Incidental Mutation 'R9562:Relch'
ID 721040
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.421) question?
Stock # R9562 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 105591570-105682856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105591876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 15 (V15A)
Ref Sequence ENSEMBL: ENSMUSP00000039178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039173] [ENSMUST00000086721] [ENSMUST00000186485] [ENSMUST00000186807] [ENSMUST00000187537] [ENSMUST00000190501] [ENSMUST00000190811]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039173
AA Change: V15A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: V15A

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 damaging
Transcript: ENSMUST00000086721
AA Change: V15A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: V15A

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: ENSMUST00000186485
SMART Domains Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
Pfam:Phosphodiest 109 330 3.7e-11 PFAM
Pfam:Sulfatase 148 334 2.1e-8 PFAM
low complexity region 382 393 N/A INTRINSIC
Pfam:PigN 430 884 1.5e-141 PFAM
transmembrane domain 893 915 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186807
AA Change: V15A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140699
Gene: ENSMUSG00000026319
AA Change: V15A

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: ENSMUST00000187537
SMART Domains Protein: ENSMUSP00000140020
Gene: ENSMUSG00000056536

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Phosphodiest 46 331 1.2e-12 PFAM
Pfam:Sulfatase 146 334 2.9e-6 PFAM
low complexity region 382 393 N/A INTRINSIC
Pfam:PigN 430 800 5.9e-86 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190501
AA Change: V15A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: V15A

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: ENSMUST00000190811
SMART Domains Protein: ENSMUSP00000140844
Gene: ENSMUSG00000056536

