Incidental Mutation 'R1243:Relch'
ID 152052
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 039310-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R1243 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 105591570-105682856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105678089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1114 (L1114P)
Ref Sequence ENSEMBL: ENSMUSP00000141162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039173] [ENSMUST00000086721] [ENSMUST00000186807] [ENSMUST00000190501]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039173
AA Change: L1138P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: L1138P

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 probably damaging
Transcript: ENSMUST00000086721
AA Change: L1138P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: L1138P

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: ENSMUST00000188588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190459
Predicted Effect probably damaging
Transcript: ENSMUST00000190501
AA Change: L1114P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: L1114P

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajm1 C T 2: 25,468,570 (GRCm39) R447Q possibly damaging Het
Casp8ap2 A G 4: 32,645,687 (GRCm39) S1587G probably benign Het
Cyp24a1 T C 2: 170,337,326 (GRCm39) E154G probably benign Het
Disp2 C T 2: 118,622,303 (GRCm39) R1012C probably damaging Het
Dync2h1 A G 9: 7,120,882 (GRCm39) L2135P probably benign Het
Epb41l2 A G 10: 25,364,941 (GRCm39) R578G possibly damaging Het
Mus81 G C 19: 5,535,145 (GRCm39) R295G probably benign Het
Myh3 T C 11: 66,981,279 (GRCm39) I714T possibly damaging Het
Myof A G 19: 37,924,540 (GRCm39) L1251P probably damaging Het
Nos1 A G 5: 118,043,537 (GRCm39) Y604C probably damaging Het
Or5ak22 T C 2: 85,230,617 (GRCm39) S87G probably benign Het
Pappa2 T A 1: 158,672,670 (GRCm39) Q1091L probably damaging Het
Pdia4 C T 6: 47,784,054 (GRCm39) D117N probably damaging Het
Slc34a1 G A 13: 55,559,944 (GRCm39) A304T possibly damaging Het
Vmn2r98 A T 17: 19,286,210 (GRCm39) E236V possibly damaging Het
Zfp956 A G 6: 47,932,985 (GRCm39) T87A probably 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
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
Predicted Primers PCR Primer
(F):5'- GACACATGCTGTTTGCTGTGCC -3'
(R):5'- ATGTGCCAAGAGTGTGACAGTCAG -3'

Sequencing Primer
(F):5'- TGCTGTGCCTAAGCACTATC -3'
(R):5'- GTGGATTGAAGTCAATATCCCACAG -3'
Posted On 2014-01-29