Incidental Mutation 'R5878:Relch'
ID 455634
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 044084-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R5878 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 105591570-105682856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105620685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 387 (S387T)
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
AA Change: S411T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: S411T

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: S411T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: S411T

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
AA Change: S387T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: S387T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,385,792 (GRCm39) N275K possibly damaging Het
Abhd6 G A 14: 8,028,286 (GRCm38) V6I probably benign Het
Afap1l2 T C 19: 56,904,107 (GRCm39) T727A probably benign Het
Aggf1 T C 13: 95,506,065 (GRCm39) E174G probably benign Het
Ahnak T G 19: 8,985,706 (GRCm39) L2330R probably damaging Het
Arb2a T A 13: 78,100,186 (GRCm39) V129E probably damaging Het
Arfgef2 A G 2: 166,712,137 (GRCm39) T1205A probably benign Het
Ccdc3 T C 2: 5,233,827 (GRCm39) L217P probably benign Het
Cfap54 T C 10: 92,800,423 (GRCm39) D1595G probably benign Het
Cps1 G T 1: 67,197,037 (GRCm39) probably null Het
Fam120b A G 17: 15,622,502 (GRCm39) D160G probably damaging Het
Fezf1 C A 6: 23,247,580 (GRCm39) R165L possibly damaging Het
Fkbp15 A T 4: 62,225,145 (GRCm39) L838H probably benign Het
Frmd3 G A 4: 74,071,847 (GRCm39) G243D probably damaging Het
Gldc A T 19: 30,120,867 (GRCm39) probably null Het
Gm10188 T C 1: 132,156,940 (GRCm39) probably benign Het
Gm5190 T A 12: 113,360,859 (GRCm39) noncoding transcript Het
Gria1 T C 11: 57,208,628 (GRCm39) probably null Het
Hdhd5 A G 6: 120,491,485 (GRCm39) L206P probably damaging Het
Herc2 A G 7: 55,773,996 (GRCm39) N1149S probably benign Het
Inca1 G A 11: 70,586,808 (GRCm39) probably benign Het
Iqch G A 9: 63,455,272 (GRCm39) S175F probably damaging Het
Itpr3 T G 17: 27,329,836 (GRCm39) D1543E probably benign Het
Khk T A 5: 31,088,219 (GRCm39) probably null Het
Kiz C T 2: 146,731,521 (GRCm39) S337L probably damaging Het
Lzts3 G A 2: 130,478,459 (GRCm39) T213I probably damaging Het
Mab21l2 T A 3: 86,454,025 (GRCm39) D325V probably damaging Het
Mctp2 A G 7: 71,863,856 (GRCm39) S336P probably benign Het
Me3 T A 7: 89,497,214 (GRCm39) L405Q probably benign Het
Mgst2 A T 3: 51,568,651 (GRCm39) probably benign Het
Myh2 A G 11: 67,083,330 (GRCm39) E1431G probably damaging Het
Naip6 A G 13: 100,436,181 (GRCm39) S781P probably damaging Het
Nr3c2 A G 8: 77,634,897 (GRCm39) probably null Het
Or10ab5 A T 7: 108,244,946 (GRCm39) L279Q probably damaging Het
Or6s1 A G 14: 51,308,449 (GRCm39) Y134H probably damaging Het
Or6x1 C T 9: 40,098,867 (GRCm39) T152I probably benign Het
Otop1 G T 5: 38,435,166 (GRCm39) R132L possibly damaging Het
Parg T A 14: 31,939,619 (GRCm39) D548E possibly damaging Het
Pcdhga4 G T 18: 37,820,739 (GRCm39) G763W probably benign Het
Pde10a A G 17: 9,168,204 (GRCm39) N9S possibly damaging Het
Pi4k2a T C 19: 42,089,080 (GRCm39) I147T probably benign Het
Polh T A 17: 46,505,251 (GRCm39) T122S probably damaging Het
Ptpn13 T C 5: 103,624,984 (GRCm39) V96A possibly damaging Het
Ptpn6 C A 6: 124,705,748 (GRCm39) C132F probably damaging Het
Rbm19 T A 5: 120,270,932 (GRCm39) V585E probably damaging Het
Rp1l1 C T 14: 64,266,355 (GRCm39) P647L probably benign Het
Rrp1b A G 17: 32,266,649 (GRCm39) E72G probably damaging Het
Shcbp1 A T 8: 4,798,742 (GRCm39) H392Q probably benign Het
Skic2 C T 17: 35,065,093 (GRCm39) R371Q possibly damaging Het
Slc13a5 G A 11: 72,144,217 (GRCm39) T287I possibly damaging Het
Slc22a27 T A 19: 7,904,122 (GRCm39) E5V probably benign Het
Slc38a2 A G 15: 96,590,465 (GRCm39) V293A probably damaging Het
Slco6d1 T A 1: 98,391,561 (GRCm39) probably benign Het
Sri G C 5: 8,109,353 (GRCm39) D46H probably damaging Het
Tango6 A G 8: 107,415,800 (GRCm39) D207G possibly damaging Het
Tigd4 T C 3: 84,501,749 (GRCm39) M222T probably benign Het
Tmem229a T C 6: 24,955,172 (GRCm39) D194G probably benign Het
Trank1 T C 9: 111,195,753 (GRCm39) V1259A possibly damaging Het
Trdv5 T C 14: 54,386,255 (GRCm39) D70G probably benign Het
Trim52 T A 14: 106,344,375 (GRCm39) M11K probably damaging Het
Wdr62 A G 7: 29,940,772 (GRCm39) M882T probably benign Het
Ybx3 A G 6: 131,344,726 (GRCm39) probably null Het
Zfand2b A G 1: 75,147,154 (GRCm39) probably benign Het
Zfp91 T A 19: 12,747,684 (GRCm39) T480S 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
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
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'- AGGAAGCTTTAGTGACTCTTGTGC -3'
(R):5'- AGAAGGTGGCAGCTCTTCTC -3'

Sequencing Primer
(F):5'- AGTGACTCTTGTGCAGAAGATCC -3'
(R):5'- AAGGTGGCAGCTCTTCTCTTTCC -3'
Posted On 2017-02-10