,592,301 (GRCm39) missense probably benign 0.12
R2036:Relch UTSW 1 105,670,979 (GRCm39) missense probably damaging 1.00
R2428:Relch UTSW 1 105,673,851 (GRCm39) missense possibly damaging 0.88
R2905:Relch UTSW 1 105,619,719 (GRCm39) missense probably benign 0.04
R3121:Relch UTSW 1 105,653,524 (GRCm39) missense probably benign 0.15
R3750:Relch UTSW 1 105,681,302 (GRCm39) missense probably damaging 1.00
R3886:Relch UTSW 1 105,619,938 (GRCm39) missense probably benign 0.14
R4284:Relch UTSW 1 105,649,012 (GRCm39) missense probably damaging 0.98
R4671:Relch UTSW 1 105,646,584 (GRCm39) missense probably benign 0.00
R4706:Relch UTSW 1 105,620,004 (GRCm39) missense probably benign 0.28
R4760:Relch UTSW 1 105,649,030 (GRCm39) missense probably benign 0.17
R4776:Relch UTSW 1 105,647,260 (GRCm39) nonsense probably null
R5031:Relch UTSW 1 105,592,239 (GRCm39) missense probably damaging 1.00
R5051:Relch UTSW 1 105,619,711 (GRCm39) missense possibly damaging 0.85
R5085:Relch UTSW 1 105,605,905 (GRCm39) missense probably damaging 0.99
R5104:Relch UTSW 1 105,658,965 (GRCm39) missense probably benign 0.45
R5187:Relch UTSW 1 105,646,534 (GRCm39) nonsense probably null
R5259:Relch UTSW 1 105,649,101 (GRCm39) missense probably benign 0.01
R5435:Relch UTSW 1 105,668,975 (GRCm39) intron probably benign
R5444:Relch UTSW 1 105,654,109 (GRCm39) missense possibly damaging 0.60
R5490:Relch UTSW 1 105,647,226 (GRCm39) missense probably damaging 0.99
R5513:Relch UTSW 1 105,678,698 (GRCm39) missense probably damaging 0.99
R5556:Relch UTSW 1 105,620,892 (GRCm39) missense probably benign
R5734:Relch UTSW 1 105,631,608 (GRCm39) intron probably benign
R5779:Relch UTSW 1 105,615,072 (GRCm39) missense probably damaging 1.00
R5822:Relch UTSW 1 105,646,581 (GRCm39) missense probably damaging 1.00
R5878:Relch UTSW 1 105,620,685 (GRCm39) missense probably benign
R6015:Relch UTSW 1 105,619,683 (GRCm39) missense probably damaging 1.00
R6051:Relch UTSW 1 105,648,997 (GRCm39) missense probably damaging 1.00
R6266:Relch UTSW 1 105,659,007 (GRCm39) critical splice donor site probably null
R6556:Relch UTSW 1 105,654,165 (GRCm39) missense probably damaging 1.00
R6571:Relch UTSW 1 105,620,707 (GRCm39) missense probably benign
R6612:Relch UTSW 1 105,619,732 (GRCm39) missense possibly damaging 0.72
R6852:Relch UTSW 1 105,681,320 (GRCm39) missense probably damaging 1.00
R7209:Relch UTSW 1 105,678,082 (GRCm39) missense probably damaging 1.00
R7284:Relch UTSW 1 105,662,308 (GRCm39) missense probably benign 0.01
R7292:Relch UTSW 1 105,649,141 (GRCm39) critical splice donor site probably null
R7534:Relch UTSW 1 105,668,748 (GRCm39) missense probably benign 0.01
R7740:Relch UTSW 1 105,658,986 (GRCm39) missense probably damaging 1.00
R8036:Relch UTSW 1 105,605,902 (GRCm39) missense probably damaging 1.00
R8234:Relch UTSW 1 105,681,235 (GRCm39) missense possibly damaging 0.93
R8797:Relch UTSW 1 105,678,121 (GRCm39) missense possibly damaging 0.54
R8819:Relch UTSW 1 105,654,179 (GRCm39) missense possibly damaging 0.91
R8820:Relch UTSW 1 105,654,179 (GRCm39) missense possibly damaging 0.91
R8880:Relch UTSW 1 105,592,220 (GRCm39) missense probably damaging 0.99
R9173:Relch UTSW 1 105,678,128 (GRCm39) missense probably benign
R9229:Relch UTSW 1 105,614,709 (GRCm39) missense possibly damaging 0.95
R9307:Relch UTSW 1 105,615,077 (GRCm39) missense probably benign 0.02
R9334:Relch UTSW 1 105,654,179 (GRCm39) missense possibly damaging 0.91
R9412:Relch UTSW 1 105,662,288 (GRCm39) missense probably benign 0.09
R9467:Relch UTSW 1 105,669,039 (GRCm39) missense probably damaging 0.99
R9509:Relch UTSW 1 105,614,704 (GRCm39) missense probably damaging 1.00
R9562:Relch UTSW 1 105,591,876 (GRCm39) missense probably damaging 0.99
R9565:Relch UTSW 1 105,591,876 (GRCm39) missense probably damaging 0.99
Z1176:Relch UTSW 1 105,647,340 (GRCm39) missense probably benign 0.14
Posted On 2016-08-02