Incidental Mutation 'R5435:Relch'
ID 428240
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 043000-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R5435 (G1)
Quality Score 120
Status Validated
Chromosome 1
Chromosomal Location 105591570-105682856 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 105668975 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 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
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 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 noncoding transcript
Transcript: ENSMUST00000191293
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,413 (GRCm39) F851L probably benign Het
Abca17 C T 17: 24,486,588 (GRCm39) V1480I possibly damaging Het
Acsbg1 G T 9: 54,523,153 (GRCm39) Y491* probably null Het
Acsf3 T A 8: 123,507,020 (GRCm39) N104K probably damaging Het
Adam23 T C 1: 63,585,612 (GRCm39) Y400H possibly damaging Het
Adgra3 G A 5: 50,147,468 (GRCm39) T524M probably damaging Het
Aff1 G A 5: 103,902,198 (GRCm39) probably benign Het
Anxa9 T C 3: 95,204,561 (GRCm39) Y321C probably damaging Het
Ap1g1 T A 8: 110,565,552 (GRCm39) Y329N probably damaging Het
Aph1c A T 9: 66,741,783 (GRCm39) I33N possibly damaging Het
B3galnt2 A G 13: 14,171,575 (GRCm39) E491G probably benign Het
Bdh1 C T 16: 31,275,475 (GRCm39) R235C probably damaging Het
Ccar2 A G 14: 70,376,776 (GRCm39) L856P probably damaging Het
Ccdc107 A T 4: 43,493,519 (GRCm39) D30V probably damaging Het
Ccdc116 G T 16: 16,960,626 (GRCm39) H64N probably benign Het
Ccl12 T C 11: 81,994,001 (GRCm39) I86T possibly damaging Het
Col2a1 T C 15: 97,898,391 (GRCm39) probably benign Het
Col4a4 T A 1: 82,431,728 (GRCm39) I1519F unknown Het
Ddx19b T C 8: 111,735,458 (GRCm39) Q416R possibly damaging Het
Dnah6 T A 6: 73,037,121 (GRCm39) M3374L probably benign Het
Dnajc6 A T 4: 101,463,807 (GRCm39) I119F probably damaging Het
Ensa C A 3: 95,529,769 (GRCm39) probably benign Het
Fbxo4 C T 15: 3,995,274 (GRCm39) V357I possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxf1 G A 8: 121,811,231 (GRCm39) G32S probably damaging Het
Gls2 G A 10: 128,030,995 (GRCm39) probably benign Het
Gm13599 T A 2: 67,226,496 (GRCm39) noncoding transcript Het
Gmnn A G 13: 24,936,084 (GRCm39) S197P probably benign Het
Guf1 A T 5: 69,720,512 (GRCm39) H324L probably benign Het
H2-Q6 A G 17: 35,644,661 (GRCm39) D150G probably damaging Het
Herc3 T A 6: 58,832,791 (GRCm39) L152Q probably damaging Het
Hnrnpul2 T G 19: 8,797,682 (GRCm39) S13A probably benign Het
Ighv5-4 A G 12: 113,561,283 (GRCm39) F46L probably benign Het
Kank1 T G 19: 25,388,507 (GRCm39) S727A probably benign Het
Kcnma1 A T 14: 23,578,472 (GRCm39) Y201* probably null Het
Lyst A T 13: 13,951,649 (GRCm39) H3750L possibly damaging Het
Mettl25 A G 10: 105,615,447 (GRCm39) probably null Het
Mpdz A G 4: 81,201,724 (GRCm39) probably benign Het
Myh9 C T 15: 77,653,809 (GRCm39) V1280I probably benign Het
Neto1 A T 18: 86,416,388 (GRCm39) T32S probably benign Het
Nol7 C A 13: 43,554,848 (GRCm39) H187Q possibly damaging Het
Or5ak22 T A 2: 85,230,814 (GRCm39) N21I probably benign Het
Pcdha8 A G 18: 37,126,652 (GRCm39) D378G probably damaging Het
Peak1 A G 9: 56,113,770 (GRCm39) S694P probably damaging Het
Pih1d1 T A 7: 44,805,696 (GRCm39) probably null Het
Pik3c2g T G 6: 139,661,581 (GRCm39) probably null Het
Prkar2a A G 9: 108,617,682 (GRCm39) R247G probably damaging Het
Psg26 A G 7: 18,212,398 (GRCm39) I319T possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rasa3 T C 8: 13,681,811 (GRCm39) E46G possibly damaging Het
Rbbp5 T A 1: 132,422,013 (GRCm39) H304Q probably damaging Het
Scn1a T A 2: 66,103,878 (GRCm39) E1783V probably damaging Het
Stag1 A G 9: 100,835,603 (GRCm39) N151S probably benign Het
Tbc1d32 C A 10: 55,916,246 (GRCm39) A1191S probably damaging Het
Tchh C A 3: 93,350,979 (GRCm39) R140S possibly damaging Het
Trank1 A G 9: 111,220,958 (GRCm39) Y2565C probably benign Het
Ttn A T 2: 76,744,702 (GRCm39) V5449D probably damaging Het
Tubgcp2 G A 7: 139,575,985 (GRCm39) P893S possibly damaging Het
Wdfy4 A G 14: 32,742,268 (GRCm39) F2325S probably damaging Het
Wdr35 A G 12: 9,039,951 (GRCm39) D352G probably benign Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Ypel3 A G 7: 126,374,960 (GRCm39) probably benign Het
Zan T A 5: 137,402,024 (GRCm39) T4023S unknown Het
Zfp735 T A 11: 73,602,939 (GRCm39) C628S 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
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'- CTTCGAGGCATGAGTGAAGC -3'
(R):5'- TGTCATCAGAAATCTGTCATCACC -3'

Sequencing Primer
(F):5'- CATTAGTTGACAAGCGGGTTGC -3'
(R):5'- TCAGAAATCTGTCATCACCACTGG -3'
Posted On 2016-09-01