Incidental Mutation 'R8819:Relch'
ID 672904
Institutional Source Beutler Lab
Gene Symbol Relch
Ensembl Gene ENSMUSG00000026319
Gene Name RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing
Synonyms 2310035C23Rik
MMRRC Submission 068652-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R8819 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 105591570-105682856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105654179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 873 (F873L)
Ref Sequence ENSEMBL: ENSMUSP00000039178 (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: F873L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: F873L

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: F873L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: F873L

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 possibly damaging
Transcript: ENSMUST00000190501
AA Change: F849L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: F849L

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
Meta Mutation Damage Score 0.2615 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,547,576 (GRCm39) L266P probably damaging Het
Als2cl T C 9: 110,714,855 (GRCm39) F125L probably benign Het
Arhgap33 T C 7: 30,228,165 (GRCm39) I406V probably benign Het
Bag5 T C 12: 111,677,709 (GRCm39) N38S probably benign Het
Clk2 T A 3: 89,082,730 (GRCm39) M392K probably damaging Het
Cngb1 C T 8: 95,980,037 (GRCm39) probably null Het
Cps1 T A 1: 67,267,439 (GRCm39) N1402K possibly damaging Het
Cracd CTGAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAG C 5: 77,004,793 (GRCm39) probably benign Het
Cyp2u1 T C 3: 131,092,016 (GRCm39) H168R probably damaging Het
Dapl1 T C 2: 59,335,056 (GRCm39) L70P probably damaging Het
Ddr2 T A 1: 169,805,483 (GRCm39) K836* probably null Het
Dnmbp C T 19: 43,889,854 (GRCm39) V638M probably benign Het
Dsel A G 1: 111,787,994 (GRCm39) L847P probably benign Het
Eef1b2 T C 1: 63,217,268 (GRCm39) probably benign Het
Eif1ad8 C T 12: 87,563,910 (GRCm39) R82* probably null Het
Fbll1 T C 11: 35,688,802 (GRCm39) K154E probably benign Het
Fbxw17 A T 13: 50,587,351 (GRCm39) K437M possibly damaging Het
Fktn T C 4: 53,735,001 (GRCm39) V174A possibly damaging Het
Frem1 C A 4: 82,821,754 (GRCm39) S2118I probably damaging Het
Gabrb3 T C 7: 57,442,329 (GRCm39) S212P probably damaging Het
Gimap9 A G 6: 48,654,821 (GRCm39) D136G probably benign Het
Hps1 T C 19: 42,759,648 (GRCm39) I55V probably benign Het
Huwe1 A G X: 150,669,993 (GRCm39) K1482R probably benign Het
Ift46 C T 9: 44,701,819 (GRCm39) T283I probably damaging Het
Ldb2 G A 5: 44,956,757 (GRCm39) Q27* probably null Het
Lmcd1 T A 6: 112,306,770 (GRCm39) I314N probably damaging Het
Lypd9 T G 11: 58,337,129 (GRCm39) S115R probably damaging Het
Mctp2 C A 7: 71,879,081 (GRCm39) V259L probably benign Het
Midn T G 10: 79,990,234 (GRCm39) S302A probably damaging Het
Ncor2 A G 5: 125,106,291 (GRCm39) V797A Het
Npm2 A G 14: 70,885,768 (GRCm39) S146P probably damaging Het
Npr1 G A 3: 90,372,201 (GRCm39) R204C probably damaging Het
Or2w2 G A 13: 21,757,999 (GRCm39) S209L probably benign Het
Or52n3 T A 7: 104,530,862 (GRCm39) V316D possibly damaging Het
Or6e1 C T 14: 54,520,070 (GRCm39) G94D probably benign Het
Paip2b A C 6: 83,791,738 (GRCm39) M48R probably damaging Het
Pcsk2 T A 2: 143,642,990 (GRCm39) H422Q probably damaging Het
Pdzph1 G C 17: 59,187,715 (GRCm39) Y1168* probably null Het
Peli2 G A 14: 48,490,130 (GRCm39) E201K possibly damaging Het
Prelp T C 1: 133,842,878 (GRCm39) N89S probably damaging Het
Rapgef3 T C 15: 97,646,538 (GRCm39) N799S probably benign Het
Rel C T 11: 23,695,626 (GRCm39) R219H probably damaging Het
Rimbp3 T C 16: 17,028,771 (GRCm39) S732P probably benign Het
Rock1 A G 18: 10,070,626 (GRCm39) F1196S probably damaging Het
Ryr3 A G 2: 112,690,069 (GRCm39) V1180A probably benign Het
Ryr3 G A 2: 112,466,137 (GRCm39) R4795W probably damaging Het
Scn11a T C 9: 119,645,586 (GRCm39) I123V probably benign Het
Sema4b G C 7: 79,870,248 (GRCm39) E475D probably damaging Het
Serinc2 C A 4: 130,149,172 (GRCm39) M343I probably damaging Het
Serinc5 G T 13: 92,844,544 (GRCm39) V429F probably benign Het
Tnfsf10 G A 3: 27,389,451 (GRCm39) V171M probably benign Het
Zfp27 T C 7: 29,594,013 (GRCm39) K651E probably benign Het
Zfp438 A G 18: 5,213,383 (GRCm39) I525T 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
IGL02992:Relch APN 1 105,647,189 (GRCm39) missense possibly damaging 0.89
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
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
Predicted Primers PCR Primer
(F):5'- CCGTTGCAGGCAGATTATGG -3'
(R):5'- GCCTATGGTAAAAGCCTTTGATAG -3'

Sequencing Primer
(F):5'- GGAGACAGTCATTTACATGTGCCC -3'
(R):5'- AAGCCTTTGATAGATTTACTGTGGC -3'
Posted On 2021-04-30