Incidental Mutation 'R0022:Relch'
ID 212514
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 038317-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R0022 (G1)
Quality Score 67
Status Validated
Chromosome 1
Chromosomal Location 105591570-105682856 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 105619627 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: ENSMUST00000189091
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191293
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.8%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,587,485 (GRCm39) probably null Het
Arhgap29 G A 3: 121,782,586 (GRCm39) V91I possibly damaging Het
Aste1 T A 9: 105,273,823 (GRCm39) L21* probably null Het
Bpifb5 A T 2: 154,072,268 (GRCm39) D325V probably damaging Het
Btbd10 G A 7: 112,924,988 (GRCm39) Q287* probably null Het
Cdc20 T A 4: 118,292,686 (GRCm39) H354L probably damaging Het
Cdhr3 G A 12: 33,132,263 (GRCm39) T120I probably damaging Het
Col5a2 G A 1: 45,422,843 (GRCm39) R1125* probably null Het
Col9a3 A G 2: 180,261,549 (GRCm39) D613G probably damaging Het
Coro7 C T 16: 4,451,168 (GRCm39) R507H probably benign Het
Cracdl C T 1: 37,667,326 (GRCm39) R240Q probably damaging Het
Crebbp A T 16: 3,903,092 (GRCm39) V2049E probably damaging Het
Cryga T C 1: 65,142,382 (GRCm39) I4V probably damaging Het
D930020B18Rik A G 10: 121,507,675 (GRCm39) T138A probably damaging Het
Dclre1b G T 3: 103,710,464 (GRCm39) H482Q probably benign Het
Dpy19l2 A G 9: 24,607,420 (GRCm39) S14P probably benign Het
Elavl3 C A 9: 21,948,167 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,503 (GRCm39) V220A probably damaging Het
Exoc7 A T 11: 116,188,408 (GRCm39) I297N possibly damaging Het
Gdpd4 A T 7: 97,632,082 (GRCm39) N332Y probably damaging Het
Ggct C A 6: 54,962,887 (GRCm39) E175* probably null Het
Gm5316 T C 6: 122,877,354 (GRCm39) noncoding transcript Het
Hoxa7 T C 6: 52,194,363 (GRCm39) N8S probably damaging Het
Ifi208 A G 1: 173,510,612 (GRCm39) T256A possibly damaging Het
Il12rb2 A G 6: 67,275,903 (GRCm39) F630S probably damaging Het
Kit A G 5: 75,783,657 (GRCm39) N378S probably benign Het
Lmntd1 T A 6: 145,375,716 (GRCm39) Y74F probably benign Het
Lrp1b A T 2: 40,888,050 (GRCm39) probably benign Het
Ltbp1 T A 17: 75,671,355 (GRCm39) V1194D probably damaging Het
Mc5r T G 18: 68,471,853 (GRCm39) S71A probably benign Het
Mcm7 T C 5: 138,162,981 (GRCm39) *390W probably null Het
Myo18a T C 11: 77,734,059 (GRCm39) probably null Het
Naa25 C A 5: 121,556,039 (GRCm39) L276M probably damaging Het
Nlrp1a T G 11: 71,014,207 (GRCm39) T348P probably damaging Het
Nlrp1b T G 11: 71,052,755 (GRCm39) K888T possibly damaging Het
Or4f53 A G 2: 111,087,994 (GRCm39) Y178C probably benign Het
Pabpc6 A T 17: 9,888,145 (GRCm39) N135K probably benign Het
Pdzd2 G A 15: 12,371,691 (GRCm39) A2568V possibly damaging Het
Pik3r2 A G 8: 71,223,545 (GRCm39) F346S probably damaging Het
Pkd1 T C 17: 24,813,793 (GRCm39) W4086R probably damaging Het
Plekhb2 G A 1: 34,905,320 (GRCm39) probably benign Het
Plxnb2 A G 15: 89,047,479 (GRCm39) probably null Het
Pmfbp1 C T 8: 110,252,039 (GRCm39) R395W probably damaging Het
Pnldc1 A G 17: 13,109,006 (GRCm39) Y497H probably damaging Het
Ppp1ca T G 19: 4,244,580 (GRCm39) V213G possibly damaging Het
Rapgef2 G A 3: 78,995,207 (GRCm39) R814C probably damaging Het
Rnasel A T 1: 153,636,521 (GRCm39) I634F probably damaging Het
Rnf157 A T 11: 116,240,276 (GRCm39) probably benign Het
Ryr3 A G 2: 112,471,011 (GRCm39) S4567P probably damaging Het
Smcr8 T A 11: 60,671,185 (GRCm39) W778R probably damaging Het
Stat1 T A 1: 52,179,789 (GRCm39) L333Q probably damaging Het
Strc A G 2: 121,198,874 (GRCm39) L1391P probably damaging Het
Tek G A 4: 94,725,509 (GRCm39) V592M probably damaging Het
Top1 A C 2: 160,544,719 (GRCm39) K278N possibly damaging Het
Utrn C T 10: 12,585,700 (GRCm39) probably benign Het
Wdr7 T C 18: 63,910,705 (GRCm39) I699T probably damaging Het
Zfp30 A G 7: 29,491,860 (GRCm39) E119G 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
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
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'- agctccatcccagtccATCTTTGATA -3'
(R):5'- CGTTGCCTAAAATTGGTGTAAGAGCCT -3'

Sequencing Primer
(F):5'- cctctgcctcctttgtcc -3'
(R):5'- GGTGTAAGAGCCTCTAATTCATCTTC -3'
Posted On 2014-07-08