Incidental Mutation 'R9334:Relch'
ID 706966
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R9334 (G1)
Quality Score 225.009
Status Not 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: 99.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b A T 1: 36,739,251 (GRCm39) I346N probably damaging Het
Adam6b A C 12: 113,454,768 (GRCm39) E528D probably damaging Het
Ang A G 14: 51,339,017 (GRCm39) M53V possibly damaging Het
Ankrd26 G A 6: 118,509,262 (GRCm39) A601V probably benign Het
Atp6v0d2 A G 4: 19,890,695 (GRCm39) L155P probably damaging Het
Cacna1a T C 8: 85,296,594 (GRCm39) V1204A probably damaging Het
Car4 A G 11: 84,855,415 (GRCm39) I183V probably benign Het
Ccdc149 G T 5: 52,578,171 (GRCm39) A87E possibly damaging Het
Ccdc88b A G 19: 6,833,541 (GRCm39) M208T possibly damaging Het
Ccnt2 T C 1: 127,723,046 (GRCm39) L162S probably damaging Het
Cd27 A G 6: 125,213,718 (GRCm39) probably null Het
Cfap44 C A 16: 44,239,654 (GRCm39) T567K probably damaging Het
Cpne5 C T 17: 29,423,673 (GRCm39) V152M probably benign Het
Cyp2u1 C T 3: 131,092,065 (GRCm39) V152M probably damaging Het
Dnajc13 A T 9: 104,051,659 (GRCm39) F1733I probably benign Het
Dop1a A G 9: 86,403,027 (GRCm39) Y1409C probably damaging Het
Ecm2 T C 13: 49,677,815 (GRCm39) M367T probably benign Het
Eif4g2 A G 7: 110,674,031 (GRCm39) S658P possibly damaging Het
Exoc3l4 T C 12: 111,397,117 (GRCm39) L666P probably damaging Het
Fbxl4 G A 4: 22,376,778 (GRCm39) M71I probably damaging Het
Fbxw10 T C 11: 62,765,910 (GRCm39) S727P possibly damaging Het
Fem1b A T 9: 62,703,604 (GRCm39) L552* probably null Het
Filip1 A T 9: 79,725,739 (GRCm39) V960D probably benign Het
Glipr1l3 A T 10: 111,979,948 (GRCm39) M198K probably benign Het
Gm19410 T A 8: 36,270,722 (GRCm39) C1216* probably null Het
Gmps T A 3: 63,889,864 (GRCm39) V81E probably damaging Het
Gpr150 G T 13: 76,204,103 (GRCm39) Q281K probably benign Het
Grsf1 A G 5: 88,820,469 (GRCm39) V221A probably damaging Het
Gsc T A 12: 104,439,353 (GRCm39) I8F probably damaging Het
Homer2 A T 7: 81,261,078 (GRCm39) C284* probably null Het
Hrg T A 16: 22,780,061 (GRCm39) H446Q unknown Het
Jag1 C T 2: 136,943,593 (GRCm39) R201H probably damaging Het
Kctd15 C T 7: 34,341,483 (GRCm39) R148H possibly damaging Het
Klhdc7a G A 4: 139,693,493 (GRCm39) R485C probably benign Het
Ldhd T A 8: 112,353,980 (GRCm39) I407F probably benign Het
Lgals12 G A 19: 7,578,086 (GRCm39) R192C probably benign Het
Lmf2 G A 15: 89,239,577 (GRCm39) L26F probably damaging Het
Lum A T 10: 97,404,347 (GRCm39) I81F probably damaging Het
Map1b G T 13: 99,568,148 (GRCm39) D1524E unknown Het
Marveld3 A G 8: 110,675,036 (GRCm39) L260S probably damaging Het
Mms19 C T 19: 41,942,203 (GRCm39) R555H probably benign Het
Mrpl37 G A 4: 106,921,605 (GRCm39) T208I probably benign Het
Mug1 A T 6: 121,838,490 (GRCm39) T498S probably benign Het
Myo3b T C 2: 70,047,360 (GRCm39) C289R probably damaging Het
Myo7a A T 7: 97,716,369 (GRCm39) F1459Y probably damaging Het
Neurl4 C A 11: 69,796,792 (GRCm39) R518S probably damaging Het
Nmnat2 T G 1: 152,949,585 (GRCm39) V43G probably damaging Het
Or2b11 T C 11: 59,462,272 (GRCm39) Y98C probably damaging Het
Or2n1b T A 17: 38,459,840 (GRCm39) F120L probably benign Het
Or6c6c A G 10: 129,541,683 (GRCm39) N312S probably benign Het
Otog A G 7: 45,909,353 (GRCm39) T608A possibly damaging Het
Pck2 G A 14: 55,785,283 (GRCm39) R482Q probably damaging Het
Pcx G A 19: 4,670,532 (GRCm39) M1013I probably benign Het
Pex13 A G 11: 23,605,630 (GRCm39) M200T probably benign Het
Pigt CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC 2: 164,349,420 (GRCm39) probably null Het
Pramel32 A T 4: 88,548,186 (GRCm39) I73K probably damaging Het
Ptpn4 T C 1: 119,730,114 (GRCm39) H26R probably benign Het
Ralgps2 T A 1: 156,715,599 (GRCm39) E72V probably damaging Het
Scube1 A T 15: 83,512,264 (GRCm39) C396S possibly damaging Het
Sec23b T A 2: 144,410,550 (GRCm39) N283K possibly damaging Het
Setx T A 2: 29,044,032 (GRCm39) Y1800* probably null Het
Sgce G T 6: 4,707,205 (GRCm39) S213R probably damaging Het
Skic3 C A 13: 76,281,076 (GRCm39) T704N possibly damaging Het
Slc36a2 T C 11: 55,075,865 (GRCm39) probably benign Het
Sult5a1 A T 8: 123,875,146 (GRCm39) D129E probably damaging Het
Tacr1 A T 6: 82,380,913 (GRCm39) H108L probably damaging Het
Tnfsf10 T A 3: 27,389,496 (GRCm39) Y186N probably damaging Het
Unc80 T C 1: 66,688,919 (GRCm39) S2428P possibly damaging Het
Vwf G A 6: 125,654,909 (GRCm39) R2535H Het
Zfp532 A G 18: 65,756,128 (GRCm39) I20M 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
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
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'- GTTGCAGGCAGATTATGGAGAC -3'
(R):5'- ACGCCTATGGTAAAAGCCTTTG -3'

Sequencing Primer
(F):5'- GGAGACAGTCATTTACATGTGCCC -3'
(R):5'- AAGCCTTTGATAGATTTACTGTGGC -3'
Posted On 2022-04-18