Incidental Mutation 'R7534:Relch'
ID 583436
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 045606-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R7534 (G1)
Quality Score 108.008
Status Validated
Chromosome 1
Chromosomal Location 105591570-105682856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105668748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 993 (R993Q)
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 probably benign
Transcript: ENSMUST00000039173
SMART Domains Protein: ENSMUSP00000039178
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
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 benign
Transcript: ENSMUST00000086721
AA Change: R993Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: R993Q

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 probably benign
Transcript: ENSMUST00000190501
SMART Domains Protein: ENSMUSP00000141162
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
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 A C 17: 35,390,390 (GRCm39) M120R possibly damaging Het
Ank2 T C 3: 126,727,982 (GRCm39) probably null Het
Ankrd11 A T 8: 123,621,149 (GRCm39) I901N probably damaging Het
Apc T C 18: 34,450,015 (GRCm39) S2304P probably damaging Het
AW551984 A T 9: 39,502,777 (GRCm39) C632S probably benign Het
Bicra T C 7: 15,705,860 (GRCm39) N1527S probably damaging Het
Cacna1d A G 14: 29,801,319 (GRCm39) L1363P probably damaging Het
Cacna1g G A 11: 94,301,904 (GRCm39) P2037S probably benign Het
Cdc27 A G 11: 104,399,240 (GRCm39) L724S probably damaging Het
Cttnbp2 C T 6: 18,420,764 (GRCm39) probably null Het
Dchs1 G A 7: 105,421,580 (GRCm39) A280V probably benign Het
Dclk3 G A 9: 111,297,286 (GRCm39) G277R probably benign Het
Ddr1 A G 17: 35,993,514 (GRCm39) probably null Het
Dnah7c A C 1: 46,809,227 (GRCm39) D3515A probably damaging Het
Elovl4 G A 9: 83,672,172 (GRCm39) T49M probably damaging Het
Fam13b A T 18: 34,631,060 (GRCm39) F40I probably damaging Het
Fancd2os T C 6: 113,574,601 (GRCm39) H135R probably benign Het
Fer1l6 A G 15: 58,509,875 (GRCm39) I1446V probably damaging Het
Fyb2 T A 4: 104,856,545 (GRCm39) Y584* probably null Het
Galnt16 A T 12: 80,643,909 (GRCm39) L442F probably damaging Het
Garem1 T A 18: 21,432,973 (GRCm39) probably benign Het
Ggta1 C T 2: 35,292,440 (GRCm39) R289Q probably damaging Het
Gm11564 T C 11: 99,706,347 (GRCm39) T28A unknown Het
Hcn1 A G 13: 118,111,961 (GRCm39) T642A unknown Het
Hhat A T 1: 192,408,612 (GRCm39) L173H probably damaging Het
Hook1 T G 4: 95,905,834 (GRCm39) I585S probably benign Het
Ighg1 A T 12: 113,293,349 (GRCm39) S114T Het
Kmt2d G A 15: 98,749,899 (GRCm39) P2598L unknown Het
Macc1 A T 12: 119,411,254 (GRCm39) H674L probably benign Het
Mypn T C 10: 63,028,910 (GRCm39) E51G probably benign Het
Or2n1 T A 17: 38,486,188 (GRCm39) M71K probably benign Het
Or7e170 A G 9: 19,795,472 (GRCm39) V43A probably benign Het
Or9g3 A C 2: 85,589,803 (GRCm39) L306V probably benign Het
Pnliprp2 T A 19: 58,763,574 (GRCm39) S408T probably benign Het
Ppara A C 15: 85,661,927 (GRCm39) Y56S probably benign Het
Ppp1r1a A G 15: 103,440,816 (GRCm39) C114R probably benign Het
Pycard C T 7: 127,592,657 (GRCm39) V57I probably damaging Het
Rin3 T G 12: 102,317,200 (GRCm39) Y143D unknown Het
Slc12a7 A G 13: 73,912,187 (GRCm39) probably benign Het
Slitrk3 C T 3: 72,957,440 (GRCm39) R444H probably damaging Het
Ttf2 C T 3: 100,857,728 (GRCm39) probably null Het
Ufsp2 T A 8: 46,433,361 (GRCm39) I25N probably benign Het
Uqcrc2 A G 7: 120,240,912 (GRCm39) T115A possibly damaging Het
Vmn2r43 T A 7: 8,258,230 (GRCm39) R328* probably null Het
Vmn2r8 T A 5: 108,950,040 (GRCm39) Y269F possibly damaging Het
Zbtb5 T C 4: 44,995,030 (GRCm39) Y118C probably damaging Het
Zeb1 T C 18: 5,766,611 (GRCm39) V374A 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
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'- AGCCAAGAAAGGATGCTCTGC -3'
(R):5'- TCCCACATTAGTCTCTAGCAATG -3'

Sequencing Primer
(F):5'- GATGCTCTGCTAATCTCACTAACAGG -3'
(R):5'- TTAGTCTCTAGCAATGACAGTTAAAC -3'
Posted On 2019-10-17