Incidental Mutation 'R6266:Relch'
ID 506986
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 044378-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R6266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 105591570-105682856 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 105659007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
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 null
Transcript: ENSMUST00000086721
SMART Domains Protein: ENSMUSP00000083926
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 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 noncoding transcript
Transcript: ENSMUST00000185750
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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191293
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,320,206 (GRCm39) T295A probably benign Het
Aldh2 C A 5: 121,706,997 (GRCm39) V217L probably damaging Het
Arap3 G A 18: 38,123,844 (GRCm39) R392C probably damaging Het
Aurkaip1 T G 4: 155,916,977 (GRCm39) L75R probably damaging Het
Blm C A 7: 80,149,688 (GRCm39) K640N probably benign Het
Brap A T 5: 121,823,328 (GRCm39) T487S probably benign Het
Ccser2 G A 14: 36,601,632 (GRCm39) P276L probably damaging Het
Cdc42bpg A G 19: 6,361,503 (GRCm39) E343G probably damaging Het
Cecr2 A G 6: 120,738,647 (GRCm39) S1097G probably benign Het
D7Ertd443e A T 7: 133,951,514 (GRCm39) V53D probably damaging Het
Ddx3y G A Y: 1,266,635 (GRCm39) T274I probably damaging Homo
Dnah5 T A 15: 28,335,773 (GRCm39) F2246L possibly damaging Het
Dock3 T A 9: 106,841,952 (GRCm39) H959L probably damaging Het
Dpy19l1 A G 9: 24,350,442 (GRCm39) S406P probably damaging Het
Efcab8 T C 2: 153,625,688 (GRCm39) L116P probably damaging Het
Efnb2 T C 8: 8,710,524 (GRCm39) I31V probably benign Het
Fbxl12 A T 9: 20,549,911 (GRCm39) L271Q probably damaging Het
Fmn1 T A 2: 113,426,683 (GRCm39) N1133K probably damaging Het
Frmpd2 T C 14: 33,287,864 (GRCm39) S1219P probably benign Het
Gm7298 A T 6: 121,759,663 (GRCm39) R1187S probably damaging Het
H6pd T C 4: 150,080,414 (GRCm39) I136V probably benign Het
Hyal2 A G 9: 107,447,914 (GRCm39) N189S probably benign Het
Jmjd1c C T 10: 67,085,439 (GRCm39) P2410S probably damaging Het
Larp1 A G 11: 57,933,089 (GRCm39) D231G probably damaging Het
Lilra5 T A 7: 4,244,927 (GRCm39) S233T possibly damaging Het
Lrrc43 T C 5: 123,641,340 (GRCm39) F508S probably damaging Het
Marchf4 T C 1: 72,491,647 (GRCm39) Y208C probably damaging Het
Mtarc2 T C 1: 184,566,140 (GRCm39) R85G probably damaging Het
Nr1h2 A T 7: 44,201,476 (GRCm39) C45* probably null Het
Or10ag2 T A 2: 87,249,350 (GRCm39) S319R probably benign Het
Or2n1e A G 17: 38,586,039 (GRCm39) I126V probably benign Het
Ppp2r5d G T 17: 46,996,629 (GRCm39) probably null Het
Prpf40a A T 2: 53,046,639 (GRCm39) S324T probably benign Het
Psmb7 T C 2: 38,530,199 (GRCm39) D94G probably damaging Het
Psmd11 A G 11: 80,336,767 (GRCm39) T140A probably benign Het
Pygm T C 19: 6,448,169 (GRCm39) I737T probably damaging Het
Rbp3 G A 14: 33,676,418 (GRCm39) R122H probably benign Het
Rrp8 T C 7: 105,385,596 (GRCm39) E3G probably damaging Het
Sacm1l T C 9: 123,371,485 (GRCm39) S37P probably damaging Het
Slc12a3 A G 8: 95,085,099 (GRCm39) R939G possibly damaging Het
Slc20a1 T C 2: 129,051,814 (GRCm39) S608P possibly damaging Het
Sntg1 T C 1: 8,624,953 (GRCm39) Q281R possibly damaging Het
Spata31d1e C T 13: 59,890,126 (GRCm39) V147I probably benign Het
Tefm A G 11: 80,028,814 (GRCm39) L194P probably damaging Het
Terf2ip T A 8: 112,738,547 (GRCm39) V145E probably damaging Het
Tmem231 T A 8: 112,641,897 (GRCm39) E219V probably null Het
Tmx3 T A 18: 90,555,334 (GRCm39) probably null Het
Tns3 G A 11: 8,442,987 (GRCm39) P459S probably damaging Het
Trav13d-1 T A 14: 53,089,220 (GRCm39) S76R probably benign Het
Trp63 A G 16: 25,681,210 (GRCm39) N254S probably damaging Het
Tsen34 A G 7: 3,696,984 (GRCm39) probably benign Het
Unc13d A G 11: 115,959,064 (GRCm39) V701A probably damaging Het
Usp36 A G 11: 118,159,411 (GRCm39) S513P probably damaging Het
Uspl1 T A 5: 149,141,176 (GRCm39) S392T probably damaging Het
Vmn2r102 T A 17: 19,899,007 (GRCm39) C450S probably benign Het
Zfp128 T C 7: 12,624,897 (GRCm39) Y422H possibly damaging Het
Zkscan7 C T 9: 122,724,299 (GRCm39) Q423* probably null 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
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'- GTGTGTGCTAATGCCACTTCAG -3'
(R):5'- AGACAAGCTGACTGCAGAATC -3'

Sequencing Primer
(F):5'- GCCACTTCAGAAGTATTAAGTTGTGG -3'
(R):5'- TGACTGCAGAATCATAAACCAATGG -3'
Posted On 2018-03-15