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Phosphodiest 46 331 1.1e-12 PFAM
Pfam:Sulfatase 146 334 2.8e-6 PFAM
low complexity region 382 393 N/A INTRINSIC
Pfam:PigN 430 794 4.4e-86 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,371,397 (GRCm39) P1842Q probably damaging Het
Aco2 G A 15: 81,773,635 (GRCm39) R58Q probably null Het
Acvr1 T C 2: 58,338,385 (GRCm39) K446E probably damaging Het
Adam39 T C 8: 41,277,755 (GRCm39) Y49H probably benign Het
Afg3l2 C T 18: 67,554,365 (GRCm39) V446M probably damaging Het
Aire A G 10: 77,871,579 (GRCm39) V397A probably benign Het
Ankdd1a C T 9: 65,411,452 (GRCm39) A352T possibly damaging Het
Aoc1l2 T C 6: 48,907,909 (GRCm39) M303T probably benign Het
Arfip2 T C 7: 105,286,079 (GRCm39) D270G possibly damaging Het
Arl4c A G 1: 88,629,134 (GRCm39) C85R probably damaging Het
Arpp21 A C 9: 111,956,354 (GRCm39) V541G possibly damaging Het
Atp2a3 T A 11: 72,873,578 (GRCm39) M817K probably damaging Het
Bahcc1 C T 11: 120,150,035 (GRCm39) H106Y possibly damaging Het
Bcl9l A G 9: 44,412,076 (GRCm39) S21G possibly damaging Het
C7 T A 15: 5,086,579 (GRCm39) probably null Het
Cabcoco1 T C 10: 68,272,725 (GRCm39) D220G possibly damaging Het
Cacna1e T A 1: 154,283,486 (GRCm39) D1960V probably benign Het
Casp4 A T 9: 5,324,832 (GRCm39) T215S probably damaging Het
Ccdc187 T C 2: 26,183,698 (GRCm39) S101G possibly damaging Het
Cdk12 A G 11: 98,140,628 (GRCm39) N1290D unknown Het
Cdo1 C A 18: 46,861,104 (GRCm39) V36L probably benign Het
Col5a3 G A 9: 20,714,429 (GRCm39) A381V unknown Het
Cspg4b T C 13: 113,504,574 (GRCm39) I1901T Het
Dcpp2 A G 17: 24,119,453 (GRCm39) E89G probably damaging Het
Dhx57 G T 17: 80,561,817 (GRCm39) A899E probably damaging Het
Dnaaf1 T C 8: 120,309,392 (GRCm39) I160T probably damaging Het
Dnah1 C A 14: 30,986,394 (GRCm39) A3698S probably damaging Het
Dnah12 C A 14: 26,597,281 (GRCm39) R3547S possibly damaging Het
Dnah3 A G 7: 119,610,114 (GRCm39) V1774A probably benign Het
Dop1a G A 9: 86,424,811 (GRCm39) R2085Q probably damaging Het
Duox1 T C 2: 122,151,203 (GRCm39) Y293H probably damaging Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Elp1 G T 4: 56,772,521 (GRCm39) P867T probably benign Het
Epas1 T A 17: 87,112,667 (GRCm39) D88E probably damaging Het
Epdr1 A G 13: 19,778,821 (GRCm39) F92L possibly damaging Het
Ercc6 T C 14: 32,296,924 (GRCm39) W1305R probably damaging Het
Etv6 A G 6: 134,225,672 (GRCm39) N212S probably benign Het
Fam20b A T 1: 156,530,010 (GRCm39) Y141* probably null Het
Fancm A G 12: 65,168,494 (GRCm39) N1619S probably damaging Het
Fbln5 A T 12: 101,734,722 (GRCm39) N183K probably damaging Het
Fer1l6 A G 15: 58,490,370 (GRCm39) D976G possibly damaging Het
Fgb T C 3: 82,952,409 (GRCm39) probably null Het
Fhod1 A T 8: 106,074,422 (GRCm39) Y22N unknown Het
Foxl3 C A 5: 138,807,213 (GRCm39) Q164K probably benign Het
Galm C T 17: 80,490,859 (GRCm39) Q166* probably null Het
Gbe1 A T 16: 70,198,664 (GRCm39) Y119F probably benign Het
Gcnt7 T A 2: 172,293,180 (GRCm39) Y369F probably damaging Het
Gdap2 T C 3: 100,099,006 (GRCm39) I366T possibly damaging Het
Gm14295 T C 2: 176,499,162 (GRCm39) V4A probably benign Het
Gm32742 T A 9: 51,068,327 (GRCm39) Y249F probably benign Het
Gm40460 A T 7: 141,794,701 (GRCm39) C39S unknown Het
Gm6370 T A 5: 146,429,281 (GRCm39) C120* probably null Het
Harbi1 T A 2: 91,542,698 (GRCm39) L53* probably null Het
Herc3 A G 6: 58,835,999 (GRCm39) N280S probably null Het
Hipk2 T A 6: 38,724,390 (GRCm39) R447W probably damaging Het
Hydin A G 8: 111,312,786 (GRCm39) I4176V probably benign Het
Ifi211 A T 1: 173,733,052 (GRCm39) I203N probably benign Het
Kcnc1 G A 7: 46,077,010 (GRCm39) V271M probably benign Het
Kcng1 T A 2: 168,104,797 (GRCm39) I350F probably damaging Het
Kif21b A T 1: 136,077,090 (GRCm39) I371F probably damaging Het
Klrc1 A G 6: 129,655,746 (GRCm39) F43S probably damaging Het
Krtap6-2 A G 16: 89,216,722 (GRCm39) S82P unknown Het
Lamb1 T A 12: 31,322,492 (GRCm39) M186K probably damaging Het
Lrig2 T C 3: 104,375,924 (GRCm39) K451E possibly damaging Het
Lrrc15 G A 16: 30,093,016 (GRCm39) L108F probably damaging Het
Mark3 A G 12: 111,570,960 (GRCm39) I87V probably damaging Het
Mlh1 T C 9: 111,060,013 (GRCm39) K622E Het
Mrgprb2 G A 7: 48,202,674 (GRCm39) T17M possibly damaging Het
Msantd5f4 G T 4: 73,557,190 (GRCm39) V8F probably damaging Het
Mtmr4 C T 11: 87,493,241 (GRCm39) R225C probably damaging Het
Nfatc1 A G 18: 80,678,916 (GRCm39) L824P probably damaging Het
Nlrp4f A T 13: 65,347,053 (GRCm39) D46E probably damaging Het
Oga CTCGGGTC CTC 19: 45,743,096 (GRCm39) probably null Het
Or10h5 G T 17: 33,434,415 (GRCm39) T301N probably benign Het
Or13n4 A C 7: 106,423,020 (GRCm39) F238V probably damaging Het
Or1l4 G T 2: 37,091,575 (GRCm39) M107I probably benign Het
Or2w25 T A 11: 59,504,580 (GRCm39) N263K probably damaging Het
Or6z7 G C 7: 6,483,243 (GRCm39) A304G probably null Het
Or7e173 T A 9: 19,939,045 (GRCm39) Y63F probably damaging Het
Or8b1 G T 9: 38,400,092 (GRCm39) A256S possibly damaging Het
Otulin A G 15: 27,608,812 (GRCm39) Y244H probably damaging Het
Pabpc4 T C 4: 123,180,653 (GRCm39) I125T probably damaging Het
Parp14 A G 16: 35,677,775 (GRCm39) I731T probably benign Het
Parp8 T C 13: 117,029,631 (GRCm39) T531A probably benign Het
Parvg G T 15: 84,213,065 (GRCm39) V49L probably benign Het
Pcdha12 T C 18: 37,155,284 (GRCm39) S668P probably damaging Het
Pcdhb9 A C 18: 37,534,665 (GRCm39) N220H probably benign Het
Pcdhga4 T G 18: 37,819,527 (GRCm39) S359A probably benign Het
Pi4k2b T A 5: 52,908,799 (GRCm39) S208R probably damaging Het
Plxnb2 T C 15: 89,050,136 (GRCm39) Y487C probably damaging Het
Pm20d1 G A 1: 131,730,501 (GRCm39) V252I probably damaging Het
Pxdc1 T A 13: 34,836,258 (GRCm39) H54L probably damaging Het
Rag1 A T 2: 101,473,327 (GRCm39) V605E probably damaging Het
Rasgrf2 A T 13: 92,034,469 (GRCm39) probably null Het
Rflnb T A 11: 75,912,951 (GRCm39) T146S probably damaging Het
Rfx5 T A 3: 94,866,639 (GRCm39) L646Q unknown Het
Rnf43 A G 11: 87,618,891 (GRCm39) T81A probably benign Het
Ros1 T C 10: 51,943,170 (GRCm39) D2048G probably damaging Het
Rpl13a-ps1 T A 19: 50,018,612 (GRCm39) K188I possibly damaging Het
Rpl24 T A 16: 55,790,509 (GRCm39) S122T probably benign Het
Ryr2 G A 13: 11,760,104 (GRCm39) T1549M probably damaging Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Sec23a A T 12: 59,048,817 (GRCm39) F131I possibly damaging Het
Secisbp2 T C 13: 51,837,320 (GRCm39) I827T probably damaging Het
Serpinb6d A G 13: 33,854,756 (GRCm39) R244G probably benign Het
Skor2 C T 18: 76,946,376 (GRCm39) H33Y unknown Het
Snx17 C A 5: 31,355,088 (GRCm39) Q368K probably damaging Het
Stac T A 9: 111,401,411 (GRCm39) E345V probably benign Het
Stx4a A G 7: 127,445,375 (GRCm39) N164S possibly damaging Het
Tasor T C 14: 27,201,766 (GRCm39) probably null Het
Tbcb A T 7: 29,930,549 (GRCm39) probably null Het
Tecpr2 T C 12: 110,914,141 (GRCm39) S1151P possibly damaging Het
Timm50 A G 7: 28,007,069 (GRCm39) F202S possibly damaging Het
Tle2 A G 10: 81,417,567 (GRCm39) D244G probably benign Het
Tlr4 G A 4: 66,759,522 (GRCm39) V772I possibly damaging Het
Tmem214 G A 5: 31,027,043 (GRCm39) W11* probably null Het
Tmem241 A T 18: 12,176,356 (GRCm39) L227* probably null Het
Top2b A C 14: 16,365,718 (GRCm38) T14P probably benign Het
Trim44 T C 2: 102,187,827 (GRCm39) T309A probably benign Het
Trps1 A C 15: 50,524,657 (GRCm39) I1091S probably damaging Het
Tspan2 C A 3: 102,672,583 (GRCm39) T200K probably damaging Het
Tuba8 A G 6: 121,200,063 (GRCm39) N249S probably benign Het
Vmn1r189 A G 13: 22,286,426 (GRCm39) L137P probably damaging Het
Vmn2r29 A T 7: 7,244,855 (GRCm39) W340R probably benign Het
Vmn2r52 A C 7: 9,893,476 (GRCm39) D554E probably benign Het
Zc3h4 C G 7: 16,168,891 (GRCm39) P1075R unknown Het
Zfp599 A G 9: 22,160,999 (GRCm39) S389P probably damaging Het
Zfp777 A T 6: 48,021,580 (GRCm39) V14D possibly damaging Het
Zswim8 C T 14: 20,762,150 (GRCm39) Q262* 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
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
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'- ATGGGACCAAGCCAGTTCTC -3'
(R):5'- AGTATTGATCGCGCAACAGC -3'

Sequencing Primer
(F):5'- AAGCCAGTTCTCGCGAGACTAG -3'
(R):5'- TTGACAATCGGGCAGGGGTC -3'
Posted On 2022-08-09